HBAT_HUMAN
ID HBAT_HUMAN Reviewed; 142 AA.
AC P09105; Q13723; Q1W6G5;
DT 01-JUL-1989, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Hemoglobin subunit theta-1;
DE AltName: Full=Hemoglobin theta-1 chain;
DE AltName: Full=Theta-1-globin;
GN Name=HBQ1;
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 [GENOMIC DNA].
RX PubMed=3422341; DOI=10.1038/331094a0;
RA Hsu S.-L., Marks J., Shaw J.-P., Tam M., Higgs D.R., Shen C.C.,
RA Shen C.-K.J.;
RT "Structure and expression of the human theta 1 globin gene.";
RL Nature 331:94-96(1988).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=3408475; DOI=10.1007/bf00561460;
RA Gonzalez-Redondo J.M., Han I.S., Gu Y.C., Huisman T.H.J.;
RT "Nucleotide sequence of the human theta 1-globin gene.";
RL Biochem. Genet. 26:207-211(1988).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-14.
RC TISSUE=Liver;
RX PubMed=2569721; DOI=10.1093/nar/17.14.5687;
RA Kim J.H., Yu C.Y., Bailey A.D., Hardison R., Shen C.-K.J.;
RT "Unique sequence organization and erythroid cell-specific nuclear factor-
RT binding of mammalian theta 1 globin promoters.";
RL Nucleic Acids Res. 17:5687-5700(1989).
RN [7]
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., Buerckstuemmer T.,
RA 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 -!- INTERACTION:
CC P09105; O43865: AHCYL1; NbExp=6; IntAct=EBI-10193656, EBI-2371423;
CC P09105; P69905: HBA2; NbExp=3; IntAct=EBI-10193656, EBI-714680;
CC P09105; P68871: HBB; NbExp=3; IntAct=EBI-10193656, EBI-715554;
CC P09105; P02042: HBD; NbExp=6; IntAct=EBI-10193656, EBI-6152722;
CC P09105; P02100: HBE1; NbExp=3; IntAct=EBI-10193656, EBI-6190240;
CC P09105; P69892: HBG2; NbExp=3; IntAct=EBI-10193656, EBI-3910089;
CC P09105; P02008: HBZ; NbExp=3; IntAct=EBI-10193656, EBI-719843;
CC P09105; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-10193656, EBI-741158;
CC P09105; Q8TAC1: RFESD; NbExp=9; IntAct=EBI-10193656, EBI-10271664;
CC -!- SIMILARITY: Belongs to the globin family. {ECO:0000255|PROSITE-
CC ProRule:PRU00238}.
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DR EMBL; X06482; CAA29776.1; -; Genomic_DNA.
DR EMBL; M33022; AAA52640.1; -; Genomic_DNA.
DR EMBL; DQ431198; ABD95912.1; -; Genomic_DNA.
DR EMBL; AE006462; AAK61217.1; -; Genomic_DNA.
DR EMBL; BC056686; AAH56686.1; -; mRNA.
DR EMBL; M91453; AAA58362.1; -; Genomic_DNA.
DR CCDS; CCDS10400.1; -.
DR PIR; I52337; HTHU.
DR RefSeq; NP_005322.1; NM_005331.4.
DR AlphaFoldDB; P09105; -.
DR SMR; P09105; -.
DR BioGRID; 109299; 27.
DR IntAct; P09105; 9.
DR STRING; 9606.ENSP00000199708; -.
DR iPTMnet; P09105; -.
DR PhosphoSitePlus; P09105; -.
DR BioMuta; HBQ1; -.
DR DMDM; 122330; -.
DR MassIVE; P09105; -.
DR MaxQB; P09105; -.
DR PaxDb; P09105; -.
DR PeptideAtlas; P09105; -.
DR PRIDE; P09105; -.
DR ProteomicsDB; 52199; -.
DR Antibodypedia; 22527; 160 antibodies from 27 providers.
DR DNASU; 3049; -.
DR Ensembl; ENST00000199708.3; ENSP00000199708.2; ENSG00000086506.3.
DR GeneID; 3049; -.
DR KEGG; hsa:3049; -.
DR MANE-Select; ENST00000199708.3; ENSP00000199708.2; NM_005331.5; NP_005322.1.
DR UCSC; uc002cfz.4; human.
DR CTD; 3049; -.
DR DisGeNET; 3049; -.
DR GeneCards; HBQ1; -.
DR HGNC; HGNC:4833; HBQ1.
DR HPA; ENSG00000086506; Tissue enriched (bone).
DR MIM; 142240; gene.
DR neXtProt; NX_P09105; -.
DR OpenTargets; ENSG00000086506; -.
DR PharmGKB; PA29208; -.
DR VEuPathDB; HostDB:ENSG00000086506; -.
DR eggNOG; KOG3378; Eukaryota.
DR GeneTree; ENSGT00940000162598; -.
DR HOGENOM; CLU_003827_10_2_1; -.
DR InParanoid; P09105; -.
DR OMA; SPNMHAS; -.
DR OrthoDB; 1398217at2759; -.
DR PhylomeDB; P09105; -.
DR TreeFam; TF332328; -.
DR PathwayCommons; P09105; -.
DR SignaLink; P09105; -.
DR BioGRID-ORCS; 3049; 14 hits in 1073 CRISPR screens.
DR GeneWiki; HBQ1; -.
DR GenomeRNAi; 3049; -.
DR Pharos; P09105; Tbio.
DR PRO; PR:P09105; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; P09105; protein.
DR Bgee; ENSG00000086506; Expressed in blood and 106 other tissues.
DR ExpressionAtlas; P09105; baseline and differential.
DR Genevisible; P09105; 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:0005506; F:iron ion binding; IEA:InterPro.
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 GO; GO:0015671; P:oxygen transport; TAS:ProtInc.
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 InterPro; IPR002339; Hemoglobin_pi.
DR Pfam; PF00042; Globin; 1.
DR PRINTS; PR00612; ALPHAHAEM.
DR PRINTS; PR00815; PIHAEM.
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..142
FT /note="Hemoglobin subunit theta-1"
FT /id="PRO_0000052846"
FT BINDING 59
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 BINDING 88
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"
SQ SEQUENCE 142 AA; 15508 MW; 9D4F103D758694D6 CRC64;
MALSAEDRAL VRALWKKLGS NVGVYTTEAL ERTFLAFPAT KTYFSHLDLS PGSSQVRAHG
QKVADALSLA VERLDDLPHA LSALSHLHAC QLRVDPASFQ LLGHCLLVTL ARHYPGDFSP
ALQASLDKFL SHVISALVSE YR
