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GLRA3 glycine receptor alpha 3 [ Homo sapiens (human) ]

Gene ID: 8001, updated on 10-Dec-2024

Summary

Official Symbol
GLRA3provided by HGNC
Official Full Name
glycine receptor alpha 3provided by HGNC
Primary source
HGNC:HGNC:4328
See related
Ensembl:ENSG00000145451 MIM:600421; AllianceGenome:HGNC:4328
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
Summary
This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
Expression
Biased expression in brain (RPKM 2.6), adrenal (RPKM 0.4) and 1 other tissue See more
Orthologs
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Genomic context

See GLRA3 in Genome Data Viewer
Location:
4q34.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (174636920..174829247, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (177976596..178167115, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (175558071..175750398, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377549 Neighboring gene MPRA-validated peak5150 silencer Neighboring gene uncharacterized LOC105377551 Neighboring gene Sharpr-MPRA regulatory region 9800 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:175612751-175613465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:175665327-175665908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:175699931-175700511 Neighboring gene uncharacterized LOC101928551 Neighboring gene ADAM metallopeptidase domain 29

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes.
EBI GWAS Catalog

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in dendrite  
part_of glycine-gated chloride channel complex PubMed 
located_in intracellular membrane-bounded organelle  
located_in perikaryon  
located_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in postsynaptic membrane  

General protein information

Preferred Names
glycine receptor subunit alpha-3
Names
glycine receptor, alpha-3 polypeptide
ligand gated ion channel

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_001042543.3NP_001036008.1  glycine receptor subunit alpha-3 isoform b precursor

    See identical proteins and their annotated locations for NP_001036008.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as alpha3K) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.
    Source sequence(s)
    AC107216, BC036086, U93917
    Consensus CDS
    CCDS43283.1
    UniProtKB/Swiss-Prot
    O75311
    Related
    ENSP00000345284.5, ENST00000340217.5
    Conserved Domains (1) summary
    TIGR00860
    Location:12436
    LIC; Cation transporter family protein
  2. NM_006529.4NP_006520.2  glycine receptor subunit alpha-3 isoform a precursor

    See identical proteins and their annotated locations for NP_006520.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as alpha3L) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC107216, AF018157, BC036086
    Consensus CDS
    CCDS3822.1
    UniProtKB/Swiss-Prot
    D3DP44, O75311, O75816, Q5D0E3
    Related
    ENSP00000274093.3, ENST00000274093.8
    Conserved Domains (1) summary
    TIGR00860
    Location:12451
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    174636920..174829247 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416196.1XP_047272152.1  glycine receptor subunit alpha-3 isoform X2

  2. XM_047416195.1XP_047272151.1  glycine receptor subunit alpha-3 isoform X1

  3. XM_017008630.2XP_016864119.1  glycine receptor subunit alpha-3 isoform X5

    Conserved Domains (1) summary
    TIGR00860
    Location:5411
    LIC; Cation transporter family protein
  4. XM_047416197.1XP_047272153.1  glycine receptor subunit alpha-3 isoform X3

  5. XM_011532268.3XP_011530570.1  glycine receptor subunit alpha-3 isoform X6

    UniProtKB/TrEMBL
    Q9UPF3
    Conserved Domains (2) summary
    pfam02931
    Location:158
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:65253
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  6. XM_011532267.3XP_011530569.1  glycine receptor subunit alpha-3 isoform X4

    Conserved Domains (2) summary
    pfam02931
    Location:47253
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:260309
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RNA

  1. XR_001741329.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    177976596..178167115 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350883.1XP_054206858.1  glycine receptor subunit alpha-3 isoform X2

  2. XM_054350882.1XP_054206857.1  glycine receptor subunit alpha-3 isoform X1

  3. XM_054350886.1XP_054206861.1  glycine receptor subunit alpha-3 isoform X5

  4. XM_054350884.1XP_054206859.1  glycine receptor subunit alpha-3 isoform X3

  5. XM_054350887.1XP_054206862.1  glycine receptor subunit alpha-3 isoform X6

    UniProtKB/TrEMBL
    Q9UPF3
  6. XM_054350885.1XP_054206860.1  glycine receptor subunit alpha-3 isoform X4

RNA

  1. XR_008487033.1 RNA Sequence

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