Cachd1
entrez
320508
canonical
uniprot
Q6PDJ1
canonical
ensembl
ENSMUSG00000028532
resolver
ensp
ENSMUSP00000030257
resolver
genesymbol
Cachd1
resolver
genesymbol_syn
Kiaa1573
resolver
genesymbol_syn
Vwcd1
resolver
uniprot
A2A8W3
resolver
uniprot
Q6PFZ0
resolver
uniprot
Q6ZPM4
resolver
uniprot
Q8BNP3
resolver
uniprot_entry
CAHD1_MOUSE
resolver
uniprot_sec
A2A8W3
resolver
uniprot_sec
Q6PFZ0
resolver
uniprot_sec
Q6ZPM4
resolver
uniprot_sec
Q8BNP3
resolver
amino_acid_sequence
MAREPEEEETVRPAAVVRRCPRCPGWPGAPRPPLWLLCLVACWILGAVADADFSILDEAQVLASQMRRLAAEELGVVTMQRIFNSLVYTEKISNGESEVQQLAKKIREKFNRYLDVVNRNKQVVEASYTAHLTSPLTAIQDCCTIPPSMMEFDGNFNTNVSRTVSCDRLSTTVNSRAFNPGRDLNSVLADNLKSNPGIKWQYFSSEEGIFTVFPAHKFRCKGSYEHRSRPIYVSTVRPQSKHIVVILDHGASVTDTQLQIAKDAAQVILSAIDEHDKISVLTVADAVRTCSLDQCYKTYLSPATSETKRKMSTFVSSVKPSDSPTQHAVGFHRAFQLIRSTSNSTRFQANTDMVIIYLSAGITSKDSSEEDKKATLRVINEENGFLNNSVMILTYALMNDGVTGLKELAFLRDLAEQNSGKYGIPDRTALPVIKGSMMVLNQLSNLETTVGRFYTNLPNRMIDEAVFSLPFSDEMGDGLIMTVSKPCYFGNLLLGIVGVDVNLAYILEDVTYYQDSLASYTFLIDDKGYTLMHPSLTRPYLLSEPPLHTDIIHYENIPKFELVRQNILSLPLGSQIITVPVNSSLSWHINKLRETGKEAYNVSYAWKMVQDTSFILCIVVIQPEIPVKQLKNLNTVPSSKLLYHRLDLLGQPSACLHFKQLATLESPTVMLSAGSFSSPYEHLSQPETKRMVEHYTAYLSDNTRLIANPGLKFSVRNEVMATSHVTDEWMTQMEMSSLNTYIVRRYIATPNGVLRIYPGSLMDKAFDPTRRQWYLHAVANPGLISLTGPYLDVGGAGYVVTISHTIHSSSTQLSSGHTVAVMGIDFTLRYFYKVLMDLLPVCNQDGGNKIRCFIMEDRGYLVAHPTLVDPKGHAPLEQQHITHKEPLVANDILNHPNFVKKNLCNSFSDRTVQRSYKFNTSLVGDLTNLVHGSHCSKYRLTRIPGTNAFVGIVNETCDSLAFCACSMVDRLCLNCHRMEQNECECPCECPLEVNECTGNLTNAENRNPSCEVHQEPVTYTAIDPGLQDALQQCVNSRCNQRMESGDCFGVLDCEWCVVDSDGKTHLDKSYCAPQKECFGGIVGAKSPYVDDMGAIGDEVITLNMIKSAPVGPVAGGIMGCIMVLVLAVYAYRHQIHRRSHQHMSPLAAQEMSVRMSNLENDRDERDDDSHEDRGIISNTRFIAAVMERHVHSPERRRRYWGRSGTESDHGYSTMSPQEDSENPPCNNDPLSAGVDVGNHDDDLDLDTPPQTAALLSHKFHHYRPHHPTLHHSHHLQAAVTVHTVDAEC
uniprot
proteins
disease_involvement
DISEASE: Note=A spontaneous CACHD1 mutation p.Cys1053Tyr is responsible for the tilt-o-whirl phenotype (tow) characterized by circling behavior, vestibular deficits, and auditory dysfunction. {ECO:0000269|PubMed:34388681}.
uniprot
proteins
function
FUNCTION: Is a regulator of voltage-dependent calcium channels, modulating the activity of T-type calcium channels; it probably forms complexes with Cav3.1 at the cell surface and increases channel open probability (By similarity). Is also involved in the regulation of Wnt signaling, acting within a ternary complex as scaffold component that bridges FZD5 and LRP6 (PubMed:38696577). Plays a role in the regulation of neural progenitor cells proliferation and differentiation (By similarity). {ECO:0000250|UniProtKB:Q5VU97, ECO:0000269|PubMed:38696577}.
uniprot
proteins
mass_dalton
143812
uniprot
proteins
protein_family
Calcium channel subunit alpha-2/delta family
uniprot
proteins
pubmed
14621295
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
34388681
uniprot
proteins
pubmed
38696577
uniprot
proteins
sequence_length
1288
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q5VU97}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 1110..1130; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins