SNAPC4 (small nuclear RNA activating complex polypeptide 4)

Gene

• Entrez ID: 6621
• Gene name: Small nuclear RNA activating complex polypeptide 4
• Gene symbol: SNAPC4
• Synonyms (NCBI Gene): NEDRSO, PTFalpha, SNAP190
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promote

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050783	hsa-miR-17-3p	CLASH	23622248
MIRT048015	hsa-miR-30c-5p	CLASH	23622248
MIRT037706	hsa-miR-744-5p	CLASH	23622248
MIRT2111635	hsa-miR-4325	CLIP-seq
MIRT2334793	hsa-miR-3615	CLIP-seq
MIRT2334794	hsa-miR-593	CLIP-seq
MIRT2334795	hsa-miR-626	CLIP-seq
MIRT2394910	hsa-miR-2110	CLIP-seq
MIRT2394911	hsa-miR-3150a-3p	CLIP-seq
MIRT2394912	hsa-miR-4271	CLIP-seq
MIRT2394913	hsa-miR-4725-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000995	Function	RNA polymerase III general transcription initiation factor activity	IDA	9418884
GO:0001006	Function	RNA polymerase III type 3 promoter sequence-specific DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	9418884, 11056176
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11056176, 28514442, 33961781, 36369505
GO:0005634	Component	Nucleus	IC	11056176
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7715707
GO:0005654	Component	Nucleoplasm	TAS
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	9418884
GO:0019185	Component	SnRNA-activating protein complex	IBA
GO:0019185	Component	SnRNA-activating protein complex	IDA	9418884, 11056176
GO:0042795	Process	SnRNA transcription by RNA polymerase II	IBA
GO:0042795	Process	SnRNA transcription by RNA polymerase II	IDA	9418884
GO:0042796	Process	SnRNA transcription by RNA polymerase III	IBA
GO:0042796	Process	SnRNA transcription by RNA polymerase III	IDA	9418884

Other IDs

• MIM: 602777
• HGNC: 11137
• e!Ensembl: ENSG00000165684

Protein

• UniProt ID: Q5SXM2
• Protein name: snRNA-activating protein complex subunit 4 (SNAPc subunit 4) (Proximal sequence element-binding transcription factor subunit alpha) (PSE-binding factor subunit alpha) (PTF subunit alpha) (snRNA-activating protein complex 190 kDa subunit) (SNAPc 190 kDa su
• 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
  PF13921	Myb_DNA-bind_6	297 → 357		Domain
  PF00249	Myb_DNA-binding	401 → 447	Myb-like DNA-binding domain	Domain
  PF00249	Myb_DNA-binding	453 → 497	Myb-like DNA-binding domain	Domain

• Sequence:

  MDVDAEREKITQEIKELERILDPGSSGSHVEISESSLESDSEADSLPSEDLDPADPPISE
  EERWGEASNDEDDPKDKTLPEDPETCLQLNMVYQEVIQEKLAEANLLLAQNREQQEELMR
  DLAGSKGTKVKDGKSLPPSTYMGHFMKPYFKDKVTGVGPPANEDTREKAAQGIKAFEELL
  VTKWKNWEKALLRKSVVSDRLQRLLQPKLLKLEYLHQKQSKVSSELERQALEKQGREAEK
  EIQDINQLPEEALLGNRLDSHDWEKISNINFEGSRSAEEIRKFWQNSEHPSINKQEWSRE
  EEERLQAIAAAHGHLEWQKIAEELGTSRSAFQCLQKFQQHNKALKRKEWTEEEDRMLTQL
  VQEMRVGSHIPYRRIVYYMEGRDSMQLIYRWTKSLDPGLKKGYWAPEEDAKLLQAVAKYG
  EQDWFKIREEVPGRSDAQCRDRYLRRLHFSLKKGRWNLKEEEQLIELIEKYGVGHWAKIA
  SELPHRSGSQCLSKWKIMMGKKQGLRRRRRRARHSVRWSSTSSSGSSSGSSGGSSSSSSS
  SSEEDEPEQAQAGEGDRALLSPQYMVPDMDLWVPARQSTSQPWRGGAGAWLGGPAASLSP
  PKGSSASQGGSKEASTTAAAPGEETSPVQVPARAHGPVPRSAQASHSADTRPAGAEKQAL
  EGGRRLLTVPVETVLRVLRANTAARSCTQKEQLRQPPLPTSSPGVSSGDSVARSHVQWLR
  HRATQSGQRRWRHALHRRLLNRRLLLAVTPWVGDVVVPCTQASQRPAVVQTQADGLREQL
  QQARLASTPVFTLFTQLFHIDTAGCLEVVRERKALPPRLPQAGARDPPVHLLQASSSAQS
  TPGHLFPNVPAQEASKSASHKGSRRLASSRVERTLPQASLLASTGPRPKPKTVSELLQEK
  RLQEARAREATRGPVVLPSQLLVSSSVILQPPLPHTPHGRPAPGPTVLNVPLSGPGAPAA
  AKPGTSGSWQEAGTSAKDKRLSTMQALPLAPVFSEAEGTAPAASQAPALGPGQISVSCPE
  SGLGQSQAPAASRKQGLPEAPPFLPAAPSPTPLPVQPLSLTHIGGPHVATSVPLPVTWVL
  TAQGLLPVPVPAVVSLPRPAGTPGPAGLLATLLPPLTETRAAQGPRAPALSSSWQPPANM
  NREPEPSCRTDTPAPPTHALSQSPAEADGSVAFVPGEAQVAREIPEPRTSSHADPPEAEP
  PWSGRLPAFGGVIPATEPRGTPGSPSGTQEPRGPLGLEKLPLRQPGPEKGALDLEKPPLP
  QPGPEKGALDLGLLSQEGEAATQQWLGGQRGVRVPLLGSRLPYQPPALCSLRALSGLLLH
  KKALEHKATSLVVGGEAERPAGALQASLGLVRGQLQDNPAYLLLRARFLAAFTLPALLAT
  LAPQGVRTTLSVPSRVGSESEDEDLLSELELADRDGQPGCTTATCPIQGAPDSGKCSASS
  CLDTSNDPDDLDVLRTRHARHTRKRRRLV

• Sequence length: 1469

Pathways

Reactome:

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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction	Pathogenic; Likely pathogenic	rs754828592, rs2538735580, rs144864297, rs777017571, rs1194239835	RCV003330120 RCV003330121 RCV003330122 RCV003330123 RCV003330124

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Long QT syndrome	Likely benign	rs771245174	RCV000190178
Malignant tumor of urinary bladder	Uncertain significance	rs150446568	RCV005929058

Associations from Text Mining
Disease Name	Relationship Type	References
Basal Ganglia Diseases	Associate	36965478
Gait Ataxia	Associate	36965478
Heart Diseases	Associate	36965478
Muscle Spasticity	Associate	36965478
Paraparesis	Associate	36965478
Paraparesis Spastic	Associate	36965478