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    GSG1L GSG1 like [ Homo sapiens (human) ]

    Gene ID: 146395, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GSG1Lprovided by HGNC
    Official Full Name
    GSG1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:28283
    See related
    Ensembl:ENSG00000169181 MIM:617161; AllianceGenome:HGNC:28283
    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
    PRO19651
    Summary
    Predicted to be involved in regulation of postsynaptic neurotransmitter receptor internalization. Predicted to act upstream of or within regulation of AMPA receptor activity. Predicted to be located in postsynaptic density. Predicted to be active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 2.2), heart (RPKM 1.7) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GSG1L in Genome Data Viewer
    Location:
    16p12.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (27787528..28063714, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (28066522..28344175, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (27798849..28075035, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene katanin interacting protein Neighboring gene uncharacterized LOC100128079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27735309-27735809 Neighboring gene uncharacterized LOC105371157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10635 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:27780758-27781957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27782794-27783559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27785796-27786296 Neighboring gene MPRA-validated peak2549 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27863495-27863996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27878335-27878836 Neighboring gene RNA, U6 small nuclear 159, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr16:27960751-27960921 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:28004462-28005661 Neighboring gene RNA, U6 small nuclear 1241, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:28030002-28031201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28037919-28038419 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:28102727-28103678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28108651-28109150 Neighboring gene uncharacterized LOC124903669 Neighboring gene TP53RK binding protein pseudogene 2 Neighboring gene exportin 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Genome-Wide Pharmacogenomic Study on Methadone Maintenance Treatment Identifies SNP rs17180299 and Multiple Haplotypes on CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of Methadone R- and S-enantiomers in Heroin-Dependent Patients. Yang HC, et al. PLoS Genet, 2016 Mar. PMID 27010727, Free PMC Article
    2. Differences in AMPA and kainate receptor interactomes facilitate identification of AMPA receptor auxiliary subunit GSG1L. Shanks NF, et al. Cell Rep, 2012 Jun 28. PMID 22813734, Free PMC Article
    3. GSG1L suppresses AMPA receptor-mediated synaptic transmission and uniquely modulates AMPA receptor kinetics in hippocampal neurons. Gu X, et al. Nat Commun, 2016 Mar 2. PMID 26932439, Free PMC Article
    4. Human ORFeome version 1.1: a platform for reverse proteomics. Rual JF, et al. Genome Res, 2004 Oct. PMID 15489335, Free PMC Article
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. gene expression experiment revealed that CYP2B6, SPON1, and GSG1L can be activated concomitantly through a constitutive androstane receptor (CAR) activation pathway
      Title: Genome-Wide Pharmacogenomic Study on Methadone Maintenance Treatment Identifies SNP rs17180299 and Multiple Haplotypes on CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of Methadone R- and S-enantiomers in Heroin-Dependent Patients.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC18079

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in postsynaptic density membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    germ cell-specific gene 1-like protein
    Names
    GSG1-like protein
    KTSR5831

    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_001109763.2 → NP_001103233.1  germ cell-specific gene 1-like protein isoform 1

      See identical proteins and their annotated locations for NP_001103233.1

      Status: VALIDATED

      Source sequence(s)
      AC008732, AC009030, AI418246, AK128775, CV024949, DB306756
      Consensus CDS
      CCDS45450.1
      UniProtKB/Swiss-Prot
      Q6UXU4, Q7Z6F8, Q8TB81
      Related
      ENSP00000394954.2, ENST00000447459.7
      Conserved Domains (2) summary
      pfam07803
      Location:24 → 132
      GSG-1; GSG1-like protein
      cl21598
      Location:102 → 235
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. NM_001323900.2 → NP_001310829.1  germ cell-specific gene 1-like protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC008732, AC009030, AC130449
      Conserved Domains (2) summary
      pfam07803
      Location:24 → 132
      GSG-1; GSG1-like protein
      cl21598
      Location:102 → 235
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    3. NM_001323901.2 → NP_001310830.1  germ cell-specific gene 1-like protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008732, AC009030, AI418246, AK128775, AY358206, BI752847, DB306756
      Consensus CDS
      CCDS81960.1
      UniProtKB/Swiss-Prot
      Q6UXU4
      UniProtKB/TrEMBL
      B3KY67
      Related
      ENSP00000379074.3, ENST00000395724.7
      Conserved Domains (1) summary
      pfam07803
      Location:24 → 132
      GSG-1; GSG1-like protein

    4. NM_144675.3 → NP_653276.1  germ cell-specific gene 1-like protein isoform 2

      See identical proteins and their annotated locations for NP_653276.1

      Status: VALIDATED

      Source sequence(s)
      AC008732, BC016460, DB306756
      Consensus CDS
      CCDS10631.1
      UniProtKB/TrEMBL
      B3KY67
      Related
      ENSP00000370282.3, ENST00000380897.7

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      27787528..28063714 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545751.3 → XP_011544053.1  germ cell-specific gene 1-like protein isoform X2

      Conserved Domains (1) summary
      pfam07803
      Location:24 → 132
      GSG-1; GSG1-like protein

    2. XM_011545750.3 → XP_011544052.1  germ cell-specific gene 1-like protein isoform X1

      Conserved Domains (2) summary
      pfam07803
      Location:24 → 132
      GSG-1; GSG1-like protein
      cl21598
      Location:102 → 235
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      28066522..28344175 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379667.1 → XP_054235642.1  germ cell-specific gene 1-like protein isoform X2

    2. XM_054379666.1 → XP_054235641.1  germ cell-specific gene 1-like protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXU4.2 GenPept UniProtKB/Swiss-Prot:Q6UXU4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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