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Protein

Motor neuron and pancreas homeobox protein 1

Gene

MNX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000130675.14
HGNCiHGNC:4979 MNX1
MIMi142994 gene
neXtProtiNX_P50219

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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:rs121912548EnsemblClinVar.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 syndrome
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

EPDiP50219
MaxQBiP50219
PaxDbiP50219
PeptideAtlasiP50219
PRIDEiP50219
ProteomicsDBi56203

PTM databases

iPTMnetiP50219
PhosphoSitePlusiP50219

Expressioni

Tissue specificityi

Expressed in lymphoid and pancreatic tissues.

Gene expression databases

BgeeiENSG00000130675 Expressed in 84 organ(s), highest expression level in body of pancreas
CleanExiHS_MNX1
ExpressionAtlasiP50219 baseline and differential
GenevisibleiP50219 HS

Organism-specific databases

HPAiHPA071717

Interactioni

Protein-protein interaction databases

BioGridi109355, 2 interactors
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
GeneTreeiENSGT00910000144024
HOGENOMiHOG000234345
HOVERGENiHBG051910
InParanoidiP50219
KOiK08025
OrthoDBiEOG091G0PFO
PhylomeDBiP50219
TreeFamiTF351530

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
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

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9K088C9K088_HUMAN
Motor neuron and pancreas homeobox ...
MNX1
82Annotation score:
S4R464S4R464_HUMAN
Motor neuron and pancreas homeobox ...
MNX1
36Annotation score:
C9JFT4C9JFT4_HUMAN
Motor neuron and pancreas homeobox ...
MNX1
29Annotation score:
S4R3G1S4R3G1_HUMAN
Motor neuron and pancreas homeobox ...
MNX1
31Annotation score:
S4R364S4R364_HUMAN
Motor neuron and pancreas homeobox ...
MNX1
143Annotation score:

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:rs121912548EnsemblClinVar.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

Similar proteinsi

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, 2 interactors
STRINGi9606.ENSP00000252971

PTM databases

iPTMnetiP50219
PhosphoSitePlusiP50219

Polymorphism and mutation databases

BioMutaiMNX1
DMDMi259016336

Proteomic databases

EPDiP50219
MaxQBiP50219
PaxDbiP50219
PeptideAtlasiP50219
PRIDEiP50219
ProteomicsDBi56203

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
EuPathDBiHostDB:ENSG00000130675.14
GeneCardsiMNX1
H-InvDBiHIX0033536
HGNCiHGNC:4979 MNX1
HPAiHPA071717
MalaCardsiMNX1
MIMi142994 gene
176450 phenotype
neXtProtiNX_P50219
OpenTargetsiENSG00000130675
Orphaneti1552 Currarino syndrome
PharmGKBiPA162396041
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0489 Eukaryota
ENOG410ZTBY LUCA
GeneTreeiENSGT00910000144024
HOGENOMiHOG000234345
HOVERGENiHBG051910
InParanoidiP50219
KOiK08025
OrthoDBiEOG091G0PFO
PhylomeDBiP50219
TreeFamiTF351530

Enzyme and pathway databases

SIGNORiP50219

Miscellaneous databases

GeneWikiiMNX1
GenomeRNAii3110
PROiPR:P50219
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130675 Expressed in 84 organ(s), highest expression level in body of pancreas
CleanExiHS_MNX1
ExpressionAtlasiP50219 baseline and differential
GenevisibleiP50219 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
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: November 7, 2018
This is version 158 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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