Full text data of HBM
HBM
(HBAP2)
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Hemoglobin subunit mu (Hemoglobin mu chain; Mu-globin)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Hemoglobin subunit mu (Hemoglobin mu chain; Mu-globin)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
hRBCD
IPI00456238
IPI00456238 Hemoglobin mu chain Blood, hemoglobin complex, oxygen binding, oxygen transport, transport soluble n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a cytoplasmic n/a found at its expected molecular weight found at molecular weight
IPI00456238 Hemoglobin mu chain Blood, hemoglobin complex, oxygen binding, oxygen transport, transport soluble n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a cytoplasmic n/a found at its expected molecular weight found at molecular weight
UniProt
Q6B0K9
ID HBM_HUMAN Reviewed; 141 AA.
AC Q6B0K9;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 13-SEP-2004, sequence version 1.
DT 22-JAN-2014, entry version 88.
DE RecName: Full=Hemoglobin subunit mu;
DE AltName: Full=Hemoglobin mu chain;
DE AltName: Full=Mu-globin;
GN Name=HBM; Synonyms=HBAP2;
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=Blood;
RX PubMed=15855277; DOI=10.1182/blood-2005-03-0948;
RA Goh S.-H., Lee Y.T., Bhanu N.V., Cam M.C., Desper R., Martin B.M.,
RA Moharram R., Gherman R.B., Miller J.L.;
RT "A newly discovered human alpha-globin gene.";
RL Blood 106:1466-1472(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=16728641; DOI=10.1126/science.1126431;
RA De Gobbi M., Viprakasit V., Hughes J.R., Fisher C., Buckle V.J.,
RA Ayyub H., Gibbons R.J., Vernimmen D., Yoshinaga Y., de Jong P.,
RA Cheng J.-F., Rubin E.M., Wood W.G., Bowden D., Higgs D.R.;
RT "A regulatory SNP causes a human genetic disease by creating a new
RT transcriptional promoter.";
RL Science 312:1215-1217(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
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).
CC -!- TISSUE SPECIFICITY: Expressed in erythroid tissues.
CC -!- DEVELOPMENTAL STAGE: Maximal expression during the erythroblast
CC terminal differentiation.
CC -!- SIMILARITY: Belongs to the globin 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; AY698022; AAT92513.1; -; mRNA.
DR EMBL; DQ431198; ABD95909.1; -; Genomic_DNA.
DR EMBL; BC035682; AAH35682.1; -; mRNA.
DR RefSeq; NP_001003938.1; NM_001003938.3.
DR UniGene; Hs.647389; -.
DR ProteinModelPortal; Q6B0K9; -.
DR SMR; Q6B0K9; 1-141.
DR STRING; 9606.ENSP00000349270; -.
DR DMDM; 74748384; -.
DR PaxDb; Q6B0K9; -.
DR PRIDE; Q6B0K9; -.
DR Ensembl; ENST00000356815; ENSP00000349270; ENSG00000206177.
DR GeneID; 3042; -.
DR KEGG; hsa:3042; -.
DR UCSC; uc002cfu.1; human.
DR CTD; 3042; -.
DR GeneCards; GC16P000203; -.
DR HGNC; HGNC:4826; HBM.
DR MIM; 609639; gene.
DR neXtProt; NX_Q6B0K9; -.
DR PharmGKB; PA29201; -.
DR eggNOG; NOG326767; -.
DR HOGENOM; HOG000036867; -.
DR HOVERGEN; HBG009709; -.
DR InParanoid; Q6B0K9; -.
DR KO; K13828; -.
DR OMA; AGHEAPF; -.
DR OrthoDB; EOG7KH9MP; -.
DR GenomeRNAi; 3042; -.
DR NextBio; 12044; -.
DR PRO; PR:Q6B0K9; -.
DR Bgee; Q6B0K9; -.
DR Genevestigator; Q6B0K9; -.
DR GO; GO:0005833; C:hemoglobin complex; IEA:InterPro.
DR GO; GO:0020037; F:heme binding; IEA:InterPro.
DR GO; GO:0005506; F:iron ion binding; IEA:InterPro.
DR GO; GO:0019825; F:oxygen binding; IEA:InterPro.
DR GO; GO:0005344; F:oxygen transporter activity; IEA:UniProtKB-KW.
DR Gene3D; 1.10.490.10; -; 1.
DR InterPro; IPR000971; Globin.
DR InterPro; IPR009050; Globin-like.
DR InterPro; IPR012292; Globin_dom.
DR InterPro; IPR002338; Haemoglobin_a.
DR Pfam; PF00042; Globin; 1.
DR PRINTS; PR00612; ALPHAHAEM.
DR SUPFAM; SSF46458; SSF46458; 1.
DR PROSITE; PS01033; GLOBIN; 1.
PE 2: Evidence at transcript level;
KW Complete proteome; Heme; Iron; Metal-binding; Oxygen transport;
KW Reference proteome; Transport.
FT CHAIN 1 141 Hemoglobin subunit mu.
FT /FTId=PRO_0000282855.
FT METAL 58 58 Iron (heme distal ligand) (By
FT similarity).
FT METAL 87 87 Iron (heme proximal ligand) (By
FT similarity).
SQ SEQUENCE 141 AA; 15618 MW; 6864266BBE841516 CRC64;
MLSAQERAQI AQVWDLIAGH EAQFGAELLL RLFTVYPSTK VYFPHLSACQ DATQLLSHGQ
RMLAAVGAAV QHVDNLRAAL SPLADLHALV LRVDPANFPL LIQCFHVVLA SHLQDEFTVQ
MQAAWDKFLT GVAVVLTEKY R
//
ID HBM_HUMAN Reviewed; 141 AA.
AC Q6B0K9;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 13-SEP-2004, sequence version 1.
DT 22-JAN-2014, entry version 88.
DE RecName: Full=Hemoglobin subunit mu;
DE AltName: Full=Hemoglobin mu chain;
DE AltName: Full=Mu-globin;
GN Name=HBM; Synonyms=HBAP2;
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=Blood;
RX PubMed=15855277; DOI=10.1182/blood-2005-03-0948;
RA Goh S.-H., Lee Y.T., Bhanu N.V., Cam M.C., Desper R., Martin B.M.,
RA Moharram R., Gherman R.B., Miller J.L.;
RT "A newly discovered human alpha-globin gene.";
RL Blood 106:1466-1472(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=16728641; DOI=10.1126/science.1126431;
RA De Gobbi M., Viprakasit V., Hughes J.R., Fisher C., Buckle V.J.,
RA Ayyub H., Gibbons R.J., Vernimmen D., Yoshinaga Y., de Jong P.,
RA Cheng J.-F., Rubin E.M., Wood W.G., Bowden D., Higgs D.R.;
RT "A regulatory SNP causes a human genetic disease by creating a new
RT transcriptional promoter.";
RL Science 312:1215-1217(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
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).
CC -!- TISSUE SPECIFICITY: Expressed in erythroid tissues.
CC -!- DEVELOPMENTAL STAGE: Maximal expression during the erythroblast
CC terminal differentiation.
CC -!- SIMILARITY: Belongs to the globin 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; AY698022; AAT92513.1; -; mRNA.
DR EMBL; DQ431198; ABD95909.1; -; Genomic_DNA.
DR EMBL; BC035682; AAH35682.1; -; mRNA.
DR RefSeq; NP_001003938.1; NM_001003938.3.
DR UniGene; Hs.647389; -.
DR ProteinModelPortal; Q6B0K9; -.
DR SMR; Q6B0K9; 1-141.
DR STRING; 9606.ENSP00000349270; -.
DR DMDM; 74748384; -.
DR PaxDb; Q6B0K9; -.
DR PRIDE; Q6B0K9; -.
DR Ensembl; ENST00000356815; ENSP00000349270; ENSG00000206177.
DR GeneID; 3042; -.
DR KEGG; hsa:3042; -.
DR UCSC; uc002cfu.1; human.
DR CTD; 3042; -.
DR GeneCards; GC16P000203; -.
DR HGNC; HGNC:4826; HBM.
DR MIM; 609639; gene.
DR neXtProt; NX_Q6B0K9; -.
DR PharmGKB; PA29201; -.
DR eggNOG; NOG326767; -.
DR HOGENOM; HOG000036867; -.
DR HOVERGEN; HBG009709; -.
DR InParanoid; Q6B0K9; -.
DR KO; K13828; -.
DR OMA; AGHEAPF; -.
DR OrthoDB; EOG7KH9MP; -.
DR GenomeRNAi; 3042; -.
DR NextBio; 12044; -.
DR PRO; PR:Q6B0K9; -.
DR Bgee; Q6B0K9; -.
DR Genevestigator; Q6B0K9; -.
DR GO; GO:0005833; C:hemoglobin complex; IEA:InterPro.
DR GO; GO:0020037; F:heme binding; IEA:InterPro.
DR GO; GO:0005506; F:iron ion binding; IEA:InterPro.
DR GO; GO:0019825; F:oxygen binding; IEA:InterPro.
DR GO; GO:0005344; F:oxygen transporter activity; IEA:UniProtKB-KW.
DR Gene3D; 1.10.490.10; -; 1.
DR InterPro; IPR000971; Globin.
DR InterPro; IPR009050; Globin-like.
DR InterPro; IPR012292; Globin_dom.
DR InterPro; IPR002338; Haemoglobin_a.
DR Pfam; PF00042; Globin; 1.
DR PRINTS; PR00612; ALPHAHAEM.
DR SUPFAM; SSF46458; SSF46458; 1.
DR PROSITE; PS01033; GLOBIN; 1.
PE 2: Evidence at transcript level;
KW Complete proteome; Heme; Iron; Metal-binding; Oxygen transport;
KW Reference proteome; Transport.
FT CHAIN 1 141 Hemoglobin subunit mu.
FT /FTId=PRO_0000282855.
FT METAL 58 58 Iron (heme distal ligand) (By
FT similarity).
FT METAL 87 87 Iron (heme proximal ligand) (By
FT similarity).
SQ SEQUENCE 141 AA; 15618 MW; 6864266BBE841516 CRC64;
MLSAQERAQI AQVWDLIAGH EAQFGAELLL RLFTVYPSTK VYFPHLSACQ DATQLLSHGQ
RMLAAVGAAV QHVDNLRAAL SPLADLHALV LRVDPANFPL LIQCFHVVLA SHLQDEFTVQ
MQAAWDKFLT GVAVVLTEKY R
//
MIM
609639
*RECORD*
*FIELD* NO
609639
*FIELD* TI
*609639 HEMOGLOBIN MU
;;HBM
*FIELD* TX
CLONING
Using postgenomic approaches to examine the transcriptional profiles of
read morehuman reticulocytes, Goh et al. (2005) characterized a previously
undefined transcript representing an unrecognized globin gene that
showed homology to the pseudo-HbA2 region within the alpha-globin locus
(see 141800) on chromosome 16p13.3. Cloning and sequencing of that
transcript, named hemoglobin (Hb) mu (HBM), revealed an insert with a
423-nucleotide open reading frame. The predicted protein demonstrated a
high level of homology with the avian alpha-D globin. In addition, the
heme- and globin-binding amino acids of mu-globin and avian alpha-D
globin were largely conserved. Using quantitative real-time PCR,
mu-globin was detected at a level of approximately 0.1% of that measured
for alpha-globin in erythroid tissues. Erythroid-specific expression was
detected by Northern blot analysis, and maximal expression during the
erythroblast terminal differentiation was also detected. Despite this
highly regulated pattern of mu-globin gene transcription, mu-globin
protein was not detected by mass spectrometry. These results suggested
that the human genome encodes a previously unrecognized globin member of
the avian alpha-D family that is transcribed in a highly regulated
pattern in erythroid cells.
GENE FUNCTION
Goh et al. (2005) commented that it is curious that mu-globin is not the
only gene in the human alpha-globin cluster that lacks a detectable
hemoglobin product. The downstream region of the alpha locus contains an
unusual gene named theta-globin (HbQ1; 142240) that generates no
detected globin protein in humans. Theta-globin gene transcription is
regulated, and the transcripts contain no obvious defects to explain the
lack of detectable protein in erythroid tissues. Both the HBM and HbQ1
genes are well conserved at the genomic level, and both have a highly
regulated pattern of transcription in erythroid cells. It was uncertain
whether the HBM gene is evolving toward becoming a pseudogene; Goh et
al. (2005) raised the possibility that instead, this ancient globin has
a function for which high-level protein expression is not required.
GENE STRUCTURE
Goh et al. (2005) determined that the HBM gene has a 3-exon structure
similar to that of other human hemoglobin alpha genes.
MAPPING
The HBM gene maps to the alpha-globin region on chromosome 16p13.3,
overlapping the pseudo-Hb2 gene (Goh et al., 2005).
*FIELD* RF
1. Goh, S.-H.; Lee, Y. T.; Bhanu, N. V.; Cam, M. C.; Desper, R.; Martin,
B. M.; Moharram, R.; Gherman, R. B.; Miller, J. L.: A newly discovered
human alpha-globin gene. Blood 106: 1466-1472, 2005.
*FIELD* CD
Victor A. McKusick: 10/10/2005
*FIELD* ED
alopez: 10/10/2005
*RECORD*
*FIELD* NO
609639
*FIELD* TI
*609639 HEMOGLOBIN MU
;;HBM
*FIELD* TX
CLONING
Using postgenomic approaches to examine the transcriptional profiles of
read morehuman reticulocytes, Goh et al. (2005) characterized a previously
undefined transcript representing an unrecognized globin gene that
showed homology to the pseudo-HbA2 region within the alpha-globin locus
(see 141800) on chromosome 16p13.3. Cloning and sequencing of that
transcript, named hemoglobin (Hb) mu (HBM), revealed an insert with a
423-nucleotide open reading frame. The predicted protein demonstrated a
high level of homology with the avian alpha-D globin. In addition, the
heme- and globin-binding amino acids of mu-globin and avian alpha-D
globin were largely conserved. Using quantitative real-time PCR,
mu-globin was detected at a level of approximately 0.1% of that measured
for alpha-globin in erythroid tissues. Erythroid-specific expression was
detected by Northern blot analysis, and maximal expression during the
erythroblast terminal differentiation was also detected. Despite this
highly regulated pattern of mu-globin gene transcription, mu-globin
protein was not detected by mass spectrometry. These results suggested
that the human genome encodes a previously unrecognized globin member of
the avian alpha-D family that is transcribed in a highly regulated
pattern in erythroid cells.
GENE FUNCTION
Goh et al. (2005) commented that it is curious that mu-globin is not the
only gene in the human alpha-globin cluster that lacks a detectable
hemoglobin product. The downstream region of the alpha locus contains an
unusual gene named theta-globin (HbQ1; 142240) that generates no
detected globin protein in humans. Theta-globin gene transcription is
regulated, and the transcripts contain no obvious defects to explain the
lack of detectable protein in erythroid tissues. Both the HBM and HbQ1
genes are well conserved at the genomic level, and both have a highly
regulated pattern of transcription in erythroid cells. It was uncertain
whether the HBM gene is evolving toward becoming a pseudogene; Goh et
al. (2005) raised the possibility that instead, this ancient globin has
a function for which high-level protein expression is not required.
GENE STRUCTURE
Goh et al. (2005) determined that the HBM gene has a 3-exon structure
similar to that of other human hemoglobin alpha genes.
MAPPING
The HBM gene maps to the alpha-globin region on chromosome 16p13.3,
overlapping the pseudo-Hb2 gene (Goh et al., 2005).
*FIELD* RF
1. Goh, S.-H.; Lee, Y. T.; Bhanu, N. V.; Cam, M. C.; Desper, R.; Martin,
B. M.; Moharram, R.; Gherman, R. B.; Miller, J. L.: A newly discovered
human alpha-globin gene. Blood 106: 1466-1472, 2005.
*FIELD* CD
Victor A. McKusick: 10/10/2005
*FIELD* ED
alopez: 10/10/2005