• Gene id: 57685

Gene Summary

• Gene Symbol: CACHD1   Gene   UCSC   Ensembl
• Gene name: cache domain containing 1
• Alternate names: VWFA and cache domain-containing protein 1, cache domain-containing protein 1, von Willebrand factor type A and cache domain containing 1,
• Gene location: 1p31.3 (64470128: 64693057)     Exons: 28     NC_000001.11
• OMIM: 0

Protein Summary

• Protein general information: Q5VU97  
  • Name: VWFA and cache domain containing protein 1 (Cache domain containing protein 1)
  • Length: 1274  
  • Mass: 142290
• Sequence:

  MARQPEEEETAVARARRPPLWLLCLVACWLLGAGAEADFSILDEAQVLASQMRRLAAEELGVVTMQRIFNSFVYT
  EKISNGESEVQQLAKKIREKFNRYLDVVNRNKQVVEASYTAHLTSPLTAIQDCCTIPPSMMEFDGNFNTNVSRTI
  SCDRLSTTVNSRAFNPGRDLNSVLADNLKSNPGIKWQYFSSEEGIFTVFPAHKFRCKGSYEHRSRPIYVSTVRPQ
  SKHIVVILDHGASVTDTQLQIAKDAAQVILSAIDEHDKISVLTVADTVRTCSLDQCYKTFLSPATSETKRKMSTF
  VSSVKSSDSPTQHAVGFQKAFQLIRSTNNNTKFQANTDMVIIYLSAGITSKDSSEEDKKATLQVINEENSFLNNS
  VMILTYALMNDGVTGLKELAFLRDLAEQNSGKYGVPDRMALPVIKGSMMVLNQLSNLETTVGRFYTNLPNRMIDE
  AVFSLPFSDEMGDGLIMTVSKPCYFGNLLLGIVGVDVNLAYILEDVTYYQDSLASYTFLIDDKGYTLMHPSLTRP
  YLLSEPPLHTDIIHYENIPKFELVRQNILSLPLGSQIIAVPVNSSLSWHINKLRETGKEAYNVSYAWKMVQDTSF
  ILCIVVIQPEIPVKQLKNLNTVPSSKLLYHRLDLLGQPSACLHFKQLATLESPTIMLSAGSFSSPYEHLSQPETK
  RMVEHYTAYLSDNTRLIANPGLKFSVRNEVMATSHVTDEWMTQMEMSSLNTYIVRRYIATPNGVLRIYPGSLMDK
  AFDPTRRQWYLHAVANPGLISLTGPYLDVGGAGYVVTISHTIHSSSTQLSSGHTVAVMGIDFTLRYFYKVLMDLL
  PVCNQDGGNKIRCFIMEDRGYLVAHPTLIDPKGHAPVEQQHITHKEPLVANDILNHPNFVKKNLCNSFSDRTVQR
  FYKFNTSLAGDLTNLVHGSHCSKYRLARIPGTNAFVGIVNETCDSLAFCACSMVDRLCLNCHRMEQNECECPCEC
  PLEVNECTGNLTNAENRNPSCEVHQEPVTYTAIDPGLQDALHQCVNSRCSQRLESGDCFGVLDCEWCMVDSDGKT
  HLDKPYCAPQKECFGGIVGAKSPYVDDMGAIGDEVITLNMIKSAPVGPVAGGIMGCIMVLVLAVYAYRHQIHRRS
  HQHMSPLAAQEMSVRMSNLENDRDERDDDSHEDRGIISNTRFIAAVIERHAHSPERRRRYWGRSGTESDHGYSTM
  SPQEDSENPPCNNDPLSAGVDVGNHDEDLDLDTPPQTAALLSHKFHHYRSHHPTLHHSHHLQAAVTVHTVDAEC

• Structural information:
  • Protein Domains: (228..44-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219-)
    (453..53-)
    (/note="Cache-1)
    (772..85-)
    (/note="Cache-2")
  • Interpro: IPR029151  IPR013608  IPR002035  IPR036465  
  • Prosite: PS50234
  • STRING: ENSP00000290039
• Other Databases: GeneCards:  CACHD1  Malacards:  CACHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0005891	voltage-gated calcium channel complex	IBA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray