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CEP104 centrosomal protein 104 [ Homo sapiens (human) ]

Gene ID: 9731, updated on 3-Apr-2024

Summary

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Official Symbol
CEP104provided by HGNC
Official Full Name
centrosomal protein 104provided by HGNC
Primary source
HGNC:HGNC:24866
See related
Ensembl:ENSG00000116198 MIM:616690; AllianceGenome:HGNC:24866
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; MRT77; 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
mouse all
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Genomic context

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Location:
1p36.32
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (3812086..3857211, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (3323682..3368809, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (3728650..3773775, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3689661-3690176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3690177-3690692 Neighboring gene MPRA functional variant 1:3691528:A:G red blood cell enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:3691725-3692240 Neighboring gene small integral membrane protein 1 (Vel blood group) Neighboring gene RNA, 7SL, cytoplasmic 574, pseudogene Neighboring gene leucine rich repeat containing 47 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:3709930-3710608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 125 Neighboring gene Sharpr-MPRA regulatory region 1968 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3745882-3747081 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:3747165-3748364 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:3755401-3755900 Neighboring gene uncharacterized LOC124903829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3767162-3767662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 67 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 127 Neighboring gene Sharpr-MPRA regulatory region 4254 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:3787529-3787731 Neighboring gene DNA fragmentation factor subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 128 Neighboring gene chromosome 1 open reading frame 174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:3815928-3816498 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:3816499-3817067

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling. Yamazoe T, et al. J Biol Chem, 2020 Oct 23. PMID 32820051, Free PMC Article
  2. Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome. Luo M, et al. Mol Genet Genomic Med, 2019 Dec. PMID 31625690, Free PMC Article
  3. Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network. Rezabkova L, et al. J Biol Chem, 2016 Aug 26. PMID 27402853, Free PMC Article
  4. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Srour M, et al. Am J Hum Genet, 2015 Nov 5. PMID 26477546, Free PMC Article
  5. CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families. Khoshbakht S, et al. Arch Iran Med, 2021 May 1. PMID 34196201

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
    Title: CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
  2. Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling.
    Title: Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling.
  3. Study identified two novel heterozygous mutations of CEP104 in a patient with Joubert syndrome, which were c.2364+1G>A and c.414delC (p.Asn138Lysfs*11) and consistent with the autosomal recessive inheritance mode.
    Title: Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
  4. Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network.
    Title: Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network.
  5. Mutations in CEP104 is associated with Joubert Syndrome.
    Title: Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual developmental disorder, autosomal recessive 77
MedGen: C5774193 OMIM: 619988 GeneReviews: Not available
Compare labs
Joubert syndrome 25
MedGen: C4084842 OMIM: 616781 GeneReviews: Joubert Syndrome
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0562

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_046726.2 RefSeqGene

    Range
    5000..50125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014704.4 → NP_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
    A0A024R4G3, O60308, Q5JSQ3, Q5SR24, Q5SR25, Q6PKF5, Q86W32, Q86X14
    UniProtKB/TrEMBL
    A0A6Q8PHR0
    Related
    ENSP00000367476.3, ENST00000378230.8
    Conserved Domains (1) summary
    sd00044
    Location:432 → 460
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    3812086..3857211 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435158.1 → XP_047291114.1  centrosomal protein of 104 kDa isoform X4

  2. XM_047435161.1 → XP_047291117.1  centrosomal protein of 104 kDa isoform X6

    Related
    ENSP00000501944.1, ENST00000675677.1

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

    UniProtKB/TrEMBL
    A0A6Q8PHR0
    Conserved Domains (1) summary
    sd00044
    Location:468 → 496
    HEAT; HEAT repeat [structural motif]

  4. XM_024451106.2 → XP_024306874.1  centrosomal protein of 104 kDa isoform X7

    UniProtKB/TrEMBL
    A0A6Q8PFR4
    Conserved Domains (2) summary
    sd00044
    Location:399 → 427
    HEAT; HEAT repeat [structural motif]
    cl25742
    Location:249 → 339
    ERM; Ezrin/radixin/moesin family

  5. XM_024451102.2 → XP_024306870.1  centrosomal protein of 104 kDa isoform X3

    UniProtKB/TrEMBL
    A0A6Q8PGB3
    Conserved Domains (2) summary
    pfam01044
    Location:229 → 481
    Vinculin; Vinculin family
    sd00044
    Location:416 → 444
    HEAT; HEAT repeat [structural motif]

  6. XM_024451104.2 → XP_024306872.1  centrosomal protein of 104 kDa isoform X5

    UniProtKB/TrEMBL
    A0A6Q8PFR4
    Conserved Domains (2) summary
    sd00044
    Location:457 → 485
    HEAT; HEAT repeat [structural motif]
    cl25742
    Location:249 → 342
    ERM; Ezrin/radixin/moesin family

  7. XM_024451101.2 → XP_024306869.1  centrosomal protein of 104 kDa isoform X1

    UniProtKB/TrEMBL
    A0A6Q8PHR0
    Conserved Domains (2) summary
    sd00044
    Location:474 → 502
    HEAT; HEAT repeat [structural motif]
    cl25742
    Location:249 → 342
    ERM; Ezrin/radixin/moesin family

  8. XM_024451108.2 → XP_024306876.1  centrosomal protein of 104 kDa isoform X8

    UniProtKB/TrEMBL
    A0A6Q8PGF0
    Related
    ENSP00000502246.1, ENST00000676009.1
    Conserved Domains (2) summary
    sd00044
    Location:474 → 502
    HEAT; HEAT repeat [structural motif]
    cl25742
    Location:249 → 342
    ERM; Ezrin/radixin/moesin family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    3323682..3368809 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339773.1 → XP_054195748.1  centrosomal protein of 104 kDa isoform X4

  2. XM_054339775.1 → XP_054195750.1  centrosomal protein of 104 kDa isoform X6

  3. XM_054339771.1 → XP_054195746.1  centrosomal protein of 104 kDa isoform X2

  4. XM_054339776.1 → XP_054195751.1  centrosomal protein of 104 kDa isoform X7

  5. XM_054339772.1 → XP_054195747.1  centrosomal protein of 104 kDa isoform X3

  6. XM_054339774.1 → XP_054195749.1  centrosomal protein of 104 kDa isoform X5

  7. XM_054339770.1 → XP_054195745.1  centrosomal protein of 104 kDa isoform X1

  8. XM_054339777.1 → XP_054195752.1  centrosomal protein of 104 kDa isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60308.1 GenPept UniProtKB/Swiss-Prot:O60308

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