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Protein

Cytochrome b5 domain-containing protein 1

Gene

CYB5D1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi52 – 521Iron (heme axial ligand)PROSITE-ProRule annotation
Metal bindingi83 – 831Iron (heme axial ligand)PROSITE-ProRule annotation

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

Heme, Iron, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome b5 domain-containing protein 1
Gene namesi
Name:CYB5D1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:26516. CYB5D1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672058.

Polymorphism and mutation databases

BioMutaiCYB5D1.
DMDMi74749152.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 228228Cytochrome b5 domain-containing protein 1PRO_0000312315Add
BLAST

Proteomic databases

PaxDbiQ6P9G0.
PeptideAtlasiQ6P9G0.
PRIDEiQ6P9G0.

PTM databases

iPTMnetiQ6P9G0.
PhosphoSiteiQ6P9G0.

Expressioni

Gene expression databases

BgeeiENSG00000182224.
CleanExiHS_CYB5D1.
ExpressionAtlasiQ6P9G0. baseline and differential.
GenevisibleiQ6P9G0. HS.

Organism-specific databases

HPAiHPA021632.

Interactioni

Protein-protein interaction databases

BioGridi125880. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ6P9G0.
SMRiQ6P9G0. Positions 18-113.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini17 – 10084Cytochrome b5 heme-bindingPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi199 – 2024Poly-Glu

Sequence similaritiesi

Belongs to the cytochrome b5 family.Curated
Contains 1 cytochrome b5 heme-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IMZU. Eukaryota.
ENOG410Z1IQ. LUCA.
GeneTreeiENSGT00440000037582.
HOGENOMiHOG000257188.
HOVERGENiHBG097053.
InParanoidiQ6P9G0.
OMAiDLTHFFH.
OrthoDBiEOG091G0H3V.
PhylomeDBiQ6P9G0.
TreeFamiTF324861.

Family and domain databases

Gene3Di3.10.120.10. 2 hits.
InterProiIPR001199. Cyt_B5-like_heme/steroid-bd.
[Graphical view]
PfamiPF00173. Cyt-b5. 1 hit.
[Graphical view]
SMARTiSM01117. Cyt-b5. 1 hit.
[Graphical view]
SUPFAMiSSF55856. SSF55856. 1 hit.
PROSITEiPS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6P9G0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPRRGLVAGP DLEYFQRRYF TPAEVAQHNR PEDLWVSYLG RVYDLTSLAQ
60 70 80 90 100
EYKGNLLLKP IVEVAGQDIS HWFDPKTRDI RKHIDPLTGC LRYCTPRGRF
110 120 130 140 150
VHVPPQLPCS DWANDFGKPW WQGSYYEVGR LSAKTRSIRI INTLTSQEHT
160 170 180 190 200
LEVGVLESIW EILHRYLPYN SHAASYTWKY EGKNLNMDFT LEENGIRDEE
210 220
EEFDYLSMDG TLHTPAILLY FNDDLTEL
Length:228
Mass (Da):26,689
Last modified:July 5, 2004 - v1
Checksum:i599D1F9362C79D0D
GO
Isoform 2 (identifier: Q6P9G0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     153-157: VGVLE → LHVEI
     158-228: Missing.

Show »
Length:157
Mass (Da):18,308
Checksum:i528F8B42349909F6
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201F → L.
Corresponds to variant rs12453250 [ dbSNP | Ensembl ].
VAR_037486

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei153 – 1575VGVLE → LHVEI in isoform 2. 1 PublicationVSP_029823
Alternative sequencei158 – 22871Missing in isoform 2. 1 PublicationVSP_029824Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057061 mRNA. Translation: BAB71357.1.
AK289520 mRNA. Translation: BAF82209.1.
CH471108 Genomic DNA. Translation: EAW90119.1.
CH471108 Genomic DNA. Translation: EAW90122.1.
CH471108 Genomic DNA. Translation: EAW90121.1.
BC060779 mRNA. Translation: AAH60779.1.
CCDSiCCDS11123.1. [Q6P9G0-1]
RefSeqiNP_653208.2. NM_144607.4. [Q6P9G0-1]
XP_005256497.1. XM_005256440.3. [Q6P9G0-2]
UniGeneiHs.27475.

Genome annotation databases

EnsembliENST00000332439; ENSP00000331479; ENSG00000182224. [Q6P9G0-1]
ENST00000571846; ENSP00000459369; ENSG00000182224. [Q6P9G0-2]
GeneIDi124637.
KEGGihsa:124637.
UCSCiuc002gjb.5. human. [Q6P9G0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057061 mRNA. Translation: BAB71357.1.
AK289520 mRNA. Translation: BAF82209.1.
CH471108 Genomic DNA. Translation: EAW90119.1.
CH471108 Genomic DNA. Translation: EAW90122.1.
CH471108 Genomic DNA. Translation: EAW90121.1.
BC060779 mRNA. Translation: AAH60779.1.
CCDSiCCDS11123.1. [Q6P9G0-1]
RefSeqiNP_653208.2. NM_144607.4. [Q6P9G0-1]
XP_005256497.1. XM_005256440.3. [Q6P9G0-2]
UniGeneiHs.27475.

3D structure databases

ProteinModelPortaliQ6P9G0.
SMRiQ6P9G0. Positions 18-113.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125880. 1 interaction.

PTM databases

iPTMnetiQ6P9G0.
PhosphoSiteiQ6P9G0.

Polymorphism and mutation databases

BioMutaiCYB5D1.
DMDMi74749152.

Proteomic databases

PaxDbiQ6P9G0.
PeptideAtlasiQ6P9G0.
PRIDEiQ6P9G0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332439; ENSP00000331479; ENSG00000182224. [Q6P9G0-1]
ENST00000571846; ENSP00000459369; ENSG00000182224. [Q6P9G0-2]
GeneIDi124637.
KEGGihsa:124637.
UCSCiuc002gjb.5. human. [Q6P9G0-1]

Organism-specific databases

CTDi124637.
GeneCardsiCYB5D1.
HGNCiHGNC:26516. CYB5D1.
HPAiHPA021632.
neXtProtiNX_Q6P9G0.
PharmGKBiPA142672058.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IMZU. Eukaryota.
ENOG410Z1IQ. LUCA.
GeneTreeiENSGT00440000037582.
HOGENOMiHOG000257188.
HOVERGENiHBG097053.
InParanoidiQ6P9G0.
OMAiDLTHFFH.
OrthoDBiEOG091G0H3V.
PhylomeDBiQ6P9G0.
TreeFamiTF324861.

Miscellaneous databases

ChiTaRSiCYB5D1. human.
GenomeRNAii124637.
PROiQ6P9G0.

Gene expression databases

BgeeiENSG00000182224.
CleanExiHS_CYB5D1.
ExpressionAtlasiQ6P9G0. baseline and differential.
GenevisibleiQ6P9G0. HS.

Family and domain databases

Gene3Di3.10.120.10. 2 hits.
InterProiIPR001199. Cyt_B5-like_heme/steroid-bd.
[Graphical view]
PfamiPF00173. Cyt-b5. 1 hit.
[Graphical view]
SMARTiSM01117. Cyt-b5. 1 hit.
[Graphical view]
SUPFAMiSSF55856. SSF55856. 1 hit.
PROSITEiPS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCB5D1_HUMAN
AccessioniPrimary (citable) accession number: Q6P9G0
Secondary accession number(s): D3DTQ8, Q96DM7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: July 5, 2004
Last modified: September 7, 2016
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.