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

Gene ID: 124637, updated on 5-Mar-2024

Summary

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Official Symbol
CYB5D1provided by HGNC
Official Full Name
cytochrome b5 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26516
See related
Ensembl:ENSG00000182224 AllianceGenome:HGNC:26516
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
Summary
Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]
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

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Location:
17p13.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7858003..7862282)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7763329..7767608)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7761321..7765600)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene lysine demethylase 6B Neighboring gene uncharacterized LOC107987244 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:7754177-7755141 and GRCh37_chr17:7755142-7756105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7756106-7757070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7759303-7759840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11650 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7760574-7761436 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7761437-7762298 Neighboring gene transmembrane protein 88 Neighboring gene N-alpha-acetyltransferase 38, NatC auxiliary subunit Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7792539-7793108 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7797066-7798265 Neighboring gene chromodomain helicase DNA binding protein 3 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:7806009-7806616 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:7806617-7807223 Neighboring gene small Cajal body-specific RNA 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7818325-7819258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8148 Neighboring gene ring finger protein 227

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Heme-binding protein CYB5D1 is a radial spoke component required for coordinated ciliary beating. Zhao L, et al. Proc Natl Acad Sci U S A, 2021 Apr 27. PMID 33875586, Free PMC Article
  2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
  3. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. Bennett EJ, et al. Cell, 2010 Dec 10. PMID 21145461, Free PMC Article
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
Process Evidence Code Pubs
involved_in cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cilium beat frequency ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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_001330110.2 → NP_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:21 → 70
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

  2. NM_144607.6 → NP_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
    D3DTQ8, Q6P9G0, Q96DM7
    Related
    ENSP00000331479.4, ENST00000332439.5
    Conserved Domains (1) summary
    pfam00173
    Location:21 → 70
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    7763329..7767608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P9G0.1 GenPept UniProtKB/Swiss-Prot:Q6P9G0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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