Reviewed,
UniProtKB/Swiss-Prot P50219 (MNX1_HUMAN)
Last modified
November 25, 2008.
Version 67.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Motor neuron and pancreas homeobox protein 1 Alternative name(s): Homeobox protein HB9 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 403 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Putative transcription factor involved in pancreas development and function. |
| Subcellular location | |
| Tissue specificity | Expressed in lymphoid and pancreatic tissues. |
| Involvement in disease | Defects in MNX1 are a cause of Currarino syndrome [MIM:176450]. The 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. |
| Sequence similarities | Contains 1 homeobox DNA-binding domain. |
Ontologies
Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Disease | Disease mutation |
| Domain | Homeobox |
| Ligand | DNA-binding |
| PTM | Phosphoprotein |
Gene Ontology (GO) | |
| Biological process | anatomical structure morphogenesis Traceable author statement. Source: ProtInc humoral immune response Ref.1Traceable author statement. Source: ProtInc regulation of transcription from RNA polymerase II promoterTraceable author statement. Source: ProtInc |
| Cellular component | nucleus Non-traceable author statement. Source: UniProtKB |
| Molecular function | RNA polymerase II transcription factor activity Ref.1 Traceable author statement. Source: ProtInc sequence-specific DNA bindingInferred from electronic annotation. Source: InterPro transcription factor activityNon-traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 403 | 403 | Motor neuron and pancreas homeobox protein 1 | PRO_0000048905 | |||||
Regions | |||||||||
| DNA binding | 243 – 302 | 60 | Homeobox | ||||||
| Compositional bias | 35 – 38 | 4 | Poly-Ala | ||||||
| Compositional bias | 40 – 49 | 10 | Poly-Gly | ||||||
| Compositional bias | 98 – 112 | 15 | Poly-Gly | ||||||
| Compositional bias | 121 – 136 | 16 | Poly-Ala | ||||||
| Compositional bias | 170 – 178 | 9 | Poly-Ala | ||||||
| Compositional bias | 317 – 326 | 10 | Poly-Gly | ||||||
Amino acid modifications | |||||||||
| Modified residue | 77 | 1 | Phosphoserine | ||||||
| Modified residue | 79 | 1 | Phosphoserine | ||||||
Natural variations | |||||||||
| Natural variant | 247 | 1 | R → G in Currarino syndrome. | VAR_017874 | |||||
| Natural variant | 247 | 1 | R → H in Currarino syndrome. | VAR_017875 | |||||
| Natural variant | 248 | 1 | T → S in Currarino syndrome. | VAR_017876 | |||||
| Natural variant | 290 | 1 | W → G in Currarino syndrome. | VAR_017877 | |||||
| Natural variant | 290 | 1 | W → L in Currarino syndrome. | VAR_017878 | |||||
| Natural variant | 292 | 1 | Q → P in Currarino syndrome. | VAR_017879 | |||||
| Natural variant | 294 | 1 | R → W in Currarino syndrome. | VAR_017880 | |||||
| Natural variant | 295 | 1 | R → Q in Currarino syndrome. | VAR_017881 | |||||
| Natural variant | 295 | 1 | R → W in Currarino syndrome. | VAR_017882 | |||||
Experimental info | |||||||||
| Sequence conflict | 10 – 37 | 28 | DALLA…SLAAA → EPCWRWTPHEPPLAERALAK VTSPPVP Ref.1 | ||||||
| Sequence conflict | 122 | 1 | R → A in AAB60647. Ref.1 | ||||||
| Sequence conflict | 264 | 1 | L → F in AAB60647. Ref.1 | ||||||
| Sequence conflict | 342 | 1 | G → R in AAB60647. Ref.1 | ||||||
| Sequence conflict | 348 – 351 | 4 | XRLR → PPA Ref.1 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| U07664, U07663 Genomic DNA. Translation: AAB60647.1. AF107453, AF107452 Genomic DNA. Translation: AAD41467.1. | |
| UniGene | Hs.37035 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1B72 based on UniProtKB P14653. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | P50219. |
Genome annotation databases | |
| Ensembl | ENSG00000130675. Homo sapiens. [Contig view] |
Organism-specific databases | |
| HGNC | HGNC:4979. MNX1. |
| MIM | 142994. gene. 176450. phenotype. |
| Orphanet | 1552. Currarino triad. |
| PharmGKB | PA29313. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | P50219. |
| HOVERGEN | P50219. |
Gene expression databases | |
| ArrayExpress | P50219. |
| CleanEx | HS_MNX1. |
| GermOnline | ENSG00000130675. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001356. Homeobox. IPR012287. Homeodomain-rel. [Graphical view] |
| Gene3D | G3DSA:1.10.10.60. Homeodomain-rel. 1 hit. |
| Pfam | PF00046. Homeobox. 1 hit. [Graphical view] |
| PRINTS | PR00024. HOMEOBOX. |
| ProDom | PD000010. Homeobox. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| SMART | SM00389. HOX. 1 hit. [Graphical view] |
| PROSITE | PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| SOURCE | Search... |
Entry information
| Entry name | MNX1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P50219 Secondary accession number(s): Q9Y648 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


