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CEP104 centrosomal protein 104 [ Homo sapiens (human) ]

Gene ID: 9731, updated on 1-Jun-2020

Summary

Official Symbol
CEP104provided by HGNC
Official Full Name
centrosomal protein 104provided by HGNC
Primary source
HGNC:HGNC:24866
See related
Ensembl:ENSG00000116198 MIM:616690
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GlyBP; ROC22; JBTS25; CFAP256; KIAA0562
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 6.6), kidney (RPKM 6.5) and 25 other tissues See more
Orthologs

Genomic context

See CEP104 in Genome Data Viewer
Location:
1p36.32
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (3812086..3857233, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (3728645..3773797, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 574, pseudogene Neighboring gene leucine rich repeat containing 47 Neighboring gene Sharpr-MPRA regulatory region 1968 Neighboring gene DNA fragmentation factor subunit beta Neighboring gene uncharacterized LOC107984910

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0562

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glutamate binding IEA
Inferred from Electronic Annotation
more info
 
glycine binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thienylcyclohexylpiperidine binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
spindle pole IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
centrosomal protein of 104 kDa
Names
centrosomal protein 104kDa

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046726.1 RefSeqGene

    Range
    5001..50153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014704.4NP_055519.1  centrosomal protein of 104 kDa

    See identical proteins and their annotated locations for NP_055519.1

    Status: REVIEWED

    Source sequence(s)
    AL365330, AL691523
    Consensus CDS
    CCDS30571.1
    UniProtKB/Swiss-Prot
    O60308
    Related
    ENSP00000367476.3, ENST00000378230.8
    Conserved Domains (1) summary
    sd00044
    Location:432460
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    3812086..3857233 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451101.1XP_024306869.1  centrosomal protein of 104 kDa isoform X1

    Conserved Domains (2) summary
    sd00044
    Location:474502
    HEAT; HEAT repeat [structural motif]
    cl25742
    Location:249342
    ERM; Ezrin/radixin/moesin family
  2. XM_017002918.2XP_016858407.1  centrosomal protein of 104 kDa isoform X7

  3. XM_011542474.3XP_011540776.1  centrosomal protein of 104 kDa isoform X3

    Conserved Domains (1) summary
    sd00044
    Location:438466
    HEAT; HEAT repeat [structural motif]
  4. XM_017002919.2XP_016858408.1  centrosomal protein of 104 kDa isoform X8

  5. XM_005244815.4XP_005244872.1  centrosomal protein of 104 kDa isoform X2

    Conserved Domains (1) summary
    sd00044
    Location:468496
    HEAT; HEAT repeat [structural motif]
  6. XM_024451103.1XP_024306871.1  centrosomal protein of 104 kDa isoform X5

    Conserved Domains (2) summary
    pfam01044
    Location:223475
    Vinculin; Vinculin family
    sd00044
    Location:410438
    HEAT; HEAT repeat [structural motif]
  7. XM_024451106.1XP_024306874.1  centrosomal protein of 104 kDa isoform X9

    Conserved Domains (2) summary
    sd00044
    Location:399427
    HEAT; HEAT repeat [structural motif]
    cl25742
    Location:249339
    ERM; Ezrin/radixin/moesin family
  8. XM_024451102.1XP_024306870.1  centrosomal protein of 104 kDa isoform X4

    Conserved Domains (2) summary
    pfam01044
    Location:229481
    Vinculin; Vinculin family
    sd00044
    Location:416444
    HEAT; HEAT repeat [structural motif]
  9. XM_024451104.1XP_024306872.1  centrosomal protein of 104 kDa isoform X6

    Conserved Domains (2) summary
    sd00044
    Location:457485
    HEAT; HEAT repeat [structural motif]
    cl25742
    Location:249342
    ERM; Ezrin/radixin/moesin family
  10. XM_024451108.1XP_024306876.1  centrosomal protein of 104 kDa isoform X10

    Conserved Domains (2) summary
    sd00044
    Location:474502
    HEAT; HEAT repeat [structural motif]
    cl25742
    Location:249342
    ERM; Ezrin/radixin/moesin family
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