FAM177A1
entrez
283635
canonical
uniprot
Q8N128
canonical
ensembl
ENSG00000151327
resolver
ensp
ENSP00000280987
resolver
ensp
ENSP00000371843
resolver
ensp
ENSP00000451508
resolver
genesymbol
FAM177A1
resolver
genesymbol_syn
C14orf24
resolver
hgnc
HGNC:19829
resolver
uniprot
Q68CT2
resolver
uniprot_entry
F177A_HUMAN
resolver
uniprot_sec
Q68CT2
resolver
amino_acid_sequence
MDQEPVGGVERGEAVAASGAAAAAAFGESAGQMSNERGFENVELGVIGKKKKVPRRVIHFVSGETMEEYSTDEDEVDGLEKKDVLPTVDPTKLTWGPYLWFYMLRAATSTLSVCDFLGEKIASVLGISTPKYQYAIDEYYRMKKEEEEEEEENRMSEEAEKQYQQNKLQTDSIVQTDQPETVISSSFVNVNFEMEGDSEVIMESKQNPVSVPP
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with white matter abnormalities and gait disturbance (NEDWMG) [MIM:621152]: An autosomal recessive disorder characterized by macrocephaly, global developmental delay, intellectual disability, seizures, behavioral abnormalities, hypotonia, and gait disturbance. {ECO:0000269|PubMed:25558065, ECO:0000269|PubMed:38767059}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May act as a negative regulator of the IL-1beta immunogenic cascade. {ECO:0000269|PubMed:34799425}.
uniprot
proteins
mass_dalton
23757
uniprot
proteins
protein_family
FAM177 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25558065
uniprot
proteins
pubmed
34799425
uniprot
proteins
pubmed
38767059
uniprot
proteins
pubmed
39331042
uniprot
proteins
sequence_length
213
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:38767059, ECO:0000269|PubMed:39331042}. Note=ColocalizeS with VPS13B in the Golgi complex. {ECO:0000269|PubMed:39331042}.
uniprot
proteins