CEP104

Also known as GlyBP, KIAA0562, CFAP256, JBTS25, ROC22, centrosomal protein 104

Centrosomal protein 104kDa is a protein that in humans is encoded by the CEP104 gene. Like its Chlamydomonas ortholog, FAP256, it has been shown to localize to the distal ends of both centrioles in the absence of a cilium. During cilium formation, it is found at the tip of the elongating cilium.

Gene data

CEP104

Name: centrosomal protein 104
Type: protein-coding
Aliases: CFAP256, GlyBP, JBTS25, KIAA0562, MRT77, ROC22

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].

via MyGene.info

Gene · Ensembl

centrosomal protein 104

Symbol: CEP104
Biotype: Protein coding
Organism: Homo sapiens
Location: 1:3,812,086-3,857,723
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 44919
exact match: identifiers.org/ncbigene/9731
genomic end: 3773778
genomic start: 3728645
cytogenetic location: 1p36.32

Sources (4)

via Wikidata · CC0

~1 min read

Article

3 sections

Contents

References
External links
Further reading

Centrosomal protein 104kDa is a protein that in humans is encoded by the CEP104 gene.

Like its Chlamydomonas ortholog, FAP256, it has been shown to localize to the distal ends of both centrioles in the absence of a cilium. During cilium formation, it is found at the tip of the elongating cilium.