CACHD1
entrez
57685
canonical
uniprot
Q5VU97
canonical
ensembl
ENSG00000158966
resolver
ensp
ENSP00000290039
resolver
ensp
ENSP00000497279
resolver
ensp
ENSP00000498498
resolver
enst
ENST00000290039
resolver
genesymbol
CACHD1
resolver
genesymbol_syn
KIAA1573
resolver
genesymbol_syn
VWCD1
resolver
hgnc
HGNC:29314
resolver
uniprot
A0A0A0MQY7
resolver
uniprot
Q49AE9
resolver
uniprot
Q658T4
resolver
uniprot
Q7Z3P2
resolver
uniprot
Q9H7W4
resolver
uniprot
Q9H9W3
resolver
uniprot
Q9HCJ9
resolver
uniprot_entry
A0A0A0MQY7_HUMAN
resolver
uniprot_entry
CAHD1_HUMAN
resolver
uniprot_sec
Q49AE9
resolver
uniprot_sec
Q658T4
resolver
uniprot_sec
Q7Z3P2
resolver
uniprot_sec
Q9H7W4
resolver
uniprot_sec
Q9H9W3
resolver
uniprot_sec
Q9HCJ9
resolver
amino_acid_sequence
MARQPEEEETAVARARRPPLWLLCLVACWLLGAGAEADFSILDEAQVLASQMRRLAAEELGVVTMQRIFNSFVYTEKISNGESEVQQLAKKIREKFNRYLDVVNRNKQVVEASYTAHLTSPLTAIQDCCTIPPSMMEFDGNFNTNVSRTISCDRLSTTVNSRAFNPGRDLNSVLADNLKSNPGIKWQYFSSEEGIFTVFPAHKFRCKGSYEHRSRPIYVSTVRPQSKHIVVILDHGASVTDTQLQIAKDAAQVILSAIDEHDKISVLTVADTVRTCSLDQCYKTFLSPATSETKRKMSTFVSSVKSSDSPTQHAVGFQKAFQLIRSTNNNTKFQANTDMVIIYLSAGITSKDSSEEDKKATLQVINEENSFLNNSVMILTYALMNDGVTGLKELAFLRDLAEQNSGKYGVPDRMALPVIKGSMMVLNQLSNLETTVGRFYTNLPNRMIDEAVFSLPFSDEMGDGLIMTVSKPCYFGNLLLGIVGVDVNLAYILEDVTYYQDSLASYTFLIDDKGYTLMHPSLTRPYLLSEPPLHTDIIHYENIPKFELVRQNILSLPLGSQIIAVPVNSSLSWHINKLRETGKEAYNVSYAWKMVQDTSFILCIVVIQPEIPVKQLKNLNTVPSSKLLYHRLDLLGQPSACLHFKQLATLESPTIMLSAGSFSSPYEHLSQPETKRMVEHYTAYLSDNTRLIANPGLKFSVRNEVMATSHVTDEWMTQMEMSSLNTYIVRRYIATPNGVLRIYPGSLMDKAFDPTRRQWYLHAVANPGLISLTGPYLDVGGAGYVVTISHTIHSSSTQLSSGHTVAVMGIDFTLRYFYKVLMDLLPVCNQDGGNKIRCFIMEDRGYLVAHPTLIDPKGHAPVEQQHITHKEPLVANDILNHPNFVKKNLCNSFSDRTVQRFYKFNTSLAGDLTNLVHGSHCSKYRLARIPGTNAFVGIVNETCDSLAFCACSMVDRLCLNCHRMEQNECECPCECPLEVNECTGNLTNAENRNPSCEVHQEPVTYTAIDPGLQDALHQCVNSRCSQRLESGDCFGVLDCEWCMVDSDGKTHLDKPYCAPQKECFGGIVGAKSPYVDDMGAIGDEVITLNMIKSAPVGPVAGGIMGCIMVLVLAVYAYRHQIHRRSHQHMSPLAAQEMSVRMSNLENDRDERDDDSHEDRGIISNTRFIAAVIERHAHSPERRRRYWGRSGTESDHGYSTMSPQEDSENPPCNNDPLSAGVDVGNHDEDLDLDTPPQTAALLSHKFHHYRSHHPTLHHSHHLQAAVTVHTVDAEC
uniprot
proteins
disease_involvement
DISEASE: Davis-Wells syndrome (DVWS) [MIM:621566]: An autosomal recessive syndrome characterized by mild cognitive impairment, dysmorphism featuring oculo-auriculo abnormalities, and developmental defects involving genitourinary and digestive tracts. {ECO:0000269|PubMed:38158856}. Note=The disease is caused by variants affecting the gene represented in this entry.
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 (PubMed:30181139). Is also involved in the regulation of Wnt signaling, acting within a ternary complex as scaffold component that bridges FZD5 and LRP6 (By similarity). Plays a role in the regulation of neural progenitor cells proliferation and differentiation (PubMed:38158856). {ECO:0000250|UniProtKB:Q6PDJ1, ECO:0000269|PubMed:30181139, ECO:0000269|PubMed:38158856}.
uniprot
proteins
mass_dalton
142290
uniprot
proteins
protein_family
Calcium channel subunit alpha-2/delta family
uniprot
proteins
pubmed
10997877
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
30181139
uniprot
proteins
pubmed
38158856
uniprot
proteins
sequence_length
1274
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:30181139}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 1096..1116; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins