CEP164 centrosomal protein 164kDa [Homo sapiens] - Gene

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Summary

Official Symbol: CEP164provided by HGNC
Official Full Name: centrosomal protein 164kDaprovided by HGNC
Primary source: HGNC:29182
See related: Ensembl:ENSG00000110274; HPRD:10854; Vega:OTTHUMG00000167070
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FLJ54767; KIAA1052

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Genomic context

Location :: 11q23.3

Sequence :: Chromosome: 11; NC_000011.9 (117198571..117283982)

See CEP164 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Results show that Cep164 knockdown compromises the cell survival upon UV damage, and that UV irradiation significantly enhances the interaction between Cep164 and XPA.
Title: UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity.
Cep164 is a key player in the DNA damage-activated signaling cascade.
Title: Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1.
These data implicate distal appendages in primary cilia formation and identify Cep164 as an excellent marker for these structures.
Title: Cep164, a novel centriole appendage protein required for primary cilium formation.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:116561	BioGRID:107027	ATR	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:116561	BioGRID:313463	ATRIP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:116561	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

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
mitosis	IEA Inferred from Electronic Annotation more info
mitotic cell cycle	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
centriole	IEA Inferred from Electronic Annotation more info
centrosome	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoskeleton	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: centrosomal protein of 164 kDa

Names: centrosomal protein of 164 kDa

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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.

mRNA and Protein(s)

NM_014956.4 → NP_055771.4 centrosomal protein of 164 kDa

Status: VALIDATED

Source sequence(s)

AB028975, AL833532, AP001822, BX648682

Consensus CDS

CCDS31683.1

UniProtKB/Swiss-Prot

Q9UPV0

Related

ENSP00000278935, OTTHUMP00000235011, ENST00000278935, OTTHUMT00000392893

Conserved Domains (5) summary

pfam11180
Location:940 – 1027
Blast Score: 93

DUF2968; Protein of unknown function (DUF2968)

TIGR02168
Location:696 – 1054
Blast Score: 181

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cl11943
Location:720 – 786
Blast Score: 86

Activator-TraM; Transcriptional activator TraM

pfam09731
Location:531 – 782
Blast Score: 100

Mitofilin; Mitochondrial inner membrane protein

cl00157
Location:58 – 87
Blast Score: 103

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 ...

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

117198571..117283982

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

113132403..113217565

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP000892.4 (126336..149842)	None
genomic	AP001822.4 (65516..127421)	None
genomic	CH471065.1	EAW67318.1
		EAW67319.1
		EAW67320.1
		EAW67321.1
mRNA	AB028975.1	BAA83004.2
mRNA	AK001412.1	BAA91677.1
mRNA	AK125995.1	BAC86384.1
mRNA	AK302991.1	BAH13870.1
mRNA	AK303067.1	BAG64184.1
mRNA	AL117632.1	CAB56023.1
mRNA	AL137265.1	CAB70664.1
mRNA	AL833532.1	None
mRNA	BC000602.2	AAH00602.1
mRNA	BC054015.1	AAH54015.1
mRNA	BX647583.1	None
mRNA	BX648682.1	None
other-genetic	BC152748.1	AAI52749.1
other-genetic	BC156876.1	AAI56877.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q6ZU43	GenPept	UniProtKB/TrEMBL:Q6ZU43
Q9NTH6	GenPept	UniProtKB/TrEMBL:Q9NTH6
Q9UPV0.3	GenPept	UniProtKB/Swiss-Prot:Q9UPV0