FRA10AC1
entrez
118924
canonical
uniprot
Q70Z53
canonical
ensembl
ENSG00000148690
resolver
ensp
ENSP00000360488
resolver
ensp
ENSP00000575813
resolver
ensp
ENSP00000575814
resolver
ensp
ENSP00000590778
resolver
ensp
ENSP00000629397
resolver
genesymbol
FRA10AC1
resolver
genesymbol_syn
C10orf4
resolver
hgnc
HGNC:1162
resolver
uniprot
C9JCR4
resolver
uniprot
C9JCR5
resolver
uniprot
C9JMY4
resolver
uniprot
Q70Z49
resolver
uniprot
Q70Z50
resolver
uniprot
Q70Z51
resolver
uniprot
Q70Z52
resolver
uniprot
Q8N293
resolver
uniprot
Q8WVH5
resolver
uniprot
Q96JQ8
resolver
uniprot_entry
F10C1_HUMAN
resolver
uniprot_sec
C9JCR4
resolver
uniprot_sec
C9JCR5
resolver
uniprot_sec
C9JMY4
resolver
uniprot_sec
Q70Z49
resolver
uniprot_sec
Q70Z50
resolver
uniprot_sec
Q70Z51
resolver
uniprot_sec
Q70Z52
resolver
uniprot_sec
Q8N293
resolver
uniprot_sec
Q8WVH5
resolver
uniprot_sec
Q96JQ8
resolver
amino_acid_sequence
MHGHGGYDSDFSDDERCGESSKRKKRTVEDDLLLQKPFQKEKHGKVAHKQVAAELLDREEARNRRFHLIAMDAYQRHTKFVNDYILYYGGKKEDFKRLGENDKTDLDVIRENHRFLWNEEDEMDMTWEKRLAKKYYDKLFKEYCIADLSKYKENKFGFRWRVEKEVISGKGQFFCGNKYCDKKEGLKSWEVNFGYIEHGEKRNALVKLRLCQECSIKLNFHHRRKEIKSKKRKDKTKKDCEESSHKKSRLSSAEEASKKKDKGHSSSKKSEDSLLRNSDEEESASESELWKGPLPETDEKSQEEEFDEYFQDLFL
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC) [MIM:620113]: An autosomal recessive neurodevelopmental disorder characterized by developmental delay, intellectual disability, and absent speech. Patients have microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism. {ECO:0000269|PubMed:34694367, ECO:0000269|PubMed:35821753, ECO:0000269|PubMed:35871492}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in pre-mRNA splicing. {ECO:0000269|PubMed:34694367}.
uniprot
proteins
mass_dalton
37548
uniprot
proteins
pubmed
11483580
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15203205
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
34694367
uniprot
proteins
pubmed
35821753
uniprot
proteins
pubmed
35871492
uniprot
proteins
sequence_length
315
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15203205, ECO:0000269|PubMed:34694367}.
uniprot
proteins