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Aliases for GMCL1 Gene

Aliases for GMCL1 Gene

  • Germ Cell-Less, Spermatogenesis Associated 1 2 3 5
  • Spermatogenesis Associated 29 2 3
  • GCL 3 4
  • Germ Cell-Less Homolog 1 (Drosophila) 2
  • Germ Cell-Less Protein-Like 1 3
  • Germ Cell-Less Homolog 1 3
  • SPATA29 3
  • BTBD13 3
  • GCL1 3

External Ids for GMCL1 Gene

Previous GeneCards Identifiers for GMCL1 Gene

  • GC02P069969
  • GC02P070056

Summaries for GMCL1 Gene

Entrez Gene Summary for GMCL1 Gene

  • 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]

GeneCards Summary for GMCL1 Gene

GMCL1 (Germ Cell-Less, Spermatogenesis Associated 1) is a Protein Coding gene. An important paralog of this gene is BTBD16.

UniProtKB/Swiss-Prot for GMCL1 Gene

  • Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53 probably by modulating the nucleocytoplasmic transport (By similarity).

Additional gene information for GMCL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GMCL1 Gene

Genomics for GMCL1 Gene

GeneHancer (GH) Regulatory Elements for GMCL1 Gene

Promoters and enhancers for GMCL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I069827 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 562.4 -0.1 -97 3.4 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 GMCL1 SNRNP27 CLEC4F TIA1 AAK1 C2orf42 GC02P069822
GH02I069828 Enhancer 0.2 ENCODE 550.8 -2.0 -1982 0 GMCL1 GC02P069822
GH02I070080 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.3 +256.7 256749 11.6 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 MEF2D PCBP1 TIA1 PCBP1-AS1 TEX261 CLEC4F GMCL1 ANKRD53 C2orf42 MXD1 SNRNP27
GH02I070246 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.2 +418.6 418619 3.3 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 TIA1 C2orf42 TRG-CCC2-1 PCBP1-AS1 GMCL1 MPHOSPH10 CLEC4F TEX261 NAGK ANKRD53
GH02I070291 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.2 +463.6 463560 4.1 HDGF PKNOX1 CLOCK SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 SNRPG PCBP1-AS1 CLEC4F TEX261 TIA1 GMCL1 PCYOX1 C2orf42 NAGK CD207
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GMCL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GMCL1 gene promoter:

Genomic Locations for GMCL1 Gene

Genomic Locations for GMCL1 Gene
chr2:69,829,642-69,881,396
(GRCh38/hg38)
Size:
51,755 bases
Orientation:
Plus strand
chr2:70,056,774-70,108,528
(GRCh37/hg19)

Genomic View for GMCL1 Gene

Genes around GMCL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GMCL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GMCL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GMCL1 Gene

Proteins for GMCL1 Gene

  • Protein details for GMCL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96IK5-GMCL1_HUMAN
    Recommended name:
    Germ cell-less protein-like 1
    Protein Accession:
    Q96IK5
    Secondary Accessions:
    • Q9H826
    • Q9H8V7
    • Q9H927

    Protein attributes for GMCL1 Gene

    Size:
    515 amino acids
    Molecular mass:
    58685 Da
    Quaternary structure:
    • Interacts with TMPO-beta, TSG101 and TFDP2 (By similarity). Interacts with EMD.
    SequenceCaution:
    • Sequence=BAB14494.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for GMCL1 Gene

Post-translational modifications for GMCL1 Gene

No Post-translational modifications

Other Protein References for GMCL1 Gene

No data available for DME Specific Peptides for GMCL1 Gene

Domains & Families for GMCL1 Gene

Gene Families for GMCL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GMCL1 Gene

Suggested Antigen Peptide Sequences for GMCL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GMCL1: view

No data available for UniProtKB/Swiss-Prot for GMCL1 Gene

Function for GMCL1 Gene

Molecular function for GMCL1 Gene

UniProtKB/Swiss-Prot Function:
Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53 probably by modulating the nucleocytoplasmic transport (By similarity).

Phenotypes From GWAS Catalog for GMCL1 Gene

Gene Ontology (GO) - Molecular Function for GMCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
GO:0042802 identical protein binding IPI 27107012
genes like me logo Genes that share ontologies with GMCL1: view
genes like me logo Genes that share phenotypes with GMCL1: view

Animal Models for GMCL1 Gene

MGI Knock Outs for GMCL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GMCL1 Gene

Localization for GMCL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GMCL1 Gene

Nucleus matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GMCL1 gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GMCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IBA --
GO:0005634 nucleus IBA --
GO:0005635 nuclear envelope IEA --
GO:0016363 nuclear matrix IEA --
genes like me logo Genes that share ontologies with GMCL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GMCL1 Gene

Pathways & Interactions for GMCL1 Gene

SuperPathways for GMCL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GMCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with GMCL1: view

No data available for Pathways by source and SIGNOR curated interactions for GMCL1 Gene

Drugs & Compounds for GMCL1 Gene

No Compound Related Data Available

Transcripts for GMCL1 Gene

Unigene Clusters for GMCL1 Gene

Germ cell-less, spermatogenesis associated 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GMCL1 Gene

No ASD Table

Relevant External Links for GMCL1 Gene

GeneLoc Exon Structure for
GMCL1
ECgene alternative splicing isoforms for
GMCL1

Expression for GMCL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GMCL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GMCL1 Gene

This gene is overexpressed in Testis (40.2) and Placenta (28.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GMCL1 Gene



Protein tissue co-expression partners for GMCL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GMCL1 Gene:

GMCL1

SOURCE GeneReport for Unigene cluster for GMCL1 Gene:

Hs.293971

Evidence on tissue expression from TISSUES for GMCL1 Gene

  • Nervous system(2.6)
genes like me logo Genes that share expression patterns with GMCL1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GMCL1 Gene

Orthologs for GMCL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GMCL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GMCL1 33 34
  • 94.87 (n)
cow
(Bos Taurus)
Mammalia GMCL1 33 34
  • 92.62 (n)
dog
(Canis familiaris)
Mammalia GMCL1 33 34
  • 92.22 (n)
oppossum
(Monodelphis domestica)
Mammalia GMCL1 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gmcl1 33 16 34
  • 87.39 (n)
rat
(Rattus norvegicus)
Mammalia Gmcl1 33
  • 86.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 15 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GMCL1 33 34
  • 74.2 (n)
lizard
(Anolis carolinensis)
Reptilia GMCL1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gmcl1 33
  • 75.38 (n)
zebrafish
(Danio rerio)
Actinopterygii gmcl1 33 34
  • 67.08 (n)
wufb51d08 33
fruit fly
(Drosophila melanogaster)
Insecta gcl 33 34
  • 46.54 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011686 33
  • 46.16 (n)
worm
(Caenorhabditis elegans)
Secernentea gcl-1 33 34
  • 48.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToMany
Species where no ortholog for GMCL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GMCL1 Gene

ENSEMBL:
Gene Tree for GMCL1 (if available)
TreeFam:
Gene Tree for GMCL1 (if available)

Paralogs for GMCL1 Gene

Paralogs for GMCL1 Gene

(3) SIMAP similar genes for GMCL1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for GMCL1 Gene

genes like me logo Genes that share paralogs with GMCL1: view

Variants for GMCL1 Gene

Sequence variations from dbSNP and Humsavar for GMCL1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000032898 -- 69,858,687(+) C/A/T intron_variant
rs1000040630 -- 69,877,040(+) A/C intron_variant
rs1000067923 -- 69,833,439(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000129886 -- 69,856,451(+) G/T intron_variant
rs1000222953 -- 69,840,115(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GMCL1 Gene

Variant ID Type Subtype PubMed ID
nsv834254 CNV gain 17160897
dgv634n67 CNV loss 20364138

Variation tolerance for GMCL1 Gene

Residual Variation Intolerance Score: 33.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GMCL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GMCL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GMCL1 Gene

Disorders for GMCL1 Gene

Additional Disease Information for GMCL1

No disorders were found for GMCL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GMCL1 Gene

Publications for GMCL1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro. (PMID: 12493765) Holaska JM … Wilson KL (The Journal of biological chemistry 2003) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58

Products for GMCL1 Gene

Sources for GMCL1 Gene

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