CB5D1_HUMAN
ID CB5D1_HUMAN Reviewed; 228 AA.
AC Q6P9G0; D3DTQ8; Q96DM7;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Cytochrome b5 domain-containing protein 1;
GN Name=CYB5D1;
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 [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6P9G0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6P9G0-2; Sequence=VSP_029823, VSP_029824;
CC -!- SIMILARITY: Belongs to the cytochrome b5 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK057061; BAB71357.1; -; mRNA.
DR EMBL; AK289520; BAF82209.1; -; mRNA.
DR EMBL; CH471108; EAW90119.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW90122.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW90121.1; -; Genomic_DNA.
DR EMBL; BC060779; AAH60779.1; -; mRNA.
DR CCDS; CCDS11123.1; -. [Q6P9G0-1]
DR CCDS; CCDS82061.1; -. [Q6P9G0-2]
DR RefSeq; NP_001317039.1; NM_001330110.1. [Q6P9G0-2]
DR RefSeq; NP_653208.2; NM_144607.5. [Q6P9G0-1]
DR AlphaFoldDB; Q6P9G0; -.
DR SMR; Q6P9G0; -.
DR BioGRID; 125880; 2.
DR IntAct; Q6P9G0; 1.
DR STRING; 9606.ENSP00000331479; -.
DR iPTMnet; Q6P9G0; -.
DR PhosphoSitePlus; Q6P9G0; -.
DR BioMuta; CYB5D1; -.
DR DMDM; 74749152; -.
DR MassIVE; Q6P9G0; -.
DR PaxDb; Q6P9G0; -.
DR PeptideAtlas; Q6P9G0; -.
DR PRIDE; Q6P9G0; -.
DR ProteomicsDB; 67043; -. [Q6P9G0-1]
DR ProteomicsDB; 67044; -. [Q6P9G0-2]
DR Antibodypedia; 12269; 88 antibodies from 16 providers.
DR DNASU; 124637; -.
DR Ensembl; ENST00000332439.5; ENSP00000331479.4; ENSG00000182224.12. [Q6P9G0-1]
DR Ensembl; ENST00000571846.5; ENSP00000459369.1; ENSG00000182224.12. [Q6P9G0-2]
DR GeneID; 124637; -.
DR KEGG; hsa:124637; -.
DR MANE-Select; ENST00000332439.5; ENSP00000331479.4; NM_144607.6; NP_653208.2.
DR UCSC; uc002gjb.5; human. [Q6P9G0-1]
DR CTD; 124637; -.
DR GeneCards; CYB5D1; -.
DR HGNC; HGNC:26516; CYB5D1.
DR HPA; ENSG00000182224; Low tissue specificity.
DR neXtProt; NX_Q6P9G0; -.
DR OpenTargets; ENSG00000182224; -.
DR PharmGKB; PA142672058; -.
DR VEuPathDB; HostDB:ENSG00000182224; -.
DR eggNOG; KOG0537; Eukaryota.
DR GeneTree; ENSGT00440000037582; -.
DR HOGENOM; CLU_131019_0_0_1; -.
DR InParanoid; Q6P9G0; -.
DR OMA; DLTHFFH; -.
DR OrthoDB; 1534331at2759; -.
DR PhylomeDB; Q6P9G0; -.
DR TreeFam; TF324861; -.
DR PathwayCommons; Q6P9G0; -.
DR SignaLink; Q6P9G0; -.
DR BioGRID-ORCS; 124637; 14 hits in 1078 CRISPR screens.
DR ChiTaRS; CYB5D1; human.
DR GenomeRNAi; 124637; -.
DR Pharos; Q6P9G0; Tdark.
DR PRO; PR:Q6P9G0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6P9G0; protein.
DR Bgee; ENSG00000182224; Expressed in right uterine tube and 100 other tissues.
DR ExpressionAtlas; Q6P9G0; baseline and differential.
DR Genevisible; Q6P9G0; HS.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR Gene3D; 3.10.120.10; -; 1.
DR InterPro; IPR001199; Cyt_B5-like_heme/steroid-bd.
DR InterPro; IPR036400; Cyt_B5-like_heme/steroid_sf.
DR Pfam; PF00173; Cyt-b5; 1.
DR SMART; SM01117; Cyt-b5; 1.
DR SUPFAM; SSF55856; SSF55856; 1.
DR PROSITE; PS50255; CYTOCHROME_B5_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Heme; Iron; Metal-binding; Reference proteome.
FT CHAIN 1..228
FT /note="Cytochrome b5 domain-containing protein 1"
FT /id="PRO_0000312315"
FT DOMAIN 17..100
FT /note="Cytochrome b5 heme-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00279"
FT BINDING 52
FT /ligand="heme"
FT /ligand_id="ChEBI:CHEBI:30413"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="axial binding residue"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00279"
FT BINDING 83
FT /ligand="heme"
FT /ligand_id="ChEBI:CHEBI:30413"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="axial binding residue"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00279"
FT VAR_SEQ 153..157
FT /note="VGVLE -> LHVEI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029823"
FT VAR_SEQ 158..228
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029824"
FT VARIANT 20
FT /note="F -> L (in dbSNP:rs12453250)"
FT /id="VAR_037486"
SQ SEQUENCE 228 AA; 26689 MW; 599D1F9362C79D0D CRC64;
MPRRGLVAGP DLEYFQRRYF TPAEVAQHNR PEDLWVSYLG RVYDLTSLAQ EYKGNLLLKP
IVEVAGQDIS HWFDPKTRDI RKHIDPLTGC LRYCTPRGRF VHVPPQLPCS DWANDFGKPW
WQGSYYEVGR LSAKTRSIRI INTLTSQEHT LEVGVLESIW EILHRYLPYN SHAASYTWKY
EGKNLNMDFT LEENGIRDEE EEFDYLSMDG TLHTPAILLY FNDDLTEL
