P50219 (MNX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 113.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Motor neuron and pancreas homeobox protein 1 Alternative name(s): Homeobox protein HB9 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 401 AA. |
| Sequence status | Complete. |
| 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 | Currarino syndrome (CURRAS) [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
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 401 | 401 | Motor neuron and pancreas homeobox protein 1 | PRO_0000048905 | |||||
Regions | |||||||||
| DNA binding | 241 – 300 | 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 – 134 | 14 | Poly-Ala | ||||||
| Compositional bias | 168 – 176 | 9 | Poly-Ala | ||||||
| Compositional bias | 315 – 324 | 10 | Poly-Gly | ||||||
Natural variations | |||||||||
| Natural variant | 243 | 1 | R → W in CURRAS. Ref.8 | VAR_068473 | |||||
| Natural variant | 245 | 1 | R → G in CURRAS. Ref.6 | VAR_017874 | |||||
| Natural variant | 245 | 1 | R → H in CURRAS. Ref.6 | VAR_017875 | |||||
| Natural variant | 246 | 1 | T → S in CURRAS. Ref.5 | VAR_017876 | |||||
| Natural variant | 288 | 1 | W → G in CURRAS. Ref.6 Ref.8 | VAR_017877 | |||||
| Natural variant | 288 | 1 | W → L in CURRAS. Ref.6 | VAR_017878 | |||||
| Natural variant | 289 | 1 | F → S in CURRAS. Ref.9 | VAR_068474 | |||||
| Natural variant | 290 | 1 | Q → P in CURRAS. Ref.6 | VAR_017879 | |||||
| Natural variant | 292 | 1 | R → W in CURRAS. Ref.6 | VAR_017880 | |||||
| Natural variant | 293 | 1 | R → Q in CURRAS. Ref.6 | VAR_017881 | |||||
| Natural variant | 293 | 1 | R → W in CURRAS. Ref.5 | VAR_017882 | |||||
Experimental info | |||||||||
| Sequence conflict | 10 – 37 | 28 | DALLA…SLAAA → EPCWRWTPHEPPLAERALAK VTSPPVP in AAB60647. Ref.1 | ||||||
| Sequence conflict | 121 | 1 | A → AAA in AAB60647. Ref.1 | ||||||
| Sequence conflict | 121 | 1 | A → ARA in AAD41467. Ref.3 | ||||||
| Sequence conflict | 262 | 1 | L → F in AAB60647. Ref.1 | ||||||
| Sequence conflict | 340 | 1 | G → R in AAB60647. Ref.1 | ||||||
| Sequence conflict | 346 – 349 | 4 | RRLR → PPA in AAB60647. Ref.1 | ||||||
Sequences
| ||||||||||||||||||
References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U07664, U07663 Genomic DNA. Translation: AAB60647.1. AC006357 Genomic DNA. No translation available. AH007909 Genomic DNA. Translation: AAD41467.1. |
| IPI | IPI00030703. |
| RefSeq | NP_005506.3. NM_005515.3. |
| UniGene | Hs.37035. |
3D structure databases | |
| ProteinModelPortal | P50219. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000252971. |
PTM databases | |
| PhosphoSite | P50219. |
Polymorphism databases | |
| DMDM | 259016336. |
Proteomic databases | |
| PaxDb | P50219. |
| PRIDE | P50219. |
Protocols and materials databases | |
| DNASU | 3110. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000252971; ENSP00000252971; ENSG00000130675. |
| GeneID | 3110. |
| KEGG | hsa:3110. |
| UCSC | uc003wna.3. human. |
Organism-specific databases | |
| CTD | 3110. |
| GeneCards | GC07M156786. |
| H-InvDB | HIX0033536. |
| HGNC | HGNC:4979. MNX1. |
| MIM | 142994. gene. 176450. phenotype. |
| neXtProt | NX_P50219. |
| Orphanet | 1552. Currarino triad. |
| PharmGKB | PA162396041. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG322049. |
| HOGENOM | HOG000234345. |
| HOVERGEN | HBG051910. |
| InParanoid | P50219. |
| KO | K08025. |
| PhylomeDB | P50219. |
Gene expression databases | |
| ArrayExpress | P50219. |
| Bgee | P50219. |
| CleanEx | HS_MNX1. |
| Genevestigator | P50219. |
| GermOnline | ENSG00000130675. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.10.60. 1 hit. |
| InterPro | IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view] |
| Pfam | PF00046. Homeobox. 1 hit. [Graphical view] |
| PRINTS | PR00024. HOMEOBOX. |
| SMART | SM00389. HOX. 1 hit. [Graphical view] |
| SUPFAM | SSF46689. Homeodomain_like. 1 hit. |
| PROSITE | PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 3110. |
| NextBio | 12341. |
| SOURCE | Search... |
Entry information
| Entry name | MNX1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P50219 Secondary accession number(s): Q9Y648 | ||||||||
| Entry history |
| ||||||||
| Entry status | 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. | ||||||||
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
