Seroatlas · Human Serome Atlas

CEP112

Centrosomal protein of 112 kDa

Also known as: CCDC46, CE112_HUMAN, MGC33887

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

Protein identityUniProt · HPA

UniProt accession: Q8N8E3
Gene: CEP112
Ensembl: ENSG00000154240
Chromosome: 17
Canonical length: 955 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Midbody ring,Centrosome,Cytosol

OverviewNCBI Gene

This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

955 residues, UniProt reviewed canonical sequence.

>Q8N8E3|CEP112
     1  MEVGSEEEKW EKLDAEFDHF VVDMKPFVLK LPHRTERQRC ALWIRKLCEP SGTGAGIMGR
    61  KNRNLYAKLL LHMLKRGALE GPFTHRPEPG TLKILPSYMS IYFDEPNPAR AKGSSPEGLP
   121  AWVLGELETS EHKLNESWKL SSGEDNTLVQ SPTDVYSREQ YTGKLRVRSH SLSPTHREDG
   181  QNITPKICEV YSKKSPVSLD DSDIEARLNS WNLGIENPRY LRQKPIPVSL MTPKFSLRKS
   241  SSFHDDHFLS RIREKELDMK TKMMEAKFHE EKLKLQQKHD ADVQKILERK NNEIEELKTL
   301  YRSKQHETEE TIRKLEKKVQ TLIRDCQVIR ETKEDQIAEL KKICEQSTES LNNDWEKKLH
   361  NAVAEMEQEK FDLQKQHTEN IQELLEDTNV RLNKMESEYM AQTQSTNHMI KELEARVQQL
   421  TGEAENSNLQ RQKLIQEKAE LERCYQITCS ELQEVKARRN TLHKEKDHLV NDYEQNMKLL
   481  QTKYDADINL LKQEHALSAS KASSMIEELE QNVCQLKQQL QESELQRKQQ LRDQENKFQM
   541  EKSHLKHIYE KKAHDLQSEL DKGKEDTQKK IHKFEEALKE KEEQLTRVTE VQRLQAQQAD
   601  AALEEFKRQV ELNSEKVYAE MKEQMEKVEA DLTRSKSLRE KQSKEFLWQL EDIRQRYEQQ
   661  IVELKLEHEQ EKTHLLQQHN AEKDSLVRDH EREIENLEKQ LRAANMEHEN QIQEFKKRDA
   721  QVIADMEAQV HKLREELINV NSQRKQQLVE LGLLREEEKQ RATREHEIVV NKLKAESEKM
   781  KIELKKTHAA ETEMTLEKAN SKLKQIEKEY TQKLAKSSQI IAELQTTISS LKEENSQQQL
   841  AAERRLQDVR QKFEDEKKQL IRDNDQAIKV LQDELENRSN QVRCAEKKLQ HKELESQEQI
   901  TYIRQEYETK LKGLMPASLR QELEDTISSL KSQVNFLQKR ASILQEELTT YQGRR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEP112 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): 0.5
Highest tissue expression: 44 nTPM

Expression across tissuesHPA

Tissue

testis: 44 nTPM
retina: 21 nTPM
tongue: 12 nTPM
adipose tissue: 11 nTPM
choroid plexus: 11 nTPM
breast: 9 nTPM

Single-cell type

late spermatids: 2,283 nCPM
early spermatids: 1,527 nCPM
rod photoreceptor cells: 1,138 nCPM
ependymal cells: 518 nCPM
lactotrophs: 505 nCPM
late primary spermatocytes: 473 nCPM

Immune cell

basophil: 1.3 nTPM
neutrophil: 1.3 nTPM
plasmacytoid DC: 0.9 nTPM
MAIT T-cell: 0.5 nTPM
memory CD4 T-cell: 0.5 nTPM
naive B-cell: 0.5 nTPM

Brain region

choroid plexus: 33 nTPM
cerebellum: 27 nTPM
hippocampal formation: 25 nTPM
thalamus: 23 nTPM
medulla oblongata: 23 nTPM
midbrain: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEP112.

Disease | AllUniProt

Conditions CEP112 is implicated in, by any mechanism.

Spermatogenic failure 44 (SPGF44) MIM:619044

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 136 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 44

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): 1.13
gnomAD pLI: 0
gnomAD missense Z: 0.02
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

receptor localization to synapse

Molecular functions

molecular condensate scaffold activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Domain of unknown function DUF4485
Centrosomal protein of 112 kDa
Domain of unknown function (DUF4485)

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CEP112 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 CEP112 as an antibody target. Whether an autoantibody or antibody against CEP112 could matter depends on whether native CEP112 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CEP112 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 CEP112 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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