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Gene Gene information from NCBI Gene database.
Entrez ID 57685
Gene name Cache domain containing 1
Gene symbol CACHD1
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p31.3
miRNA miRNA information provided by mirtarbase database.
63 Show/Hide all (63)
miRTarBase ID miRNA Experiments Reference
MIRT051781 hsa-let-7c-5p CLASH 23622248
MIRT045356 hsa-miR-185-5p CLASH 23622248
MIRT043233 hsa-miR-324-5p CLASH 23622248
MIRT040828 hsa-miR-18a-3p CLASH 23622248
MIRT659936 hsa-miR-4778-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6 Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IBA
GO:0005891 Component Voltage-gated calcium channel complex IBA
GO:0006811 Process Monoatomic ion transport IEA
GO:0006816 Process Calcium ion transport IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620144 29314 ENSG00000158966
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VU97
Protein name VWFA and cache domain-containing protein 1 (Cache domain-containing protein 1)
Protein function May regulate voltage-dependent calcium channels.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00092 VWA 228 → 413 von Willebrand factor type A domain Domain
PF08399 VWA_N 89 → 204 VWA N-terminal Family
Sequence
MARQPEEEETAVARARRPPLWLLCLVACWLLGAGAEADFSILDEAQVLASQMRRLAAEEL
GVVTMQRIFNSFVYTEKISNGESEVQQLAKKIREKFNRYLDVVNRNKQVVEASYTAHLTS
PLTAIQDCCTIPPSMMEFDGNFNTNVSRTISCDRLSTTVNSRAFNPGRDLNSVLADNLKS
NPGIKWQYFSSEEGIFTVFPAHKF
RCKGSYEHRSRPIYVSTVRPQSKHIVVILDHGASVT
DTQLQIAKDAAQVILSAIDEHDKISVLTVADTVRTCSLDQCYKTFLSPATSETKRKMSTF
VSSVKSSDSPTQHAVGFQKAFQLIRSTNNNTKFQANTDMVIIYLSAGITSKDSSEEDKKA
TLQVINEENSFLNNSVMILTYALMNDGVTGLKELAFLRDLAEQNSGKYGVPDR
MALPVIK
GSMMVLNQLSNLETTVGRFYTNLPNRMIDEAVFSLPFSDEMGDGLIMTVSKPCYFGNLLL
GIVGVDVNLAYILEDVTYYQDSLASYTFLIDDKGYTLMHPSLTRPYLLSEPPLHTDIIHY
ENIPKFELVRQNILSLPLGSQIIAVPVNSSLSWHINKLRETGKEAYNVSYAWKMVQDTSF
ILCIVVIQPEIPVKQLKNLNTVPSSKLLYHRLDLLGQPSACLHFKQLATLESPTIMLSAG
SFSSPYEHLSQPETKRMVEHYTAYLSDNTRLIANPGLKFSVRNEVMATSHVTDEWMTQME
MSSLNTYIVRRYIATPNGVLRIYPGSLMDKAFDPTRRQWYLHAVANPGLISLTGPYLDVG
GAGYVVTISHTIHSSSTQLSSGHTVAVMGIDFTLRYFYKVLMDLLPVCNQDGGNKIRCFI
MEDRGYLVAHPTLIDPKGHAPVEQQHITHKEPLVANDILNHPNFVKKNLCNSFSDRTVQR
FYKFNTSLAGDLTNLVHGSHCSKYRLARIPGTNAFVGIVNETCDSLAFCACSMVDRLCLN
CHRMEQNECECPCECPLEVNECTGNLTNAENRNPSCEVHQEPVTYTAIDPGLQDALHQCV
NSRCSQRLESGDCFGVLDCEWCMVDSDGKTHLDKPYCAPQKECFGGIVGAKSPYVDDMGA
IGDEVITLNMIKSAPVGPVAGGIMGCIMVLVLAVYAYRHQIHRRSHQHMSPLAAQEMSVR
MSNLENDRDERDDDSHEDRGIISNTRFIAAVIERHAHSPERRRRYWGRSGTESDHGYSTM
SPQEDSENPPCNNDPLSAGVDVGNHDEDLDLDTPPQTAALLSHKFHHYRSHHPTLHHSHH
LQAAVTVHTVDAEC
Sequence length 1274
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Familial prostate cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder GWASCAT_DG 29942085
★★★★★
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 30181139
★★★★★
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASDB_DG 21926974
★★★★★
★☆☆☆☆
Found in Text Mining only