Format

Send to:

Choose Destination

CEP164 centrosomal protein 164 [ Homo sapiens (human) ]

Gene ID: 22897, updated on 12-Aug-2018

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; Vega:OTTHUMG00000167070
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

Genomic context

See CEP164 in Genome Data Viewer
Location:
11q23.3
Exon count:
40
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (117316346..117413266)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117184792..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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
    AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Centrosome maturation, organism-specific biosystem (from REACTOME)
    Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • G2/M Transition, organism-specific biosystem (from REACTOME)
    G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
  • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
    Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
  • Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
    Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
  • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
    Mitotic G2-G2/M phases, organism-specific biosystem
    Mitotic G2-G2/M phases
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
    Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
  • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
    Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA repair IEA
Inferred from Electronic Annotation
more info
 
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
centriole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary transition fiber IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary transition fiber IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    11078..96489
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271933.1NP_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_014956.4NP_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, AP001822, BX648682
    Consensus CDS
    CCDS31683.1
    UniProtKB/Swiss-Prot
    Q9UPV0
    Related
    ENSP00000278935.3, OTTHUMP00000235011, ENST00000278935.7, OTTHUMT00000392893
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 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

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

Support Center