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MNX1 motor neuron and pancreas homeobox 1 [ Homo sapiens (human) ]

Gene ID: 3110, updated on 11-Sep-2014
Official Symbol
MNX1provided by HGNC
Official Full Name
motor neuron and pancreas homeobox 1provided by HGNC
Primary source
HGNC:HGNC:4979
See related
Ensembl:ENSG00000130675; HPRD:00874; MIM:142994; Vega:OTTHUMG00000157181
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HB9; HLXB9; SCRA1; HOXHB9
Summary
This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
See MNX1 in Epigenomics, MapViewer
Location:
7q36
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (157004853..157010653, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (156797547..156803347, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723795 Neighboring gene nucleolar protein with MIF4G domain 1 Neighboring gene MNX1 antisense RNA 1 (head to head) Neighboring gene adenosylmethionine decarboxylase 1 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Currarino triad
MedGen: C1531773 OMIM: 176450 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-10-04)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-10-04)

ISCA Genome Curation PagePubMed
  • Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
    Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
  • Maturity onset diabetes of the young, conserved biosystem (from KEGG)
    Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
diaphragm development IEA
Inferred from Electronic Annotation
more info
 
dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
endocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
humoral immune response TAS
Traceable Author Statement
more info
PubMed 
motor neuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
nerve development IEA
Inferred from Electronic Annotation
more info
 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
spinal cord motor neuron cell fate specification IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
motor neuron and pancreas homeobox protein 1
Names
motor neuron and pancreas homeobox protein 1
homeobox HB9
homeobox protein HB9

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013212.1 

    Range
    5001..10801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165255.1NP_001158727.1  motor neuron and pancreas homeobox protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus, as compared to isoform 1.
    Source sequence(s)
    AF107457, AY927460
    Consensus CDS
    CCDS55187.1
    UniProtKB/Swiss-Prot
    P50219
    Related
    ENSP00000438552, ENST00000543409
    Conserved Domains (1) summary
    cd00086
    Location:3088
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  2. NM_005515.3NP_005506.3  motor neuron and pancreas homeobox protein 1 isoform 1

    See proteins identical to NP_005506.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC006357, AF107457
    Consensus CDS
    CCDS34788.1
    UniProtKB/Swiss-Prot
    P50219
    Related
    ENSP00000252971, OTTHUMP00000211645, ENST00000252971, OTTHUMT00000347796
    Conserved Domains (1) summary
    cd00086
    Location:242300
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    157004853..157010653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715957.1XP_006716020.1  

    Conserved Domains (1) summary
    cd00086
    Location:207265
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    150530222..150535994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    156806166..156811852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)