Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - P50219 (MNX1_HUMAN)

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Motor neuron and pancreas homeobox protein 1

Gene

MNX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Putative transcription factor involved in pancreas development and function.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi241 – 300HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • sequence-specific DNA binding Source: InterPro
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc
Complete GO annotation...

GO - Biological processi

  • anatomical structure morphogenesis Source: ProtInc
  • endocrine pancreas development Source: GO_Central
  • humoral immune response Source: ProtInc
  • neuron projection morphogenesis Source: GO_Central
  • regulation of transcription from RNA polymerase II promoter Source: ProtInc
  • spinal cord motor neuron cell fate specification Source: GO_Central
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiP50219.

Names & Taxonomyi

Protein namesi
Recommended name:
Motor neuron and pancreas homeobox protein 1
Alternative name(s):
Homeobox protein HB9
Gene namesi
Name:MNX1
Synonyms:HLXB9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:4979. MNX1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Currarino syndrome (CURRAS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe 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.
See also OMIM:176450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068473243R → W in CURRAS. 1 Publication1
Natural variantiVAR_017874245R → G in CURRAS. 1 Publication1
Natural variantiVAR_017875245R → H in CURRAS. 1 Publication1
Natural variantiVAR_017876246T → S in CURRAS. 1 PublicationCorresponds to variant dbSNP:rs121912548Ensembl.1
Natural variantiVAR_017877288W → G in CURRAS. 2 Publications1
Natural variantiVAR_017878288W → L in CURRAS. 1 Publication1
Natural variantiVAR_068474289F → S in CURRAS. 1 Publication1
Natural variantiVAR_017879290Q → P in CURRAS. 1 Publication1
Natural variantiVAR_017880292R → W in CURRAS. 1 Publication1
Natural variantiVAR_017881293R → Q in CURRAS. 1 Publication1
Natural variantiVAR_017882293R → W in CURRAS. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3110.
MalaCardsiMNX1.
MIMi176450. phenotype.
OpenTargetsiENSG00000130675.
Orphaneti1552. Currarino triad.
PharmGKBiPA162396041.

Polymorphism and mutation databases

BioMutaiMNX1.
DMDMi259016336.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000489051 – 401Motor neuron and pancreas homeobox protein 1Add BLAST401

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei77PhosphoserineCombined sources1
Modified residuei79PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP50219.
PaxDbiP50219.
PeptideAtlasiP50219.
PRIDEiP50219.

PTM databases

iPTMnetiP50219.
PhosphoSitePlusiP50219.

Expressioni

Tissue specificityi

Expressed in lymphoid and pancreatic tissues.

Gene expression databases

BgeeiENSG00000130675.
CleanExiHS_MNX1.
ExpressionAtlasiP50219. baseline and differential.
GenevisibleiP50219. HS.

Organism-specific databases

HPAiHPA071717.

Interactioni

Protein-protein interaction databases

BioGridi109355. 1 interactor.
STRINGi9606.ENSP00000252971.

Structurei

3D structure databases

ProteinModelPortaliP50219.
SMRiP50219.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi35 – 38Poly-Ala4
Compositional biasi40 – 49Poly-Gly10
Compositional biasi98 – 112Poly-GlyAdd BLAST15
Compositional biasi121 – 134Poly-AlaAdd BLAST14
Compositional biasi168 – 176Poly-Ala9
Compositional biasi315 – 324Poly-Gly10

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0489. Eukaryota.
ENOG410ZTBY. LUCA.
GeneTreeiENSGT00880000137844.
HOGENOMiHOG000234345.
HOVERGENiHBG051910.
InParanoidiP50219.
KOiK08025.
OrthoDBiEOG091G0PFO.
PhylomeDBiP50219.
TreeFamiTF351530.

Family and domain databases

InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PRINTSiPR00024. HOMEOBOX.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P50219-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEKSKNFRID ALLAVDPPRA ASAQSAPLAL VTSLAAAASG TGGGGGGGGA 
        60         70         80         90        100
SGGTSGSCSP ASSEPPAAPA DRLRAESPSP PRLLAAHCAL LPKPGFLGAG 
       110        120        130        140        150
GGGGGTGGGH GGPHHHAHPG AAAAAAAAAA AAAAGGLALG LHPGGAQGGA 
       160        170        180        190        200
GLPAQAALYG HPVYGYSAAA AAAALAGQHP ALSYSYPQVQ GAHPAHPADP 
       210        220        230        240        250
IKLGAGTFQL DQWLRASTAG MILPKMPDFN SQAQSNLLGK CRRPRTAFTS 
       260        270        280        290        300
QQLLELEHQF KLNKYLSRPK RFEVATSLML TETQVKIWFQ NRRMKWKRSK 
       310        320        330        340        350
KAKEQAAQEA EKQKGGGGGA GKGGAEEPGA EELLGPPAPG DKGSGRRLRD 
       360        370        380        390        400
LRDSDPEEDE DEDDEDHFPY SNGASVHAAS SDCSSEDDSP PPRPSHQPAP 

Q
Length:401
Mass (Da):40,569
Last modified:September 22, 2009 - v3
Checksum:i67527C8F789DFFDB
GO
Isoform 2 (identifier: P50219-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-212: Missing.
     213-231: WLRASTAGMILPKMPDFNS → MGGLSTVGACPGILGAQQA

Note: Gene prediction based on EST data.
Show »
Length:189
Mass (Da):20,553
Checksum:iF227EEDC4874B856
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti10 – 37DALLA…SLAAA → EPCWRWTPHEPPLAERALAK VTSPPVP in AAB60647 (PubMed:7914194).CuratedAdd BLAST28
Sequence conflicti121A → AAA in AAB60647 (PubMed:7914194).Curated1
Sequence conflicti121A → ARA in AAD41467 (PubMed:10329000).Curated1
Sequence conflicti262L → F in AAB60647 (PubMed:7914194).Curated1
Sequence conflicti340G → R in AAB60647 (PubMed:7914194).Curated1
Sequence conflicti346 – 349RRLR → PPA in AAB60647 (PubMed:7914194).Curated4

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068473243R → W in CURRAS. 1 Publication1
Natural variantiVAR_017874245R → G in CURRAS. 1 Publication1
Natural variantiVAR_017875245R → H in CURRAS. 1 Publication1
Natural variantiVAR_017876246T → S in CURRAS. 1 PublicationCorresponds to variant dbSNP:rs121912548Ensembl.1
Natural variantiVAR_017877288W → G in CURRAS. 2 Publications1
Natural variantiVAR_017878288W → L in CURRAS. 1 Publication1
Natural variantiVAR_068474289F → S in CURRAS. 1 Publication1
Natural variantiVAR_017879290Q → P in CURRAS. 1 Publication1
Natural variantiVAR_017880292R → W in CURRAS. 1 Publication1
Natural variantiVAR_017881293R → Q in CURRAS. 1 Publication1
Natural variantiVAR_017882293R → W in CURRAS. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0467731 – 212Missing in isoform 2. CuratedAdd BLAST212
Alternative sequenceiVSP_046774213 – 231WLRAS…PDFNS → MGGLSTVGACPGILGAQQA in isoform 2. CuratedAdd BLAST19

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U07664, U07663 Genomic DNA. Translation: AAB60647.1.
AC006357 Genomic DNA. No translation available.
AH007909 Genomic DNA. Translation: AAD41467.1.
CCDSiCCDS34788.1. [P50219-1]
CCDS55187.1. [P50219-2]
RefSeqiNP_001158727.1. NM_001165255.1. [P50219-2]
NP_005506.3. NM_005515.3. [P50219-1]
UniGeneiHs.37035.

Genome annotation databases

EnsembliENST00000252971; ENSP00000252971; ENSG00000130675. [P50219-1]
ENST00000543409; ENSP00000438552; ENSG00000130675. [P50219-2]
GeneIDi3110.
KEGGihsa:3110.
UCSCiuc003wnc.1. human. [P50219-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U07664, U07663 Genomic DNA. Translation: AAB60647.1.
AC006357 Genomic DNA. No translation available.
AH007909 Genomic DNA. Translation: AAD41467.1.
CCDSiCCDS34788.1. [P50219-1]
CCDS55187.1. [P50219-2]
RefSeqiNP_001158727.1. NM_001165255.1. [P50219-2]
NP_005506.3. NM_005515.3. [P50219-1]
UniGeneiHs.37035.

3D structure databases

ProteinModelPortaliP50219.
SMRiP50219.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109355. 1 interactor.
STRINGi9606.ENSP00000252971.

PTM databases

iPTMnetiP50219.
PhosphoSitePlusiP50219.

Polymorphism and mutation databases

BioMutaiMNX1.
DMDMi259016336.

Proteomic databases

MaxQBiP50219.
PaxDbiP50219.
PeptideAtlasiP50219.
PRIDEiP50219.

Protocols and materials databases

DNASUi3110.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252971; ENSP00000252971; ENSG00000130675. [P50219-1]
ENST00000543409; ENSP00000438552; ENSG00000130675. [P50219-2]
GeneIDi3110.
KEGGihsa:3110.
UCSCiuc003wnc.1. human. [P50219-1]

Organism-specific databases

CTDi3110.
DisGeNETi3110.
GeneCardsiMNX1.
H-InvDBiHIX0033536.
HGNCiHGNC:4979. MNX1.
HPAiHPA071717.
MalaCardsiMNX1.
MIMi142994. gene.
176450. phenotype.
neXtProtiNX_P50219.
OpenTargetsiENSG00000130675.
Orphaneti1552. Currarino triad.
PharmGKBiPA162396041.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0489. Eukaryota.
ENOG410ZTBY. LUCA.
GeneTreeiENSGT00880000137844.
HOGENOMiHOG000234345.
HOVERGENiHBG051910.
InParanoidiP50219.
KOiK08025.
OrthoDBiEOG091G0PFO.
PhylomeDBiP50219.
TreeFamiTF351530.

Enzyme and pathway databases

SIGNORiP50219.

Miscellaneous databases

GeneWikiiMNX1.
GenomeRNAii3110.
PROiPR:P50219.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130675.
CleanExiHS_MNX1.
ExpressionAtlasiP50219. baseline and differential.
GenevisibleiP50219. HS.

Family and domain databases

InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PRINTSiPR00024. HOMEOBOX.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiMNX1_HUMAN
AccessioniPrimary (citable) accession number: P50219
Secondary accession number(s): F5H401, Q9Y648
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: September 22, 2009
Last modified: June 7, 2017
This is version 148 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.