CEP104

Protein identityUniProt · HPA

UniProt accession

O60308

Gene

CEP104

Ensembl

ENSG00000116198

Chromosome

1

Canonical length

925 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]

Canonical amino-acid sequenceUniProt

925 residues, UniProt reviewed canonical sequence.

>O60308|CEP104
     1  MPHKIGFVVV SSSGHEDGFS ARELMIHAPT VSGWRSPRFC QFPQEIVLQM VERCRIRKLQ
    61  LLAHQYMISS KIEFYISESL PEYFAPYQAE RFRRLGYVSL CDNEKTGCKA RELKSVYVDA
   121  VGQFLKLIFH QNHVNKYNIY NQVALVAINI IGDPADFSDE SNTASREKLI DHYLGHNSED
   181  PALEGTYARK SDYISPLDDL AFDMYQDPEV AQIIRKLDER KREAVQKERY DYAKKLKQAI
   241  ADLQKVGERL GRYEVEKRCA VEKEDYDLAK EKKQQMEQYR AEVYEQLELH SLLDAELMRR
   301  PFDLPLQPLA RSGSPCHQKP MPSLPQLEER GTENQFAEPF LQEKPSSYSL TISPQHSAVD
   361  PLLPATDPHP KINAESLPYD ERPLPAIRKH YGEAVVEPEM SNADISDARR GGMLGEPEPL
   421  TEKALREASS AIDVLGETLV AEAYCKTWSY REDALLALSK KLMEMPVGTP KEDLKNTLRA
   481  SVFLVRRAIK DIVTSVFQAS LKLLKMIITQ YIPKHKLSKL ETAHCVERTI PVLLTRTGDS
   541  SARLRVTAAN FIQEMALFKE VKSLQIIPSY LVQPLKANSS VHLAMSQMGL LARLLKDLGT
   601  GSSGFTIDNV MKFSVSALEH RVYEVRETAV RIILDMYRQH QASILEYLPP DDSNTRRNIL
   661  YKTIFEGFAK IDGRATDAEM RARRKAATEE AEKQKKEEIK ALQGQLAALK EIQAEVQEKE
   721  SDAVKPKNQD IQGGKAAPAE ALGIPDEHYL DNLCIFCGER SESFTEEGLD LHYWKHCLML
   781  TRCDHCKQVV EISSLTEHLL TECDKKDGFG KCYRCSEAVF KEELPRHIKH KDCNPAKPEK
   841  LANRCPLCHE NFSPGEEAWK AHLMGPAGCT MNLRKTHILQ KAPALQPGKS SAVAASGPLG
   901  SKAGSKIPTP KGGLSKSSSR TYAKR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEP104 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)

0.4

Highest tissue expression

13 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEP104.

Disease | AllUniProt

Conditions CEP104 is implicated in, by any mechanism.

• Joubert syndrome 25 (JBTS25) MIM:616781
• Intellectual developmental disorder, autosomal recessive 77 (MRT77) MIM:619988

Disease | GeneticClinVar

51 pathogenic / likely-pathogenic of 656 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Joubert syndrome 25
• Intellectual developmental disorder, autosomal recessive 77
• Joubert syndrome and related disorders
• CEP104-related disorder
• Cerebellar ataxia

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)

0.74

gnomAD pLI

0

gnomAD missense Z

0.44

DepMap mean gene effect

-0.06

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

Cellular components

• centriole
• centrosome
• cilium
• spindle pole

Protein domainsUniProt · Pfam · InterPro

• Galactose-binding-like domain superfamily
• Armadillo-like helical
• Armadillo-type fold
• TOG domain
• Centrosomal protein CEP104, TOG domain
• Centrosomal protein CEP104, Zn finger domain
• Centrosomal protein CEP104, N-terminal domain
• Centrosomal protein 104 kDa-like
• Centrosomal protein CEP104, N-terminal domain
• Centrosomal protein CEP104, ZnF

KeywordsUniProt

• Cell projection
• Ciliopathy
• Coiled coil
• Cytoplasm
• Cytoskeleton
• Intellectual disability
• Joubert syndrome
• Repeat

InteractionsUniProt · HPA

Protein binding partners of CEP104 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ARMC9
• CCDC66
• CCP110
• CEP97
• CSPP1
• TOGARAM1