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Protein

Neuronal membrane glycoprotein M6-b

Gene

GPM6B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • extracellular matrix assembly Source: UniProtKB
  • negative regulation of protein localization to cell surface Source: UniProtKB
  • negative regulation of serotonin uptake Source: UniProtKB
  • nervous system development Source: UniProtKB
  • ossification Source: UniProtKB-KW
  • positive regulation of bone mineralization Source: UniProtKB
  • protein transport Source: UniProtKB-KW
  • regulation of actin cytoskeleton organization Source: UniProtKB
  • regulation of focal adhesion assembly Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Osteogenesis, Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000046653-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Neuronal membrane glycoprotein M6-b
Short name:
M6b
Gene namesi
Name:GPM6B
Synonyms:M6B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:4461. GPM6B.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei31 – 51HelicalSequence analysisAdd BLAST21
Transmembranei90 – 110HelicalSequence analysisAdd BLAST21
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Transmembranei224 – 244HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi2824.
OpenTargetsiENSG00000046653.
PharmGKBiPA28844.

Polymorphism and mutation databases

BioMutaiGPM6B.
DMDMi20141466.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001590211 – 265Neuronal membrane glycoprotein M6-bAdd BLAST265

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi73N-linked (GlcNAc...)Sequence analysis1
Glycosylationi177N-linked (GlcNAc...)Sequence analysis1
Modified residuei257PhosphoserineBy similarity1
Isoform 4 (identifier: Q13491-4)
Modified residuei318PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PeptideAtlasiQ13491.
PRIDEiQ13491.

PTM databases

PhosphoSitePlusiQ13491.

Expressioni

Tissue specificityi

Neurons and glia; cerebellar Bergmann glia, in glia within white matter tracts of the cerebellum and cerebrum, and in embryonic dorsal root ganglia.

Gene expression databases

BgeeiENSG00000046653.
CleanExiHS_GPM6B.
ExpressionAtlasiQ13491. baseline and differential.
GenevisibleiQ13491. HS.

Organism-specific databases

HPAiHPA002913.

Interactioni

Subunit structurei

Interacts with SERT.1 Publication

Protein-protein interaction databases

BioGridi109085. 12 interactors.
IntActiQ13491. 4 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ13491.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the myelin proteolipid protein family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00390000006915.
HOGENOMiHOG000231338.
HOVERGENiHBG000096.
InParanoidiQ13491.
OMAiKECLNSY.
OrthoDBiEOG091G0IM5.
PhylomeDBiQ13491.
TreeFamiTF315162.

Family and domain databases

InterProiIPR001614. Myelin_PLP.
IPR018237. Myelin_PLP_CS.
[Graphical view]
PANTHERiPTHR11683. PTHR11683. 1 hit.
PfamiPF01275. Myelin_PLP. 1 hit.
[Graphical view]
PRINTSiPR00214. MYELINPLP.
SMARTiSM00002. PLP. 1 hit.
[Graphical view]
PROSITEiPS00575. MYELIN_PLP_1. 1 hit.
PS01004. MYELIN_PLP_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q13491-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MKPAMETAAE ENTEQSQERK GCFECCIKCL GGVPYASLVA TILCFSGVAL
60 70 80 90 100
FCGCGHVALA GTVAILEQHF STNASDHALL SEVIQLMQYV IYGIASFFFL
110 120 130 140 150
YGIILLAEGF YTTSAVKELH GEFKTTACGR CISGMFVFLT YVLGVAWLGV
160 170 180 190 200
FGFSAVPVFM FYNIWSTCEV IKSPQTNGTT GVEQICVDIR QYGIIPWNAF
210 220 230 240 250
PGKICGSALE NICNTNEFYM SYHLFIVACA GAGATVIALL IYMMATTYNY
260
AVLKFKSRED CCTKF
Length:265
Mass (Da):28,989
Last modified:April 3, 2002 - v2
Checksum:i560AB12DD2B5AE75
GO
Isoform 2 (identifier: Q13491-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MKPAMETAAEENTEQSQERK → M

Show »
Length:246
Mass (Da):26,830
Checksum:i9DA14EFDF2CFB81F
GO
Isoform 3 (identifier: Q13491-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-20: K → KVNSRAEMEIGRYHWMYPGSKNHQYHPVPTLGDRASPLSSP

Show »
Length:305
Mass (Da):33,538
Checksum:i69BE0DAA9B35C3A0
GO
Isoform 4 (identifier: Q13491-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-20: K → KVNSRAEMEIGRYHWMYPGSKNHQYHPVPTLGDRASPLSSP
     240-265: LIYMMATTYNYAVLKFKSREDCCTKF → IHFLMILSSNWAYLKDASKMQAYQDIKAKEEQELQDIQSRSKEQLNSYT

Show »
Length:328
Mass (Da):36,220
Checksum:i58E2FC71DEA76C7A
GO

Sequence cautioni

The sequence AAB16888 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAC19165 differs from that shown. Reason: Erroneous initiation.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0033261 – 20MKPAM…SQERK → M in isoform 2. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_04112120K → KVNSRAEMEIGRYHWMYPGS KNHQYHPVPTLGDRASPLSS P in isoform 3 and isoform 4. 2 Publications1
Alternative sequenceiVSP_043247240 – 265LIYMM…CCTKF → IHFLMILSSNWAYLKDASKM QAYQDIKAKEEQELQDIQSR SKEQLNSYT in isoform 4. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U45955 mRNA. Translation: AAB16888.1. Different initiation.
AF037347
, AF037341, AF037342, AF037343, AF037344, AF037345, AF037346 Genomic DNA. Translation: AAC19165.1. Different initiation.
AF037347
, AF037340, AF037342, AF037343, AF037344, AF037345, AF037346 Genomic DNA. Translation: AAC19166.1.
AF016004 mRNA. Translation: AAC28560.1.
AF047197
, 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.
CCDSiCCDS14158.1. [Q13491-1]
CCDS35206.1. [Q13491-4]
CCDS35207.1. [Q13491-3]
CCDS48084.1. [Q13491-2]
RefSeqiNP_001001994.1. NM_001001994.2. [Q13491-2]
NP_001001995.1. NM_001001995.2. [Q13491-4]
NP_001001996.1. NM_001001996.2. [Q13491-3]
NP_005269.1. NM_005278.4. [Q13491-1]
UniGeneiHs.495710.

Genome annotation databases

EnsembliENST00000316715; ENSP00000316861; ENSG00000046653. [Q13491-4]
ENST00000355135; ENSP00000347258; ENSG00000046653. [Q13491-3]
ENST00000356942; ENSP00000349420; ENSG00000046653. [Q13491-1]
ENST00000454189; ENSP00000389915; ENSG00000046653. [Q13491-2]
GeneIDi2824.
KEGGihsa:2824.
UCSCiuc004cvw.4. human. [Q13491-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U45955 mRNA. Translation: AAB16888.1. Different initiation.
AF037347
, AF037341, AF037342, AF037343, AF037344, AF037345, AF037346 Genomic DNA. Translation: AAC19165.1. Different initiation.
AF037347
, AF037340, AF037342, AF037343, AF037344, AF037345, AF037346 Genomic DNA. Translation: AAC19166.1.
AF016004 mRNA. Translation: AAC28560.1.
AF047197
, 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.
CCDSiCCDS14158.1. [Q13491-1]
CCDS35206.1. [Q13491-4]
CCDS35207.1. [Q13491-3]
CCDS48084.1. [Q13491-2]
RefSeqiNP_001001994.1. NM_001001994.2. [Q13491-2]
NP_001001995.1. NM_001001995.2. [Q13491-4]
NP_001001996.1. NM_001001996.2. [Q13491-3]
NP_005269.1. NM_005278.4. [Q13491-1]
UniGeneiHs.495710.

3D structure databases

ProteinModelPortaliQ13491.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109085. 12 interactors.
IntActiQ13491. 4 interactors.

PTM databases

PhosphoSitePlusiQ13491.

Polymorphism and mutation databases

BioMutaiGPM6B.
DMDMi20141466.

Proteomic databases

PeptideAtlasiQ13491.
PRIDEiQ13491.

Protocols and materials databases

DNASUi2824.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316715; ENSP00000316861; ENSG00000046653. [Q13491-4]
ENST00000355135; ENSP00000347258; ENSG00000046653. [Q13491-3]
ENST00000356942; ENSP00000349420; ENSG00000046653. [Q13491-1]
ENST00000454189; ENSP00000389915; ENSG00000046653. [Q13491-2]
GeneIDi2824.
KEGGihsa:2824.
UCSCiuc004cvw.4. human. [Q13491-1]

Organism-specific databases

CTDi2824.
DisGeNETi2824.
GeneCardsiGPM6B.
HGNCiHGNC:4461. GPM6B.
HPAiHPA002913.
MIMi300051. gene.
neXtProtiNX_Q13491.
OpenTargetsiENSG00000046653.
PharmGKBiPA28844.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000006915.
HOGENOMiHOG000231338.
HOVERGENiHBG000096.
InParanoidiQ13491.
OMAiKECLNSY.
OrthoDBiEOG091G0IM5.
PhylomeDBiQ13491.
TreeFamiTF315162.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000046653-MONOMER.

Miscellaneous databases

ChiTaRSiGPM6B. human.
GeneWikiiGPM6B.
GenomeRNAii2824.
PROiQ13491.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000046653.
CleanExiHS_GPM6B.
ExpressionAtlasiQ13491. baseline and differential.
GenevisibleiQ13491. HS.

Family and domain databases

InterProiIPR001614. Myelin_PLP.
IPR018237. Myelin_PLP_CS.
[Graphical view]
PANTHERiPTHR11683. PTHR11683. 1 hit.
PfamiPF01275. Myelin_PLP. 1 hit.
[Graphical view]
PRINTSiPR00214. MYELINPLP.
SMARTiSM00002. PLP. 1 hit.
[Graphical view]
PROSITEiPS00575. MYELIN_PLP_1. 1 hit.
PS01004. MYELIN_PLP_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGPM6B_HUMAN
AccessioniPrimary (citable) accession number: Q13491
Secondary accession number(s): O76077, Q86X43, Q8N956
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 3, 2002
Last modified: November 30, 2016
This is version 137 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.