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

Gene ID: 57685, updated on 8-Oct-2019

Summary

Official Symbol
CACHD1provided by HGNC
Official Full Name
cache domain containing 1provided by HGNC
Primary source
HGNC:HGNC:29314
See related
Ensembl:ENSG00000158966
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 ovary (RPKM 11.0), adrenal (RPKM 7.8) and 23 other tissues See more
Orthologs

Genomic context

See CACHD1 in Genome Data Viewer
Location:
1p31.3
Exon count:
28
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (64470129..64693058)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (64936476..65158741)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378774 Neighboring gene RNA, U7 small nuclear 62 pseudogene Neighboring gene uncharacterized LOC107984966 Neighboring gene microRNA 4794 Neighboring gene ribonucleoprotein, PTB binding 2 Neighboring gene Janus kinase 1 Neighboring gene Sharpr-MPRA regulatory region 6411

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1573

Gene Ontology Provided by GOA

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

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)

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_001293274.1NP_001280203.1  VWFA and cache domain-containing protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK022571, AL355515, AL590405, BC039301, BX537603
    UniProtKB/Swiss-Prot
    Q5VU97
  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
    CCDS628.2
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    64470129..64693058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541863.1XP_011540165.1  VWFA and cache domain-containing protein 1 isoform X2

    Related
    ENSP00000497279.1, ENST00000650260.1
    Conserved Domains (3) summary
    pfam02743
    Location:322389
    Cache_1; Cache domain
    pfam08399
    Location:170
    VWA_N; VWA N-terminal
    cl00057
    Location:79274
    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 ...
  2. XM_011541862.1XP_011540164.1  VWFA and cache domain-containing protein 1 isoform X1

    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 ...
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