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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).

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

Regulatory Elements for GMCL1 Gene

Enhancers for GMCL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G069794 1.6 Ensembl ENCODE dbSUPER 23.6 -31.3 -31267 7.0 PKNOX1 ARNT FEZF1 ZNF2 ZNF766 TBX21 MEF2D SMARCA4 GLIS1 NBN SNRNP27 GMCL1 ANXA4 MXD1 PCBP1-AS1 GC02P069822 ENSG00000231024
GH02G069788 1.4 Ensembl ENCODE dbSUPER 21.9 -39.2 -39246 3.1 TBP PKNOX1 FOXA2 WRNIP1 SIN3A BMI1 RARA YY1 ZNF143 FOS SNRNP27 GMCL1 ANXA4 MXD1 GC02P069822 ENSG00000231024
GH02G069911 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12 +85.7 85697 7.4 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SNRNP27 MXD1 ASPRV1 PCBP1-AS1 GMCL1 CLEC4F CD207 PCBP1 PIR33848
GH02G070107 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +281.2 281208 7.3 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PCBP1-AS1 C2orf42 FAM136A GMCL1 ANKRD53 LOC105374796 NAGK SNRNP27 MXD1 PCYOX1
GH02G069761 2 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -57.2 -57214 21.9 HDGF FOXA2 PKNOX1 MLX CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A SNRNP27 ANXA4 MXD1 GMCL1 PCBP1 GC02P069822 ENSG00000231024
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GMCL1 on UCSC Golden Path with GeneCards custom track

Promoters for GMCL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000118629 358 2001 HDGF HNRNPUL1 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B

Genomic Location for GMCL1 Gene

Chromosome:
2
Start:
69,829,642 bp from pter
End:
69,881,396 bp from pter
Size:
51,755 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GMCL1 Gene

Antibody Products

  • Abcam antibodies for GMCL1
  • Santa Cruz Biotechnology (SCBT) Antibodies for GMCL1

No data available for DME Specific Peptides for GMCL1 Gene

Domains & Families for GMCL1 Gene

Gene Families for GMCL1 Gene

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).

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

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,IEA --
GO:0005635 nuclear envelope IEA --
GO:0016363 nuclear matrix IEA --
genes like me logo Genes that share ontologies with GMCL1: view

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

Transcripts for GMCL1 Gene

Unigene Clusters for GMCL1 Gene

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

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 34 35
  • 94.87 (n)
cow
(Bos Taurus)
Mammalia GMCL1 34 35
  • 92.62 (n)
dog
(Canis familiaris)
Mammalia GMCL1 34 35
  • 92.22 (n)
oppossum
(Monodelphis domestica)
Mammalia GMCL1 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gmcl1 34 16 35
  • 87.39 (n)
rat
(Rattus norvegicus)
Mammalia Gmcl1 34
  • 86.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 15 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GMCL1 34 35
  • 74.2 (n)
lizard
(Anolis carolinensis)
Reptilia GMCL1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gmcl1 34
  • 75.38 (n)
zebrafish
(Danio rerio)
Actinopterygii gmcl1 34 35
  • 67.08 (n)
wufb51d08 34
fruit fly
(Drosophila melanogaster)
Insecta gcl 34 35
  • 46.54 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011686 34
  • 46.16 (n)
worm
(Caenorhabditis elegans)
Secernentea gcl-1 34 35
  • 48.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000032898 -- 69,858,687(+) GGGAC(A/C/T)TAGAA intron-variant
rs1000040630 -- 69,877,040(+) CCAGA(A/C)ATTTA intron-variant
rs1000067923 -- 69,833,439(+) GTGAA(A/C)CCCCG intron-variant
rs1000129886 -- 69,856,451(+) GCACA(G/T)TTCAA intron-variant
rs1000222953 -- 69,840,115(+) CAAAG(A/G)CAAAG intron-variant, upstream-variant-2KB

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

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

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)

Relevant External Links 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

Relevant External Links for GMCL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro. (PMID: 12493765) Holaska J.M. … Wilson K.L. (J. Biol. Chem. 2003) 3 4 64
  4. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N. … Roth F.P. (Mol. Syst. Biol. 2016) 3 64
  5. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N. … Vidal M. (Cell 2015) 3 64

Products for GMCL1 Gene

Sources for GMCL1 Gene

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