MLXIPL
entrez
51085
canonical
uniprot
Q9NP71
canonical
ensembl
ENSG00000009950
resolver
ensp
ENSP00000320886
resolver
ensp
ENSP00000346629
resolver
ensp
ENSP00000406296
resolver
ensp
ENSP00000412330
resolver
ensp
ENSP00000525699
resolver
ensp
ENSP00000525701
resolver
ensp
ENSP00000525703
resolver
ensp
ENSP00000525708
resolver
genesymbol
MLXIPL
resolver
genesymbol_syn
BHLHD14
resolver
genesymbol_syn
MIO
resolver
genesymbol_syn
WBSCR14
resolver
hgnc
HGNC:12744
resolver
uniprot
C5HU02
resolver
uniprot
C5HU03
resolver
uniprot
C5HU04
resolver
uniprot
Q96E48
resolver
uniprot
Q9BY03
resolver
uniprot
Q9BY04
resolver
uniprot
Q9BY05
resolver
uniprot
Q9BY06
resolver
uniprot
Q9Y2P3
resolver
uniprot_entry
MLXPL_HUMAN
resolver
uniprot_sec
C5HU02
resolver
uniprot_sec
C5HU03
resolver
uniprot_sec
C5HU04
resolver
uniprot_sec
Q96E48
resolver
uniprot_sec
Q9BY03
resolver
uniprot_sec
Q9BY04
resolver
uniprot_sec
Q9BY05
resolver
uniprot_sec
Q9BY06
resolver
uniprot_sec
Q9Y2P3
resolver
amino_acid_sequence
MAGALAGLAAGLQVPRVAPSPDSDSDTDSEDPSLRRSAGGLLRSQVIHSGHFMVSSPHSDSLPRRRDQEGSVGPSDFGPRSIDPTLTRLFECLSLAYSGKLVSPKWKNFKGLKLLCRDKIRLNNAIWRAWYIQYVKRRKSPVCGFVTPLQGPEADAHRKPEAVVLEGNYWKRRIEVVMREYHKWRIYYKKRLRKPSREDDLLAPKQAEGRWPPPEQWCKQLFSSVVPVLLGDPEEEPGGRQLLDLNCFLSDISDTLFTMTQSGPSPLQLPPEDAYVGNADMIQPDLTPLQPSLDDFMDISDFFTNSRLPQPPMPSNFPEPPSFSPVVDSLFSSGTLGPEVPPASSAMTHLSGHSRLQARNSCPGPLDSSAFLSSDFLLPEDPKPRLPPPPVPPPLLHYPPPAKVPGLEPCPPPPFPPMAPPTALLQEEPLFSPRFPFPTVPPAPGVSPLPAPAAFPPTPQSVPSPAPTPFPIELLPLGYSEPAFGPCFSMPRGKPPAPSPRGQKASPPTLAPATASPPTTAGSNNPCLTQLLTAAKPEQALEPPLVSSTLLRSPGSPQETVPEFPCTFLPPTPAPTPPRPPPGPATLAPSRPLLVPKAERLSPPAPSGSERRLSGDLSSMPGPGTLSVRVSPPQPILSRGRPDSNKTENRRITHISAEQKRRFNIKLGFDTLHGLVSTLSAQPSLKVSKATTLQKTAEYILMLQQERAGLQEEAQQLRDEIEELNAAINLCQQQLPATGVPITHQRFDQMRDMFDDYVRTRTLHNWKFWVFSILIRPLFESFNGMVSTASVHTLRQTSLAWLDQYCSLPALRPTVLNSLRQLGTSTSILTDPGRIPEQATRAVTEGTLGKPL
uniprot
proteins
disease_involvement
DISEASE: Note=WBSCR14 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000269|PubMed:10780788}.
uniprot
proteins
function
FUNCTION: Glucose-responsive transcription activator that regulates fatty acid synthesis and glycolysis. Key determinant of systemic insulin sensitivity and glucose homeostasis. Important for the expression of fatty acid synthetic enzymes, including PC/Pcx, APOC4/Acl, ACACA/Acc1 and FASN/Fas (By similarity). Important for glucose-induced expression of L-type pyruvate kinase/PKLR (By similarity). Binds to the canonical and non-canonical E box DNA sequences 5'-CACGTG-3' and 5'-CACGCG-3' (By similarity). May also act as a transcriptional repressor (By similarity). {ECO:0000250|UniProtKB:Q8VIP2, ECO:0000250|UniProtKB:Q99MZ3}.
uniprot
proteins
mass_dalton
93073
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity. {ECO:0000250|UniProtKB:Q8VIP2}.
uniprot
proteins
pubmed
10780788
uniprot
proteins
pubmed
11230181
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22466288
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
9860302
uniprot
proteins
sequence_length
852
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8VIP2}. Nucleus {ECO:0000250|UniProtKB:Q8VIP2}. Note=Localizes mainly in the cytoplasm of hepatocytes under low glucose and migrates into the nucleus under high glucose. {ECO:0000250|UniProtKB:Q8VIP2}.
uniprot
proteins