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    CEP104 centrosomal protein 104 [ Homo sapiens (human) ]

    Gene ID: 9731, updated on 23-Nov-2023

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CEP104 in Genome Data Viewer
    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

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_014704.4NP_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
      A0A024R4G3, O60308, Q5JSQ3, Q5SR24, Q5SR25, Q6PKF5, Q86W32, Q86X14
      UniProtKB/TrEMBL
      A0A6Q8PHR0
      Related
      ENSP00000367476.3, ENST00000378230.8
      Conserved Domains (1) summary
      sd00044
      Location:432460
      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_047435158.1XP_047291114.1  centrosomal protein of 104 kDa isoform X4

      UniProtKB/TrEMBL
      A0A6Q8PGB3
    2. XM_047435161.1XP_047291117.1  centrosomal protein of 104 kDa isoform X6

      UniProtKB/TrEMBL
      A0A6Q8PFR4
      Related
      ENSP00000501944.1, ENST00000675677.1
    3. XM_005244815.5XP_005244872.1  centrosomal protein of 104 kDa isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PHR0
      Conserved Domains (1) summary
      sd00044
      Location:468496
      HEAT; HEAT repeat [structural motif]
    4. XM_024451106.2XP_024306874.1  centrosomal protein of 104 kDa isoform X7

      UniProtKB/TrEMBL
      A0A6Q8PFR4
      Conserved Domains (2) summary
      sd00044
      Location:399427
      HEAT; HEAT repeat [structural motif]
      cl25742
      Location:249339
      ERM; Ezrin/radixin/moesin family
    5. XM_024451102.2XP_024306870.1  centrosomal protein of 104 kDa isoform X3

      UniProtKB/TrEMBL
      A0A6Q8PGB3
      Conserved Domains (2) summary
      pfam01044
      Location:229481
      Vinculin; Vinculin family
      sd00044
      Location:416444
      HEAT; HEAT repeat [structural motif]
    6. XM_024451104.2XP_024306872.1  centrosomal protein of 104 kDa isoform X5

      UniProtKB/TrEMBL
      A0A6Q8PFR4
      Conserved Domains (2) summary
      sd00044
      Location:457485
      HEAT; HEAT repeat [structural motif]
      cl25742
      Location:249342
      ERM; Ezrin/radixin/moesin family
    7. XM_024451101.2XP_024306869.1  centrosomal protein of 104 kDa isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PHR0
      Conserved Domains (2) summary
      sd00044
      Location:474502
      HEAT; HEAT repeat [structural motif]
      cl25742
      Location:249342
      ERM; Ezrin/radixin/moesin family
    8. XM_024451108.2XP_024306876.1  centrosomal protein of 104 kDa isoform X8

      UniProtKB/TrEMBL
      A0A6Q8PGF0
      Related
      ENSP00000502246.1, ENST00000676009.1
      Conserved Domains (2) summary
      sd00044
      Location:474502
      HEAT; HEAT repeat [structural motif]
      cl25742
      Location:249342
      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_054339773.1XP_054195748.1  centrosomal protein of 104 kDa isoform X4

      UniProtKB/TrEMBL
      A0A6Q8PGB3
    2. XM_054339775.1XP_054195750.1  centrosomal protein of 104 kDa isoform X6

      UniProtKB/TrEMBL
      A0A6Q8PFR4
    3. XM_054339771.1XP_054195746.1  centrosomal protein of 104 kDa isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PHR0
    4. XM_054339776.1XP_054195751.1  centrosomal protein of 104 kDa isoform X7

      UniProtKB/TrEMBL
      A0A6Q8PFR4
    5. XM_054339772.1XP_054195747.1  centrosomal protein of 104 kDa isoform X3

      UniProtKB/TrEMBL
      A0A6Q8PGB3
    6. XM_054339774.1XP_054195749.1  centrosomal protein of 104 kDa isoform X5

      UniProtKB/TrEMBL
      A0A6Q8PFR4
    7. XM_054339770.1XP_054195745.1  centrosomal protein of 104 kDa isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PHR0
    8. XM_054339777.1XP_054195752.1  centrosomal protein of 104 kDa isoform X8

      UniProtKB/TrEMBL
      A0A6Q8PGF0