Reviewed,
UniProtKB/Swiss-Prot Q96B86 (RGMA_HUMAN)
Last modified
March 2, 2010.
Version 58.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Repulsive guidance molecule A Alternative name(s): RGM domain family member A | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete 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 | 450 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Member of the repulsive guidance molecule (RGM) family that performs several functions in the developing and adult nervous system. Regulates cephalic neural tube closure, inhibits neurite outgrowth and cortical neuron branching, and the formation of mature synapses. Binding to its receptor NEO1/neogenin induces activation of RHOA-ROCK1/Rho-kinase signaling pathway through UNC5B-ARHGEF12/LARG-PTK2 cascade, leading to collapse of the neuronal growth cone and neurite outgrowth inhibition. Furthermore, RGMA binding to NEO1/neogenin leads to HRAS inactivation by influencing HRAS1-PTK2-AKT1 pathway. It also functions as a bone morphogenetic protein (BMP) coreceptor that may signal through SMAD1, SMAD5, and SMAD8. Ref.6 Ref.7 |
| Subunit structure | Interacts with NEO1, BMP2 and BMP4 By similarity. |
| Subcellular location | Cell membrane; Lipid-anchor › GPI-anchor By similarity. |
| Sequence similarities | Belongs to the repulsive guidance molecule (RGM) family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal |
| PTM | GPI-anchor Glycoprotein Lipoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Cellular component | anchored to membrane Inferred from electronic annotation. Source: UniProtKB-KW endoplasmic reticulumInferred from direct assay. Source: LIFEdb plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96B86-1) 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. | ||||||
| Isoform 2 (identifier: Q96B86-2) The sequence of this isoform differs from the canonical sequence as follows: 1-4: MQPP → ARGRGGRSLPARCSRRRSEAALSSQRDLFSSPFFLNSSS | ||||||
| Note: Incomplete sequence. No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 47 | 47 | Potential | ||||||
| Propeptide | 48 – 168 | 121 | Removed in mature form By similarity | PRO_0000030385 | |||||
| Chain | 169 – 424 | 256 | Repulsive guidance molecule A | PRO_0000030386 | |||||
| Propeptide | 425 – 450 | 26 | Removed in mature form Potential | PRO_0000030387 | |||||
Amino acid modifications | |||||||||
| Lipidation | 424 | 1 | GPI-anchor amidated alanine Potential | ||||||
| Glycosylation | 114 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 159 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 389 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 4 | 4 | MQPP → ARGRGGRSLPARCSRRRSEA ALSSQRDLFSSPFFLNSSS in isoform 2. | VSP_022294 | |||||
| Natural variant | 415 | 1 | E → D: dbSNP rs4238485. | VAR_062144 | |||||
| Natural variant | 431 | 1 | A → V: dbSNP rs4778078. | VAR_060105 | |||||
Experimental info | |||||||||
| Sequence conflict | 199 | 1 | V → A in BAC11285. Ref.2 | ||||||
Sequences
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References
| [1] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Teratocarcinoma. |
| [3] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain and Uterus. |
| [5] | The European IMAGE consortium Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases Cited for: PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Retina. |
| [6] | "Unc5B associates with LARG to mediate the action of repulsive guidance molecule." Hata K., Kaibuchi K., Inagaki S., Yamashita T. J. Cell Biol. 184:737-750(2009) [PubMed: 19273616] [Abstract] Cited for: FUNCTION. |
| [7] | "Inactivation of Ras by p120GAP via focal adhesion kinase dephosphorylation mediates RGMa-induced growth cone collapse." Endo M., Yamashita T. J. Neurosci. 29:6649-6662(2009) [PubMed: 19458235] [Abstract] Cited for: FUNCTION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AL136826 mRNA. Translation: CAB66760.1. AK074910 mRNA. Translation: BAC11285.1. AK074966 mRNA. Translation: BAC11321.1. AK074980 mRNA. Translation: BAC11330.1. CH471101 Genomic DNA. Translation: EAX02167.1. BC015886 mRNA. Translation: AAH15886.2. BC140838 mRNA. Translation: AAI40839.1. BC151132 mRNA. Translation: AAI51133.1. AL390083 mRNA. Translation: CAB98207.1. |
| IPI | IPI00015049. IPI00478417. |
| RefSeq | NP_001159758.1. NP_001159759.1. NP_001159760.1. NP_001159761.1. NP_064596.2. |
| UniGene | Hs.271277 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96B86. 2 interactions. |
| STRING | Q96B86. |
Proteomic databases | |
| PRIDE | Q96B86. |
Genome annotation databases | |
| Ensembl | ENST00000329082; ENSP00000330005; ENSG00000182175; Homo sapiens. [Genome view] |
| GeneID | 56963. |
Organism-specific databases | |
| CTD | 56963. |
| GeneCards | GC15M091387. |
| HGNC | HGNC:30308. RGMA. |
| HPA | CAB012343. |
| MIM | 607362. gene. |
| PharmGKB | PA128394693. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | HBG057627. |
| InParanoid | Q96B86. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | bmppathway. BMP receptor signaling. |
Gene expression databases | |
| ArrayExpress | Q96B86. |
| Bgee | Q96B86. |
| CleanEx | HS_RGMA. |
| Genevestigator | Q96B86. |
| GermOnline | ENSG00000182175. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR009496. RGM_C. IPR010536. RGM_N. [Graphical view] |
| Pfam | PF06534. RGM_C. 1 hit. PF06535. RGM_N. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 62595. |
| SOURCE | Search... |
Entry information
| Entry name | RGMA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96B86 Secondary accession number(s): B2RTW1 Q9NPM3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 15 Human chromosome 15: 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


