HBM_HUMAN
ID HBM_HUMAN Reviewed; 141 AA.
AC Q6B0K9;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-SEP-2004, sequence version 1.
DT 03-AUG-2022, entry version 141.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL 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., Ayyub H.,
RA Gibbons R.J., Vernimmen D., Yoshinaga Y., de Jong P., Cheng J.-F.,
RA 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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC Q6B0K9; P68871: HBB; NbExp=3; IntAct=EBI-12805802, EBI-715554;
CC Q6B0K9; P69892: HBG2; NbExp=6; IntAct=EBI-12805802, EBI-3910089;
CC Q6B0K9; P02008: HBZ; NbExp=3; IntAct=EBI-12805802, EBI-719843;
CC Q6B0K9; Q12933: TRAF2; NbExp=3; IntAct=EBI-12805802, EBI-355744;
CC Q6B0K9; Q69YN4-4: VIRMA; NbExp=3; IntAct=EBI-12805802, EBI-18054817;
CC -!- TISSUE SPECIFICITY: Expressed in erythroid tissues.
CC {ECO:0000269|PubMed:15855277}.
CC -!- DEVELOPMENTAL STAGE: Maximal expression during the erythroblast
CC terminal differentiation. {ECO:0000269|PubMed:15855277}.
CC -!- SIMILARITY: Belongs to the globin family. {ECO:0000255|PROSITE-
CC ProRule:PRU00238}.
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DR EMBL; AY698022; AAT92513.1; -; mRNA.
DR EMBL; DQ431198; ABD95909.1; -; Genomic_DNA.
DR EMBL; BC035682; AAH35682.1; -; mRNA.
DR CCDS; CCDS32347.1; -.
DR RefSeq; NP_001003938.1; NM_001003938.3.
DR AlphaFoldDB; Q6B0K9; -.
DR SMR; Q6B0K9; -.
DR BioGRID; 109292; 24.
DR IntAct; Q6B0K9; 25.
DR STRING; 9606.ENSP00000349270; -.
DR BioMuta; HBM; -.
DR DMDM; 74748384; -.
DR jPOST; Q6B0K9; -.
DR MassIVE; Q6B0K9; -.
DR PaxDb; Q6B0K9; -.
DR PeptideAtlas; Q6B0K9; -.
DR PRIDE; Q6B0K9; -.
DR ProteomicsDB; 66208; -.
DR Antibodypedia; 55238; 36 antibodies from 13 providers.
DR DNASU; 3042; -.
DR Ensembl; ENST00000356815.4; ENSP00000349270.3; ENSG00000206177.7.
DR GeneID; 3042; -.
DR KEGG; hsa:3042; -.
DR MANE-Select; ENST00000356815.4; ENSP00000349270.3; NM_001003938.4; NP_001003938.1.
DR UCSC; uc002cfu.2; human.
DR CTD; 3042; -.
DR DisGeNET; 3042; -.
DR GeneCards; HBM; -.
DR HGNC; HGNC:4826; HBM.
DR HPA; ENSG00000206177; Tissue enriched (bone).
DR MIM; 609639; gene.
DR neXtProt; NX_Q6B0K9; -.
DR OpenTargets; ENSG00000206177; -.
DR PharmGKB; PA29201; -.
DR VEuPathDB; HostDB:ENSG00000206177; -.
DR eggNOG; KOG3378; Eukaryota.
DR GeneTree; ENSGT00940000163447; -.
DR HOGENOM; CLU_003827_10_2_1; -.
DR InParanoid; Q6B0K9; -.
DR OMA; EMHAAWD; -.
DR OrthoDB; 1379813at2759; -.
DR PhylomeDB; Q6B0K9; -.
DR TreeFam; TF332328; -.
DR PathwayCommons; Q6B0K9; -.
DR SignaLink; Q6B0K9; -.
DR BioGRID-ORCS; 3042; 13 hits in 1057 CRISPR screens.
DR ChiTaRS; HBM; human.
DR GenomeRNAi; 3042; -.
DR Pharos; Q6B0K9; Tdark.
DR PRO; PR:Q6B0K9; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q6B0K9; protein.
DR Bgee; ENSG00000206177; Expressed in trabecular bone tissue and 110 other tissues.
DR ExpressionAtlas; Q6B0K9; baseline and differential.
DR Genevisible; Q6B0K9; HS.
DR GO; GO:0031838; C:haptoglobin-hemoglobin complex; IBA:GO_Central.
DR GO; GO:0005833; C:hemoglobin complex; IBA:GO_Central.
DR GO; GO:0020037; F:heme binding; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0043177; F:organic acid binding; IBA:GO_Central.
DR GO; GO:0019825; F:oxygen binding; IBA:GO_Central.
DR GO; GO:0005344; F:oxygen carrier activity; IBA:GO_Central.
DR GO; GO:0098869; P:cellular oxidant detoxification; IEA:GOC.
DR GO; GO:0042744; P:hydrogen peroxide catabolic process; IBA:GO_Central.
DR CDD; cd08927; Hb-alpha-like; 1.
DR Gene3D; 1.10.490.10; -; 1.
DR InterPro; IPR000971; Globin.
DR InterPro; IPR009050; Globin-like_sf.
DR InterPro; IPR012292; Globin/Proto.
DR InterPro; IPR002338; Hemoglobin_a-typ.
DR Pfam; PF00042; Globin; 1.
DR PRINTS; PR00612; ALPHAHAEM.
DR SUPFAM; SSF46458; SSF46458; 1.
DR PROSITE; PS01033; GLOBIN; 1.
PE 1: Evidence at protein level;
KW Heme; Iron; Metal-binding; Oxygen transport; Reference proteome; Transport.
FT CHAIN 1..141
FT /note="Hemoglobin subunit mu"
FT /id="PRO_0000282855"
FT BINDING 58
FT /ligand="heme b"
FT /ligand_id="ChEBI:CHEBI:60344"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="distal binding residue"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00238"
FT BINDING 87
FT /ligand="heme b"
FT /ligand_id="ChEBI:CHEBI:60344"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="proximal binding residue"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00238"
SQ SEQUENCE 141 AA; 15618 MW; 6864266BBE841516 CRC64;
MLSAQERAQI AQVWDLIAGH EAQFGAELLL RLFTVYPSTK VYFPHLSACQ DATQLLSHGQ
RMLAAVGAAV QHVDNLRAAL SPLADLHALV LRVDPANFPL LIQCFHVVLA SHLQDEFTVQ
MQAAWDKFLT GVAVVLTEKY R
