MNX1
entrez
3110
canonical
uniprot
P50219
canonical
ensembl
ENSG00000130675
resolver
ensp
ENSP00000252971
resolver
ensp
ENSP00000438552
resolver
genesymbol
MNX1
resolver
genesymbol_syn
HLXB9
resolver
hgnc
HGNC:4979
resolver
uniprot
F5H401
resolver
uniprot
Q9Y648
resolver
uniprot_entry
MNX1_HUMAN
resolver
uniprot_sec
F5H401
resolver
uniprot_sec
Q9Y648
resolver
amino_acid_sequence
MEKSKNFRIDALLAVDPPRAASAQSAPLALVTSLAAAASGTGGGGGGGGASGGTSGSCSPASSEPPAAPADRLRAESPSPPRLLAAHCALLPKPGFLGAGGGGGGTGGGHGGPHHHAHPGAAAAAAAAAAAAAAGGLALGLHPGGAQGGAGLPAQAALYGHPVYGYSAAAAAAALAGQHPALSYSYPQVQGAHPAHPADPIKLGAGTFQLDQWLRASTAGMILPKMPDFNSQAQSNLLGKCRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTETQVKIWFQNRRMKWKRSKKAKEQAAQEAEKQKGGGGGAGKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDEDEDDEDHFPYSNGASVHAASSDCSSEDDSPPPRPSHQPAPQ
uniprot
proteins
disease_involvement
DISEASE: Currarino syndrome (CURRAS) [MIM:176450]: The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait. {ECO:0000269|PubMed:10631160, ECO:0000269|PubMed:10749657, ECO:0000269|PubMed:19853743, ECO:0000269|PubMed:22820079}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor (By similarity). Recognizes and binds to the regulatory elements of target genes, such as visual system homeobox CHX10, negatively modulating transcription (By similarity). Plays a role in establishing motor neuron identity, in concert with LIM domain transcription factor LMO4 (By similarity). Involved in negatively modulating transcription of interneuron genes in motor neurons, acting, at least in part, by blocking regulatory sequence interactions of the ISL1-LHX3 complex (By similarity). Involved in pancreas development and function; may play a role in pancreatic cell fate specification (By similarity). {ECO:0000250|UniProtKB:Q9QZW9}.
uniprot
proteins
mass_dalton
40569
uniprot
proteins
pubmed
10329000
uniprot
proteins
pubmed
10631160
uniprot
proteins
pubmed
10749657
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19853743
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22820079
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
7914194
uniprot
proteins
sequence_length
401
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins