SNAPC5 (small nuclear RNA activating complex polypeptide 5)

Gene

• Entrez ID: 10302
• Gene name: Small nuclear RNA activating complex polypeptide 5
• Gene symbol: SNAPC5
• Synonyms (NCBI Gene): SNAP19
• Chromosome: 15
• Chromosome location: 15q22.31
• Summary: This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits o

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029459	hsa-miR-26b-5p	Microarray	19088304
MIRT1375287	hsa-miR-1245b-3p	CLIP-seq
MIRT1375288	hsa-miR-197	CLIP-seq
MIRT1375289	hsa-miR-3140-3p	CLIP-seq
MIRT1375290	hsa-miR-3942-3p	CLIP-seq
MIRT1375291	hsa-miR-4315	CLIP-seq
MIRT1375292	hsa-miR-4659a-5p	CLIP-seq
MIRT1375293	hsa-miR-4659b-5p	CLIP-seq
MIRT1375294	hsa-miR-4776-3p	CLIP-seq
MIRT1375295	hsa-miR-4790-5p	CLIP-seq
MIRT1375296	hsa-miR-5096	CLIP-seq
MIRT1375297	hsa-miR-576-3p	CLIP-seq
MIRT1375298	hsa-miR-593	CLIP-seq
MIRT1375299	hsa-miR-876-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000995	Function	RNA polymerase III general transcription initiation factor activity	IDA	9732265
GO:0005515	Function	Protein binding	IPI	11056176, 16189514, 21516116, 25416956, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9732265
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006384	Process	Transcription initiation at RNA polymerase III promoter	IEA
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	9732265
GO:0016604	Component	Nuclear body	IDA
GO:0042795	Process	SnRNA transcription by RNA polymerase II	IDA	9732265
GO:0042796	Process	SnRNA transcription by RNA polymerase III	IDA	9732265

Other IDs

• MIM: 605979
• HGNC: 15484
• e!Ensembl: ENSG00000174446

Protein

• UniProt ID: O75971
• Protein name: snRNA-activating protein complex subunit 5 (SNAPc subunit 5) (Small nuclear RNA-activating complex polypeptide 5) (snRNA-activating protein complex 19 kDa subunit) (SNAPc 19 kDa subunit)
• 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: 7ZWC, 7ZWD, 7ZX7, 7ZX8, 7ZXE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15497	SNAPc19	7 → 97	snRNA-activating protein complex subunit 19, SNAPc subunit 19	Family

• Sequence:

  MLSRLQELRKEEETLLRLKAALHDQLNRLKVEELALQSMISSRRGDEMLSSHTVPEQSHD
  MLVHVDNEASINQTTLELSTKSHVTEEEEEEEEEESDS

• Sequence length: 98

Pathways

Reactome:

RNA polymerase II transcribes snRNA genes
RNA Polymerase III Transcription Initiation From Type 3 Promoter

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIO-FACIO-CUTANEOUS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOFACIOCUTANEOUS SYNDROME 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NOONAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NOONAN SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NOONAN SYNDROME AND NOONAN-RELATED SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37441804	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CLINVAR_DG	22197931		★☆☆☆☆ Found in Text Mining only