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GSG1L GSG1 like [ Homo sapiens (human) ]

Gene ID: 146395, updated on 2-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
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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 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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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)

Genotypes

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 AMPA receptor activity IEA
Inferred from Electronic Annotation
more info
  
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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