KIF12
entrez
113220
canonical
uniprot
Q96FN5
canonical
ensembl
ENSG00000136883
resolver
ensp
ENSP00000491702
resolver
enst
ENST00000640217
resolver
genesymbol
KIF12
resolver
hgnc
HGNC:21495
resolver
uniprot
A0A1W2PPS5
resolver
uniprot
Q5TBE0
resolver
uniprot_entry
KIF12_HUMAN
resolver
uniprot_sec
A0A1W2PPS5
resolver
uniprot_sec
Q5TBE0
resolver
amino_acid_sequence
MEERGSPDGDLARSLEQGPEGPETPIQVVLRVRPMSAAELRRGQQSVLHCSGTRTLQVSPPGGGPEVAFRFGAVLDAARTQEDVFRACGVRRLGELALRGFSCTVFTFGQTGSGKTYTLTGPPPQGEGVPVPPSLAGIMQRTFAWLLDRVQHLGAPVTLRASYLEIYNEQVRDLLSLGSPRPLPVRWNKTRGFYVEQLRVVEFGSLEALMELLQTGLSRRRNSAHTLNQASSRSHALLTLYISRQTAQQMPSVDPGEPPVGGKLCFVDLAGSEKVAATGSRGELMLEANSINRSLLALGHCISLLLDPQRKQSHIPFRDSKLTKLLADSLGGRGVTLMVACVSPSAQCLPETLSTLRYASRAQRVTTRPQAPKSPVAKQPQRLETEMLQLQEENRRLQFQLDQMDCKASGLSGARVAWAQRNLYGMLQEFMLENERLRKEKSQLQNSRDLAQNEQRILAQQVHALERRLLSACYHHQQGPGLTPPCPCLMAPAPPCHALPPLYSCPCCHICPLCRVPLAHWACLPGEHHLPQVLDPEASGGRPPSARPPPWAPPCSPGSAKCPRERSHSDWTQTRVLAEMLTEEEVVPSAPPLPVRPPKTSPGLRGGAGVPNLAQRLEALRDQIGSSLRRGRSQPPCSEGARSPGQVLPPH
uniprot
proteins
disease_involvement
DISEASE: Cholestasis, progressive familial intrahepatic, 8 (PFIC8) [MIM:619662]: An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC8 onset is in early infancy. {ECO:0000269|PubMed:30250217, ECO:0000269|PubMed:30976738, ECO:0000269|PubMed:34555379, ECO:0000269|PubMed:37919484}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the negative regulation of fatty acid biosynthesis, probably acting as an adapter that allows ubiquitination of acetyl-CoA carboxylase 1 (ACACA) by E3 ubiquitin-protein ligase COP1, and promotes ACACA degradation (PubMed:39920308). The adapter function requires the C-terminal proline-rich domain and may be apart from the kinesin motor activity (Probable). {ECO:0000269|PubMed:39920308, ECO:0000305|PubMed:39920308}.
uniprot
proteins
mass_dalton
71098
uniprot
proteins
protein_family
Kinesin family
uniprot
proteins
protein_family
TRAFAC class myosin-kinesin ATPase superfamily
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15643526
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30250217
uniprot
proteins
pubmed
30976738
uniprot
proteins
pubmed
34555379
uniprot
proteins
pubmed
37919484
uniprot
proteins
pubmed
39920308
uniprot
proteins
sequence_length
651
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Cell projection, cilium {ECO:0000250|UniProtKB:Q9D2Z8}.
uniprot
proteins