Seroatlas · Human Serome Atlas

CEP120

Centrosomal protein of 120 kDa

Also known as: CCDC100, CE120_HUMAN, FLJ36090

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

Protein identityUniProt · HPA

UniProt accession: Q8N960
Gene: CEP120
Ensembl: ENSG00000168944
Chromosome: 5
Canonical length: 986 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Microtubules,Mitotic spindle,Cytosol,Perinuclear theca,Flagellar centriole,Mid piece,Annulus

OverviewNCBI Gene

This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

986 residues, UniProt reviewed canonical sequence.

>Q8N960|CEP120
     1  MVSKSDQLLI VVSILEGRHF PKRPKHMLVV EAKFDGEQLA TDPVDHTDQP EFATELAWEI
    61  DRKALHQHRL QRTPIKLQCF ALDPVTSAKE TIGYIVLDLR TAQETKQAPK WYQLLSNKYT
   121  KFKSEIQISI ALETDTKPPV DSFKAKGAPP RDGKVPAILA GLDPRDIVAV LNEEGGYHQI
   181  GPAEYCTDSF IMSVTIAFAT QLEQLIPCTM KLPERQPEFF FYYSLLGNDV TNEPFNDLIN
   241  PNFEPERASV RIRSSVEILR VYLALQSKLQ IHLCCGDQSL GSTEIPLTGL LKKGSTEINQ
   301  HPVTVEGAFT LDPPNRAKQK LAPIPVELAP TVGVSVALQR EGIDSQSLIE LKTQNEHEPE
   361  HSKKKVLTPI KEKTLTGPKS PTVSPVPSHN QSPPTKDDAT ESEVESLQYD KDTKPNPKAS
   421  SSVPASLAQL VTTSNASEVA SGQKIAVPAT SHHFCFSIDL RSIHALEIGF PINCILRYSY
   481  PFFGSAAPIM TNPPVEVRKN MEVFLPQSYC AFDFATMPHQ LQDTFLRIPL LVELWHKDKM
   541  SKDLLLGIAR IQLSNILSSE KTRFLGSNGE QCWRQTYSES VPVIAAQGSN NRIADLSYTV
   601  TLEDYGLVKM REIFISDSSQ GVSAVQQKPS SLPPAPCPSE IQTEPRETLE YKAALELEMW
   661  KEMQEDIFEN QLKQKELAHM QALAEEWKKR DRERESLVKK KVAEYTILEG KLQKTLIDLE
   721  KREQQLASVE SELQREKKEL QSERQRNLQE LQDSIRRAKE DCIHQVELER LKIKQLEEDK
   781  HRLQQQLNDA ENKYKILEKE FQQFKDQQNN KPEIRLQSEI NLLTLEKVEL ERKLESATKS
   841  KLHYKQQWGR ALKELARLKQ REQESQMARL KKQQEELEQM RLRYLAAEEK DTVKTERQEL
   901  LDIRNELNRL RQQEQKQYQD STEIASGKKD GPHGSVLEEG LDDYLTRLIE ERDTLMRTGV
   961  YNHEDRIISE LDRQIREILA KSNASN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEP120 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): 0.44
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

thymus: 13 nTPM
testis: 13 nTPM
ovary: 13 nTPM
retina: 11 nTPM
tonsil: 10 nTPM
fallopian tube: 8.8 nTPM

Single-cell type

cone photoreceptor cells: 139 nCPM
b-cells: 74 nCPM
t-cells: 72 nCPM
respiratory deuterosomal cells: 72 nCPM
rod photoreceptor cells: 52 nCPM
lactotrophs: 51 nCPM

Immune cell

T-reg: 1.7 nTPM
memory CD4 T-cell: 1 nTPM
naive CD8 T-cell: 1 nTPM
basophil: 0.8 nTPM
memory B-cell: 0.7 nTPM
memory CD8 T-cell: 0.7 nTPM

Brain region

white matter: 2.3 nTPM
hypothalamus: 2.1 nTPM
midbrain: 2.1 nTPM
choroid plexus: 2 nTPM
hippocampal formation: 1.9 nTPM
medulla oblongata: 1.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEP120.

Disease | AllUniProt

Conditions CEP120 is implicated in, by any mechanism.

Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) MIM:616300
Joubert syndrome 31 (JBTS31) MIM:617761

Disease | GeneticClinVar

41 pathogenic / likely-pathogenic of 667 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Short-rib thoracic dysplasia 13 with or without polydactyly
Joubert syndrome 31
CEP120-related disorder
Chuvash polycythemia

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
gnomAD missense Z: -0.23
DepMap mean gene effect: -0.08
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

C2 domain
C2 domain superfamily
C2 domain
Domain of unknown function DUF3668
Centrosomal protein of 120kDa-like
Cep120 protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CEP120 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CCDC52
TACC2
TACC3
TALPID3
SPICE1
ANK2
CEP162

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CEP120 as an antibody target. Whether an autoantibody or antibody against CEP120 could matter depends on whether native CEP120 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CEP120 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 CEP120 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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