Full text data of TSSC4
TSSC4
[Confidence: low (only semi-automatic identification from reviews)]
Protein TSSC4 (Tumor-suppressing STF cDNA 4 protein; Tumor-suppressing subchromosomal transferable fragment candidate gene 4 protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Protein TSSC4 (Tumor-suppressing STF cDNA 4 protein; Tumor-suppressing subchromosomal transferable fragment candidate gene 4 protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q9Y5U2
ID TSSC4_HUMAN Reviewed; 329 AA.
AC Q9Y5U2; C9JS66; Q86VL2; Q9BRS6;
DT 20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
read moreDT 18-MAY-2010, sequence version 3.
DT 22-JAN-2014, entry version 85.
DE RecName: Full=Protein TSSC4;
DE AltName: Full=Tumor-suppressing STF cDNA 4 protein;
DE AltName: Full=Tumor-suppressing subchromosomal transferable fragment candidate gene 4 protein;
GN Name=TSSC4;
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] (ISOFORM 1), TISSUE SPECIFICITY, AND
RP VARIANT PRO-274.
RX PubMed=10072438; DOI=10.1093/hmg/8.4.683;
RA Lee M.P., Brandenburg S., Landes G.M., Adams M., Miller G.,
RA Feinberg A.P.;
RT "Two novel genes in the center of the 11p15 imprinted domain escape
RT genomic imprinting.";
RL Hum. Mol. Genet. 8:683-690(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
RA Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
RA FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
RA Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
RA Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
RA Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP PRO-274.
RC TISSUE=Brain, and Lymph;
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 [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-143 AND SER-146, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-321, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-217, AND MASS SPECTROMETRY.
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
RA Walther T.C., Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-143 AND SER-146, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [9]
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y5U2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5U2-2; Sequence=VSP_016561;
CC -!- TISSUE SPECIFICITY: Expressed in fetal brain, lung, liver and
CC kidney. Widely expressed in adult tissues.
CC -!- SIMILARITY: Belongs to the TSSC4 family.
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; AF125568; AAD23579.1; -; mRNA.
DR EMBL; AC124057; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC006091; AAH06091.1; -; mRNA.
DR EMBL; BC050616; AAH50616.1; -; mRNA.
DR RefSeq; NP_005697.2; NM_005706.2.
DR RefSeq; XP_005252779.1; XM_005252722.1.
DR RefSeq; XP_005252780.1; XM_005252723.1.
DR RefSeq; XP_005252781.1; XM_005252724.1.
DR UniGene; Hs.523424; -.
DR ProteinModelPortal; Q9Y5U2; -.
DR IntAct; Q9Y5U2; 5.
DR MINT; MINT-1380986; -.
DR STRING; 9606.ENSP00000331087; -.
DR PhosphoSite; Q9Y5U2; -.
DR DMDM; 296453006; -.
DR PaxDb; Q9Y5U2; -.
DR PRIDE; Q9Y5U2; -.
DR DNASU; 10078; -.
DR Ensembl; ENST00000333256; ENSP00000331087; ENSG00000184281.
DR Ensembl; ENST00000380996; ENSP00000370384; ENSG00000184281.
DR Ensembl; ENST00000451491; ENSP00000411224; ENSG00000184281.
DR GeneID; 10078; -.
DR KEGG; hsa:10078; -.
DR UCSC; uc001lwk.3; human.
DR CTD; 10078; -.
DR GeneCards; GC11P002421; -.
DR H-InvDB; HIX0009365; -.
DR HGNC; HGNC:12386; TSSC4.
DR HPA; HPA041801; -.
DR MIM; 603852; gene.
DR neXtProt; NX_Q9Y5U2; -.
DR PharmGKB; PA37054; -.
DR eggNOG; NOG40157; -.
DR HOGENOM; HOG000154697; -.
DR HOVERGEN; HBG059835; -.
DR InParanoid; Q9Y5U2; -.
DR OMA; ETVGFHG; -.
DR OrthoDB; EOG7C8GHF; -.
DR PhylomeDB; Q9Y5U2; -.
DR GenomeRNAi; 10078; -.
DR NextBio; 38103; -.
DR PRO; PR:Q9Y5U2; -.
DR ArrayExpress; Q9Y5U2; -.
DR Bgee; Q9Y5U2; -.
DR CleanEx; HS_TSSC4; -.
DR Genevestigator; Q9Y5U2; -.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome; Phosphoprotein;
KW Polymorphism; Reference proteome.
FT CHAIN 1 329 Protein TSSC4.
FT /FTId=PRO_0000076360.
FT MOD_RES 143 143 Phosphoserine.
FT MOD_RES 146 146 Phosphoserine.
FT MOD_RES 217 217 N6-acetyllysine.
FT MOD_RES 321 321 Phosphoserine.
FT VAR_SEQ 8 71 Missing (in isoform 2).
FT /FTId=VSP_016561.
FT VARIANT 17 17 H -> P (in dbSNP:rs2234278).
FT /FTId=VAR_057826.
FT VARIANT 124 124 R -> Q (in dbSNP:rs1008265).
FT /FTId=VAR_060194.
FT VARIANT 230 230 R -> S (in dbSNP:rs2234280).
FT /FTId=VAR_057827.
FT VARIANT 262 262 G -> R (in dbSNP:rs2234281).
FT /FTId=VAR_057828.
FT VARIANT 274 274 H -> P (in dbSNP:rs2234283).
FT /FTId=VAR_063128.
FT CONFLICT 72 72 L -> F (in Ref. 1; AAD23579).
SQ SEQUENCE 329 AA; 34326 MW; AFC2D5CBD93844F0 CRC64;
MAEAGTGEPS PSVEGEHGTE YDTLPSDTVS LSDSDSDLSL PGGAEVEALS PMGLPGEEDS
GPDEPPSPPS GLLPATVQPF HLRGMSSTFS QRSRDIFDCL EGAARRAPSS VAHTSMSDNG
GFKRPLAPSG RSPVEGLGRA HRSPASPRVP PVPDYVAHPE RWTKYSLEDV TEVSEQSNQA
TALAFLGSQS LAAPTDCVSS FNQDPSSCGE GRVIFTKPVR GVEARHERKR VLGKVGEPGR
GGLGNPATDR GEGPVELAHL AGPGSPEAEE WGSHHGGLQE VEALSGSVHS GSVPGLPPVE
TVGFHGSRKR SRDHFRNKSS SPEDPGAEV
//
ID TSSC4_HUMAN Reviewed; 329 AA.
AC Q9Y5U2; C9JS66; Q86VL2; Q9BRS6;
DT 20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
read moreDT 18-MAY-2010, sequence version 3.
DT 22-JAN-2014, entry version 85.
DE RecName: Full=Protein TSSC4;
DE AltName: Full=Tumor-suppressing STF cDNA 4 protein;
DE AltName: Full=Tumor-suppressing subchromosomal transferable fragment candidate gene 4 protein;
GN Name=TSSC4;
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] (ISOFORM 1), TISSUE SPECIFICITY, AND
RP VARIANT PRO-274.
RX PubMed=10072438; DOI=10.1093/hmg/8.4.683;
RA Lee M.P., Brandenburg S., Landes G.M., Adams M., Miller G.,
RA Feinberg A.P.;
RT "Two novel genes in the center of the 11p15 imprinted domain escape
RT genomic imprinting.";
RL Hum. Mol. Genet. 8:683-690(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
RA Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
RA FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
RA Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
RA Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
RA Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP PRO-274.
RC TISSUE=Brain, and Lymph;
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 [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-143 AND SER-146, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-321, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-217, AND MASS SPECTROMETRY.
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
RA Walther T.C., Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-143 AND SER-146, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [9]
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y5U2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5U2-2; Sequence=VSP_016561;
CC -!- TISSUE SPECIFICITY: Expressed in fetal brain, lung, liver and
CC kidney. Widely expressed in adult tissues.
CC -!- SIMILARITY: Belongs to the TSSC4 family.
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; AF125568; AAD23579.1; -; mRNA.
DR EMBL; AC124057; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC006091; AAH06091.1; -; mRNA.
DR EMBL; BC050616; AAH50616.1; -; mRNA.
DR RefSeq; NP_005697.2; NM_005706.2.
DR RefSeq; XP_005252779.1; XM_005252722.1.
DR RefSeq; XP_005252780.1; XM_005252723.1.
DR RefSeq; XP_005252781.1; XM_005252724.1.
DR UniGene; Hs.523424; -.
DR ProteinModelPortal; Q9Y5U2; -.
DR IntAct; Q9Y5U2; 5.
DR MINT; MINT-1380986; -.
DR STRING; 9606.ENSP00000331087; -.
DR PhosphoSite; Q9Y5U2; -.
DR DMDM; 296453006; -.
DR PaxDb; Q9Y5U2; -.
DR PRIDE; Q9Y5U2; -.
DR DNASU; 10078; -.
DR Ensembl; ENST00000333256; ENSP00000331087; ENSG00000184281.
DR Ensembl; ENST00000380996; ENSP00000370384; ENSG00000184281.
DR Ensembl; ENST00000451491; ENSP00000411224; ENSG00000184281.
DR GeneID; 10078; -.
DR KEGG; hsa:10078; -.
DR UCSC; uc001lwk.3; human.
DR CTD; 10078; -.
DR GeneCards; GC11P002421; -.
DR H-InvDB; HIX0009365; -.
DR HGNC; HGNC:12386; TSSC4.
DR HPA; HPA041801; -.
DR MIM; 603852; gene.
DR neXtProt; NX_Q9Y5U2; -.
DR PharmGKB; PA37054; -.
DR eggNOG; NOG40157; -.
DR HOGENOM; HOG000154697; -.
DR HOVERGEN; HBG059835; -.
DR InParanoid; Q9Y5U2; -.
DR OMA; ETVGFHG; -.
DR OrthoDB; EOG7C8GHF; -.
DR PhylomeDB; Q9Y5U2; -.
DR GenomeRNAi; 10078; -.
DR NextBio; 38103; -.
DR PRO; PR:Q9Y5U2; -.
DR ArrayExpress; Q9Y5U2; -.
DR Bgee; Q9Y5U2; -.
DR CleanEx; HS_TSSC4; -.
DR Genevestigator; Q9Y5U2; -.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome; Phosphoprotein;
KW Polymorphism; Reference proteome.
FT CHAIN 1 329 Protein TSSC4.
FT /FTId=PRO_0000076360.
FT MOD_RES 143 143 Phosphoserine.
FT MOD_RES 146 146 Phosphoserine.
FT MOD_RES 217 217 N6-acetyllysine.
FT MOD_RES 321 321 Phosphoserine.
FT VAR_SEQ 8 71 Missing (in isoform 2).
FT /FTId=VSP_016561.
FT VARIANT 17 17 H -> P (in dbSNP:rs2234278).
FT /FTId=VAR_057826.
FT VARIANT 124 124 R -> Q (in dbSNP:rs1008265).
FT /FTId=VAR_060194.
FT VARIANT 230 230 R -> S (in dbSNP:rs2234280).
FT /FTId=VAR_057827.
FT VARIANT 262 262 G -> R (in dbSNP:rs2234281).
FT /FTId=VAR_057828.
FT VARIANT 274 274 H -> P (in dbSNP:rs2234283).
FT /FTId=VAR_063128.
FT CONFLICT 72 72 L -> F (in Ref. 1; AAD23579).
SQ SEQUENCE 329 AA; 34326 MW; AFC2D5CBD93844F0 CRC64;
MAEAGTGEPS PSVEGEHGTE YDTLPSDTVS LSDSDSDLSL PGGAEVEALS PMGLPGEEDS
GPDEPPSPPS GLLPATVQPF HLRGMSSTFS QRSRDIFDCL EGAARRAPSS VAHTSMSDNG
GFKRPLAPSG RSPVEGLGRA HRSPASPRVP PVPDYVAHPE RWTKYSLEDV TEVSEQSNQA
TALAFLGSQS LAAPTDCVSS FNQDPSSCGE GRVIFTKPVR GVEARHERKR VLGKVGEPGR
GGLGNPATDR GEGPVELAHL AGPGSPEAEE WGSHHGGLQE VEALSGSVHS GSVPGLPPVE
TVGFHGSRKR SRDHFRNKSS SPEDPGAEV
//
MIM
603852
*RECORD*
*FIELD* NO
603852
*FIELD* TI
*603852 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE
4; TSSC4
read more;;TUMOR-SUPPRESSING STF cDNA 4
*FIELD* TX
DESCRIPTION
The TSSC4 gene is a nonimprinted tumor suppressor gene that resides in
the imprinted gene domain on chromosome 11p15.5 (Lee et al., 1999).
CLONING
Because of the large number of imprinted genes on 11p15, spanning
approximately 1 Mb, this region appears to represent 1 of 2 known large
imprinted domains in the human genome, the other being the
Prader-Willi/Angelman syndrome domain of 15q11-q13 (see 105830). Koi et
al. (1993) isolated a subchromosomal transferable fragment (STF) that
suppresses in vitro growth of the rhabdomyosarcoma cell line RD,
confirming the existence of 1 or more tumor suppressor genes within this
region. Hu et al. (1997) found that the STF spans approximately 2.5 Mb,
with D11S12 at its proximal end and D11S1318 at its distal end. Within a
cluster of imprinted genes in this STF, Lee et al. (1999) identified 2
novel genes, designated TSSC4 and TSSC6 (603853), that were not
imprinted in any of the fetal or extraembryonic tissues examined. The
TSSC4 cDNA encodes a predicted protein of 349 amino acids that shows no
close similarity to previously reported proteins. Northern blot analysis
revealed that the TSSC4 gene was expressed as an approximately 1.6-kb
transcript in fetal brain, lung, liver, and kidney. The TSSC4 and TSSC6
genes are both located in the center of the 1-Mb imprinted domain on
11p15 that contains the 7 imprinted genes. Thus, the imprinted gene
domain of 11p15 appears to contain at least 2 imprinted subdomains,
between which the TSSC4 and TSSC6 genes substantially escape imprinting,
due either to a lack of initial silencing or to an early developmental
relaxation of imprinting.
OTHER FEATURES
Lee et al. (1999) noted that 7 imprinted genes had been identified on
11p15: IGF2 (147470), which encodes an important autocrine growth factor
in cancer; H19 (103280), an untranslated RNA whose imprinting regulates
IGF2; ASCL2 (601886), a homolog of Drosophila achaete-scute that is
expressed in the trophoblast; KCNQ1 (607542), which encodes a
voltage-gated potassium channel; p57(KIP2) (CDKN1C; 600856), which
encodes a cyclin-dependent kinase inhibitor; TSSC5 (IMPT1; 602631),
which encodes a predicted transmembrane transporter; and TSSC3 (602131),
also known as IPL, a homolog of a mouse apoptosis-inducing gene. With
the exception of IGF2, all of these genes are expressed from the
maternal allele.
*FIELD* RF
1. Hu, R.-J.; Lee, M. P.; Connors, T. D.; Johnson, L. A.; Burn, T.
C.; Su, K.; Landes, G. M.; Feinberg, A. P.: A 2.5-Mb transcript map
of a tumor-suppressing subchromosomal transferable fragment from 11p15.5,
and isolation and sequence analysis of three novel genes. Genomics 46:
9-17, 1997.
2. Koi, M.; Johnson, L. A.; Kalikin, L. M.; Little, P. F. R.; Nakamura,
Y.; Feinberg, A. P.: Tumor cell growth arrest caused by subchromosomal
transferable DNA fragments from chromosome 11. Science 260: 361-364,
1993.
3. Lee, M. P.; Brandenburg, S.; Landes, G. M.; Adams, M.; Miller,
G.; Feinberg, A. P.: Two novel genes in the center of the 11p15 imprinted
domain escape genomic imprinting. Hum. Molec. Genet. 8: 683-690,
1999.
*FIELD* CD
Victor A. McKusick: 5/27/1999
*FIELD* ED
alopez: 12/02/2010
mgross: 10/28/2004
ckniffin: 2/5/2003
alopez: 4/20/2000
terry: 6/9/1999
mgross: 5/27/1999
*RECORD*
*FIELD* NO
603852
*FIELD* TI
*603852 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE
4; TSSC4
read more;;TUMOR-SUPPRESSING STF cDNA 4
*FIELD* TX
DESCRIPTION
The TSSC4 gene is a nonimprinted tumor suppressor gene that resides in
the imprinted gene domain on chromosome 11p15.5 (Lee et al., 1999).
CLONING
Because of the large number of imprinted genes on 11p15, spanning
approximately 1 Mb, this region appears to represent 1 of 2 known large
imprinted domains in the human genome, the other being the
Prader-Willi/Angelman syndrome domain of 15q11-q13 (see 105830). Koi et
al. (1993) isolated a subchromosomal transferable fragment (STF) that
suppresses in vitro growth of the rhabdomyosarcoma cell line RD,
confirming the existence of 1 or more tumor suppressor genes within this
region. Hu et al. (1997) found that the STF spans approximately 2.5 Mb,
with D11S12 at its proximal end and D11S1318 at its distal end. Within a
cluster of imprinted genes in this STF, Lee et al. (1999) identified 2
novel genes, designated TSSC4 and TSSC6 (603853), that were not
imprinted in any of the fetal or extraembryonic tissues examined. The
TSSC4 cDNA encodes a predicted protein of 349 amino acids that shows no
close similarity to previously reported proteins. Northern blot analysis
revealed that the TSSC4 gene was expressed as an approximately 1.6-kb
transcript in fetal brain, lung, liver, and kidney. The TSSC4 and TSSC6
genes are both located in the center of the 1-Mb imprinted domain on
11p15 that contains the 7 imprinted genes. Thus, the imprinted gene
domain of 11p15 appears to contain at least 2 imprinted subdomains,
between which the TSSC4 and TSSC6 genes substantially escape imprinting,
due either to a lack of initial silencing or to an early developmental
relaxation of imprinting.
OTHER FEATURES
Lee et al. (1999) noted that 7 imprinted genes had been identified on
11p15: IGF2 (147470), which encodes an important autocrine growth factor
in cancer; H19 (103280), an untranslated RNA whose imprinting regulates
IGF2; ASCL2 (601886), a homolog of Drosophila achaete-scute that is
expressed in the trophoblast; KCNQ1 (607542), which encodes a
voltage-gated potassium channel; p57(KIP2) (CDKN1C; 600856), which
encodes a cyclin-dependent kinase inhibitor; TSSC5 (IMPT1; 602631),
which encodes a predicted transmembrane transporter; and TSSC3 (602131),
also known as IPL, a homolog of a mouse apoptosis-inducing gene. With
the exception of IGF2, all of these genes are expressed from the
maternal allele.
*FIELD* RF
1. Hu, R.-J.; Lee, M. P.; Connors, T. D.; Johnson, L. A.; Burn, T.
C.; Su, K.; Landes, G. M.; Feinberg, A. P.: A 2.5-Mb transcript map
of a tumor-suppressing subchromosomal transferable fragment from 11p15.5,
and isolation and sequence analysis of three novel genes. Genomics 46:
9-17, 1997.
2. Koi, M.; Johnson, L. A.; Kalikin, L. M.; Little, P. F. R.; Nakamura,
Y.; Feinberg, A. P.: Tumor cell growth arrest caused by subchromosomal
transferable DNA fragments from chromosome 11. Science 260: 361-364,
1993.
3. Lee, M. P.; Brandenburg, S.; Landes, G. M.; Adams, M.; Miller,
G.; Feinberg, A. P.: Two novel genes in the center of the 11p15 imprinted
domain escape genomic imprinting. Hum. Molec. Genet. 8: 683-690,
1999.
*FIELD* CD
Victor A. McKusick: 5/27/1999
*FIELD* ED
alopez: 12/02/2010
mgross: 10/28/2004
ckniffin: 2/5/2003
alopez: 4/20/2000
terry: 6/9/1999
mgross: 5/27/1999