Seroatlas · Human Serome Atlas

EFCAB6

EF-hand calcium-binding domain-containing protein 6

Also known as: dJ185D5.1, DJBP, EFCB6_HUMAN, FLJ23588, HSCBCIP1, KIAA1672

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

Protein identityUniProt · HPA

UniProt accession: Q5THR3
Gene: EFCAB6
Ensembl: ENSG00000186976
Chromosome: 22
Canonical length: 1501 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Canonical amino-acid sequenceUniProt

1501 residues, UniProt reviewed canonical sequence.

>Q5THR3|EFCAB6
     1  MCKMAIIPDW LRSHPHTRKF THSRPHSSPC RVYSRNGSPN KFRSSSTTAV ANPTLSSLDV
    61  KRILFQKITD RGDELQKAFQ LLDTGQNLTV SKSELRRIIT DFLMPLTREQ FQDVLAQIPL
   121  STSGTVPYLA FLSRFGGIDL YINGIKRGGG NEMNCCRTLR ELEIQVGEKV FKNIKTVMKA
   181  FELIDVNKTG LVRPQELRRV LETFCMKLRD EEYEKFSKHY NIHKDTAVDY NVFLKNLSIN
   241  NDLNLRYCMG NQEVSLENQQ AKNSKKERLL GSASSEDIWR NYSLDEIERN FCLQLSKSYE
   301  KVEKALSAGD PCKGGYVSFN YLKIVLDTFV YQIPRRIFIQ LMKRFGLKAT TKINWKQFLT
   361  SFHEPQGLQV SSKGPLTKRN SINSRNESHK ENIITKLFRH TEDHSASLKK ALLIINTKPD
   421  GPITREEFRY ILNCMAVKLS DSEFKELMQM LDPGDTGVVN TSMFIDLIEE NCRMRKTSPC
   481  TDAKTPFLLA WDSVEEIVHD TITRNLQAFY NMLRSYDLGD TGRIGRNNFK KIMHVFCPFL
   541  TNAHFIKLCS KIQDIGSGRI LYKKLLACIG IDGPPTVSPV LVPKDQLLSE HLQKDEQQQP
   601  DLSERTKLTE DKTTLTKKMT TEEVIEKFKK CIQQQDPAFK KRFLDFSKEP NGKINVHDFK
   661  KVLEDTGMPM DDDQYALLTT KIGFEKEGMS YLDFAAGFED PPMRGPETTP PQPPTPSKSY
   721  VNSHFITAEE CLKLFPRRLK ESFRDPYSAF FKTDADRDGI INMHDLHRLL LHLLLNLKDD
   781  EFERFLGLLG LRLSVTLNFR EFQNLCEKRP WRTDEAPQRL IRPKQKVADS ELACEQAHQY
   841  LVTKAKNRWS DLSKNFLETD NEGNGILRRR DIKNALYGFD IPLTPREFEK LWARYDTEGK
   901  GHITYQEFLQ KLGINYSPAV HRPCAEDYFN FMGHFTKPQQ LQEEMKELQQ STEKAVAARD
   961  KLMDRHQDIS KAFTKTDQSK TNYISICKMQ EVLEECGCSL TEGELTHLLN SWGVSRHDNA
  1021  INYLDFLRAV ENSKSTGAQP KEKEESMPIN FATLNPQEAV RKIQEVVESS QLALSTAFSA
  1081  LDKEDTGFVK ATEFGQVLKD FCYKLTDNQY HYFLRKLRIH LTPYINWKYF LQNFSCFLEE
  1141  TADEWAEKMP KGPPPTSPKA TADRDILARL HKAVTSHYHA ITQEFENFDT MKTNTISREE
  1201  FRAICNRRVQ ILTDEQFDRL WNEMPVNAKG RLKYPDFLSR FSSETAATPM ATGDSAVAQR
  1261  GSSVPDVSEG TRSALSLPTQ ELRPGSKSQS HPCTPASTTV IPGTPPLQNC DPIESRLRKR
  1321  IQGCWRQLLK ECKEKDVARQ GDINASDFLA LVEKFNLDIS KEECQQLIIK YDLKSNGKFA
  1381  YCDFIQSCVL LLKAKESSLM HRMKIQNAHK MKEAGAETPS FYSALLRIQP KIVHCWRPMR
  1441  RTFKSYDEAG TGLLSVADFR TVLRQYSINL SEEEFFHILE YYDKTLSSKI SYNDFLRAFL
  1501  Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EFCAB6 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): 0.38
Highest tissue expression: 23 nTPM

Expression across tissuesHPA

Tissue

testis: 23 nTPM
fallopian tube: 7.2 nTPM
choroid plexus: 3 nTPM
thyroid gland: 2.9 nTPM
retina: 2.8 nTPM
parathyroid gland: 2.2 nTPM

Single-cell type

late spermatids: 803 nCPM
ependymal cells: 733 nCPM
respiratory ciliated cells: 517 nCPM
early spermatids: 473 nCPM
choroid plexus epithelial cells: 306 nCPM
endometrial ciliated cells: 226 nCPM

Immune cell

intermediate monocyte: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

choroid plexus: 18 nTPM
midbrain: 11 nTPM
medulla oblongata: 8.7 nTPM
spinal cord: 6.6 nTPM
hypothalamus: 6.5 nTPM
pons: 5.7 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): 1.16
gnomAD pLI: 0
gnomAD missense Z: -0.26
DepMap mean gene effect: 0.01
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

Biological processes

flagellated sperm motility

Molecular functions

calcium ion binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

EF-hand domain
EF-hand domain pair
DJBP, EF-hand domain
EF-Hand 1, calcium-binding site
EF-hand domain
EF-hand domain pair
EF-hand domain pair
EF-hand calcium-binding domain-containing protein 6

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EFCAB6 as an antibody target. Whether an autoantibody or antibody against EFCAB6 could matter depends on whether native EFCAB6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EFCAB6 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 EFCAB6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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