Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 6617
Gene name Small nuclear RNA activating complex polypeptide 1
Gene symbol SNAPC1
Synonyms (NCBI Gene)
PTFgammaSNAP43
Chromosome 14
Chromosome location 14q23.2
miRNA miRNA information provided by mirtarbase database.
293 Show/Hide all (293)
miRTarBase ID miRNA Experiments Reference
MIRT019697 hsa-miR-375 Microarray 20215506
MIRT1375126 hsa-miR-1185 CLIP-seq
MIRT1375127 hsa-miR-1225-3p CLIP-seq
MIRT1375128 hsa-miR-1228 CLIP-seq
MIRT1375129 hsa-miR-1233 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
POU2F1 Unknown 9644240
SP1 Unknown 9644240
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12 Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0000995 Function RNA polymerase III general transcription initiation factor activity TAS 9418884
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 11056176, 28514442, 32296183, 33961781, 36369505
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600591 11134 ENSG00000023608
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16533
Protein name snRNA-activating protein complex subunit 1 (SNAPc subunit 1) (Proximal sequence element-binding transcription factor subunit gamma) (PSE-binding factor subunit gamma) (PTF subunit gamma) (Small nuclear RNA-activating complex polypeptide 1) (snRNA-activati
Protein function Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TB
PDB 7XUR , 7ZWC , 7ZWD , 7ZX7 , 7ZX8 , 7ZXE , 8ITY , 8IUE , 8IUH , 9FSO , 9FSP , 9FSQ , 9FSR , 9FSS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09808 SNAPc_SNAP43 7 → 191 Small nuclear RNA activating complex (SNAPc), subunit SNAP43 Family
Sequence
MGTPPGLQTDCEALLSRFQETDSVRFEDFTELWRNMKFGTIFCGRMRNLEKNMFTKEALA
LAWRYFLPPYTFQIRVGALYLLYGLYNTQLCQPKQKIRVALKDWDEVLKFQQDLVNAQHF
DAAYIFRKLRLDRAFHFTAMPKLLSYRMKKKIHRAEVTEEFKDPSDRVMKLITSDVLEEM
LNVHDHYQNMK
HVISVDKSKPDKALSLIKDDFFDNIKNIVLEHQQWHKDRKNPSLKSKTN
DGEEKMEGNSQETERCERAESLAKIKSKAFSVVIQASKSRRHRQVKLDSSDSDSASGQGQ
VKATRKKEKKERLKPAGRKMSLRNKGNVQNIHKEDKPLSLSMPVITEEEENESLSGTEFT
ASKKRRKH
Sequence length 368
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
RNA polymerase II transcribes snRNA genes
RNA Polymerase III Transcription Initiation From Type 3 Promoter
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Reference Evidence Score
Adrenocortical carcinoma, hereditary Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Malignant neoplasm of breast Breast Cancer BEFREE 12168092
★★★★★
★☆☆☆☆
Found in Text Mining only