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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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