Gene Gene information from NCBI Gene database.
Entrez ID 133619
Gene name Proline rich coiled-coil 1
Gene symbol PRRC1
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q23.2
miRNA miRNA information provided by mirtarbase database.
856
miRTarBase ID miRNA Experiments Reference
MIRT016549 hsa-miR-193b-3p Proteomics 21512034
MIRT026873 hsa-miR-192-5p Microarray 19074876
MIRT031021 hsa-miR-21-5p Microarray 18591254
MIRT214153 hsa-miR-224-3p HITS-CLIP 19536157
MIRT214154 hsa-miR-522-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 25959826, 32814053, 35044719
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IEA
GO:0010669 Process Epithelial structure maintenance IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
621301 28164 ENSG00000164244
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96M27
Protein name Protein PRRC1 (Proline-rich and coiled-coil-containing protein 1)
Protein function May act as a regulator of the protein kinase A (PKA) activity during embryonic development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01931 NTPase_I-T 263 383 Protein of unknown function DUF84 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in kidney, liver and placenta (PubMed:15541471). Detected in embryonic kidney cells (HEK293 cells) (at protein level) (PubMed:20018846). {ECO:0000269|PubMed:15541471, ECO:0000269|PubMed:200
Sequence
MMEESGIETTPPGTPPPNPAGLAATAMSSTPVPLAATSSFSSPNVSSMESFPPLAYSTPQ
PPLPPVRPSAPLPFVPPPAVPSVPPLVTSMPPPVSPSTAAAFGNPPVSHFPPSTSAPNTL
LPAPPSGPPISGFSVGSTYDITRGHAGRAPQTPLMPSFSAPSGTGLLPTPITQQASLTSL
AQGTGTTSAITFPEEQEDPRITRGQDEASAGGIWGFIKGVAGNPMVKSVLDKTKHSVESM
ITTLDPGMAPYIKSGGELDIVVTSNKEVKVAAVRDAFQEVFGLAVVVGEAGQSNIAPQPV
GYAAGLKGAQERIDSLRRTGVIHEKQTAVSVENFIAELLPDKWFDIGCLVVEDPVHGIHL
ETFTQATPVPLEFVQQAQSLTPQ
DYNLRWSGLLVTVGEVLEKSLLNVSRTDWHMAFTGMS
RRQMIYSAARAIAGMYKQRLPPRTV
Sequence length 445
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
TREATMENT-RESISTANT HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations