PPP1R35 (protein phosphatase 1 regulatory subunit 35)

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Gene Gene information from NCBI Gene database.
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Entrez ID 221908
Gene name Protein phosphatase 1 regulatory subunit 35
Gene symbol PPP1R35
Synonyms (NCBI Gene)
C7orf47
Chromosome 7
Chromosome location 7q22.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17 Show/Hide all (17)
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GO ID Ontology Definition Evidence Reference
GO:0004864 Function Protein phosphatase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 30168418, 30230954
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 30168418
GO:0005813 Component Centrosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
618937 28320 ENSG00000160813
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TAP8
Protein name Protein phosphatase 1 regulatory subunit 35
Protein function During centriole duplication, plays a role in the centriole elongation by promoting the recruitment of the microtubule-binding elongation machinery through its interaction with RTTN, leading to the centriole to centrosome conversion (PubMed:3016
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15503 PPP1R35_C 104 → 248 Protein phosphatase 1 regulatory subunit 35 C-terminus Family
Sequence 
MMMGCGESELKSADGEEAAAVPGPPPEPQVPQLRAPVPEPGLDLSLSPRPDSPQPRHGSP
GRRKGRAERRGAARQRRQVRFRLTPPSPVRSEPQPAVPQELEMPVLKSSLALGLELRAAA
GSHFDAAKAVEEQLRKSFQIRCGLEESVSEGLNVPRSKRLFRDLVSLQVPEEQVLNAALR
EKLALLPPQARAPHPKEPPGPGPDMTILCDPETLFYESPHLTLDGLPPLRLQLRPRPSED
TFLMHRTLRRWEA
Sequence length 253
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Progressive microcephaly Pathogenic rs2485666331 RCV002281594
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Microcephaly Microcephaly Pubtator 30168418 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for PPP1R35.

No additional diseases found yet through genes similar to PPP1R35.