ID HBAZ_HUMAN Reviewed; 142 AA. AC P02008; DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot. DT 23-JAN-2007, sequence version 2. DT 03-NOV-2009, entry version 107. DE RecName: Full=Hemoglobin subunit zeta; DE AltName: Full=Hemoglobin zeta chain; DE AltName: Full=Zeta-globin; DE AltName: Full=HBAZ; GN Name=HBZ; Synonyms=HBZ2; 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 [GENOMIC DNA]. RX MEDLINE=83129370; PubMed=6297773; DOI=10.1016/0092-8674(82)90311-7; RA Proudfoot N.J., Gil A., Maniatis T.; RT "The structure of the human zeta-globin gene and a closely linked, RT nearly identical pseudogene."; RL Cell 31:553-563(1982). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA]. RX MEDLINE=83182021; PubMed=6963223; RA Cohen-Solal M., Authier B., Deriel J.K., Murnane M.J., Forget B.G.; RT "Cloning and nucleotide sequence analysis of human embryonic zeta- RT globin cDNA."; RL DNA 1:355-363(1982). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=97207643; PubMed=9054936; DOI=10.1038/ng0397-252; RA Flint J., Thomas K., Micklem G., Raynham H., Clark K., Doggett N.A., RA King A., Higgs D.R.; RT "The relationship between chromosome structure and function at a human RT telomeric region."; RL Nat. Genet. 15:252-257(1997). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX MEDLINE=21096910; PubMed=11157797; DOI=10.1093/hmg/10.4.339; RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., RA Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., RA Higgs D.R.; RT "Sequence, structure and pathology of the fully annotated terminal 2 RT Mb of the short arm of human chromosome 16."; RL Hum. Mol. Genet. 10:339-352(2001). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Pancreas, and Spleen; 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 [6] RP PROTEIN SEQUENCE OF 2-142. RX MEDLINE=82263314; PubMed=6179844; RA Aschauer H., Sanguansermsri T., Braunitzer G.; RT "Human embryonic haemoglobins. The primary structure of the zeta RT chains."; RL Hoppe-Seyler's Z. Physiol. Chem. 362:1159-1162(1981). RN [7] RP PROTEIN SEQUENCE OF 2-142. RX MEDLINE=82082400; PubMed=6171809; DOI=10.1073/pnas.78.10.6076; RA Clegg J.B., Gagnon J.; RT "Structure of the zeta chain of human embryonic hemoglobin."; RL Proc. Natl. Acad. Sci. U.S.A. 78:6076-6080(1981). RN [8] RP ACETYLATION AT SER-2. RX MEDLINE=82096755; PubMed=6172357; RA Aschauer H., Schaefer W., Sanguansermsri T., Braunitzer G.; RT "Human embryonic haemoglobins. Ac-Ser-Leu-Thr-is the N-terminal RT sequence of the zeta-chains."; RL Hoppe-Seyler's Z. Physiol. Chem. 362:1657-1659(1981). RN [9] RP IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY. RA Colinge J., Superti-Furga G., Bennett K.L.; RL Submitted (OCT-2008) to UniProtKB. CC -!- FUNCTION: The zeta chain is an alpha-type chain of mammalian CC embryonic hemoglobin, synthesized primarily in the yolk sac. CC -!- SUBUNIT: Heterotetramer of two zeta chains and two epsilon chains CC in early embryonic hemoglobin Gower-1; two zeta chains and two CC gamma chains in hemoglobin Portland-1. CC -!- TISSUE SPECIFICITY: Red blood cells. CC -!- SIMILARITY: Belongs to the globin family. CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBZ"; 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; J00182; AAB59406.1; -; Genomic_DNA. DR EMBL; M24173; AAA61306.1; -; mRNA. DR EMBL; Z84721; CAB06552.1; -; Genomic_DNA. DR EMBL; AE006462; AAK61214.1; -; Genomic_DNA. DR EMBL; BC027892; AAH27892.1; -; mRNA. DR IPI; IPI00217473; -. DR PIR; A90832; HZHU. DR RefSeq; NP_005323.1; -. DR UniGene; Hs.585357; -. DR PDB; 1JEB; X-ray; 2.10 A; A/C=2-141. DR PDBsum; 1JEB; -. DR IntAct; P02008; 1. DR STRING; P02008; -. DR PeptideAtlas; P02008; -. DR PRIDE; P02008; -. DR Ensembl; ENST00000252951; ENSP00000252951; ENSG00000130656; Homo sapiens. DR GeneID; 3050; -. DR KEGG; hsa:3050; -. DR UCSC; uc002cft.1; human. DR CTD; 3050; -. DR GeneCards; GC16P000142; -. DR H-InvDB; HIX0059559; -. DR HGNC; HGNC:4835; HBZ. DR MIM; 142310; gene. DR Orphanet; 846; Alpha-thalassemia. DR Orphanet; 93615; Hemoglobin Constant Spring. DR Orphanet; 93616; Hemoglobin H disease. DR Orphanet; 163596; Hydrops fetalis of Barts. DR PharmGKB; PA29212; -. DR HOGENOM; P02008; -. DR HOVERGEN; P02008; -. DR OMA; LFASYPQ; -. DR NextBio; 12075; -. DR ArrayExpress; P02008; -. DR Bgee; P02008; -. DR CleanEx; HS_HBZ; -. DR Genevestigator; P02008; -. DR GermOnline; ENSG00000130656; Homo sapiens. DR GO; GO:0005833; C:hemoglobin complex; TAS:ProtInc. DR GO; GO:0020037; F:heme binding; IEA:InterPro. DR GO; GO:0019825; F:oxygen binding; IEA:InterPro. DR GO; GO:0005344; F:oxygen transporter activity; TAS:ProtInc. DR GO; GO:0015671; P:oxygen transport; IEA:UniProtKB-KW. DR InterPro; IPR000971; Globin_subset. DR InterPro; IPR002338; Haemoglobin_a. DR InterPro; IPR002340; Haemoglobin_zeta. DR Pfam; PF00042; Globin; 1. DR PRINTS; PR00612; ALPHAHAEM. DR PRINTS; PR00816; ZETAHAEM. DR PROSITE; PS01033; GLOBIN; 1. PE 1: Evidence at protein level; KW 3D-structure; Acetylation; Complete proteome; KW Direct protein sequencing; Heme; Iron; Metal-binding; KW Oxygen transport; Transport. FT INIT_MET 1 1 Removed. FT CHAIN 2 142 Hemoglobin subunit zeta. FT /FTId=PRO_0000052851. FT METAL 59 59 Iron (heme distal ligand). FT METAL 88 88 Iron (heme proximal ligand). FT MOD_RES 2 2 N-acetylserine. FT HELIX 5 18 FT HELIX 22 36 FT HELIX 38 43 FT HELIX 54 72 FT TURN 73 75 FT HELIX 77 80 FT HELIX 82 90 FT HELIX 97 113 FT TURN 115 117 FT HELIX 120 138 FT HELIX 139 141 SQ SEQUENCE 142 AA; 15637 MW; B62A9B825743A155 CRC64; MSLTKTERTI IVSMWAKIST QADTIGTETL ERLFLSHPQT KTYFPHFDLH PGSAQLRAHG SKVVAAVGDA VKSIDDIGGA LSKLSELHAY ILRVDPVNFK LLSHCLLVTL AARFPADFTA EAHAAWDKFL SVVSSVLTEK YR //