Seroatlas · Human Serome Atlas

EFCC1

EF-hand and coiled-coil domain-containing protein 1

Also known as: C3orf73, CCDC48, EFCC1_HUMAN, FLJ12057

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

Protein identityUniProt · HPA

UniProt accession: Q9HA90
Gene: EFCC1
Ensembl: ENSG00000114654
Chromosome: 3
Canonical length: 598 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

598 residues, UniProt reviewed canonical sequence.

>Q9HA90|EFCC1
     1  MEPVSTGAEA GMEGAGGDPY RRPARRTQWL LSALAHHYGL DRGVENEIVV LATGLDQYLQ
    61  EVFHHLDCRG AGRLPRADFR ALCAVLGLRA EGATTAGQAA GDGNSRDVTP GDAAAELATD
   121  GDSDTDEEAR LALRAEPPEL TFRQFHARLC GYFGTRAGPR LPRGALSEHI ETQIRLRRPR
   181  RRRRPPCAPG PDSGPDCERV ARLEEENSSL RELVEDLRAA LQSSDARCLA LQVGLWKSQA
   241  STHEMGHGGP EAAVRELRQA QGALAAAEAR AGRLRRGQAE VRRRAEEARQ VVLRSLHRVR
   301  ELEALAQQVP GLQRWVRRLE AELQRYRSED SQLPTPQLAN PEPGDKSNEP EDAGTRDPDP
   361  TPEGAWQSDS SSGSRALDEV DEQLFRSVEG QAASDEEEVE EERWQEEKKT PAAEAKTLLA
   421  RLSSCRGRCD DQTAEKLMTY FGHFGGANHA HTLGELEACI AMLVEQLRTQ GCGGRTLGTS
   481  EEEAELQQKV EENEHLRLEL QMVETERVRL SLLEEKLVDV LQLLQRLRDL NISKRALGKI
   541  LLSTLDAFRD PTHEGRPSPA AILDALHQAL AACQLLRRQP SAPASAAAAL TNPLLVSC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EFCC1 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: 0
Mean surface accessibility (rSASA): 0.51
Highest tissue expression: 3.8 nTPM

Expression across tissuesHPA

Tissue

lung: 3.8 nTPM
ovary: 3.6 nTPM
spleen: 2.9 nTPM
duodenum: 2.1 nTPM
small intestine: 1.8 nTPM
stomach: 1.7 nTPM

Single-cell type

late spermatids: 199 nCPM
lymphatic endothelial cells: 60 nCPM
early spermatids: 51 nCPM
hematopoietic stem cells: 50 nCPM
ependymal cells: 19 nCPM
vascular endothelial cells: 17 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

hippocampal formation: 5.6 nTPM
pons: 4.8 nTPM
cerebellum: 4.5 nTPM
hypothalamus: 3.9 nTPM
medulla oblongata: 3.3 nTPM
cerebral cortex: 3.1 nTPM

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): 1.18
gnomAD pLI: 0
gnomAD missense Z: 0.72
DepMap mean gene effect: -0.08
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

Molecular functions

calcium ion binding

Protein domainsUniProt · Pfam · InterPro

EF-hand domain
Coiled-coil domain-containing protein 48
Coiled-coil domain-containing protein 48

KeywordsUniProt

Coiled coil

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EFCC1 as an antibody target. Whether an autoantibody or antibody against EFCC1 could matter depends on whether native EFCC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EFCC1 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 EFCC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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