POC5 (POC5 centriolar protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 134359
Gene name POC5 centriolar protein
Gene symbol POC5
Synonyms (NCBI Gene)
C5orf37
Chromosome 5
Chromosome location 5q13.3
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1561480377 CT>- Uncertain-significance, pathogenic Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
20
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT613581 hsa-miR-7109-3p HITS-CLIP 23824327
MIRT613580 hsa-miR-6819-3p HITS-CLIP 23824327
MIRT613579 hsa-miR-6877-3p HITS-CLIP 23824327
MIRT613578 hsa-miR-643 HITS-CLIP 23824327
MIRT613577 hsa-miR-2682-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 26638075, 27107012, 28514442, 29892012, 30845169, 31515488, 32296183, 32814053, 33961781, 35271311, 35709258
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 21399614, 37934472
GO:0005813 Component Centrosome IEA
GO:0005814 Component Centriole IDA 32110738, 32946374, 37934472
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617880 26658 ENSG00000152359
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NA72
Protein name Centrosomal protein POC5 (Protein of centriole 5) (hPOC5)
Protein function Essential for the assembly of the distal half of centrioles, required for centriole elongation (PubMed:19349582, PubMed:32946374). Acts as a negative regulator of centriole elongation (PubMed:37934472). {ECO:0000269|PubMed:19349582, ECO:0000269|
Family and domains
Sequence 
MSSDEEKYSLPVVQNDSSRGSSVSSNLQEEYEELLHYAIVTPNIEPCASQSSHPKGELVP
DVRISTIHDILHSQGNNSEVRETAIEVGKGCDFHISSHSKTDESSPVLSPRKPSHPVMDF
FSSHLLADSSSPATNSSHTDAHEILVSDFLVSDENLQKMENVLDLWSSGLKTNIISELSK
WRLNFIDWHRMEMRKEKEKHAAHLKQLCNQINELKELQKTFEISIGRKDEVISSLSHAIG
KQKEKIELMRTFFHWRIGHVRARQDVYEGKLADQYYQRTLLKKVWKVWRSVVQKQWKDVV
ERACQARAEEVCIQISNDYEAKVAMLSGALENAKAEIQRMQHEKEHFEDSMKKAFMRGVC
ALNLEAMTIFQNRNDAGIDSTNNKKEEYGPGVQGKEHSAHLDPSAPPMPLPVTSPLLPSP
PAAVGGASATAVPSAASMTSTRAASASSVHVPVSALGAGSAATAASEEMYVPRVVTSAQQ
KAGRTITARITGRCDFASKNRISSSLAIMGVSPPMSSVVVEKHHPVTVQTIPQATAAKYP
RTIHPESSTSASRSLGTRSAHTQSLTSVHSIKVVD
Sequence length 575
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (16)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs150060329 RCV005925783
Cholangiocarcinoma Benign rs17563610 RCV005926324
Clear cell carcinoma of kidney Likely benign rs202232412 RCV005921242
Familial cancer of breast Benign rs150060329, rs17563610 RCV005925782
RCV005926320
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Obesity Associate 26537541
Scoliosis Associate 34356048, 37239471
Smoke Inhalation Injury Associate 26537541
Snoring Associate 32060260