CEP152
Centrosomal protein of 152 kDa
Also known as: CE152_HUMAN, KIAA0912, MCPH9, SCKL5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O94986
- Gene
- CEP152
- Ensembl
- ENSG00000103995
- Chromosome
- 15
- Canonical length
- 1710 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Centrosome,Basal body
OverviewNCBI Gene
This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Canonical amino-acid sequenceUniProt
1710 residues, UniProt reviewed canonical sequence.
>O94986|CEP152
1 MSLDFGSVAL PVQNEDEEYD EEDYEREKEL QQLLTDLPHD MLDDDLSSPE LQYSDCSEDG
61 TDGQPHHPEQ LEMSWNEQML PKSQSVNGYN EIQSLYAGEK CGNVWEENRS KTEDRHPVYH
121 PEEGGDEGGS GYSPPSKCEQ TDLYHLPENF RPYTNGQKQE FNNQATNVIK FSDPQWNHFQ
181 GPSCQGLEPY NKVTYKPYQS SAQNNGSPAQ EITGSDTFEG LQQQFLGANE NSAENMQIIQ
241 LQVLNKAKER QLENLIEKLN ESERQIRYLN HQLVIIKDEK DGLTLSLRES QKLFQNGKER
301 EIQLEAQIKA LETQIQALKV NEEQMIKKSR TTEMALESLK QQLVDLHHSE SLQRAREQHE
361 SIVMGLTKKY EEQVLSLQKN LDATVTALKE QEDICSRLKD HVKQLERNQE AIKLEKTEII
421 NKLTRSLEES QKQCAHLLQS GSVQEVAQLQ FQLQQAQKAH AMSANMNKAL QEELTELKDE
481 ISLYESAAKL GIHPSDSEGE LNIELTESYV DLGIKKVNWK KSKVTSIVQE EDPNEELSKD
541 EFILKLKAEV QRLLGSNSMK RHLVSQLQND LKDCHKKIED LHQVKKDEKS IEVETKTDTS
601 EKPKNQLWPE SSTSDVVRDD ILLLKNEIQV LQQQNQELKE TEGKLRNTNQ DLCNQMRQMV
661 QDFDHDKQEA VDRCERTYQQ HHEAMKTQIR ESLLAKHALE KQQLFEAYER THLQLRSELD
721 KLNKEVTAVQ ECYLEVCREK DNLELTLRKT TEKEQQTQEK IKEKLIQQLE KEWQSKLDQT
781 IKAMKKKTLD CGSQTDQVTT SDVISKKEMA IMIEEQKCTI QQNLEQEKDI AIKGAMKKLE
841 IELELKHCEN ITKQVEIAVQ NAHQRWLGEL PELAEYQALV KAEQKKWEEQ HEVSVNKRIS
901 FAVSEAKEKW KSELENMRKN ILPGKELEEK IHSLQKELEL KNEEVPVVIR AELAKARSEW
961 NKEKQEEIHR IQEQNEQDYR QFLDDHRNKI NEVLAAAKED FMKQKTELLL QKETELQTCL
1021 DQSRREWTMQ EAKRIQLEIY QYEEDILTVL GVLLSDTQKE HISDSEDKQL LEIMSTCSSK
1081 WMSVQYFEKL KGCIQKAFQD TLPLLVENAD PEWKKRNMAE LSKDSASQGT GQGDPGPAAG
1141 HHAQPLALQA TEAEADKKKV LEIKDLCCGH CFQELEKAKQ ECQDLKGKLE KCCRHLQHLE
1201 RKHKAVVEKI GEENNKVVEE LIEENNDMKN KLEELQTLCK TPPRSLSAGA IENACLPCSG
1261 GALEELRGQY IKAVKKIKCD MLRYIQESKE RAAEMVKAEV LRERQETARK MRKYYLICLQ
1321 QILQDDGKEG AEKKIMNAAS KLATMAKLLE TPISSKSQSK TTQSALPLTS EMLIAVKKSK
1381 RNDVNQKIPC CIESKSNSVN TITRTLCEQA PKRRAACNLQ RLLENSEHQS IKHVGSKETH
1441 LEFQFGDGSC KHLNSLPRNV SPEFVPCEGE GGFGLHKKKD LLSDNGSESL PHSAAYPFLG
1501 TLGNKPSPRC TPGPSESGCM HITFRDSNER LGLKVYKCNP LMESENAASE KSQGLDVQEP
1561 PVKDGGDLSD CLGWPSSSAT LSFDSREASF VHGRPQGTLE IPSESVKSKQ FSPSGYLSDT
1621 EESNMICQTM KCQRYQTPYL SEETTYLEPG KISVNCGHPS RHKADRLKSD FKKLSSTLPS
1681 SVCQQPSRKL IVPLSSQQDS GFDSPFVNLDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CEP152 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)
- 0.58
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 16 nTPM
- testis: 9.2 nTPM
- thymus: 5.2 nTPM
- placenta: 4.4 nTPM
- lymph node: 4 nTPM
- tonsil: 3.5 nTPM
Single-cell type
- early spermatids: 312 nCPM
- erythrocyte progenitors: 132 nCPM
- monocyte progenitors: 116 nCPM
- renal collecting duct intercalated cells: 105 nCPM
- late primary spermatocytes: 92 nCPM
- neutrophil progenitors: 74 nCPM
Immune cell
- basophil: 2.1 nTPM
- eosinophil: 1.9 nTPM
- neutrophil: 1.9 nTPM
- naive B-cell: 1.7 nTPM
- non-classical monocyte: 1.5 nTPM
- plasmacytoid DC: 1.5 nTPM
Brain region
- choroid plexus: 7.9 nTPM
- cerebellum: 6.4 nTPM
- thalamus: 6.3 nTPM
- cerebral cortex: 6.2 nTPM
- white matter: 5.9 nTPM
- pons: 5.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CEP152.
Disease | AllUniProt
Conditions CEP152 is implicated in, by any mechanism.
- Microcephaly 9, primary, autosomal recessive (MCPH9) MIM:614852
- Seckel syndrome 5 (SCKL5) MIM:613823
Disease | GeneticClinVar
143 pathogenic / likely-pathogenic of 1,256 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Microcephaly 9, primary, autosomal recessive
- Seckel syndrome 5
- CEP152-related disorder
- Inborn genetic diseases
- Seckel syndrome
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)
- 0.82
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.03
- DepMap mean gene effect
- -0.14
- 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
- cell projection organization
- centriole replication
- centrosome duplication
- de novo centriole assembly involved in multi-ciliated epithelial cell differentiation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Centrosomal Protein 152/SHC-Transforming Protein
- CEP152, CEP63 binding coiled coil
- CEP152, PLK4 binding region
- CEP152, PLK4 binding region
- CEP152, CEP63 binding coiled coil
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CEP152 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 CEP152 as an antibody target. Whether an autoantibody or antibody against CEP152 could matter depends on whether native CEP152 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CEP152 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 CEP152 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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