Format

Send to:

Choose Destination

GPM6B glycoprotein M6B [ Homo sapiens (human) ]

Gene ID: 2824, updated on 5-Apr-2020

Summary

Official Symbol
GPM6Bprovided by HGNC
Official Full Name
glycoprotein M6Bprovided by HGNC
Primary source
HGNC:HGNC:4461
See related
Ensembl:ENSG00000046653 MIM:300051
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
M6B
Summary
This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions such as membrane trafficking and cell-to-cell communication. This protein may also be involved in osteoblast differentiation. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22. [provided by RefSeq, Jan 2016]
Expression
Biased expression in brain (RPKM 225.8) and prostate (RPKM 7.6) See more
Orthologs

Genomic context

See GPM6B in Genome Data Viewer
Location:
Xp22.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (13770922..13938824, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (13789062..13956861, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RAB9A, member RAS oncogene family Neighboring gene trafficking protein particle complex 2 Neighboring gene OFD1 centriole and centriolar satellite protein Neighboring gene uncharacterized LOC105373138 Neighboring gene gem nuclear organelle associated protein 8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein glycoprotein M6B (GPM6B), which co-localizes with Nef at the cellular perinuclear region and in most of the vesicular compartments PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC17150, MGC54284

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
extracellular matrix assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein localization to cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of serotonin uptake IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of serotonin uptake ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development NAS
Non-traceable Author Statement
more info
PubMed 
neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ossification IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
neuronal membrane glycoprotein M6-b
Names
protolipid M6B

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011988.1 RefSeqGene

    Range
    5075..172774
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001994.3NP_001001994.1  neuronal membrane glycoprotein M6-b isoform 4

    See identical proteins and their annotated locations for NP_001001994.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate exon structure in the 5' UTR and 5' coding region and uses an alternate splice site in the 3' terminal exon compared to variant 1. The encoded protein (isoform 4) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AC003037, CD516484, U45955
    Consensus CDS
    CCDS48084.1
    UniProtKB/Swiss-Prot
    Q13491
    Related
    ENSP00000389915.2, ENST00000454189.6
    Conserved Domains (1) summary
    pfam01275
    Location:3239
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  2. NM_001001995.3NP_001001995.1  neuronal membrane glycoprotein M6-b isoform 1

    See identical proteins and their annotated locations for NP_001001995.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (1).
    Source sequence(s)
    AA991690, AC003037, AK095657, AL119977, BC047295, BG532134, BI669888, DA191910
    Consensus CDS
    CCDS35206.1
    UniProtKB/Swiss-Prot
    Q13491
    Related
    ENSP00000316861.4, ENST00000316715.9
    Conserved Domains (1) summary
    pfam01275
    Location:62298
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  3. NM_001001996.2NP_001001996.1  neuronal membrane glycoprotein M6-b isoform 2

    See identical proteins and their annotated locations for NP_001001996.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC003037, AI375448, BC047295, DA191910
    Consensus CDS
    CCDS35207.1
    UniProtKB/Swiss-Prot
    Q13491
    UniProtKB/TrEMBL
    A0A024RBX1
    Related
    ENSP00000347258.2, ENST00000355135.6
    Conserved Domains (1) summary
    pfam01275
    Location:62298
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  4. NM_001318729.1NP_001305658.1  neuronal membrane glycoprotein M6-b isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate exon structure in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (5) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB209525, AC003037, AI375448, CD516484
    UniProtKB/TrEMBL
    Q59FD5
    Conserved Domains (1) summary
    pfam01275
    Location:3239
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  5. NM_005278.4NP_005269.1  neuronal membrane glycoprotein M6-b isoform 3

    See identical proteins and their annotated locations for NP_005269.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' coding region and uses an alternate splice site in the 3' terminal exon compared to variant 1. This results in a shorter isoform (3) with a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC003037, AI375448, BC008151, DA191910
    Consensus CDS
    CCDS14158.1
    UniProtKB/Swiss-Prot
    Q13491
    UniProtKB/TrEMBL
    A0A024RBV7
    Related
    ENSP00000349420.5, ENST00000356942.9
    Conserved Domains (1) summary
    pfam01275
    Location:22258
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    13770922..13938824 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545497.2XP_011543799.1  neuronal membrane glycoprotein M6-b isoform X3

    See identical proteins and their annotated locations for XP_011543799.1

    Conserved Domains (1) summary
    pfam01275
    Location:43279
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  2. XM_005274489.5XP_005274546.1  neuronal membrane glycoprotein M6-b isoform X1

    See identical proteins and their annotated locations for XP_005274546.1

    Conserved Domains (1) summary
    pfam01275
    Location:22258
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  3. XM_017029432.1XP_016884921.1  neuronal membrane glycoprotein M6-b isoform X2

    Conserved Domains (1) summary
    pfam01275
    Location:43279
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
Support Center