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

    Gene ID: 124637, updated on 10-Dec-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. Predicted to be involved in cilium movement and regulation of cilium beat frequency. Predicted to be located in cell projection; cytoplasm; and cytoskeleton. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.7), kidney (RPKM 7.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYB5D1 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7858003..7862282)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7763329..7767608)
    RS_2024_09 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)

    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_2024_08

    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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