Seroatlas · Human Serome Atlas

CACHD1

VWFA and cache domain-containing protein 1

Also known as: CAHD1_HUMAN, KIAA1573, VWCD1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5VU97
Gene: CACHD1
Ensembl: ENSG00000158966
Chromosome: 1
Canonical length: 1274 aa
Protein class: Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm,Nucleoli

OverviewNCBI Gene

Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1274 residues, UniProt reviewed canonical sequence.

>Q5VU97|CACHD1
     1  MARQPEEEET AVARARRPPL WLLCLVACWL LGAGAEADFS ILDEAQVLAS QMRRLAAEEL
    61  GVVTMQRIFN SFVYTEKISN GESEVQQLAK KIREKFNRYL DVVNRNKQVV EASYTAHLTS
   121  PLTAIQDCCT IPPSMMEFDG NFNTNVSRTI SCDRLSTTVN SRAFNPGRDL NSVLADNLKS
   181  NPGIKWQYFS SEEGIFTVFP AHKFRCKGSY EHRSRPIYVS TVRPQSKHIV VILDHGASVT
   241  DTQLQIAKDA AQVILSAIDE HDKISVLTVA DTVRTCSLDQ CYKTFLSPAT SETKRKMSTF
   301  VSSVKSSDSP TQHAVGFQKA FQLIRSTNNN TKFQANTDMV IIYLSAGITS KDSSEEDKKA
   361  TLQVINEENS FLNNSVMILT YALMNDGVTG LKELAFLRDL AEQNSGKYGV PDRMALPVIK
   421  GSMMVLNQLS NLETTVGRFY TNLPNRMIDE AVFSLPFSDE MGDGLIMTVS KPCYFGNLLL
   481  GIVGVDVNLA YILEDVTYYQ DSLASYTFLI DDKGYTLMHP SLTRPYLLSE PPLHTDIIHY
   541  ENIPKFELVR QNILSLPLGS QIIAVPVNSS LSWHINKLRE TGKEAYNVSY AWKMVQDTSF
   601  ILCIVVIQPE IPVKQLKNLN TVPSSKLLYH RLDLLGQPSA CLHFKQLATL ESPTIMLSAG
   661  SFSSPYEHLS QPETKRMVEH YTAYLSDNTR LIANPGLKFS VRNEVMATSH VTDEWMTQME
   721  MSSLNTYIVR RYIATPNGVL RIYPGSLMDK AFDPTRRQWY LHAVANPGLI SLTGPYLDVG
   781  GAGYVVTISH TIHSSSTQLS SGHTVAVMGI DFTLRYFYKV LMDLLPVCNQ DGGNKIRCFI
   841  MEDRGYLVAH PTLIDPKGHA PVEQQHITHK EPLVANDILN HPNFVKKNLC NSFSDRTVQR
   901  FYKFNTSLAG DLTNLVHGSH CSKYRLARIP GTNAFVGIVN ETCDSLAFCA CSMVDRLCLN
   961  CHRMEQNECE CPCECPLEVN ECTGNLTNAE NRNPSCEVHQ EPVTYTAIDP GLQDALHQCV
  1021  NSRCSQRLES GDCFGVLDCE WCMVDSDGKT HLDKPYCAPQ KECFGGIVGA KSPYVDDMGA
  1081  IGDEVITLNM IKSAPVGPVA GGIMGCIMVL VLAVYAYRHQ IHRRSHQHMS PLAAQEMSVR
  1141  MSNLENDRDE RDDDSHEDRG IISNTRFIAA VIERHAHSPE RRRRYWGRSG TESDHGYSTM
  1201  SPQEDSENPP CNNDPLSAGV DVGNHDEDLD LDTPPQTAAL LSHKFHHYRS HHPTLHHSHH
  1261  LQAAVTVHTV DAEC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CACHD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Unknown
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 25 nTPM

Expression across tissuesHPA

Tissue

ovary: 25 nTPM
basal ganglia: 15 nTPM
choroid plexus: 14 nTPM
fallopian tube: 14 nTPM
adrenal gland: 12 nTPM
amygdala: 12 nTPM

Single-cell type

choroid plexus epithelial cells: 603 nCPM
bergmann glia: 602 nCPM
astrocytes: 546 nCPM
adrenal cortex cells: 437 nCPM
pituicytes/fscs: 417 nCPM
ependymal cells: 396 nCPM

Immune cell

naive CD4 T-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

choroid plexus: 55 nTPM
thalamus: 47 nTPM
midbrain: 45 nTPM
basal ganglia: 45 nTPM
amygdala: 43 nTPM
hippocampal formation: 38 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CACHD1.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 193 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

DAVIS-WELLS SYNDROME

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.57
gnomAD pLI: 0
gnomAD missense Z: 1.71
DepMap mean gene effect: 0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

voltage-gated calcium channel activity

Cellular components

voltage-gated calcium channel complex

Protein domainsUniProt · Pfam · InterPro

von Willebrand factor, type A
von Willebrand factor A-like domain superfamily
Voltage-dependent calcium channel subunit alpha-2/delta
Periplasmic sensor-like domain superfamily

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CACHD1 as an antibody target. Whether an autoantibody or antibody against CACHD1 could matter depends on whether native CACHD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CACHD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CACHD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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