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Q13491 (GPM6B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neuronal membrane glycoprotein M6-b

Short name=M6b
Gene names
Name:GPM6B
Synonyms:M6B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length265 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Keywords
   Biological processDifferentiation
Neurogenesis
Osteogenesis
Protein transport
Transport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
   DomainTransmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   PTMGlycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

extracellular matrix assembly

Inferred from mutant phenotype Ref.10. Source: UniProtKB

negative regulation of protein localization to cell surface

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of serotonin uptake

Inferred from sequence or structural similarity. Source: UniProtKB

nervous system development

Non-traceable author statement Ref.1. Source: UniProtKB

ossification

Inferred from electronic annotation. Source: UniProtKB-KW

positive regulation of bone mineralization

Inferred from mutant phenotype Ref.10. Source: UniProtKB

protein transport

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of actin cytoskeleton organization

Inferred from mutant phenotype Ref.10. Source: UniProtKB

regulation of focal adhesion assembly

Inferred from mutant phenotype Ref.10. Source: UniProtKB

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

membrane raft

Inferred from sequence or structural similarity. Source: UniProtKB

plasma membrane

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 265265Neuronal membrane glycoprotein M6-b
PRO_0000159021

Regions

Transmembrane31 – 5121Helical; Potential
Transmembrane90 – 11021Helical; Potential
Transmembrane136 – 15621Helical; Potential
Transmembrane224 – 24421Helical; Potential

Amino acid modifications

Glycosylation731N-linked (GlcNAc...) Potential
Glycosylation1771N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 2020MKPAM…SQERK → M in isoform 2.
VSP_003326
Alternative sequence201K → KVNSRAEMEIGRYHWMYPGS KNHQYHPVPTLGDRASPLSS P in isoform 3 and isoform 4.
VSP_041121
Alternative sequence240 – 26526LIYMM…CCTKF → IHFLMILSSNWAYLKDASKM QAYQDIKAKEEQELQDIQSR SKEQLNSYT in isoform 4.
VSP_043247

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) [UniParc].

Last modified April 3, 2002. Version 2.
Checksum: 560AB12DD2B5AE75

FASTA26528,989
        10         20         30         40         50         60 
MKPAMETAAE ENTEQSQERK GCFECCIKCL GGVPYASLVA TILCFSGVAL FCGCGHVALA 

        70         80         90        100        110        120 
GTVAILEQHF STNASDHALL SEVIQLMQYV IYGIASFFFL YGIILLAEGF YTTSAVKELH 

       130        140        150        160        170        180 
GEFKTTACGR CISGMFVFLT YVLGVAWLGV FGFSAVPVFM FYNIWSTCEV IKSPQTNGTT 

       190        200        210        220        230        240 
GVEQICVDIR QYGIIPWNAF PGKICGSALE NICNTNEFYM SYHLFIVACA GAGATVIALL 

       250        260 
IYMMATTYNY AVLKFKSRED CCTKF 

« Hide

Isoform 2 (B) [UniParc].

Checksum: 9DA14EFDF2CFB81F
Show »

FASTA24626,830
Isoform 3 [UniParc].

Checksum: 69BE0DAA9B35C3A0
Show »

FASTA30533,538
Isoform 4 [UniParc].

Checksum: 58E2FC71DEA76C7A
Show »

FASTA32836,220

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., 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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U45955 mRNA. Translation: AAB16888.1. Different initiation.
AF037347 expand/collapse EMBL AC list , AF037341, AF037342, AF037343, AF037344, AF037345, AF037346 Genomic DNA. Translation: AAC19165.1. Different initiation.
AF037347 expand/collapse EMBL AC list , AF037340, AF037342, AF037343, AF037344, AF037345, AF037346 Genomic DNA. Translation: AAC19166.1.
AF016004 mRNA. Translation: AAC28560.1.
AF047197 expand/collapse EMBL AC list , AF047191, AF047192, AF047193, AF047194, AF047195, 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.
CCDSCCDS14158.1. [Q13491-1]
CCDS35206.1. [Q13491-4]
CCDS35207.1. [Q13491-3]
CCDS48084.1. [Q13491-2]
RefSeqNP_001001994.1. NM_001001994.1. [Q13491-2]
NP_001001995.1. NM_001001995.1. [Q13491-4]
NP_001001996.1. NM_001001996.1. [Q13491-3]
NP_005269.1. NM_005278.3. [Q13491-1]
UniGeneHs.495710.

3D structure databases

ProteinModelPortalQ13491.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109085. 4 interactions.
IntActQ13491. 2 interactions.
STRING9606.ENSP00000316861.

PTM databases

PhosphoSiteQ13491.

Polymorphism databases

DMDM20141466.

Proteomic databases

PaxDbQ13491.
PRIDEQ13491.

Protocols and materials databases

DNASU2824.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316715; ENSP00000316861; ENSG00000046653. [Q13491-4]
ENST00000355135; ENSP00000347258; ENSG00000046653. [Q13491-3]
ENST00000356942; ENSP00000349420; ENSG00000046653. [Q13491-1]
ENST00000454189; ENSP00000389915; ENSG00000046653. [Q13491-2]
GeneID2824.
KEGGhsa:2824.
UCSCuc004cvw.3. human. [Q13491-4]
uc004cvy.2. human. [Q13491-3]
uc004cvz.2. human. [Q13491-1]
uc004cwa.2. human. [Q13491-2]

Organism-specific databases

CTD2824.
GeneCardsGC0XM013698.
HGNCHGNC:4461. GPM6B.
HPAHPA002913.
MIM300051. gene.
neXtProtNX_Q13491.
PharmGKBPA28844.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG300631.
HOGENOMHOG000231338.
HOVERGENHBG000096.
OMAPGRICGS.
OrthoDBEOG7X3QRG.
PhylomeDBQ13491.
TreeFamTF315162.

Gene expression databases

ArrayExpressQ13491.
BgeeQ13491.
CleanExHS_GPM6B.
GenevestigatorQ13491.

Family and domain databases

InterProIPR001614. Myelin_PLP.
IPR018237. Myelin_PLP_CS.
[Graphical view]
PANTHERPTHR11683. PTHR11683. 1 hit.
PfamPF01275. Myelin_PLP. 1 hit.
[Graphical view]
PRINTSPR00214. MYELINPLP.
SMARTSM00002. PLP. 1 hit.
[Graphical view]
PROSITEPS00575. MYELIN_PLP_1. 1 hit.
PS01004. MYELIN_PLP_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGPM6B. human.
GeneWikiGPM6B.
GenomeRNAi2824.
NextBio11135.
PROQ13491.
SOURCESearch...

Entry information

Entry nameGPM6B_HUMAN
AccessionPrimary (citable) accession number: Q13491
Secondary accession number(s): O76077, Q86X43, Q8N956
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 3, 2002
Last modified: July 9, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM