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GSG1 germ cell associated 1 [ Homo sapiens (human) ]

Gene ID: 83445, updated on 5-Mar-2024

Summary

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Official Symbol
GSG1provided by HGNC
Official Full Name
germ cell associated 1provided by HGNC
Primary source
HGNC:HGNC:19716
See related
Ensembl:ENSG00000111305 AllianceGenome:HGNC:19716
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
Summary
Predicted to enable RNA polymerase binding activity. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 69.4) See more
Orthologs
mouse all
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Genomic context

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Location:
12p13.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (13083532..13103667, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (12957742..12977872, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (13236466..13256601, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene GPRC5D and HEBP1 antisense RNA 1 Neighboring gene ribosomal protein S26 pseudogene 46 Neighboring gene family with sequence similarity 234 member B Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:13237538-13238737 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:13239727-13240549 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:13240550-13241371 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:13241372-13242194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:13242195-13243015 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:13243112-13243710 Neighboring gene uncharacterized LOC105369666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4273 Neighboring gene Sharpr-MPRA regulatory region 6445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:13277735-13278236 Neighboring gene uncharacterized LOC124902882 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:13318180-13319379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:13336996-13337496 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:13337497-13337997 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:13351700-13352200 Neighboring gene epithelial membrane protein 1

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. Mapping of six germ-cell-specific genes to mouse chromosomes. Matsui M, et al. Mamm Genome, 1997. PMID 9337410
  2. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. Oshikawa M, et al. Invest Ophthalmol Vis Sci, 2011 Aug 22. PMID 21697133
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743
  4. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

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

  • MGC3146, MGC111023

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
germ cell-specific gene 1 protein
Names
testicular secretory protein Li 20

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_001080554.4 → NP_001074023.1  germ cell-specific gene 1 protein isoform 3

    See identical proteins and their annotated locations for NP_001074023.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and includes an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AC023790, AC079628
    Consensus CDS
    CCDS44836.1
    UniProtKB/TrEMBL
    G3XAB9
    Related
    ENSP00000336857.6, ENST00000351606.10
    Conserved Domains (1) summary
    pfam07803
    Location:24 → 160
    GSG-1; GSG1-like protein

  2. NM_001080555.4 → NP_001074024.1  germ cell-specific gene 1 protein isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, includes an alternate in-frame exon in the central coding region, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (4) has distinct N- and C-termini and is longer than isoform 1.
    Source sequence(s)
    AC023790, AC079628
    UniProtKB/TrEMBL
    A0A494C0G6
    Related
    ENSP00000498528.1, ENST00000651961.1
    Conserved Domains (1) summary
    pfam07803
    Location:24 → 160
    GSG-1; GSG1-like protein

  3. NM_001206842.3 → NP_001193771.1  germ cell-specific gene 1 protein isoform 5

    See identical proteins and their annotated locations for NP_001193771.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (5) has distinct N- and C-termini and is longer than isoform 1.
    Source sequence(s)
    AC023790, AC079628
    Consensus CDS
    CCDS55808.1
    UniProtKB/Swiss-Prot
    Q2KHT4
    UniProtKB/TrEMBL
    F1T0A1
    Related
    ENSP00000405032.2, ENST00000432710.7
    Conserved Domains (1) summary
    pfam07803
    Location:24 → 137
    GSG-1; GSG1-like protein

  4. NM_001206843.3 → NP_001193772.1  germ cell-specific gene 1 protein isoform 6

    See identical proteins and their annotated locations for NP_001193772.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) includes an alternate in-frame exon in the central coding region and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (6) has a distinct C-terminus and is longer than isoform 1.
    Source sequence(s)
    AC023790
    Consensus CDS
    CCDS55807.1
    UniProtKB/Swiss-Prot
    Q2KHT4
    UniProtKB/TrEMBL
    F1T0A1
    Related
    ENSP00000441718.1, ENST00000537302.5
    Conserved Domains (1) summary
    pfam07803
    Location:11 → 147
    GSG-1; GSG1-like protein

  5. NM_001206845.3 → NP_001193774.1  germ cell-specific gene 1 protein isoform 7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) uses an alternate splice site and lacks an alternate exon, resulting in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (7) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC023790
    Consensus CDS
    CCDS55806.1
    UniProtKB/Swiss-Prot
    Q2KHT4
    UniProtKB/TrEMBL
    F1T0A1
    Related
    ENSP00000398384.2, ENST00000457134.6
    Conserved Domains (1) summary
    pfam07803
    Location:11 → 124
    GSG-1; GSG1-like protein

  6. NM_001367358.2 → NP_001354287.1  germ cell-specific gene 1 protein isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC023790, AC079628
    Conserved Domains (1) summary
    pfam07803
    Location:24 → 160
    GSG-1; GSG1-like protein

  7. NM_001367359.2 → NP_001354288.1  germ cell-specific gene 1 protein isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC023790, AC079628
    Conserved Domains (1) summary
    pfam07803
    Location:24 → 184
    GSG-1; GSG1-like protein

  8. NM_001367360.2 → NP_001354289.1  germ cell-specific gene 1 protein isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC023790, AC079628
    Conserved Domains (1) summary
    pfam07803
    Location:24 → 160
    GSG-1; GSG1-like protein

  9. NM_001367361.2 → NP_001354290.1  germ cell-specific gene 1 protein isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC023790, AC079628
    Conserved Domains (1) summary
    pfam07803
    Location:24 → 184
    GSG-1; GSG1-like protein

  10. NM_001367362.2 → NP_001354291.1  germ cell-specific gene 1 protein isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC023790, AC079628
    Conserved Domains (1) summary
    pfam07803
    Location:24 → 160
    GSG-1; GSG1-like protein

  11. NM_001367363.2 → NP_001354292.1  germ cell-specific gene 1 protein isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC023790, AC079628
    Conserved Domains (1) summary
    pfam07803
    Location:24 → 160
    GSG-1; GSG1-like protein

  12. NM_001367364.2 → NP_001354293.1  germ cell-specific gene 1 protein isoform 14

    Status: VALIDATED

    Source sequence(s)
    AC023790, AC079628
    Consensus CDS
    CCDS91657.1
    UniProtKB/TrEMBL
    F5H0V9
    Related
    ENSP00000445884.2, ENST00000545401.6
    Conserved Domains (1) summary
    pfam07803
    Location:24 → 137
    GSG-1; GSG1-like protein

  13. NM_001367366.1 → NP_001354295.1  germ cell-specific gene 1 protein isoform 15

    Status: VALIDATED

    Source sequence(s)
    AA776786, AC079628

  14. NM_001368007.2 → NP_001354936.1  germ cell-specific gene 1 protein isoform 16

    Status: VALIDATED

    Source sequence(s)
    AC023790
    UniProtKB/Swiss-Prot
    Q2KHT4, Q8N4M3, Q8NBR4, Q8NBS0, Q8NBT1, Q96LP9, Q96SI6, Q9BUY4

  15. NM_031289.5 → NP_112579.2  germ cell-specific gene 1 protein isoform 1

    See identical proteins and their annotated locations for NP_112579.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC023790
    Consensus CDS
    CCDS8659.2
    UniProtKB/TrEMBL
    F1T0A0
    Related
    ENSP00000379596.3, ENST00000396302.7
    Conserved Domains (1) summary
    pfam07803
    Location:11 → 124
    GSG-1; GSG1-like protein

  16. NM_153823.5 → NP_722545.2  germ cell-specific gene 1 protein isoform 2

    See identical proteins and their annotated locations for NP_722545.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is longer than isoform 1.
    Source sequence(s)
    AC023790
    Consensus CDS
    CCDS44835.1
    UniProtKB/TrEMBL
    F1T0A1
    Related
    ENSP00000336816.6, ENST00000337630.10
    Conserved Domains (1) summary
    pfam07803
    Location:11 → 124
    GSG-1; GSG1-like protein

RNA

  1. NR_159953.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC079628

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    13083532..13103667 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520861.3 → XP_011519163.1  germ cell-specific gene 1 protein isoform X3

    Conserved Domains (1) summary
    pfam07803
    Location:24 → 137
    GSG-1; GSG1-like protein

  2. XM_011520863.3 → XP_011519165.1  germ cell-specific gene 1 protein isoform X5

    Conserved Domains (1) summary
    pfam07803
    Location:24 → 137
    GSG-1; GSG1-like protein

  3. XM_011520862.2 → XP_011519164.1  germ cell-specific gene 1 protein isoform X4

    Conserved Domains (1) summary
    pfam07803
    Location:24 → 160
    GSG-1; GSG1-like protein

  4. XM_011520858.2 → XP_011519160.1  germ cell-specific gene 1 protein isoform X1

    Conserved Domains (1) summary
    pfam07803
    Location:24 → 184
    GSG-1; GSG1-like protein

  5. XM_011520860.2 → XP_011519162.1  germ cell-specific gene 1 protein isoform X2

    Conserved Domains (1) summary
    pfam07803
    Location:24 → 184
    GSG-1; GSG1-like protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    12957742..12977872 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373370.1 → XP_054229345.1  germ cell-specific gene 1 protein isoform X3

  2. XM_054373372.1 → XP_054229347.1  germ cell-specific gene 1 protein isoform X5

  3. XM_054373371.1 → XP_054229346.1  germ cell-specific gene 1 protein isoform X4

  4. XM_054373368.1 → XP_054229343.1  germ cell-specific gene 1 protein isoform X1

  5. XM_054373369.1 → XP_054229344.1  germ cell-specific gene 1 protein isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2KHT4.2 GenPept UniProtKB/Swiss-Prot:Q2KHT4

Gene LinkOut

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