CEFIP
Cardiac-enriched FHL2-interacting protein
Also known as: C10orf71, CEFIP_HUMAN, FLJ45913
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q711Q0
- Gene
- CEFIP
- Ensembl
- ENSG00000177354
- Chromosome
- 10
- Canonical length
- 1435 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Mitochondria
OverviewNCBI Gene
Predicted to be involved in positive regulation of calcineurin-NFAT signaling cascade. Predicted to act upstream of or within cardiac muscle cell contraction; cardiac muscle cell differentiation; and heart morphogenesis. Predicted to be located in cytoplasm. Predicted to be active in Z disc. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
1435 residues, UniProt reviewed canonical sequence.
>Q711Q0|CEFIP
1 MMQGNKKCTD AFSDSSSIGS VLDDADREVS SLTDRAFRSL CISEDTSFHD SYLAVSPDIT
61 RQVFGTFHQR TVGHTQRKSG IWSQLPSQGT EHSGWAATFQ QLPKYVQGEE KYPKTSPPPT
121 PVQRRLEVPV SGLRSSNKPV SKVSTLIKSF DRTESQRCES RPTASKPPAL KNPPKFAPLP
181 ENSVNFCFDS AFLTVRRVPA EVSNTHQNSY QPGRKHGEQE SSKNPEMACH GSSSFLPAAN
241 DTATLCESKF PSPHHKPVTG EPGRGKGTFL HSENSAFESW NAHQPKLLER KDTAGTVPES
301 KAPKHYGDTT LLREPCPPER TVSPCQVQAS CSQEENRLAA GALSTSIPWG CRDPGAQVFA
361 VEGKAPSSQP DSQEKPAQPP WRKPKTGKKG KESLQDTLEE KTQTNQRGPP LYTKHNPQEQ
421 FSENNALDLP VEPNEHYDPP FNISKLLTPI IPSKHALDSA DSQPAERTPS PPGQLNGYQE
481 KEPSECQSRD SYKSKAPSLL FNLKDVRKRV KSTYSSSPLL KVLDEKTRGK VDGKQEPVSN
541 GVILPNGLEE SPPNELSKER PADDPTASHI NPQKDPTADP SEPSADSYLT LSTAPTIAKA
601 PFYVNGEAAE RSSYENKEVE GELEMGPAGS SWCPDSREHR PRKHLSLRLC NRDPEPGGAT
661 EKMKTHQLEN GLSRSVSQET EPEREAGLQN THLNQKFFPG PLSPEEEDVF YSDSQSDFMP
721 SLKGKAKFST SSSDQSFASF DDQQKMWFTE NQREDRRKDV SAGDSQKDEK ENVMRKDELQ
781 YCALSNGHAC LENRSQGEAL QRERESVSGG RTRKASAEEA NFRGSWIGEN KGTTFSQAKD
841 LTPSPSSASN RHMLFTIKDN TLRATPVIKP IMLPLLRTMS LEDSLSSGHK EEELPRPEWG
901 EDPGFCAPEN QDILGTSTPT NTRGTRVKCM ANEVMEDPGQ GSSMARMEAS QPAPKGNFPS
961 MPLVGEGDRV KAPPDAAPGL VASNCKSGSA DSGKLAAPWH IPTIALPEGD IEDQPPPWQP
1021 ENCWEEQTPG FKSHFLSTPR AGPPGRRLVP SERANSPNPG SPGESSACSP AASNIWEESS
1081 QAPGGPELLP EEPNQASPWA SSSPARVTRR EDLTHALVWE GGSDPLLELS AEDLRTLSPR
1141 GSLLDVATSP AGTSGRLELP AQLERTASKP PAVPPKTEKA LRRAKKLASK RRKTDQAQEK
1201 HGESQEGKPC PEDLEQTQQR PLCPRERPRH NFPVVRSLPP PVHRHSVSGF SEPVGRRPGG
1261 PQSLTPLPAY PATQKVLQDP QSGEYFVFDL PLQVKIKTFY DPETGKYVKV SIPSSEGASP
1321 EPPPPDALAA PYVLYPGFQP VPVTALMPLR CSSQLSAPTF LRQGPRASAA RARTQSVHES
1381 GLQLDPGPHG DCTPHSAGQR PHGPPQSPGE EGVEAPGLGI ISTDDLEDFA TEGISLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CEFIP 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)
- 0.69
- Highest tissue expression
- 263 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 263 nTPM
- tongue: 77 nTPM
- heart muscle: 42 nTPM
- parathyroid gland: 21 nTPM
- esophagus: 1.4 nTPM
- pancreas: 1.2 nTPM
Single-cell type
- myonuclei: 461 nCPM
- thymic myoid cells: 59 nCPM
- cardiomyocytes: 42 nCPM
- pancreatic acinar cells: 4.8 nCPM
- epicardial cells: 4.5 nCPM
- renal collecting duct intercalated cells: 4.1 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
- pons: 0.5 nTPM
- amygdala: 0.2 nTPM
- cerebellum: 0.2 nTPM
- cerebral cortex: 0.2 nTPM
- hippocampal formation: 0.2 nTPM
- medulla oblongata: 0.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CEFIP.
Disease | AllUniProt
Conditions CEFIP is implicated in, by any mechanism.
- Cardiomyopathy, dilated, 1QQ (CMD1QQ) MIM:621251
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)
- 0.8
- gnomAD pLI
- 0
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cardiac muscle cell contraction
- cardiac muscle cell differentiation
- heart morphogenesis
- positive regulation of calcineurin-NFAT signaling cascade
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CEFIP 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 CEFIP as an antibody target. Whether an autoantibody or antibody against CEFIP could matter depends on whether native CEFIP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CEFIP 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 CEFIP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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