Seroatlas · Human Serome Atlas

EFHC1

EF-hand domain-containing protein 1

Also known as: EFHC1_HUMAN, EJM, EJM1, FLJ10466, POC9, RIB72

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

Protein identityUniProt · HPA

UniProt accession
Q5JVL4
Gene
EFHC1
Ensembl
ENSG00000096093
Chromosome
6
Canonical length
640 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Plasma membrane,Cytosol,Equatorial segment,Mid piece,Principal piece,End piece

OverviewNCBI Gene

This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

640 residues, UniProt reviewed canonical sequence.

>Q5JVL4|EFHC1
     1  MVSNPVHGLP FLPGTSFKDS TKTAFHRSQT LSYRNGYAIV RRPTVGIGGD RLQFNQLSQA
    61  ELDELASKAP VLTYGQPKQA PPADFIPAHV AFDKKVLKFD AYFQEDVPMS TEEQYRIRQV
   121  NIYYYLEDDS MSVIEPVVEN SGILQGKLIK RQRLAKNDRG DHYHWKDLNR GINITIYGKT
   181  FRVVDCDQFT QVFLESQGIE LNPPEKMALD PYTELRKQPL RKYVTPSDFD QLKQFLTFDK
   241  QVLRFYAIWD DTDSMYGECR TYIIHYYLMD DTVEIREVHE RNDGRDPFPL LMNRQRVPKV
   301  LVENAKNFPQ CVLEISDQEV LEWYTAKDFI VGKSLTILGR TFFIYDCDPF TRRYYKEKFG
   361  ITDLPRIDVS KREPPPVKQE LPPYNGFGLV EDSAQNCFAL IPKAPKKDVI KMLVNDNKVL
   421  RYLAVLESPI PEDKDRRFVF SYFLATDMIS IFEPPVRNSG IIGGKYLGRT KVVKPYSTVD
   481  NPVYYGPSDF FIGAVIEVFG HRFIILDTDE YVLKYMESNA AQYSPEALAS IQNHVRKREA
   541  PAPEAESKQT EKDPGVQELE ALIDTIQKQL KDHSCKDNIR EAFQIYDKEA SGYVDRDMFF
   601  KICESLNVPV DDSLVKELIR MCSHGEGKIN YYNFVRAFSN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EFHC1 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.39
Highest tissue expression
33 nTPM

Expression across tissuesHPA

Tissue

  • fallopian tube: 33 nTPM
  • choroid plexus: 25 nTPM
  • retina: 20 nTPM
  • testis: 16 nTPM
  • pituitary gland: 15 nTPM
  • thyroid gland: 9 nTPM

Single-cell type

  • respiratory ciliated cells: 664 nCPM
  • fallopian tube ciliated cells: 483 nCPM
  • epididymal efferent duct ciliated cells: 481 nCPM
  • ependymal cells: 457 nCPM
  • endometrial ciliated cells: 432 nCPM
  • choroid plexus epithelial cells: 352 nCPM

Immune cell

  • plasmacytoid DC: 6.2 nTPM
  • naive B-cell: 4 nTPM
  • memory B-cell: 3.9 nTPM
  • neutrophil: 2 nTPM
  • eosinophil: 1.5 nTPM
  • NK-cell: 1.5 nTPM

Brain region

  • choroid plexus: 57 nTPM
  • medulla oblongata: 24 nTPM
  • midbrain: 24 nTPM
  • basal ganglia: 19 nTPM
  • white matter: 19 nTPM
  • spinal cord: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EFHC1.

Disease | AllUniProt

Conditions EFHC1 is implicated in, by any mechanism.

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)
1.21
gnomAD pLI
0
gnomAD missense Z
0.14
DepMap mean gene effect
0.01
DepMap dependency class
selective

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

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EFHC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EFHC1 as an antibody target. Whether an autoantibody or antibody against EFHC1 could matter depends on whether native EFHC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EFHC1 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 EFHC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EFHC1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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