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    GMCL1 germ cell-less 1, spermatogenesis associated [ Homo sapiens (human) ]

    Gene ID: 64395, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GMCL1provided by HGNC
    Official Full Name
    germ cell-less 1, spermatogenesis associatedprovided by HGNC
    Primary source
    HGNC:HGNC:23843
    See related
    Ensembl:ENSG00000087338 MIM:618627; AllianceGenome:HGNC:23843
    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
    Also known as
    GCL; GCL1; BTBD13; SPATA29
    Summary
    This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 10.7), duodenum (RPKM 7.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GMCL1 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69829660..69881384)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69841928..69893666)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70056792..70108516)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene annexin A4 Neighboring gene SMARCA4 interacting SWI/SNF chromatin remodeling complex scaffold lncRNA Neighboring gene uncharacterized LOC124906021 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:70055828-70056749 and GRCh37_chr2:70056750-70057670 Neighboring gene ribosomal protein L23a pseudogene 92 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70120713-70121648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70121649-70122583 Neighboring gene small nucleolar RNA U13 Neighboring gene small nuclear ribonucleoprotein U4/U6.U5 subunit 27

    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. Reduced human germ cell-less (HGCL) expression in azoospermic men with severe germinal cell impairment. Kleiman SE, et al. J Androl, 2003 Sep-Oct. PMID 12954656
    2. GAGE cancer-germline antigens are recruited to the nuclear envelope by germ cell-less (GCL). Gjerstorff MF, et al. PLoS One, 2012. PMID 23029259, Free PMC Article
    3. Integration of a growth-suppressing BTB/POZ domain protein with the DP component of the E2F transcription factor. de la Luna S, et al. EMBO J, 1999 Jan 4. PMID 9878064, Free PMC Article
    4. Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro. Holaska JM, et al. J Biol Chem, 2003 Feb 28. PMID 12493765
    5. Enhanced degradation of MDM2 by a nuclear envelope component, mouse germ cell-less. Masuhara M, et al. Biochem Biophys Res Commun, 2003 Sep 5. PMID 12927808

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dual association of GAGE family members with GCL at the nuclear envelope inner membrane in cells, and with dsDNA in vitro, implicate GAGE proteins in chromatin regulation in germ cells and cancer cells.
      Title: GAGE cancer-germline antigens are recruited to the nuclear envelope by germ cell-less (GCL).
    2. Mouse GMCL1 interacts with the DP component of the E2F transcription factor.
      Title: Integration of a growth-suppressing BTB/POZ domain protein with the DP component of the E2F transcription factor.
    3. Germ cell-less protein is not essential for the chromosomal events of meiosis but might be involved in later aspects of spermatogenesis.
      Title: Reduced human germ cell-less (HGCL) expression in azoospermic men with severe germinal cell impairment.
    4. mGCL-1 is a factor modulating MDM2-p53 axis by enhanced degradation of MDM2
      Title: Enhanced degradation of MDM2 by a nuclear envelope component, mouse germ cell-less.
    5. GCL binds directly to emerin, and the emerin-repressor complexes might be regulated by barrier to autointegration factor
      Title: Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in germ cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    germ cell-less protein-like 1
    Names
    germ cell-less homolog 1
    germ cell-less, spermatogenesis associated 1
    spermatogenesis associated 29
    spermatogenesis-associated protein 29

    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_178439.5 → NP_848526.1  germ cell-less protein-like 1

      See identical proteins and their annotated locations for NP_848526.1

      Status: REVIEWED

      Source sequence(s)
      AC019206, AI093913, BC007420, BI550798
      Consensus CDS
      CCDS1895.1
      UniProtKB/Swiss-Prot
      Q96IK5, Q9H826, Q9H8V7, Q9H927
      UniProtKB/TrEMBL
      Q53SE7
      Related
      ENSP00000282570.3, ENST00000282570.4
      Conserved Domains (2) summary
      smart00875
      Location:213 → 283
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:98 → 207
      BTB; BTB/POZ domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      69829660..69881384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533033.3 → XP_011531335.1  germ cell-less protein-like 1 isoform X1

      Conserved Domains (3) summary
      smart00225
      Location:109 → 206
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:213 → 283
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:98 → 205
      BTB; BTB/POZ domain

    2. XM_011533034.3 → XP_011531336.1  germ cell-less protein-like 1 isoform X2

      UniProtKB/TrEMBL
      Q9HBV8
      Conserved Domains (1) summary
      smart00875
      Location:31 → 101
      BACK; BTB And C-terminal Kelch

    3. XM_017004705.2 → XP_016860194.1  germ cell-less protein-like 1 isoform X3

      UniProtKB/TrEMBL
      Q9HBV8

    4. XM_047445416.1 → XP_047301372.1  germ cell-less protein-like 1 isoform X4

    RNA

    1. XR_007079574.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      69841928..69893666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343375.1 → XP_054199350.1  germ cell-less protein-like 1 isoform X1

    2. XM_054343376.1 → XP_054199351.1  germ cell-less protein-like 1 isoform X2

    3. XM_054343377.1 → XP_054199352.1  germ cell-less protein-like 1 isoform X3

    4. XM_054343378.1 → XP_054199353.1  germ cell-less protein-like 1 isoform X4

    RNA

    1. XR_008486489.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96IK5.1 GenPept UniProtKB/Swiss-Prot:Q96IK5

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