Full text data of HEMGN
HEMGN
(EDAG, NDR)
[Confidence: low (only semi-automatic identification from reviews)]
Hemogen (Erythroid differentiation-associated gene protein; EDAG-1; Hemopoietic gene protein; Negative differentiation regulator protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Hemogen (Erythroid differentiation-associated gene protein; EDAG-1; Hemopoietic gene protein; Negative differentiation regulator protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q9BXL5
ID HEMGN_HUMAN Reviewed; 484 AA.
AC Q9BXL5; Q6XAR3; Q86XY5; Q9NPC0;
DT 11-JUL-2006, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-JUN-2001, sequence version 1.
DT 22-JAN-2014, entry version 83.
DE RecName: Full=Hemogen;
DE AltName: Full=Erythroid differentiation-associated gene protein;
DE Short=EDAG-1;
DE AltName: Full=Hemopoietic gene protein;
DE AltName: Full=Negative differentiation regulator protein;
GN Name=HEMGN; Synonyms=EDAG, NDR; ORFNames=PRO1037, PRO1620;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL
RP STAGE.
RC TISSUE=Bone marrow;
RX PubMed=11404085; DOI=10.1016/S0925-4773(01)00376-8;
RA Yang L.V., Nicholson R.H., Kaplan J., Galy A., Li L.;
RT "Hemogen is a novel nuclear factor specifically expressed in mouse
RT hematopoietic development and its human homologue EDAG maps to
RT chromosome 9q22, a region containing breakpoints of hematological
RT neoplasms.";
RL Mech. Dev. 104:105-111(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=14648837; DOI=10.1002/dvdy.10399;
RA Yang L.V., Heng H.H., Wan J., Southwood C.M., Gow A., Li L.;
RT "Alternative promoters and polyadenylation regulate tissue-specific
RT expression of Hemogen isoforms during hematopoiesis and
RT spermatogenesis.";
RL Dev. Dyn. 228:606-616(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INDUCTION, AND TISSUE
RP SPECIFICITY.
RX PubMed=15332117; DOI=10.1038/sj.cdd.4401490;
RA Li C.Y., Zhan Y.Q., Xu C.W., Xu W.X., Wang S.Y., Lv J., Zhou Y.,
RA Yue P.B., Chen B., Yang X.M.;
RT "EDAG regulates the proliferation and differentiation of hematopoietic
RT cells and resists cell apoptosis through the activation of nuclear
RT factor-kappa B.";
RL Cell Death Differ. 11:1299-1308(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY,
RP DEVELOPMENTAL STAGE, SUBCELLULAR LOCATION, AND INDUCTION.
RX PubMed=14730214; DOI=10.1159/000075293;
RA Liu C.C., Chou Y.L., Ch'ang L.Y.;
RT "Down-regulation of human NDR gene in megakaryocytic differentiation
RT of erythroleukemia K562 cells.";
RL J. Biomed. Sci. 11:104-116(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
RA Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
RA Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
RA Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
RA Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
RA Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
RA Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
RA Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
RA Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
RA Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
RA Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
RA McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
RA Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
RA Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
RA Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
RA Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
RA Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
RA Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
RA Rogers J., Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-484.
RC TISSUE=Fetal liver;
RA Zhang C., Yu Y., Zhang S., Wei H., Bi J., Zhou G., Dong C., Zai Y.,
RA Xu W., Gao F., Liu M., He F.;
RT "Functional prediction of the coding sequences of 75 new genes deduced
RT by analysis of cDNA clones from human fetal liver.";
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 115-484.
RC TISSUE=Fetal liver;
RA Zhang C., Yu Y., Zhang S., Wei H., Zhou G., Ouyang S., Luo L., Bi J.,
RA Liu M., He F.;
RT "Functional prediction of the coding sequences of 121 new genes
RT deduced by analysis of cDNA clones from human fetal liver.";
RL Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=15920494; DOI=10.1038/sj.leu.2403808;
RA An L.-L., Li G., Wu K.-F., Ma X.-T., Zheng G.-G., Qiu L.-G.,
RA Song Y.-H.;
RT "High expression of EDAG and its significance in AML.";
RL Leukemia 19:1499-1502(2005).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [11]
RP TISSUE SPECIFICITY.
RX PubMed=23436708; DOI=10.1002/pmic.201200489;
RA Liu M., Hu Z., Qi L., Wang J., Zhou T., Guo Y., Zeng Y., Zheng B.,
RA Wu Y., Zhang P., Chen X., Tu W., Zhang T., Zhou Q., Jiang M., Guo X.,
RA Zhou Z., Sha J.;
RT "Scanning of novel cancer/testis proteins by human testis proteomic
RT analysis.";
RL Proteomics 13:1200-1210(2013).
CC -!- FUNCTION: Regulates the proliferation and differentiation of
CC hematopoietic cells. Overexpression block the TPA-induced
CC megakaryocytic differentiation in the K562 cell model. May also
CC prevent cell apoptosis through the activation of the nuclear
CC factor-kappa B (NF-kB).
CC -!- INTERACTION:
CC Q13363:CTBP1; NbExp=2; IntAct=EBI-3916399, EBI-908846;
CC P06748:NPM1; NbExp=7; IntAct=EBI-3916399, EBI-78579;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Expressed in hematopoietic precursor cells,
CC thyroid and spermatids (at protein level). Expressed in bone
CC marrow, testis, thymus. Expressed in prostate cancer and ovarian
CC cancer. Also expressed in thymus and thyroid tumors, non-Hodgkin
CC lymphoma, various leukemia cell lines, peripheral blood
CC mononuclear cells (PBMCs) and bone marrow mononuclear cells
CC (BMMCs) of patients with leukemia.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal liver, kidney and brain.
CC -!- INDUCTION: Down-regulated during megakaryocytic differentiation of
CC K562 cells by 12-O-tetradecanoylphorbol-13-acetate (TPA) (at
CC protein level). Up-regulated in normal PBMCs by mitogens.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF67133.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC Sequence=AAF71041.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC Sequence=AAG35488.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AF322875; AAK26295.1; -; mRNA.
DR EMBL; AY244805; AAP75762.1; -; mRNA.
DR EMBL; AY255672; AAP81221.1; -; mRNA.
DR EMBL; AF228713; AAF67133.1; ALT_INIT; mRNA.
DR EMBL; AL499604; CAI12808.1; -; Genomic_DNA.
DR EMBL; BC048324; AAH48324.1; -; mRNA.
DR EMBL; AF130060; AAG35488.1; ALT_INIT; mRNA.
DR EMBL; AF116617; AAF71041.1; ALT_INIT; mRNA.
DR RefSeq; NP_060907.2; NM_018437.4.
DR RefSeq; NP_932095.1; NM_197978.2.
DR RefSeq; XP_005252143.1; XM_005252086.1.
DR RefSeq; XP_005252144.1; XM_005252087.1.
DR RefSeq; XP_005252145.1; XM_005252088.1.
DR UniGene; Hs.176626; -.
DR ProteinModelPortal; Q9BXL5; -.
DR IntAct; Q9BXL5; 13.
DR MINT; MINT-7220237; -.
DR STRING; 9606.ENSP00000259456; -.
DR PhosphoSite; Q9BXL5; -.
DR DMDM; 74752432; -.
DR PaxDb; Q9BXL5; -.
DR PeptideAtlas; Q9BXL5; -.
DR PRIDE; Q9BXL5; -.
DR Ensembl; ENST00000259456; ENSP00000259456; ENSG00000136929.
DR GeneID; 55363; -.
DR KEGG; hsa:55363; -.
DR UCSC; uc004axy.4; human.
DR CTD; 55363; -.
DR GeneCards; GC09M100689; -.
DR HGNC; HGNC:17509; HEMGN.
DR HPA; HPA019572; -.
DR HPA; HPA019604; -.
DR HPA; HPA019606; -.
DR MIM; 610715; gene.
DR neXtProt; NX_Q9BXL5; -.
DR PharmGKB; PA38458; -.
DR eggNOG; NOG41602; -.
DR HOGENOM; HOG000061736; -.
DR HOVERGEN; HBG080273; -.
DR InParanoid; Q9BXL5; -.
DR OMA; PEIYQET; -.
DR OrthoDB; EOG7K3TN9; -.
DR PhylomeDB; Q9BXL5; -.
DR ChiTaRS; HEMGN; human.
DR GeneWiki; HEMGN; -.
DR GenomeRNAi; 55363; -.
DR NextBio; 59739; -.
DR PRO; PR:Q9BXL5; -.
DR Bgee; Q9BXL5; -.
DR CleanEx; HS_HEMGN; -.
DR Genevestigator; Q9BXL5; -.
DR GO; GO:0005654; C:nucleoplasm; IEA:Ensembl.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007275; P:multicellular organismal development; IEA:UniProtKB-KW.
DR GO; GO:0045667; P:regulation of osteoblast differentiation; IEA:Ensembl.
PE 1: Evidence at protein level;
KW Complete proteome; Developmental protein; Differentiation; Nucleus;
KW Reference proteome.
FT CHAIN 1 484 Hemogen.
FT /FTId=PRO_0000245361.
FT REGION 7 87 Necessary for nuclear localization.
FT CONFLICT 78 78 R -> K (in Ref. 2; AAP75762 and 3;
FT AAF67133).
FT CONFLICT 96 97 IV -> M (in Ref. 6; AAH48324).
SQ SEQUENCE 484 AA; 55341 MW; E1464D1C7BEA1F07 CRC64;
MDLGKDQSHL KHHQTPDPHQ EENHSPEVIG TWSLRNRELL RKRKAEVHEK ETSQWLFGEQ
KKRKQQRTGK GNRRGRKRQQ NTELKVEPQP QIEKEIVEKA LAPIEKKTEP PGSITKVFPS
VASPQKVVPE EHFSEICQES NIYQENFSEY QEIAVQNHSS ETCQHVSEPE DLSPKMYQEI
SVLQDNSSKI CQDMKEPEDN SPNTCQVISV IQDHPFKMYQ DMAKREDLAP KMCQEAAVPK
ILPCPTSEDT ADLAGCSLQA YPKPDVPKGY ILDTDQNPAE PEEYNETDQG IAETEGLFPK
IQEIAEPKDL STKTHQESAE PKYLPHKTCN EIIVPKAPSH KTIQETPHSE DYSIEINQET
PGSEKYSPET YQEIPGLEEY SPEIYQETSQ LEEYSPEIYQ ETPGPEDLST ETYKNKDVPK
ECFPEPHQET GGPQGQDPKA HQEDAKDAYT FPQEMKEKPK EEPGIPAILN ESHPENDVYS
YVLF
//
ID HEMGN_HUMAN Reviewed; 484 AA.
AC Q9BXL5; Q6XAR3; Q86XY5; Q9NPC0;
DT 11-JUL-2006, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-JUN-2001, sequence version 1.
DT 22-JAN-2014, entry version 83.
DE RecName: Full=Hemogen;
DE AltName: Full=Erythroid differentiation-associated gene protein;
DE Short=EDAG-1;
DE AltName: Full=Hemopoietic gene protein;
DE AltName: Full=Negative differentiation regulator protein;
GN Name=HEMGN; Synonyms=EDAG, NDR; ORFNames=PRO1037, PRO1620;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL
RP STAGE.
RC TISSUE=Bone marrow;
RX PubMed=11404085; DOI=10.1016/S0925-4773(01)00376-8;
RA Yang L.V., Nicholson R.H., Kaplan J., Galy A., Li L.;
RT "Hemogen is a novel nuclear factor specifically expressed in mouse
RT hematopoietic development and its human homologue EDAG maps to
RT chromosome 9q22, a region containing breakpoints of hematological
RT neoplasms.";
RL Mech. Dev. 104:105-111(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=14648837; DOI=10.1002/dvdy.10399;
RA Yang L.V., Heng H.H., Wan J., Southwood C.M., Gow A., Li L.;
RT "Alternative promoters and polyadenylation regulate tissue-specific
RT expression of Hemogen isoforms during hematopoiesis and
RT spermatogenesis.";
RL Dev. Dyn. 228:606-616(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INDUCTION, AND TISSUE
RP SPECIFICITY.
RX PubMed=15332117; DOI=10.1038/sj.cdd.4401490;
RA Li C.Y., Zhan Y.Q., Xu C.W., Xu W.X., Wang S.Y., Lv J., Zhou Y.,
RA Yue P.B., Chen B., Yang X.M.;
RT "EDAG regulates the proliferation and differentiation of hematopoietic
RT cells and resists cell apoptosis through the activation of nuclear
RT factor-kappa B.";
RL Cell Death Differ. 11:1299-1308(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY,
RP DEVELOPMENTAL STAGE, SUBCELLULAR LOCATION, AND INDUCTION.
RX PubMed=14730214; DOI=10.1159/000075293;
RA Liu C.C., Chou Y.L., Ch'ang L.Y.;
RT "Down-regulation of human NDR gene in megakaryocytic differentiation
RT of erythroleukemia K562 cells.";
RL J. Biomed. Sci. 11:104-116(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
RA Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
RA Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
RA Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
RA Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
RA Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
RA Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
RA Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
RA Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
RA Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
RA Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
RA McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
RA Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
RA Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
RA Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
RA Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
RA Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
RA Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
RA Rogers J., Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-484.
RC TISSUE=Fetal liver;
RA Zhang C., Yu Y., Zhang S., Wei H., Bi J., Zhou G., Dong C., Zai Y.,
RA Xu W., Gao F., Liu M., He F.;
RT "Functional prediction of the coding sequences of 75 new genes deduced
RT by analysis of cDNA clones from human fetal liver.";
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 115-484.
RC TISSUE=Fetal liver;
RA Zhang C., Yu Y., Zhang S., Wei H., Zhou G., Ouyang S., Luo L., Bi J.,
RA Liu M., He F.;
RT "Functional prediction of the coding sequences of 121 new genes
RT deduced by analysis of cDNA clones from human fetal liver.";
RL Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=15920494; DOI=10.1038/sj.leu.2403808;
RA An L.-L., Li G., Wu K.-F., Ma X.-T., Zheng G.-G., Qiu L.-G.,
RA Song Y.-H.;
RT "High expression of EDAG and its significance in AML.";
RL Leukemia 19:1499-1502(2005).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [11]
RP TISSUE SPECIFICITY.
RX PubMed=23436708; DOI=10.1002/pmic.201200489;
RA Liu M., Hu Z., Qi L., Wang J., Zhou T., Guo Y., Zeng Y., Zheng B.,
RA Wu Y., Zhang P., Chen X., Tu W., Zhang T., Zhou Q., Jiang M., Guo X.,
RA Zhou Z., Sha J.;
RT "Scanning of novel cancer/testis proteins by human testis proteomic
RT analysis.";
RL Proteomics 13:1200-1210(2013).
CC -!- FUNCTION: Regulates the proliferation and differentiation of
CC hematopoietic cells. Overexpression block the TPA-induced
CC megakaryocytic differentiation in the K562 cell model. May also
CC prevent cell apoptosis through the activation of the nuclear
CC factor-kappa B (NF-kB).
CC -!- INTERACTION:
CC Q13363:CTBP1; NbExp=2; IntAct=EBI-3916399, EBI-908846;
CC P06748:NPM1; NbExp=7; IntAct=EBI-3916399, EBI-78579;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Expressed in hematopoietic precursor cells,
CC thyroid and spermatids (at protein level). Expressed in bone
CC marrow, testis, thymus. Expressed in prostate cancer and ovarian
CC cancer. Also expressed in thymus and thyroid tumors, non-Hodgkin
CC lymphoma, various leukemia cell lines, peripheral blood
CC mononuclear cells (PBMCs) and bone marrow mononuclear cells
CC (BMMCs) of patients with leukemia.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal liver, kidney and brain.
CC -!- INDUCTION: Down-regulated during megakaryocytic differentiation of
CC K562 cells by 12-O-tetradecanoylphorbol-13-acetate (TPA) (at
CC protein level). Up-regulated in normal PBMCs by mitogens.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF67133.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC Sequence=AAF71041.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC Sequence=AAG35488.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AF322875; AAK26295.1; -; mRNA.
DR EMBL; AY244805; AAP75762.1; -; mRNA.
DR EMBL; AY255672; AAP81221.1; -; mRNA.
DR EMBL; AF228713; AAF67133.1; ALT_INIT; mRNA.
DR EMBL; AL499604; CAI12808.1; -; Genomic_DNA.
DR EMBL; BC048324; AAH48324.1; -; mRNA.
DR EMBL; AF130060; AAG35488.1; ALT_INIT; mRNA.
DR EMBL; AF116617; AAF71041.1; ALT_INIT; mRNA.
DR RefSeq; NP_060907.2; NM_018437.4.
DR RefSeq; NP_932095.1; NM_197978.2.
DR RefSeq; XP_005252143.1; XM_005252086.1.
DR RefSeq; XP_005252144.1; XM_005252087.1.
DR RefSeq; XP_005252145.1; XM_005252088.1.
DR UniGene; Hs.176626; -.
DR ProteinModelPortal; Q9BXL5; -.
DR IntAct; Q9BXL5; 13.
DR MINT; MINT-7220237; -.
DR STRING; 9606.ENSP00000259456; -.
DR PhosphoSite; Q9BXL5; -.
DR DMDM; 74752432; -.
DR PaxDb; Q9BXL5; -.
DR PeptideAtlas; Q9BXL5; -.
DR PRIDE; Q9BXL5; -.
DR Ensembl; ENST00000259456; ENSP00000259456; ENSG00000136929.
DR GeneID; 55363; -.
DR KEGG; hsa:55363; -.
DR UCSC; uc004axy.4; human.
DR CTD; 55363; -.
DR GeneCards; GC09M100689; -.
DR HGNC; HGNC:17509; HEMGN.
DR HPA; HPA019572; -.
DR HPA; HPA019604; -.
DR HPA; HPA019606; -.
DR MIM; 610715; gene.
DR neXtProt; NX_Q9BXL5; -.
DR PharmGKB; PA38458; -.
DR eggNOG; NOG41602; -.
DR HOGENOM; HOG000061736; -.
DR HOVERGEN; HBG080273; -.
DR InParanoid; Q9BXL5; -.
DR OMA; PEIYQET; -.
DR OrthoDB; EOG7K3TN9; -.
DR PhylomeDB; Q9BXL5; -.
DR ChiTaRS; HEMGN; human.
DR GeneWiki; HEMGN; -.
DR GenomeRNAi; 55363; -.
DR NextBio; 59739; -.
DR PRO; PR:Q9BXL5; -.
DR Bgee; Q9BXL5; -.
DR CleanEx; HS_HEMGN; -.
DR Genevestigator; Q9BXL5; -.
DR GO; GO:0005654; C:nucleoplasm; IEA:Ensembl.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007275; P:multicellular organismal development; IEA:UniProtKB-KW.
DR GO; GO:0045667; P:regulation of osteoblast differentiation; IEA:Ensembl.
PE 1: Evidence at protein level;
KW Complete proteome; Developmental protein; Differentiation; Nucleus;
KW Reference proteome.
FT CHAIN 1 484 Hemogen.
FT /FTId=PRO_0000245361.
FT REGION 7 87 Necessary for nuclear localization.
FT CONFLICT 78 78 R -> K (in Ref. 2; AAP75762 and 3;
FT AAF67133).
FT CONFLICT 96 97 IV -> M (in Ref. 6; AAH48324).
SQ SEQUENCE 484 AA; 55341 MW; E1464D1C7BEA1F07 CRC64;
MDLGKDQSHL KHHQTPDPHQ EENHSPEVIG TWSLRNRELL RKRKAEVHEK ETSQWLFGEQ
KKRKQQRTGK GNRRGRKRQQ NTELKVEPQP QIEKEIVEKA LAPIEKKTEP PGSITKVFPS
VASPQKVVPE EHFSEICQES NIYQENFSEY QEIAVQNHSS ETCQHVSEPE DLSPKMYQEI
SVLQDNSSKI CQDMKEPEDN SPNTCQVISV IQDHPFKMYQ DMAKREDLAP KMCQEAAVPK
ILPCPTSEDT ADLAGCSLQA YPKPDVPKGY ILDTDQNPAE PEEYNETDQG IAETEGLFPK
IQEIAEPKDL STKTHQESAE PKYLPHKTCN EIIVPKAPSH KTIQETPHSE DYSIEINQET
PGSEKYSPET YQEIPGLEEY SPEIYQETSQ LEEYSPEIYQ ETPGPEDLST ETYKNKDVPK
ECFPEPHQET GGPQGQDPKA HQEDAKDAYT FPQEMKEKPK EEPGIPAILN ESHPENDVYS
YVLF
//
MIM
610715
*RECORD*
*FIELD* NO
610715
*FIELD* TI
*610715 HEMOGEN; HEMGN
;;ERYTHROID DIFFERENTIATION-ASSOCIATED GENE; EDAG
*FIELD* TX
read more
CLONING
Yang et al. (2001) cloned mouse Hemgn and, by database analysis and
RT-PCR of a K562 myelogenous leukemia cell line cDNA library, they
cloned human HEMGN, or EDAG. The deduced mouse and human proteins
contain 503 and 484 amino acids, respectively, and share 43% identity. A
coiled-coil region and bipartite nuclear localization signal are
conserved in the N termini of both proteins. Northern blot analysis
detected a major 2.4-kb transcript and a minor 1.8-kb transcript in
adult human bone marrow and fetal liver. RT-PCR detected high HEMGN
expression in untreated and mitogen-treated K562 cells, adult bone
marrow, and CD34 (142230)-positive progenitor cells. Lower expression
was detected in a child thymus and in a histiocyte lymphoma cell line,
but no expression was detected in cultured T cells, monocytes, and
nonhematopoietic cell lines examined. Northern blot analysis of adult
mice detected Hemgn expression in bone marrow and spleen, but not in
thymus and nonhematopoietic tissues. In situ hybridization of adult
spleen revealed Hemgn in red, but not white, pulp. In situ hybridization
of day-8.5 mouse embryos showed Hemgn in blood islands of the yolk sac
and in circulating primitive blood cells. Hemgn was expressed in
developing hepatic primordia at day 10.5 and, from day 11.5, it was
expressed exclusively in fetal liver. FACS analysis showed Hemgn in
hematopoietic precursors of adult mice, but not in mature blood cells.
Transfected COS-7 cells expressed mouse Hemgn in nuclei, but not in
nucleoli or cytoplasm.
By database analysis, Yang et al. (2003) identified a testis-specific
HEMGN splice variant that they called HEMGN-t. HEMGN-t and the
hematopoietic variant, HEMGN-h, differ in their 5-prime and 3-prime
UTRs, but they have the same coding region. Northern blot analysis
detected a 1.9-kb HEMGN-t transcript in mouse and human testis. In situ
hybridization of adult mouse testis revealed Hemgn only in round
spermatids. Northern blot analysis showed that Hemgn expression in
prepubertal mouse testis correlated with the appearance of postmeiotic
cells, and Hemgn expression was weak in testis of mice lacking
postmeiotic germ cells.
GENE FUNCTION
Li et al. (2004) found that downregulation of EDAG in K562 cells
resulted in inhibition of growth and colony formation, as well as
enhancement of sensitivity to erythroid differentiation induced by
hemin. Overexpression of EDAG in a human myeloid leukemia cell line
significantly blocked expression of the monocyte/macrophage
differentiation marker CD11b (ITGAM; 120980) after mitogen exposure.
Moreover, overexpression of EDAG in a mouse pro-B cell line prolonged
survival and increased expression of Myc (190080), Bcl2 (151430), and
Bclxl (600039) in the absence of interleukin-3 (IL3; 147740). EDAG
enhanced the transcriptional activity of NF-kappa-B (NFKB; see 164011),
and high DNA-binding activity of Nfkb was sustained in EDAG-expressing
pre-B cells after IL3 withdrawal. In these cells, inhibition of Nfkb
activity promoted cell death. Li et al. (2004) concluded that EDAG
regulates proliferation and differentiation of hematopoietic cells and
resists cell death through activation of NFKB.
By examining expression of a mouse Hemgn promoter-reporter plasmid in
transgenic mice, Yang et al. (2006) showed that the promoter was
transcriptionally active in embryonic yolk sac, fetal liver, and adult
spleen, bone marrow, brain, thymus, lung, and testis. Mutagenesis
analysis showed that 2 highly conserved GATA boxes were critical for
promoter activity. GATA1 (305371), but not GATA2 (137295), bound to the
GATA-binding sites and transactivated the Hemgn promoter in a
dose-dependent manner. Yang et al. (2006) also found that levels of
HEMGN and GATA1 transcripts closely correlated in human primary acute
myeloid leukemia specimens.
GENE STRUCTURE
Yang et al. (2001) determined that the HEMGN gene spans 18 kb and
contains 5 exons. The first exon is specific to the HEMGN-t variant and
encodes an alternative 5-prime UTR. The donor-acceptor sequence used for
this alternative first exon is GC-AC instead of the canonical GT-AG. The
last exon of HEMGN contains 2 alternative noncanonical polyadenylation
sequences used by the HEMGN-t and HEMGN-h variants. Two promoters in the
5-prime region direct transcription of HEMGN-t and HEMGN-h and are
separated by 6 kb.
Yang et al. (2006) found that the region upstream of the HEMGN coding
sequence contains several evolutionarily conserved sequences and that
the proximal promoter contains a TATA box and 2 conserved GATA boxes.
MAPPING
By FISH, Yang et al. (2003) mapped the HEMGN gene to chromosome 9q22.
They mapped the mouse Hemgn gene to chromosome 4A5-B2.
*FIELD* RF
1. Li, C. Y.; Zhan, Y. Q.; Xu, C. W.; Xu, W. X.; Wang, S. Y.; Lv,
J.; Zhou, Y.; Yue, P. B.; Chen, B.; Yang, X. M.: EDAG regulates the
proliferation and differentiation of hematopoietic cells and resists
cell apoptosis through the activation of nuclear factor-kappa-B. Cell
Death Diff. 11: 1299-1308, 2004.
2. Yang, L. V.; Heng, H. H.; Wan, J.; Southwood, C. M.; Gow, A.; Li,
L.: Alternative promoters and polyadenylation regulate tissue-specific
expression of hemogen isoforms during hematopoiesis and spermatogenesis. Dev.
Dyn. 228: 606-616, 2003.
3. Yang, L. V.; Nicholson, R. H.; Kaplan, J.; Galy, A.; Li, L.: Hemogen
is a novel nuclear factor specifically expressed in mouse hematopoietic
development and its human homologue EDAG maps to chromosome 9q22,
a region containing breakpoints of hematological neoplasms. Mech.
Dev. 104: 105-111, 2001.
4. Yang, L. V.; Wan, J.; Ge, Y.; Fu, Z.; Kim, S. Y.; Fujiwara, Y.;
Taub, J. W.; Matherly, L. H.; Eliason, J.; Li, L.: The GATA site-dependent
hemogen promoter is transcriptionally regulated by GATA1 in hematopoietic
and leukemia cells. Leukemia 20: 417-425, 2006.
*FIELD* CD
Patricia A. Hartz: 1/23/2007
*FIELD* ED
mgross: 01/23/2007
*RECORD*
*FIELD* NO
610715
*FIELD* TI
*610715 HEMOGEN; HEMGN
;;ERYTHROID DIFFERENTIATION-ASSOCIATED GENE; EDAG
*FIELD* TX
read more
CLONING
Yang et al. (2001) cloned mouse Hemgn and, by database analysis and
RT-PCR of a K562 myelogenous leukemia cell line cDNA library, they
cloned human HEMGN, or EDAG. The deduced mouse and human proteins
contain 503 and 484 amino acids, respectively, and share 43% identity. A
coiled-coil region and bipartite nuclear localization signal are
conserved in the N termini of both proteins. Northern blot analysis
detected a major 2.4-kb transcript and a minor 1.8-kb transcript in
adult human bone marrow and fetal liver. RT-PCR detected high HEMGN
expression in untreated and mitogen-treated K562 cells, adult bone
marrow, and CD34 (142230)-positive progenitor cells. Lower expression
was detected in a child thymus and in a histiocyte lymphoma cell line,
but no expression was detected in cultured T cells, monocytes, and
nonhematopoietic cell lines examined. Northern blot analysis of adult
mice detected Hemgn expression in bone marrow and spleen, but not in
thymus and nonhematopoietic tissues. In situ hybridization of adult
spleen revealed Hemgn in red, but not white, pulp. In situ hybridization
of day-8.5 mouse embryos showed Hemgn in blood islands of the yolk sac
and in circulating primitive blood cells. Hemgn was expressed in
developing hepatic primordia at day 10.5 and, from day 11.5, it was
expressed exclusively in fetal liver. FACS analysis showed Hemgn in
hematopoietic precursors of adult mice, but not in mature blood cells.
Transfected COS-7 cells expressed mouse Hemgn in nuclei, but not in
nucleoli or cytoplasm.
By database analysis, Yang et al. (2003) identified a testis-specific
HEMGN splice variant that they called HEMGN-t. HEMGN-t and the
hematopoietic variant, HEMGN-h, differ in their 5-prime and 3-prime
UTRs, but they have the same coding region. Northern blot analysis
detected a 1.9-kb HEMGN-t transcript in mouse and human testis. In situ
hybridization of adult mouse testis revealed Hemgn only in round
spermatids. Northern blot analysis showed that Hemgn expression in
prepubertal mouse testis correlated with the appearance of postmeiotic
cells, and Hemgn expression was weak in testis of mice lacking
postmeiotic germ cells.
GENE FUNCTION
Li et al. (2004) found that downregulation of EDAG in K562 cells
resulted in inhibition of growth and colony formation, as well as
enhancement of sensitivity to erythroid differentiation induced by
hemin. Overexpression of EDAG in a human myeloid leukemia cell line
significantly blocked expression of the monocyte/macrophage
differentiation marker CD11b (ITGAM; 120980) after mitogen exposure.
Moreover, overexpression of EDAG in a mouse pro-B cell line prolonged
survival and increased expression of Myc (190080), Bcl2 (151430), and
Bclxl (600039) in the absence of interleukin-3 (IL3; 147740). EDAG
enhanced the transcriptional activity of NF-kappa-B (NFKB; see 164011),
and high DNA-binding activity of Nfkb was sustained in EDAG-expressing
pre-B cells after IL3 withdrawal. In these cells, inhibition of Nfkb
activity promoted cell death. Li et al. (2004) concluded that EDAG
regulates proliferation and differentiation of hematopoietic cells and
resists cell death through activation of NFKB.
By examining expression of a mouse Hemgn promoter-reporter plasmid in
transgenic mice, Yang et al. (2006) showed that the promoter was
transcriptionally active in embryonic yolk sac, fetal liver, and adult
spleen, bone marrow, brain, thymus, lung, and testis. Mutagenesis
analysis showed that 2 highly conserved GATA boxes were critical for
promoter activity. GATA1 (305371), but not GATA2 (137295), bound to the
GATA-binding sites and transactivated the Hemgn promoter in a
dose-dependent manner. Yang et al. (2006) also found that levels of
HEMGN and GATA1 transcripts closely correlated in human primary acute
myeloid leukemia specimens.
GENE STRUCTURE
Yang et al. (2001) determined that the HEMGN gene spans 18 kb and
contains 5 exons. The first exon is specific to the HEMGN-t variant and
encodes an alternative 5-prime UTR. The donor-acceptor sequence used for
this alternative first exon is GC-AC instead of the canonical GT-AG. The
last exon of HEMGN contains 2 alternative noncanonical polyadenylation
sequences used by the HEMGN-t and HEMGN-h variants. Two promoters in the
5-prime region direct transcription of HEMGN-t and HEMGN-h and are
separated by 6 kb.
Yang et al. (2006) found that the region upstream of the HEMGN coding
sequence contains several evolutionarily conserved sequences and that
the proximal promoter contains a TATA box and 2 conserved GATA boxes.
MAPPING
By FISH, Yang et al. (2003) mapped the HEMGN gene to chromosome 9q22.
They mapped the mouse Hemgn gene to chromosome 4A5-B2.
*FIELD* RF
1. Li, C. Y.; Zhan, Y. Q.; Xu, C. W.; Xu, W. X.; Wang, S. Y.; Lv,
J.; Zhou, Y.; Yue, P. B.; Chen, B.; Yang, X. M.: EDAG regulates the
proliferation and differentiation of hematopoietic cells and resists
cell apoptosis through the activation of nuclear factor-kappa-B. Cell
Death Diff. 11: 1299-1308, 2004.
2. Yang, L. V.; Heng, H. H.; Wan, J.; Southwood, C. M.; Gow, A.; Li,
L.: Alternative promoters and polyadenylation regulate tissue-specific
expression of hemogen isoforms during hematopoiesis and spermatogenesis. Dev.
Dyn. 228: 606-616, 2003.
3. Yang, L. V.; Nicholson, R. H.; Kaplan, J.; Galy, A.; Li, L.: Hemogen
is a novel nuclear factor specifically expressed in mouse hematopoietic
development and its human homologue EDAG maps to chromosome 9q22,
a region containing breakpoints of hematological neoplasms. Mech.
Dev. 104: 105-111, 2001.
4. Yang, L. V.; Wan, J.; Ge, Y.; Fu, Z.; Kim, S. Y.; Fujiwara, Y.;
Taub, J. W.; Matherly, L. H.; Eliason, J.; Li, L.: The GATA site-dependent
hemogen promoter is transcriptionally regulated by GATA1 in hematopoietic
and leukemia cells. Leukemia 20: 417-425, 2006.
*FIELD* CD
Patricia A. Hartz: 1/23/2007
*FIELD* ED
mgross: 01/23/2007