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CACHD1 cache domain containing 1 [ Homo sapiens (human) ]

Gene ID: 57685, updated on 3-Apr-2024

Summary

Official Symbol
CACHD1provided by HGNC
Official Full Name
cache domain containing 1provided by HGNC
Primary source
HGNC:HGNC:29314
See related
Ensembl:ENSG00000158966 MIM:620144; AllianceGenome:HGNC:29314
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 voltage-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport. Predicted to be integral component of membrane. Predicted to be part of voltage-gated calcium channel complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 11.0), adrenal (RPKM 7.8) and 23 other tissues See more
Orthologs
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Genomic context

See CACHD1 in Genome Data Viewer
Location:
1p31.3
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (64470129..64693053)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (64347926..64571142)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (64935812..65158736)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene U7 small nuclear RNA Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:64868467-64869666 Neighboring gene RNA, U7 small nuclear 62 pseudogene Neighboring gene uncharacterized LOC107984966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 955 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:64937941-64938726 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:64938727-64939512 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:64959581-64960226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:64970443-64970942 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:64982487-64983302 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:64983303-64984116 Neighboring gene NANOG hESC enhancer GRCh37_chr1:65011650-65012151 Neighboring gene uncharacterized LOC124904195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:65037847-65038552 Neighboring gene microRNA 4794 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:65129441-65129616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 957 Neighboring gene ribonucleoprotein, PTB binding 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1129 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:65326691-65327236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1134 Neighboring gene Janus kinase 1 Neighboring gene Sharpr-MPRA regulatory region 6411 Neighboring gene NDUFA4, mitochondrial complex associated pseudogene

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA1573

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
VWFA and cache domain-containing protein 1
Names
cache domain-containing protein 1
von Willebrand factor type A and cache domain containing 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_001293274.2NP_001280203.1  VWFA and cache domain-containing protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK022571, AL355515, AL590405, BC039301, BX537603
    UniProtKB/TrEMBL
    A0A3B3ISH2
    Related
    ENST00000495994.5
  2. NM_020925.4NP_065976.3  VWFA and cache domain-containing protein 1 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC099678, AL355515, AL590405
    Consensus CDS
    CCDS628.3
    UniProtKB/Swiss-Prot
    Q49AE9, Q5VU97, Q658T4, Q7Z3P2, Q9H7W4, Q9H9W3, Q9HCJ9
    UniProtKB/TrEMBL
    A0A0A0MQY7
    Related
    ENSP00000498498.1, ENST00000651257.2
    Conserved Domains (2) summary
    pfam08399
    Location:95204
    VWA_N; VWA N-terminal
    cl00057
    Location:213408
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    64470129..64693053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426234.1XP_047282190.1  VWFA and cache domain-containing protein 1 isoform X1

  2. XM_047426235.1XP_047282191.1  VWFA and cache domain-containing protein 1 isoform X2

    Related
    ENST00000470527.1
  3. XM_011541862.2XP_011540164.1  VWFA and cache domain-containing protein 1 isoform X3

    UniProtKB/TrEMBL
    A0A3B3ISH2
    Related
    ENSP00000497279.1, ENST00000650260.1
    Conserved Domains (3) summary
    pfam02743
    Location:342409
    Cache_1; Cache domain
    pfam08399
    Location:2590
    VWA_N; VWA N-terminal
    cl00057
    Location:99294
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    64347926..64571142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337905.1XP_054193880.1  VWFA and cache domain-containing protein 1 isoform X1

  2. XM_054337906.1XP_054193881.1  VWFA and cache domain-containing protein 1 isoform X2

  3. XM_054337904.1XP_054193879.1  VWFA and cache domain-containing protein 1 isoform X4

  4. XM_054337907.1XP_054193882.1  VWFA and cache domain-containing protein 1 isoform X3