CCDC174
entrez
51244
canonical
uniprot
Q6PII3
canonical
ensembl
ENSG00000154781
resolver
ensp
ENSP00000302344
resolver
ensp
ENSP00000373304
resolver
ensp
ENSP00000662953
resolver
enst
ENST00000303688
resolver
enst
ENST00000383794
resolver
genesymbol
CCDC174
resolver
genesymbol_syn
C3orf19
resolver
hgnc
HGNC:28033
resolver
uniprot
A0A0B4J1R8
resolver
uniprot
Q96CS5
resolver
uniprot_entry
A0A0B4J1R8_HUMAN
resolver
uniprot_entry
CC174_HUMAN
resolver
uniprot_sec
Q96CS5
resolver
amino_acid_sequence
MDRRKKPLDVTASSLVDLKAELFRKQEEFKQEKLLKDSGVFGKPKTTNKKPSIWSKQNVGVSNRAEKDAEQKIEEQKTLDKAREKLEEKAKLYEKMTKGDFIDEEVEDMYLVDFTQKIIDKRKEMEASGAHRDSQKAGERDDDEENLPEGEIPPPQDPSEEWVDYVDSLGRSRRCMRKDLPDLLEMDKNLQGRLFISPANEKTLLSEDMRKELQRQQWEEEEREALKRPMGPVHYEDIRENEARQLGVGYFAFARDKELRNKQMKTLEMLREQTTDQRTKRENIKEKRKAILEARLAKLRQKKMKKSKEGGTEEENRDGDVIGPLPPEPEAVPTPRPAAQSSKVEVIVQERKDTKPGVPHIREWDRGKEFSFGYWSKRQSDLRAERDPEFAPPSDYFVGQKRTGFSSSQAWSRPGPAQSDPGQCPDQSHGPSPEHTSPTPAPDNPPQAPTVTFKTLDDMISYYKQVT
uniprot
proteins
disease_involvement
DISEASE: Hypotonia, infantile, with psychomotor retardation (IHPMR) [MIM:616816]: An autosomal recessive disorder characterized by congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects. {ECO:0000269|PubMed:26358778}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probably involved in neuronal development. {ECO:0000269|PubMed:26358778}.
uniprot
proteins
mass_dalton
53958
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26358778
uniprot
proteins
sequence_length
467
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26358778}. Note=In the nucleus of neuroblastoma cells, it colocalizes with EIF4A3, a component of exon junction complex. {ECO:0000269|PubMed:26358778}.
uniprot
proteins