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    CEP164 centrosomal protein 164 [ Homo sapiens (human) ]

    Gene ID: 22897, updated on 8-Jul-2021

    Summary

    Official Symbol
    CEP164provided by HGNC
    Official Full Name
    centrosomal protein 164provided by HGNC
    Primary source
    HGNC:HGNC:29182
    See related
    Ensembl:ENSG00000110274 MIM:614848
    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
    NPHP15
    Summary
    This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
    Expression
    Broad expression in testis (RPKM 9.7), endometrium (RPKM 3.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CEP164 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (117316346..117413266)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117192494..117283982)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ring finger protein 214 Neighboring gene BACE1 antisense RNA Neighboring gene beta-secretase 1 Neighboring gene proline rich 13 pseudogene 3 Neighboring gene DS cell adhesion molecule like 1 Neighboring gene uncharacterized LOC105369515 Neighboring gene uncharacterized LOC107984394

    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

    Homology

    Clone Names

    • FLJ54767, KIAA1052

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ciliary transition fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of ciliary transition fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    centrosomal protein of 164 kDa
    Names
    centrosomal protein 164kDa

    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_033032.1 RefSeqGene

      Range
      11077..96489
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271933.2NP_001258862.1  centrosomal protein of 164 kDa isoform 2

      See identical proteins and their annotated locations for NP_001258862.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, uses an alternate in-frame splice site at the 3' end of an exon, and uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (2) contains an alternate internal segment and lacks another alternate internal segment compared to isoform 1.
      Source sequence(s)
      AB028975, AL833532, AP001822
      UniProtKB/Swiss-Prot
      Q9UPV0
      Conserved Domains (5) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam15665
      Location:694903
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:927946
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:686771
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:795966
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. NM_014956.5NP_055771.4  centrosomal protein of 164 kDa isoform 1

      See identical proteins and their annotated locations for NP_055771.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB028975, AL833532, AP000892, AP001822, BX648682
      Consensus CDS
      CCDS31683.1
      UniProtKB/Swiss-Prot
      Q9UPV0
      Related
      ENSP00000278935.3, ENST00000278935.8
      Conserved Domains (5) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam15665
      Location:691900
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:924943
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:683768
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:792963
      GBP_C; Guanylate-binding protein, C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      117316346..117413266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017364.1XP_016872853.1  centrosomal protein of 164 kDa isoform X1

      Conserved Domains (6) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam09731
      Location:10401388
      Mitofilin; Mitochondrial inner membrane protein
      pfam15665
      Location:12731482
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:15061525
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:12651350
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:13741545
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. XM_017017366.1XP_016872855.1  centrosomal protein of 164 kDa isoform X1

      Conserved Domains (6) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam09731
      Location:10401388
      Mitofilin; Mitochondrial inner membrane protein
      pfam15665
      Location:12731482
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:15061525
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:12651350
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:13741545
      GBP_C; Guanylate-binding protein, C-terminal domain
    3. XM_017017384.1XP_016872873.1  centrosomal protein of 164 kDa isoform X18

    4. XM_017017365.1XP_016872854.1  centrosomal protein of 164 kDa isoform X1

      Conserved Domains (6) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam09731
      Location:10401388
      Mitofilin; Mitochondrial inner membrane protein
      pfam15665
      Location:12731482
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:15061525
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:12651350
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:13741545
      GBP_C; Guanylate-binding protein, C-terminal domain
    5. XM_017017367.1XP_016872856.1  centrosomal protein of 164 kDa isoform X1

      Conserved Domains (6) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam09731
      Location:10401388
      Mitofilin; Mitochondrial inner membrane protein
      pfam15665
      Location:12731482
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:15061525
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:12651350
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:13741545
      GBP_C; Guanylate-binding protein, C-terminal domain
    6. XM_017017374.1XP_016872863.1  centrosomal protein of 164 kDa isoform X9

    7. XM_006718788.1XP_006718851.1  centrosomal protein of 164 kDa isoform X5

      Conserved Domains (6) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam09731
      Location:10241371
      Mitofilin; Mitochondrial inner membrane protein
      pfam15665
      Location:12561465
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:14891508
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:12481333
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:13571528
      GBP_C; Guanylate-binding protein, C-terminal domain
    8. XM_011542674.1XP_011540976.1  centrosomal protein of 164 kDa isoform X1

      Conserved Domains (6) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam09731
      Location:10401388
      Mitofilin; Mitochondrial inner membrane protein
      pfam15665
      Location:12731482
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:15061525
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:12651350
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:13741545
      GBP_C; Guanylate-binding protein, C-terminal domain
    9. XM_017017369.1XP_016872858.1  centrosomal protein of 164 kDa isoform X3

    10. XM_017017368.1XP_016872857.1  centrosomal protein of 164 kDa isoform X2

    11. XM_017017370.1XP_016872859.1  centrosomal protein of 164 kDa isoform X4

    12. XM_017017376.1XP_016872865.1  centrosomal protein of 164 kDa isoform X10

    13. XM_017017378.1XP_016872867.1  centrosomal protein of 164 kDa isoform X12

    14. XM_005271453.1XP_005271510.1  centrosomal protein of 164 kDa isoform X6

      Conserved Domains (5) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam15665
      Location:12531462
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:14861505
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:12451330
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:13541525
      GBP_C; Guanylate-binding protein, C-terminal domain
    15. XM_017017371.1XP_016872860.1  centrosomal protein of 164 kDa isoform X7

    16. XM_017017372.1XP_016872861.1  centrosomal protein of 164 kDa isoform X8

    17. XM_005271457.1XP_005271514.1  centrosomal protein of 164 kDa isoform X15

      See identical proteins and their annotated locations for XP_005271514.1

      UniProtKB/Swiss-Prot
      Q9UPV0
      Conserved Domains (5) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam15665
      Location:694903
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:927946
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:686771
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:795966
      GBP_C; Guanylate-binding protein, C-terminal domain
    18. XM_017017379.1XP_016872868.1  centrosomal protein of 164 kDa isoform X13

    19. XM_005271456.1XP_005271513.1  centrosomal protein of 164 kDa isoform X14

      See identical proteins and their annotated locations for XP_005271513.1

      UniProtKB/Swiss-Prot
      Q9UPV0
      Conserved Domains (5) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam15665
      Location:691900
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:924943
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:683768
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:792963
      GBP_C; Guanylate-binding protein, C-terminal domain
    20. XM_017017381.1XP_016872870.1  centrosomal protein of 164 kDa isoform X16

    21. XM_006718794.1XP_006718857.1  centrosomal protein of 164 kDa isoform X17

      Conserved Domains (5) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam15665
      Location:665874
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:898917
      GBP_C; coiled coil [structural motif]
      cl00144
      Location:657742
      Tar_Tsr_LBD; ligand binding domain of Tar- and Tsr-related chemoreceptors
      cl20817
      Location:766937
      GBP_C; Guanylate-binding protein, C-terminal domain
    22. XM_011542690.1XP_011540992.1  centrosomal protein of 164 kDa isoform X21

      Related
      ENSP00000491956.1, ENST00000639320.1
      Conserved Domains (1) summary
      cd00201
      Location:5989
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    23. XM_017017383.1XP_016872872.1  centrosomal protein of 164 kDa isoform X18

    24. XM_017017386.1XP_016872875.1  centrosomal protein of 164 kDa isoform X20

    25. XM_017017377.2XP_016872866.1  centrosomal protein of 164 kDa isoform X11

    26. XM_017017373.2XP_016872862.1  centrosomal protein of 164 kDa isoform X9

    27. XM_017017375.2XP_016872864.1  centrosomal protein of 164 kDa isoform X9

    28. XM_017017380.1XP_016872869.1  centrosomal protein of 164 kDa isoform X13

    29. XM_017017382.1XP_016872871.1  centrosomal protein of 164 kDa isoform X16

    30. XM_017017385.1XP_016872874.1  centrosomal protein of 164 kDa isoform X19

      Related
      ENST00000533706.5

    RNA

    1. XR_428971.3 RNA Sequence

    2. XR_002957132.1 RNA Sequence

    3. XR_001747794.1 RNA Sequence

    4. XR_001747793.1 RNA Sequence

    5. XR_002957133.1 RNA Sequence

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