PPP1R42 (protein phosphatase 1 regulatory subunit 42)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
286187
Gene name Gene Name - the full gene name approved by the HGNC.
Protein phosphatase 1 regulatory subunit 42
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPP1R42
Synonyms (NCBI Gene) Gene synonyms aliases
LRRC67, TLLR, TLRR, dtr
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [provi
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0002177 Component Manchette ISS
GO:0003779 Function Actin binding ISS
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IEA
GO:0005813 Component Centrosome ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617720 33732 ENSG00000178125
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q7Z4L9
Protein name Protein phosphatase 1 regulatory subunit 42 (Leucine-rich repeat-containing protein 67)
Protein function Regulates phosphatase activity of protein phosphatase 1 (PP1) complexes in the testis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12799 LRR_4 72 → 114 Leucine Rich repeats (2 copies) Repeat
PF14580 LRR_9 139 → 256 Repeat
Sequence 
MVRLTLDLIARNSNLKPRKEETISQCLKKITHINFSDKNIDAIEDLSLCKNLSVLYLYDN
CISQITNLNYATNLTHLYLQNNCISCIENLRSLKKLEKLYLGGNYIAVIEGLEGLGELRE
LHVENQRLPLGEKLLFDPRTLHSLAKSLCILNISNNNIDDITDLELLENLNQLIAVDNQL
LHVKDLEFLLNKLMKLWKIDLNGNPVCLKPKYRDRLILVSKSLEFLDGKEIKNIERQFLM
NWKASKDAKKISKKRSSKNEDASNSLISNFKTMHHIVPVYYPQVGKPKLAFFSEIQRYPV
NANASPESS
Sequence length 309
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Neoplasms Associate 11350974
Neoplasms Squamous Cell Associate 21441953
Primary Myelofibrosis Associate 17976522