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

Gene ID: 64395, updated on 10-Dec-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: 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

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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

    UniProtKB/TrEMBL
    Q9HBV8

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

    UniProtKB/TrEMBL
    Q9HBV8

  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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