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

Gene ID: 3110, updated on 15-Apr-2019

Summary

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 MIM:142994
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]
Expression
Biased expression in colon (RPKM 3.3), small intestine (RPKM 2.3) and 7 other tissues See more
Orthologs

Genomic context

See MNX1 in Genome Data Viewer
Location:
7q36.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 LOC105375605 Neighboring gene nucleolar protein with MIF4G domain 1 Neighboring gene MNX1 antisense RNA 2 Neighboring gene MNX1 antisense RNA 1 (head to head) Neighboring gene adenosylmethionine decarboxylase 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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)

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
endocrine pancreas development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
humoral immune response TAS
Traceable Author Statement
more info
PubMed 
neuron projection morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
spinal cord motor neuron cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
motor neuron and pancreas homeobox protein 1
Names
homeobox HB9
homeobox protein HB9

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    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
    ENSP00000438552.1, ENST00000543409.5
    Conserved Domains (1) summary
    pfam00046
    Location:3285
    Homeobox; Homeobox domain
  2. NM_005515.4NP_005506.3  motor neuron and pancreas homeobox protein 1 isoform 1

    See identical proteins and their annotated locations for 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
    ENSP00000252971.5, ENST00000252971.11
    Conserved Domains (1) summary
    pfam00046
    Location:244297
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

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