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... See more...

Aliases for GMCL1 Gene

Aliases for GMCL1 Gene

  • Germ Cell-Less 1, Spermatogenesis Associated 2 3 5
  • Germ Cell-Less Protein-Like 1 3 4
  • Spermatogenesis Associated 29 2 3
  • GCL 3 4
  • Germ Cell-Less, Spermatogenesis Associated 1 3
  • Germ Cell-Less Homolog 1 (Drosophila) 2
  • 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 1, Spermatogenesis Associated) is a Protein Coding gene. Diseases associated with GMCL1 include Lipodystrophy, Congenital Generalized, Type 4 and Aggressive Systemic Mastocytosis. An important paralog of this gene is GMCL2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
GH02J069827 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 512.3 +0.3 269 4.2 EP300 FOXK2 ZBTB40 SIN3A TCF12 NRF1 MYC POLR2G SP1 NCOR1 GMCL1 lnc-ASPRV1-4 SNRNP27 TIA1 CLEC4F PCBP1-AS1 AAK1 C2orf42 ENSG00000275381
GH02J069828 Enhancer 0.2 ENCODE 500.7 -2.0 -1982 0 GMCL1 lnc-ASPRV1-4 HSALNG0015755
GH02J069794 Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 32.7 -31.3 -31266 7 CTCF GTF2E2 PHB2 ZIC2 ZBTB11 AFF1 TARDBP REST HES1 TOE1 LOC107985770-001 SNRNP27 GMCL1 PCBP1-AS1 TIA1 ANXA4 MXD1 KY859180
GH02J069788 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 22 -39.2 -39246 3.1 TCF12 FOS RFX1 MEF2C RCOR1 TGIF2 SKI TRIM22 TEAD1 HDAC2 KY859180 SNRNP27 GMCL1 ANXA4 MXD1 LOC107985770-001
GH02J069739 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 -87.0 -87015 5.9 SIN3A NRF1 USF1 POLR2G NCOR1 GTF2E2 PHF8 ZFX CTCF ZNF10 ANXA4 GMCL1 SNRNP27 GFPT1 FAM136A RF00017-3227 ENSG00000231024 lnc-ANXA4-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GMCL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GMCL1

Top Transcription factor binding sites by QIAGEN in the GMCL1 gene promoter:
  • ATF-2
  • ATF6
  • MZF-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Pax-4a
  • RSRFC4

Genomic Locations for GMCL1 Gene

Genomic Locations for GMCL1 Gene
chr2:69,829,642-69,881,386
(GRCh38/hg38)
Size:
51,745 bases
Orientation:
Plus strand
chr2:70,056,774-70,108,528
(GRCh37/hg19)
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

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

Blocks:
  • BTB/POZ domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GMCL1 Gene

GenScript: Design optimal peptide antigens:
  • Germ cell-less protein-like 1 (GMCL1_HUMAN)
genes like me logo Genes that share domains with GMCL1: view

No data available for Graphical View of Domain Structure and 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMCL1

Clone 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 2
cytoskeleton 1
mitochondrion 1
plasma membrane 0
extracellular 0
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for GMCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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

PathCards logo

SuperPathways for GMCL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GMCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

mRNA/cDNA for GMCL1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMCL1

Clone 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

Expression for GMCL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for GMCL1 Gene



Protein tissue co-expression partners for GMCL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 94.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GMCL1 31 30
  • 92.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GMCL1 31 30
  • 92.22 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GMCL1 31
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gmcl1 17 31 30
  • 87.39 (n)
rat
(Rattus norvegicus)
Mammalia Gmcl1 30
  • 86.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 15 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GMCL1 31 30
  • 74.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GMCL1 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gmcl1 30
  • 75.38 (n)
zebrafish
(Danio rerio)
Actinopterygii gmcl1 31 30
  • 67.08 (n)
OneToOne
wufb51d08 30
fruit fly
(Drosophila melanogaster)
Insecta gcl 31 30
  • 46.54 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011686 30
  • 46.16 (n)
worm
(Caenorhabditis elegans)
Secernentea gcl-1 31 30
  • 48.57 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GMCL1: view image

Paralogs for GMCL1 Gene

Paralogs for GMCL1 Gene

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

  • GMCL1_HUMAN

Pseudogenes.org Pseudogenes for GMCL1 Gene

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

Variants for GMCL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GMCL1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
771844 Benign: not provided 69,844,206(+) T/C INTRON_VARIANT
791856 Benign: not provided 69,869,846(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GMCL1 Gene

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)

Additional Variant Information for GMCL1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GMCL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GMCL1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search GMCL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GMCL1

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

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

Publications for GMCL1 Gene

  1. 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 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 54

Products for GMCL1 Gene

Sources for GMCL1 Gene