SNAPC4
entrez
6621
canonical
uniprot
Q5SXM2
canonical
ensembl
ENSG00000165684
resolver
ensp
ENSP00000298532
resolver
ensp
ENSP00000490037
resolver
ensp
ENSP00000510559
resolver
ensp
ENSP00000561571
resolver
ensp
ENSP00000561572
resolver
ensp
ENSP00000609598
resolver
ensp
ENSP00000609599
resolver
ensp
ENSP00000609600
resolver
enst
ENST00000298532
resolver
enst
ENST00000637388
resolver
enst
ENST00000684778
resolver
enst
ENST00000939539
resolver
enst
ENST00000939541
resolver
genesymbol
SNAPC4
resolver
genesymbol_syn
SNAP190
resolver
hgnc
HGNC:11137
resolver
uniprot
Q9Y6P7
resolver
uniprot_entry
SNPC4_HUMAN
resolver
uniprot_sec
Q9Y6P7
resolver
amino_acid_sequence
MDVDAEREKITQEIKELERILDPGSSGSHVEISESSLESDSEADSLPSEDLDPADPPISEEERWGEASNDEDDPKDKTLPEDPETCLQLNMVYQEVIQEKLAEANLLLAQNREQQEELMRDLAGSKGTKVKDGKSLPPSTYMGHFMKPYFKDKVTGVGPPANEDTREKAAQGIKAFEELLVTKWKNWEKALLRKSVVSDRLQRLLQPKLLKLEYLHQKQSKVSSELERQALEKQGREAEKEIQDINQLPEEALLGNRLDSHDWEKISNINFEGSRSAEEIRKFWQNSEHPSINKQEWSREEEERLQAIAAAHGHLEWQKIAEELGTSRSAFQCLQKFQQHNKALKRKEWTEEEDRMLTQLVQEMRVGSHIPYRRIVYYMEGRDSMQLIYRWTKSLDPGLKKGYWAPEEDAKLLQAVAKYGEQDWFKIREEVPGRSDAQCRDRYLRRLHFSLKKGRWNLKEEEQLIELIEKYGVGHWAKIASELPHRSGSQCLSKWKIMMGKKQGLRRRRRRARHSVRWSSTSSSGSSSGSSGGSSSSSSSSSEEDEPEQAQAGEGDRALLSPQYMVPDMDLWVPARQSTSQPWRGGAGAWLGGPAASLSPPKGSSASQGGSKEASTTAAAPGEETSPVQVPARAHGPVPRSAQASHSADTRPAGAEKQALEGGRRLLTVPVETVLRVLRANTAARSCTQKEQLRQPPLPTSSPGVSSGDSVARSHVQWLRHRATQSGQRRWRHALHRRLLNRRLLLAVTPWVGDVVVPCTQASQRPAVVQTQADGLREQLQQARLASTPVFTLFTQLFHIDTAGCLEVVRERKALPPRLPQAGARDPPVHLLQASSSAQSTPGHLFPNVPAQEASKSASHKGSRRLASSRVERTLPQASLLASTGPRPKPKTVSELLQEKRLQEARAREATRGPVVLPSQLLVSSSVILQPPLPHTPHGRPAPGPTVLNVPLSGPGAPAAAKPGTSGSWQEAGTSAKDKRLSTMQALPLAPVFSEAEGTAPAASQAPALGPGQISVSCPESGLGQSQAPAASRKQGLPEAPPFLPAAPSPTPLPVQPLSLTHIGGPHVATSVPLPVTWVLTAQGLLPVPVPAVVSLPRPAGTPGPAGLLATLLPPLTETRAAQGPRAPALSSSWQPPANMNREPEPSCRTDTPAPPTHALSQSPAEADGSVAFVPGEAQVAREIPEPRTSSHADPPEAEPPWSGRLPAFGGVIPATEPRGTPGSPSGTQEPRGPLGLEKLPLRQPGPEKGALDLEKPPLPQPGPEKGALDLGLLSQEGEAATQQWLGGQRGVRVPLLGSRLPYQPPALCSLRALSGLLLHKKALEHKATSLVVGGEAERPAGALQASLGLVRGQLQDNPAYLLLRARFLAAFTLPALLATLAPQGVRTTLSVPSRVGSESEDEDLLSELELADRDGQPGCTTATCPIQGAPDSGKCSASSCLDTSNDPDDLDVLRTRHARHTRKRRRLV
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction (NEDRSO) [MIM:620515]: An autosomal recessive disorder characterized by delayed motor development and developmental regression after the first year of life, followed by progressive spasticity with gait alterations, paraparesis, and oromotor dysfunction. Most individuals have cerebral, cerebellar, or basal ganglia volume loss. {ECO:0000269|PubMed:36965478}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 TBP and BRF2 to the U6 snRNA TATA box. {ECO:0000269|PubMed:12621023, ECO:0000269|PubMed:9418884}.
uniprot
proteins
mass_dalton
159433
uniprot
proteins
mutagenesis
MUTAGEN 94; /note="Q->A: Abolishes SNAPC5 binding in the absence of SNAPC1. Minimal effect on SNAPC5 binding in the presence of SNAPC1."; /evidence="ECO:0000269|PubMed:11056176"; MUTAGEN 94; /note="Q->L: Abolishes SNAPC5 binding in the absence of SNAPC1. Minimal effect on SNAPC5 binding in the presence of SNAPC1."; /evidence="ECO:0000269|PubMed:11056176"; MUTAGEN 115; /note="Q->L: Abolishes SNAPC5 binding in the absence of SNAPC1. Minimal effect on SNAPC5 binding in the presence of SNAPC1."; /evidence="ECO:0000269|PubMed:11056176"; MUTAGEN 1314; /note="L->A: Abolishes SNAPC2-binding."; /evidence="ECO:0000269|PubMed:11056176"; MUTAGEN 1355; /note="L->A: Abolishes SNAPC2-binding."; /evidence="ECO:0000269|PubMed:11056176"; MUTAGEN 1362; /note="L->A: Abolishes SNAPC2-binding."; /evidence="ECO:0000269|PubMed:11056176"; MUTAGEN 1364; /note="L->A: Abolishes SNAPC2-binding."; /evidence="ECO:0000269|PubMed:11056176"; MUTAGEN 1369; /note="L->A: Decreased binding to SNAPC2."; /evidence="ECO:0000269|PubMed:11056176
uniprot
proteins
pubmed
11056176
uniprot
proteins
pubmed
12621023
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
36965478
uniprot
proteins
pubmed
9418884
uniprot
proteins
sequence_length
1469
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00625}.
uniprot
proteins