RSRC1
entrez
51319
canonical
uniprot
Q96IZ7
canonical
ensembl
ENSG00000174891
resolver
ensp
ENSP00000295930
resolver
ensp
ENSP00000308671
resolver
ensp
ENSP00000417302
resolver
ensp
ENSP00000481697
resolver
ensp
ENSP00000551725
resolver
ensp
ENSP00000776179
resolver
genesymbol
RSRC1
resolver
genesymbol_syn
SRRP53
resolver
hgnc
HGNC:24152
resolver
uniprot
A8K2R9
resolver
uniprot
Q96QK2
resolver
uniprot
Q9NZE5
resolver
uniprot_entry
RSRC1_HUMAN
resolver
uniprot_sec
A8K2R9
resolver
uniprot_sec
Q96QK2
resolver
uniprot_sec
Q9NZE5
resolver
amino_acid_sequence
MGRRSSDTEEESRSKRKKKHRRRSSSSSSSDSRTYSRKKGGRKSRSKSRSWSRDLQPRSHSYDRRRRHRSSSSSSYGSRRKRSRSRSRGRGKSYRVQRSRSKSRTRRSRSRPRLRSHSRSSERSSHRRTRSRSRDRERRKGRDKEKREKEKDKGKDKELHNIKRGESGNIKAGLEHLPPAEQAKARLQLVLEAAAKADEALKAKERNEEEAKRRKEEDQATLVEQVKRVKEIEAIESDSFVQQTFRSSKEVKKSVEPSEVKQATSTSGPASAVADPPSTEKEIDPTSIPTAIKYQDDNSLAHPNLFIEKADAEEKWFKRLIALRQERLMGSPVA
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 70 (MRT70) [MIM:618402]: A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT70 patients manifest impaired intellectual development, mild facial dysmorphism, febrile seizures, and behavioral abnormalities. {ECO:0000269|PubMed:28640246, ECO:0000269|PubMed:29522154}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Has a role in alternative splicing and transcription regulation (PubMed:29522154). Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3' splice site during the second step of splicing. {ECO:0000269|PubMed:15798186, ECO:0000269|PubMed:29522154}.
uniprot
proteins
mass_dalton
38677
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000250|UniProtKB:Q9DBU6}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15798186
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
28640246
uniprot
proteins
pubmed
29522154
uniprot
proteins
sequence_length
334
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Nucleus speckle {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Shuttles between the nucleus and cytoplasm. {ECO:0000250}.
uniprot
proteins