Homo sapiens Protein: MNX1
Summary
InnateDB Protein IDBP-50745.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MNX1
Protein Name motor neuron and pancreas homeobox 1
Synonyms HB9; HLXB9; HOXHB9; SCRA1;
Species Homo sapiens
Ensembl Protein ENSP00000252971
InnateDB Gene IDBG-50743 (MNX1)
Protein Structure
UniProt Annotation
Function Putative transcription factor involved in pancreas development and function.
Subcellular Localization Nucleus.
Disease Associations 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:0000269PubMed:10631160, ECO:0000269PubMed:10749657, ECO:0000269PubMed:19853743, ECO:0000269PubMed:22820079}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in lymphoid and pancreatic tissues.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0001764 neuron migration
GO:0006351 transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006959 humoral immune response
GO:0008045 motor neuron axon guidance
GO:0009653 anatomical structure morphogenesis
GO:0009791 post-embryonic development
GO:0021520 spinal cord motor neuron cell fate specification
GO:0021675 nerve development
GO:0021904 dorsal/ventral neural tube patterning
GO:0021953 central nervous system neuron differentiation
GO:0030182 neuron differentiation
GO:0031016 pancreas development
GO:0031018 endocrine pancreas development
GO:0048667 cell morphogenesis involved in neuron differentiation
GO:0048812 neuron projection morphogenesis
GO:0060539 diaphragm development
GO:0060541 respiratory system development
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR001356 Homeobox domain
IPR009057 Homeodomain-like
IPR020479 Homeodomain, metazoa
PFAM PF00046
PRINTS PR00024
PIRSF
SMART SM00389
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P50219
PhosphoSite PhosphoSite-P50219
TrEMBL
UniProt Splice Variant
Entrez Gene 3110
UniGene Hs.37035
RefSeq NP_005506
HUGO HGNC:4979
OMIM 142994
CCDS CCDS34788
HPRD 00874
IMGT
EMBL AC006357 AH007909 U07663 U07664
GenPept AAB60647 AAD41467