Q13491 (GPM6B_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 109.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Neuronal membrane glycoprotein M6-b Short name=M6b | ||||
| Gene names |
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| 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 | 265 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May be involved in neural development. Involved in regulation of osteoblast function and bone formation. Involved in matrix vesicle release by osteoblasts; this function seems to involve maintenance of the actin cytoskeleton. May be involved in cellular trafficking of SERT and thereby in regulation of serotonin uptake. Ref.10 |
| Subunit structure | Interacts with SERT. Ref.9 |
| Subcellular location | Cell membrane; Multi-pass membrane protein By similarity. Note: Colocalizes with SERT at the plasma membrane By similarity. |
| Tissue specificity | Neurons and glia; cerebellar Bergmann glia, in glia within white matter tracts of the cerebellum and cerebrum, and in embryonic dorsal root ganglia. |
| Sequence similarities | Belongs to the myelin proteolipid protein family. |
| Sequence caution | The sequence AAB16888.1 differs from that shown. Reason: Erroneous initiation. The sequence AAC19165.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q13491-1) Also known as: A; 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: Q13491-2) Also known as: B; The sequence of this isoform differs from the canonical sequence as follows: 1-20: MKPAMETAAEENTEQSQERK → M | ||||||
| Isoform 3 (identifier: Q13491-3) The sequence of this isoform differs from the canonical sequence as follows: 20-20: K → KVNSRAEMEIGRYHWMYPGSKNHQYHPVPTLGDRASPLSSP | ||||||
| Isoform 4 (identifier: Q13491-4) The sequence of this isoform differs from the canonical sequence as follows: 20-20: K → KVNSRAEMEIGRYHWMYPGSKNHQYHPVPTLGDRASPLSSP 240-265: LIYMMATTYNYAVLKFKSREDCCTKF → IHFLMILSSNWAYLKDASKMQAYQDIKAKEEQELQDIQSRSKEQLNSYT | ||||||
| Note: Contains a phosphoserine at position 318. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 265 | 265 | Neuronal membrane glycoprotein M6-b | PRO_0000159021 | |||||
Regions | |||||||||
| Transmembrane | 31 – 51 | 21 | Helical; Potential | ||||||
| Transmembrane | 90 – 110 | 21 | Helical; Potential | ||||||
| Transmembrane | 136 – 156 | 21 | Helical; Potential | ||||||
| Transmembrane | 224 – 244 | 21 | Helical; Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 257 | 1 | Phosphoserine By similarity | ||||||
| Glycosylation | 73 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 177 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 20 | 20 | MKPAM…SQERK → M in isoform 2. | VSP_003326 | |||||
| Alternative sequence | 20 | 1 | K → KVNSRAEMEIGRYHWMYPGS KNHQYHPVPTLGDRASPLSS P in isoform 3 and isoform 4. | VSP_041121 | |||||
| Alternative sequence | 240 – 265 | 26 | LIYMM…CCTKF → IHFLMILSSNWAYLKDASKM QAYQDIKAKEEQELQDIQSR SKEQLNSYT in isoform 4. | VSP_043247 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Chromosomal mapping of the human M6 genes." Olinsky S., Loop B.T., Dekosky A., Ripepi B., Weng W., Cummins J., Wenger S.L., Yan Y., Lagenaur C., Narayanan V. Genomics 33:532-536(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Spinal cord. |
| [2] | "Mutation analysis of the M6b gene in patients with Rett syndrome." Narayanan V., Olinsky S.L., Dahle E., Naidu S., Zoghbi H.Y. Am. J. Med. Genet. 78:165-168(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2). |
| [3] | "Cloning of human full-length m6b1 gene." Xia J.-H., Liu C.-Y., Ruan Q.-G., Fu J.-J., Deng H.-X. Submitted (JUL-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [4] | "Molecular cloning of a splicing form of M6b." Liu C.-Y., Cui F., Fu J.-J., Xia J.-H. Submitted (FEB-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1). |
| [5] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Brain. |
| [6] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | 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]. |
| [8] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Brain. |
| [9] | "Membrane glycoprotein M6B interacts with the human serotonin transporter." Fjorback A.W., Muller H.K., Wiborg O. J. Mol. Neurosci. 37:191-200(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH SERT. |
| [10] | "GPM6B regulates osteoblast function and induction of mineralization by controlling cytoskeleton and matrix vesicle release." Drabek K., van de Peppel J., Eijken M., van Leeuwen J.P. J. Bone Miner. Res. 26:2045-2051(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [11] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-318 (ISOFORM 4), MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U45955 mRNA. Translation: AAB16888.1. Different initiation. AF037347 AF037346 Genomic DNA. Translation: AAC19165.1. Different initiation.AF037347 AF037346 Genomic DNA. Translation: AAC19166.1.AF016004 mRNA. Translation: AAC28560.1. AF047197 AF047196 Genomic DNA. Translation: AAD13718.1.AK095657 mRNA. Translation: BAC04600.1. AC003035 Genomic DNA. No translation available. AC003037 Genomic DNA. No translation available. CH471074 Genomic DNA. Translation: EAW98845.1. CH471074 Genomic DNA. Translation: EAW98846.1. BC008151 mRNA. Translation: AAH08151.1. BC047295 mRNA. Translation: AAH47295.1. |
| IPI | IPI00013421. IPI00187158. IPI00384484. IPI00411643. |
| RefSeq | NP_001001994.1. NM_001001994.1. NP_001001995.1. NM_001001995.1. NP_001001996.1. NM_001001996.1. NP_005269.1. NM_005278.3. |
| UniGene | Hs.495710. |
3D structure databases | |
| ProteinModelPortal | Q13491. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q13491. 2 interactions. |
| STRING | 9606.ENSP00000316861. |
PTM databases | |
| PhosphoSite | Q13491. |
Polymorphism databases | |
| DMDM | 20141466. |
Proteomic databases | |
| PaxDb | Q13491. |
| PRIDE | Q13491. |
Protocols and materials databases | |
| DNASU | 2824. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000316715; ENSP00000316861; ENSG00000046653. ENST00000355135; ENSP00000347258; ENSG00000046653. ENST00000356942; ENSP00000349420; ENSG00000046653. ENST00000454189; ENSP00000389915; ENSG00000046653. |
| GeneID | 2824. |
| KEGG | hsa:2824. |
| UCSC | uc004cvw.3. human. uc004cvy.2. human. uc004cvz.2. human. uc004cwa.2. human. |
Organism-specific databases | |
| CTD | 2824. |
| GeneCards | GC0XM013698. |
| HGNC | HGNC:4461. GPM6B. |
| HPA | HPA002913. |
| MIM | 300051. gene. |
| neXtProt | NX_Q13491. |
| PharmGKB | PA28844. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG300631. |
| HOGENOM | HOG000231338. |
| HOVERGEN | HBG000096. |
| OMA | KECLNSY. |
Gene expression databases | |
| ArrayExpress | Q13491. |
| Bgee | Q13491. |
| CleanEx | HS_GPM6B. |
| Genevestigator | Q13491. |
| GermOnline | ENSG00000046653. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001614. Myelin_PLP. IPR018237. Myelin_PLP_CS. [Graphical view] |
| PANTHER | PTHR11683. PTHR11683. 1 hit. |
| Pfam | PF01275. Myelin_PLP. 1 hit. [Graphical view] |
| PRINTS | PR00214. MYELINPLP. |
| SMART | SM00002. PLP. 1 hit. [Graphical view] |
| PROSITE | PS00575. MYELIN_PLP_1. 1 hit. PS01004. MYELIN_PLP_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | GPM6B. human. |
| GenomeRNAi | 2824. |
| NextBio | 11135. |
| SOURCE | Search... |
Entry information
| Entry name | GPM6B_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13491 Secondary accession number(s): O76077, Q86X43, Q8N956 | ||||||||
| Entry history |
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| 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 X Human chromosome X: entries, gene names and cross-references to MIM |
| 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
