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GPM6A glycoprotein M6A [ Homo sapiens (human) ]

Gene ID: 2823, updated on 6-May-2021

Summary

Official Symbol
GPM6Aprovided by HGNC
Official Full Name
glycoprotein M6Aprovided by HGNC
Primary source
HGNC:HGNC:4460
See related
Ensembl:ENSG00000150625 MIM:601275
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
M6A; GPM6
Expression
Biased expression in brain (RPKM 247.1) and lung (RPKM 8.5) See more
Orthologs
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Genomic context

See GPM6A in Genome Data Viewer
Location:
4q34.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (175632937..176002691, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (176554088..176923842, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene tRNA splicing endonuclease subunit 2 pseudogene 1 Neighboring gene ADAM metallopeptidase domain 20 pseudogene 2 Neighboring gene GPM6A divergent transcript Neighboring gene uncharacterized LOC107984113 Neighboring gene microtubule affinity regulating kinase 2 pseudogene 4 Neighboring gene WD repeat domain 17

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?

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available
Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
GeneReviews: Not available
Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.
GeneReviews: Not available
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

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 M6A (GPM6A) in cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in neural retina development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuron projection morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of synapse organization IEA
Inferred from Electronic Annotation
more info
 
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
 
involved_in stem cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in axonal growth cone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axonal growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular vesicle HDA PubMed 
is_active_in filopodium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in filopodium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 
located_in neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
neuronal membrane glycoprotein M6-a

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001261447.1NP_001248376.1  neuronal membrane glycoprotein M6-a isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks three consecutive internal exons and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AI609188, BC010461, DA507772, DA528125
    Conserved Domains (1) summary
    cl02417
    Location:94212
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  2. NM_001261448.1NP_001248377.1  neuronal membrane glycoprotein M6-a isoform 4

    See identical proteins and their annotated locations for NP_001248377.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AI609188, AK299788, BC010461, DC353381
    Consensus CDS
    CCDS58936.1
    UniProtKB/Swiss-Prot
    P51674
    Related
    ENSP00000423984.1, ENST00000515090.5
    Conserved Domains (1) summary
    pfam01275
    Location:7240
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  3. NM_001388090.1NP_001375019.1  neuronal membrane glycoprotein M6-a isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: Variants 7 and 8 encode the same isoform (5).
    Source sequence(s)
    AC093819, AC097537
    Conserved Domains (1) summary
    pfam01275
    Location:2184
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  4. NM_001388091.1NP_001375020.1  neuronal membrane glycoprotein M6-a isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: Variants 7 and 8 encode the same isoform (5).
    Source sequence(s)
    AC093819
    Conserved Domains (1) summary
    pfam01275
    Location:2184
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  5. NM_005277.5NP_005268.1  neuronal membrane glycoprotein M6-a isoform 1

    See identical proteins and their annotated locations for NP_005268.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AI609188, BC010461, DA507772, DA915764
    Consensus CDS
    CCDS3824.1
    UniProtKB/Swiss-Prot
    P51674
    Related
    ENSP00000280187.7, ENST00000280187.11
    Conserved Domains (1) summary
    pfam01275
    Location:14247
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  6. NM_201591.3NP_963885.1  neuronal membrane glycoprotein M6-a isoform 1

    See identical proteins and their annotated locations for NP_963885.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC093819, AC097537
    Consensus CDS
    CCDS3824.1
    UniProtKB/Swiss-Prot
    P51674
    Related
    ENSP00000377268.2, ENST00000393658.6
    Conserved Domains (1) summary
    pfam01275
    Location:14247
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  7. NM_201592.3NP_963886.1  neuronal membrane glycoprotein M6-a isoform 3

    See identical proteins and their annotated locations for NP_963886.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an internal exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AI609188, AK226176, BC010461, DA507772
    Consensus CDS
    CCDS54822.1
    UniProtKB/Swiss-Prot
    P51674
    Related
    ENSP00000421578.1, ENST00000506894.5
    Conserved Domains (1) summary
    pfam01275
    Location:3236
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

RNA

  1. NR_048571.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks two consecutive internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI609188, BC010461, DA507772, DA621566

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    175632937..176002691 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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