Seroatlas · Human Serome Atlas

CEP135

Centrosomal protein of 135 kDa

Also known as: CEP4, CP135_HUMAN, FLJ13621, KIAA0635

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

Protein identityUniProt · HPA

UniProt accession: Q66GS9
Gene: CEP135
Ensembl: ENSG00000174799
Chromosome: 4
Canonical length: 1140 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Acrosome,Mid piece,Principal piece,Annulus
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]

Canonical amino-acid sequenceUniProt

1140 residues, UniProt reviewed canonical sequence.

>Q66GS9|CEP135
     1  MTTAVERKYI NIRKRLDQLG YRQTLTVECL PLVEKLFSDL VHTTESLRQS KLSAVKAEKE
    61  SANFDFVLEP YKLENARLSR ENNELYLELM KLREHSDQHV KELKTSLKKC ARETADLKFL
   121  NNQYAHKLKL LEKESKAKNE RIQQLQEKNL HAVVQTPGGK KRSIAFRRQR MQIDEPVPPS
   181  EVSSYPVPQP DDPYIADLLQ VADNRIQELQ QEVHQLQEKL AMMESGVRDY SKQIELRERE
   241  IERLSVALDG GRSPDVLSLE SRNKTNEKLI AHLNIQVDFL QQANKDLEKR IRELMETKET
   301  VTSEVVNLSN KNEKLCQELT EIDQLAQQLE RHKEEVLETA DKELGEAKKE IKRKLSEMQD
   361  LEETMAKLQL ELNLCQKEKE RLSDELLVKS DLETVVHQLE QEKQRLSKKV ESFAVTERQL
   421  TLEVERMRLE HGIKRRDRSP SRLDTFLKGI EEERDYYKKE LERLQHIIQR RSCSTSYSAR
   481  EKSSIFRTPE KGDYNSEIHQ ITRERDELQR MLERFEKYME DIQSNVKLLT AERDKLSVLY
   541  NEAQEELSAL RKESTQTTAP HNIVSLMEKE KELALSDLRR IMAEKEALRE KLEHIEEVSL
   601  FGKSELEKTI EHLTCVNHQL ESEKYELKSK VLIMKETIES LENKLKVQAQ KFSHVAGDSS
   661  HQKTEVNSLR IVNEQLQRSV DDYQHRLSIK RGELESAQAQ IKILEEKIDE LNLKMTSQDE
   721  EAHVMKKTIG VIDKEKDFLQ ETVDEKTEKI ANLQENLANK EKAVAQMKIM ISECESSVNQ
   781  LKETLVNRDR EINSLRRQLD AAHKELDEVG RSREIAFKEN RRLQDDLATM ARENQEISLE
   841  LEAAVQEKEE MKSRVHKYIT EVSRWESLMA AKEKENQDLL DRFQMLHNRA EDWEVKAHQA
   901  EGESSSVRLE LLSIDTERRH LRERVELLEK EIQEHINAHH AYESQISSMA KAMSRLEEEL
   961  RHQEDEKATV LNDLSSLREL CIKLDSGKDI MTQQLNSKNL EFERVVVELE NVKSESDLLK
  1021  KQLSNERHTV KNLESLLATN RDKEFHSHLT SHEKDTEIQL LKEKLTLSES KLTSQSRENT
  1081  MLRAKVAQLQ TDYDALKRQI STERYERERA IQEMRRHGLA TPPLSSTLRS PSHSPEHRNV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEP135 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): 0.49
Highest tissue expression: 8 nTPM

Expression across tissuesHPA

Tissue

thymus: 8 nTPM
lymph node: 7.9 nTPM
bone marrow: 7.2 nTPM
endometrium: 6.5 nTPM
tonsil: 6.2 nTPM
appendix: 6 nTPM

Single-cell type

erythrocyte progenitors: 129 nCPM
late primary spermatocytes: 106 nCPM
early primary spermatocytes: 93 nCPM
proximal tubule cells: 85 nCPM
early spermatids: 80 nCPM
differentiating spermatogonia: 76 nCPM

Immune cell

basophil: 9.7 nTPM
plasmacytoid DC: 5.6 nTPM
naive B-cell: 5.5 nTPM
naive CD4 T-cell: 4.9 nTPM
NK-cell: 4.6 nTPM
neutrophil: 3.8 nTPM

Brain region

choroid plexus: 4.5 nTPM
thalamus: 4.5 nTPM
cerebellum: 4.2 nTPM
medulla oblongata: 4.1 nTPM
pons: 3.9 nTPM
white matter: 3.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEP135.

Disease | AllUniProt

Conditions CEP135 is implicated in, by any mechanism.

Microcephaly 8, primary, autosomal recessive (MCPH8) MIM:614673

Disease | GeneticClinVar

58 pathogenic / likely-pathogenic of 612 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Microcephaly 8, primary, autosomal recessive
CEP135-related disorder
Inborn genetic diseases
Sarcoma

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): 0.81
gnomAD pLI: 0
gnomAD missense Z: 0.08
DepMap mean gene effect: -0.26
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Centriole and Basal Body Structural Protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CEP135 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 CEP135 as an antibody target. Whether an autoantibody or antibody against CEP135 could matter depends on whether native CEP135 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CEP135 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 CEP135 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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