MNX1

Protein identityUniProt · HPA

UniProt accession

P50219

Gene

MNX1

Ensembl

ENSG00000130675

Chromosome

7

Canonical length

401 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nucleoli,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

401 residues, UniProt reviewed canonical sequence.

>P50219|MNX1
     1  MEKSKNFRID ALLAVDPPRA ASAQSAPLAL VTSLAAAASG TGGGGGGGGA SGGTSGSCSP
    61  ASSEPPAAPA DRLRAESPSP PRLLAAHCAL LPKPGFLGAG GGGGGTGGGH GGPHHHAHPG
   121  AAAAAAAAAA AAAAGGLALG LHPGGAQGGA GLPAQAALYG HPVYGYSAAA AAAALAGQHP
   181  ALSYSYPQVQ GAHPAHPADP IKLGAGTFQL DQWLRASTAG MILPKMPDFN SQAQSNLLGK
   241  CRRPRTAFTS QQLLELEHQF KLNKYLSRPK RFEVATSLML TETQVKIWFQ NRRMKWKRSK
   301  KAKEQAAQEA EKQKGGGGGA GKGGAEEPGA EELLGPPAPG DKGSGRRLRD LRDSDPEEDE
   361  DEDDEDHFPY SNGASVHAAS SDCSSEDDSP PPRPSHQPAP Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MNX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.68

Highest tissue expression

15 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MNX1.

Disease | AllUniProt

Conditions MNX1 is implicated in, by any mechanism.

• Currarino syndrome (CURRAS) MIM:176450

Disease | GeneticClinVar

51 pathogenic / likely-pathogenic of 497 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Currarino triad
• MNX1-related disorder
• Inborn genetic diseases
• Abnormality of the vertebral column

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.5

gnomAD pLI

0.79

gnomAD missense Z

0.73

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• central nervous system development
• endocrine pancreas development
• neuron projection morphogenesis
• spinal cord motor neuron cell fate specification

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• cytosol
• nucleolus
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeodomain, metazoa
• Homeodomain
• Homeobox protein MNX1/Ceh-12

KeywordsUniProt

• Acetylation
• DNA-binding
• Homeobox
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation