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CYB5D1 cytochrome b5 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 124637, updated on 11-Jun-2021

Summary

Official Symbol
CYB5D1provided by HGNC
Official Full Name
cytochrome b5 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26516
See related
Ensembl:ENSG00000182224
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in thyroid (RPKM 10.7), kidney (RPKM 7.2) and 25 other tissues See more
Orthologs
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Genomic context

See CYB5D1 in Genome Data Viewer
Location:
17p13.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (7858003..7862282)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7761321..7765600)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4002 Neighboring gene transmembrane protein 88 Neighboring gene N-alpha-acetyltransferase 38, NatC auxiliary subunit Neighboring gene chromodomain helicase DNA binding protein 3 Neighboring gene small Cajal body-specific RNA 21 Neighboring gene ring finger protein 227

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32499

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cytochrome b5 domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001330110.2NP_001317039.1  cytochrome b5 domain-containing protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, resulting in a frameshift and an early stop codon compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC104581, BC060779
    Consensus CDS
    CCDS82061.1
    UniProtKB/Swiss-Prot
    Q6P9G0
    Related
    ENSP00000459369.1, ENST00000571846.5
    Conserved Domains (1) summary
    pfam00173
    Location:2170
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
  2. NM_144607.6NP_653208.2  cytochrome b5 domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_653208.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC104581, AK289520, BC060779
    Consensus CDS
    CCDS11123.1
    UniProtKB/Swiss-Prot
    Q6P9G0
    Related
    ENSP00000331479.4, ENST00000332439.5
    Conserved Domains (1) summary
    pfam00173
    Location:2170
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    7858003..7862282
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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