Cachd1 cache domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cachd1provided by MGI
Official Full Name: cache domain containing 1provided by MGI
Primary source: MGI:MGI:2444177
See related: Ensembl:ENSMUSG00000028532 AllianceGenome:MGI:2444177
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Vwcd1; mKIAA1573; 1190007F10Rik; B430218L07Rik
Summary: Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in calcium ion transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in several structures, including genitourinary system; inner ear; lung; tooth; and ventricular layer. Orthologous to human CACHD1 (cache domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 17.5), limb E14.5 (RPKM 16.3) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C6; 4 45.76 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (100633870..100861741)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (100776679..101003749)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mouse brain proteomics establishes MDGA1 and CACHD1 as in vivo substrates of the Alzheimer protease BACE1.
Title: Mouse brain proteomics establishes MDGA1 and CACHD1 as in vivo substrates of the Alzheimer protease BACE1.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation
Spontaneous (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Y15798 (e-PCR)
- UniSTS:160304

D4Mit304 (e-PCR), detects polymorphism
- UniSTS:130096

AI852726 (e-PCR)
- UniSTS:179035

38.MHAa10h2.seq (e-PCR)
- UniSTS:124253

RH141163 (e-PCR)
- UniSTS:223159

RH136145 (e-PCR)
- UniSTS:210140

Gene Ontology Provided by MGI

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 transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of voltage-gated calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

NM_198037.2 → NP_932154.1 VWFA and cache domain-containing protein 1 precursor

See identical proteins and their annotated locations for NP_932154.1

Status: VALIDATED

Source sequence(s)

AL627083, AL670223

Consensus CDS

CCDS18391.1

UniProtKB/Swiss-Prot

A2A8W3, Q6PDJ1, Q6PFZ0, Q6ZPM4, Q8BNP3

UniProtKB/TrEMBL

Z4YK18

Related

ENSMUSP00000030257.9, ENSMUST00000030257.15

Conserved Domains (3) summary

pfam02743
Location:470 → 537

Cache_1; Cache domain

pfam08399
Location:103 → 218

VWA_N; VWA N-terminal

cl00057
Location:227 → 422

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 ...