NSRP1
entrez
84081
canonical
uniprot
Q9H0G5
canonical
ensembl
ENSG00000126653
resolver
ensp
ENSP00000247026
resolver
ensp
ENSP00000477862
resolver
ensp
ENSP00000740713
resolver
enst
ENST00000247026
resolver
enst
ENST00000612959
resolver
genesymbol
CCDC55
resolver
genesymbol
NSRP1
resolver
genesymbol_syn
CCDC55
resolver
genesymbol_syn
NSRP70
resolver
hgnc
HGNC:25305
resolver
uniprot
A0A024QZ33
resolver
uniprot
B7ZL27
resolver
uniprot
Q6FI71
resolver
uniprot_entry
A0A024QZ33_HUMAN
resolver
uniprot_entry
B7ZL27_HUMAN
resolver
uniprot_entry
NSRP1_HUMAN
resolver
uniprot_sec
Q6FI71
resolver
amino_acid_sequence
MAIPGRQYGLILPKKTQQLHPVLQKPSVFGNDSDDDDETSVSESLQREAAKKQAMKQTKLEIQKALAEDATVYEYDSIYDEMQKKKEENNPKLLLGKDRKPKYIHNLLKAVEIRKKEQEKRMEKKIQREREMEKGEFDDKEAFVTSAYKKKLQERAEEEEREKRAAALEACLDVTKQKDLSGFYRHLLNQAVGEEEVPKCSFREARSGIKEEKSRGFSNEVSSKNRIPQEKCILQTDVKVEENPDADSDFDAKSSADDEIEETRVNCRREKVIETPENDFKHHRSQNHSRSPSEERGHSTRHHTKGSRTSRGHEKREDQHQQKQSRDQENHYTDRDYRKERDSHRHREASHRDSHWKRHEQEDKPRARDQRERSDRVWKREKDREKYSQREQERDRQQNDQNRPSEKGEKEEKSKAKEEHMKVRKERYENNDKYRDREKREVGVQSSERNQDRKESSPNSRAKDKFLDQERSNKMRNMAKDKERNQEKPSNSESSLGAKHRLTEEGQEKGKEQERPPEAVSKFAKRNNEETVMSARDRYLARQMARVNAKTYIEKEDD
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (NEDSSBA) [MIM:620001]: An autosomal recessive disorder characterized by developmental delay apparent in infancy, impaired intellectual development with poor or absent speech, epilepsy, variable microcephaly, hypotonia, and spastic cerebral palsy. Brain abnormalities include simplified gyral pattern, defects of the operculum, and vermian hypoplasia. Death in early childhood may occur. {ECO:0000269|PubMed:34385670}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: RNA-binding protein that mediates pre-mRNA alternative splicing regulation (PubMed:21296756). Through CCDC118 regulation, may promote pre-adipocyte differentiation (By similarity). {ECO:0000250|UniProtKB:A0A8D0I1K1, ECO:0000269|PubMed:21296756}.
uniprot
proteins
mass_dalton
66390
uniprot
proteins
mutagenesis
MUTAGEN 536; /note="R->A: Loss of nuclear localization and alternative splicing activity."; /evidence="ECO:0000269|PubMed:21296756"; MUTAGEN 537; /note="D->A: Loss of nuclear localization and alternative splicing activity."; /evidence="ECO:0000269|PubMed:21296756
uniprot
proteins
protein_family
NSRP1 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21296756
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
34385670
uniprot
proteins
sequence_length
558
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21296756}. Nucleus speckle {ECO:0000269|PubMed:21296756}. Note=Colocalizes with splicing factors SRSF1 and SRSF2 in speckles. {ECO:0000269|PubMed:21296756}.
uniprot
proteins