UniProtKB - P50219 (MNX1_HUMAN)
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Protein
Motor neuron and pancreas homeobox protein 1
Gene
MNX1
Organism
Homo sapiens (Human)
Status
Functioni
Putative transcription factor involved in pancreas development and function.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 241 – 300 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA binding transcription factor activity Source: ProtInc
- RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
- sequence-specific DNA binding Source: InterPro
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 by RNA polymerase II Source: ProtInc
- spinal cord motor neuron cell fate specification Source: GO_Central
- transcription, DNA-templated Source: UniProtKB-KW
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
SIGNORi | P50219. |
Names & Taxonomyi
Protein namesi | Recommended name: Motor neuron and pancreas homeobox protein 1Alternative name(s): Homeobox protein HB9 |
Gene namesi | Name:MNX1 Synonyms:HLXB9 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000130675.14. |
HGNCi | HGNC:4979. MNX1. |
MIMi | 142994. gene. |
neXtProti | NX_P50219. |
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:176450Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068473 | 243 | R → W in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017874 | 245 | R → G in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017875 | 245 | R → H in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017876 | 246 | T → S in CURRAS. 1 PublicationCorresponds to variant dbSNP:rs121912548Ensembl. | 1 | |
Natural variantiVAR_017877 | 288 | W → G in CURRAS. 2 Publications | 1 | |
Natural variantiVAR_017878 | 288 | W → L in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_068474 | 289 | F → S in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017879 | 290 | Q → P in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017880 | 292 | R → W in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017881 | 293 | R → Q in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017882 | 293 | R → W in CURRAS. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 3110. |
MalaCardsi | MNX1. |
MIMi | 176450. phenotype. |
OpenTargetsi | ENSG00000130675. |
Orphaneti | 1552. Currarino triad. |
PharmGKBi | PA162396041. |
Polymorphism and mutation databases
BioMutai | MNX1. |
DMDMi | 259016336. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048905 | 1 – 401 | Motor neuron and pancreas homeobox protein 1Add BLAST | 401 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 77 | PhosphoserineCombined sources | 1 | |
Modified residuei | 79 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P50219. |
MaxQBi | P50219. |
PaxDbi | P50219. |
PeptideAtlasi | P50219. |
PRIDEi | P50219. |
PTM databases
iPTMneti | P50219. |
PhosphoSitePlusi | P50219. |
Expressioni
Tissue specificityi
Expressed in lymphoid and pancreatic tissues.
Gene expression databases
Bgeei | ENSG00000130675. |
CleanExi | HS_MNX1. |
ExpressionAtlasi | P50219. baseline and differential. |
Genevisiblei | P50219. HS. |
Organism-specific databases
HPAi | HPA071717. |
Interactioni
Protein-protein interaction databases
BioGridi | 109355. 2 interactors. |
STRINGi | 9606.ENSP00000252971. |
Structurei
3D structure databases
ProteinModelPortali | P50219. |
SMRi | P50219. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 35 – 38 | Poly-Ala | 4 | |
Compositional biasi | 40 – 49 | Poly-Gly | 10 | |
Compositional biasi | 98 – 112 | Poly-GlyAdd BLAST | 15 | |
Compositional biasi | 121 – 134 | Poly-AlaAdd BLAST | 14 | |
Compositional biasi | 168 – 176 | Poly-Ala | 9 | |
Compositional biasi | 315 – 324 | Poly-Gly | 10 |
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0489. Eukaryota. ENOG410ZTBY. LUCA. |
GeneTreei | ENSGT00910000144024. |
HOGENOMi | HOG000234345. |
HOVERGENi | HBG051910. |
InParanoidi | P50219. |
KOi | K08025. |
OrthoDBi | EOG091G0PFO. |
PhylomeDBi | P50219. |
TreeFami | TF351530. |
Family and domain databases
CDDi | cd00086. homeodomain. 1 hit. |
InterProi | View protein in InterPro IPR009057. Homeobox-like_sf. IPR017970. Homeobox_CS. IPR001356. Homeobox_dom. IPR020479. Homeobox_metazoa. |
Pfami | View protein in Pfam PF00046. Homeobox. 1 hit. |
PRINTSi | PR00024. HOMEOBOX. |
SMARTi | View protein in SMART SM00389. HOX. 1 hit. |
SUPFAMi | SSF46689. SSF46689. 1 hit. |
PROSITEi | View protein in PROSITE PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative 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.
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 10 – 37 | DALLA…SLAAA → EPCWRWTPHEPPLAERALAK VTSPPVP in AAB60647 (PubMed:7914194).CuratedAdd BLAST | 28 | |
Sequence conflicti | 121 | A → AAA in AAB60647 (PubMed:7914194).Curated | 1 | |
Sequence conflicti | 121 | A → ARA in AAD41467 (PubMed:10329000).Curated | 1 | |
Sequence conflicti | 262 | L → F in AAB60647 (PubMed:7914194).Curated | 1 | |
Sequence conflicti | 340 | G → R in AAB60647 (PubMed:7914194).Curated | 1 | |
Sequence conflicti | 346 – 349 | RRLR → PPA in AAB60647 (PubMed:7914194).Curated | 4 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068473 | 243 | R → W in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017874 | 245 | R → G in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017875 | 245 | R → H in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017876 | 246 | T → S in CURRAS. 1 PublicationCorresponds to variant dbSNP:rs121912548Ensembl. | 1 | |
Natural variantiVAR_017877 | 288 | W → G in CURRAS. 2 Publications | 1 | |
Natural variantiVAR_017878 | 288 | W → L in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_068474 | 289 | F → S in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017879 | 290 | Q → P in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017880 | 292 | R → W in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017881 | 293 | R → Q in CURRAS. 1 Publication | 1 | |
Natural variantiVAR_017882 | 293 | R → W in CURRAS. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046773 | 1 – 212 | Missing in isoform 2. CuratedAdd BLAST | 212 | |
Alternative sequenceiVSP_046774 | 213 – 231 | WLRAS…PDFNS → MGGLSTVGACPGILGAQQA in isoform 2. CuratedAdd BLAST | 19 |
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. |
CCDSi | CCDS34788.1. [P50219-1] CCDS55187.1. [P50219-2] |
RefSeqi | NP_001158727.1. NM_001165255.1. [P50219-2] NP_005506.3. NM_005515.3. [P50219-1] |
UniGenei | Hs.37035. |
Genome annotation databases
Ensembli | ENST00000252971; ENSP00000252971; ENSG00000130675. [P50219-1] ENST00000543409; ENSP00000438552; ENSG00000130675. [P50219-2] |
GeneIDi | 3110. |
KEGGi | hsa:3110. |
UCSCi | uc003wnc.1. human. [P50219-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Entry informationi
Entry namei | MNX1_HUMAN | |
Accessioni | P50219Primary (citable) accession number: P50219 Secondary accession number(s): F5H401, Q9Y648 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | September 22, 2009 | |
Last modified: | March 28, 2018 | |
This is version 154 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |