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

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Title: Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
CACHD1 increases the presence of CaV3.1 at the cell surface and causes an increase in channel open probability.
Title: CACHD1 is an α2δ-Like Protein That Modulates Ca(V)3 Voltage-Gated Calcium Channel Activity.
CACHD1: A new activity-modifying protein for voltage-gated calcium channels
Title: CACHD1: A new activity-modifying protein for voltage-gated calcium channels.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-74907 (e-PCR)
- UniSTS:53546

SHGC-74939 (e-PCR)
- UniSTS:15405

RH91887 (e-PCR)
- UniSTS:92973

RH122934 (e-PCR)
- UniSTS:135231

SHGC-82019 (e-PCR)
- UniSTS:102989

SHGC-156086 (e-PCR)
- UniSTS:182115

A009B41 (e-PCR)
- UniSTS:55419

D1S3164 (e-PCR)
- UniSTS:66947

SHGC-106872 (e-PCR)
- UniSTS:181891

G16067 (e-PCR)
- UniSTS:47273

G58143 (e-PCR)
- UniSTS:135344

SHGC-107550 (e-PCR)
- UniSTS:170422

SHGC-83932 (e-PCR)
- UniSTS:103613

RH102643 (e-PCR)
- UniSTS:96977

D1S3724 (e-PCR), detects polymorphism
- UniSTS:9687

SHGC-74941 (e-PCR)
- UniSTS:74467

G32395 (e-PCR)
- UniSTS:116983

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

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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)

NM_001293274.2 → NP_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
NM_020925.4 → NP_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:95 → 204

VWA_N; VWA N-terminal

cl00057
Location:213 → 408

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

64470129..64693053

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426234.1 → XP_047282190.1 VWFA and cache domain-containing protein 1 isoform X1
XM_047426235.1 → XP_047282191.1 VWFA and cache domain-containing protein 1 isoform X2

Related

ENST00000470527.1
XM_011541862.2 → XP_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:342 → 409

Cache_1; Cache domain

pfam08399
Location:25 → 90

VWA_N; VWA N-terminal

cl00057
Location:99 → 294

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

NC_060925.1 Alternate T2T-CHM13v2.0

Range

64347926..64571142

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054337905.1 → XP_054193880.1 VWFA and cache domain-containing protein 1 isoform X1
XM_054337906.1 → XP_054193881.1 VWFA and cache domain-containing protein 1 isoform X2
XM_054337904.1 → XP_054193879.1 VWFA and cache domain-containing protein 1 isoform X4
XM_054337907.1 → XP_054193882.1 VWFA and cache domain-containing protein 1 isoform X3