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GMCL1P1 Gene

pseudogene   GIFtS: 37
GCID: GC05M177611

Germ Cell-Less, Spermatogenesis Associated 1 Pseudogene...

(Previous names: germ cell-less homolog 1 (Drosophila)-like, germ cell-less...)
(Previous symbol: GMCL1L)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3.2

Aliases
Germ Cell-Less, Spermatogenesis Associated 1 Pseudogene 11 2
GMCL1L1 2 3
GCL2 3
Germ Cell-Less Homolog 1 (Drosophila) Pseudogene 11
Germ Cell-Less Homolog 1 (Drosophila)-Like1
GMCL22

External Ids:    HGNC: 197171   Entrez Gene: 643962   Ensembl: ENSG000002442347   UniProtKB: Q8NEA93   
ORGUL members:    fRNAdb10:FR243314      
RNAdb15:EVF6838    

Export aliases for GMCL1P1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GMCL1P1 Gene:
This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its
single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a
full-length germ cell-less related protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for GMCL1P1 Gene:
GMCL1P1 (germ cell-less, spermatogenesis associated 1 pseudogene 1) is a pseudogene, and is affiliated with the lncRNA class. Diseases associated with GMCL1P1 include breast and colorectal cancer, and colorectal cancer.

UniProtKB/Swiss-Prot: GMCLL_HUMAN, Q8NEA9
Function: Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53
probably by modulating the nucleocytoplasmic transport (By similarity). Probable substrate-specific adapter of an
E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of
target proteins



fRNAdb sequence ontology for GMCL1P1:
nc_conserved_region - Non-coding region of sequence similarity by descent from a common ancestor.

View fRNAdb secondary structures for GMCL1P1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_023133.14  
Regulatory elements:
   Search for regulatory transcription factor binding sites for GMCL1P1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for GMCL1P1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GMCL1P1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

GMCL1P1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GMCL1P1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M177611:  view genomic region     (about GC identifiers)

Start:
177,611,511 bp from pter      End:
177,614,433 bp from pter
Size:
2,923 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for GMCL1P1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GMCLL_HUMAN, Q8NEA9 (See protein sequence)
Recommended Name: Putative germ cell-less protein-like 1-like  
Size: 526 amino acids; 60201 Da
Subunit: Interacts with TMPO-Beta, TSG101 and TFDP2. Interacts with EMD (By similarity). Interacts with CUL3
Secondary accessions: B2RDW6 Q8TC88 Q8TC89

Explore the universe of human proteins at neXtProt for GMCL1P1: NX_Q8NEA9

Explore proteomics data for GMCL1P1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GMCL1P1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry Q8NEA9

    ProtoNet protein and cluster: Q8NEA9

    1 Blocks protein domain: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: GMCLL_HUMAN, Q8NEA9
    Similarity: Contains 1 BTB (POZ) domain


    GMCL1P1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GMCLL_HUMAN, Q8NEA9
    Function: Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53
    probably by modulating the nucleocytoplasmic transport (By similarity). Probable substrate-specific adapter of an
    E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of
    target proteins

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
         
    GMCL1P1 for ontologies           About GeneDecksing


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GMCLL_HUMAN, Q8NEA9: Nucleus matrix (By similarity)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016363nuclear matrix IEA--

    GMCL1P1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    UniProtKB/Swiss-Prot: GMCLL_HUMAN, Q8NEA9
    Pathway: Protein modification; protein ubiquitination

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GMCL1P1
    Interactions:

        Search GeneGlobe Interaction Network for GMCL1P1

    4 Interacting proteins for GMCL1P1 (Q8NEA91, 2, 3) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GAGE2DQ9UEU51, 2, 3EBI-745707,EBI-751641 MINT-68200 I2D: score=4 
    GAGE8Q9UEU51, 2, 3EBI-745707,EBI-751641 MINT-68200 I2D: score=4 
    GAGE5Q130692, 3MINT-66709 I2D: score=2 
    GAGE7O760873I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0016567protein ubiquitination IEA--
    GO:0030154cell differentiation IEA--

    GMCL1P1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GMCL1P1 (GMCLL)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    1 fRNAdb Secondary structure:


    REFSEQ mRNAs for GMCL1P1 gene: 
    NM_022471.2  

    Unigene Cluster for GMCL1P1:

    Germ cell-less, spermatogenesis associated 1 pseudogene 1
    Hs.591738  [show with all ESTs]
    Unigene Representative Sequence: BC024185
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000463439(uc003mit.1)
    miRNA
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    Additional mRNA sequence: 

    AF198534.1 AK315701.1 BC024184.2 BC024185.1 BC033886.2 NR_003281.1 

    3 DOTS entries:

    DT.95166214  DT.100784422  DT.412040 

    22 AceView cDNA sequences:

    BG722777 BU570341 BU853312 BI561102 BU569090 BC024184 BC024185 NM_022471 
    BC033886 BG771943 BG717087 BU852312 BI548572 AI217286 AF198534 BI462470 
    BI460133 BG719400 BI460871 BI464410 BI461718 BI460117 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GMCL1P1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GMCL1P1 Expression
    About this image

    GMCL1P1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GMCL1P1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591738
        Custom PCR Arrays for GMCL1P1
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    ENSEMBL Gene Tree for GMCL1P1 (if available)
    TreeFam Gene Tree for GMCL1P1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GMCL1P1 gene
    3 SIMAP similar genes for GMCL1P1 using alignment to 1 protein entry:     GMCLL_HUMAN:
    GCL    FLJ13057    GMCL1

    GMCL1P1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GMCL1P1 (see all 122)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359244
    A colorectal cancer sample4--see VAR_0359242 V A mis40--------
    rs93291341,2
    C,H--177611043(+) ACAGGC/TGTGTG 1 -- ds50018Minor allele frequency- T:0.00NA WA CSA 14
    rs93291351,2
    C,A--177611055(+) CACCAG/CGCCCG 1 -- ds50014Minor allele frequency- C:0.30NA CSA EA 244
    rs1122237911,2
    C,F--177611059(+) AGGCCC/TGGCTT 1 -- ds50012Minor allele frequency- T:0.10CSA WA 120
    rs1932887001,2
    --177611083(+) ATTTTA/TAGTAG 1 -- ds50010--------
    rs801834431,2
    C,F--177611184(+) TGTGAG/ACCACC 1 -- ds50013Minor allele frequency- A:0.28WA CSA 122
    rs615991371,2
    C--177611378(+) GAAAG-/AAAAAA 1 -- ds50012Minor allele frequency- A:0.00NA CSA 4
    rs759502321,2
    C--177611385(+) AAAAAA/TTTATT 1 -- ds50010--------
    rs49767441,2
    C,F,A,H--177611407(+) AAAGTT/GAAAAG 1 -- ds50016Minor allele frequency- G:0.26WA NA CSA EA 364
    rs1442927561,2
    C--177611439(+) GAAAG-/AAAAAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for GMCL1P1 (177611511 - 177614433 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GMCL1P1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv883194CNV Loss21882294
    nsv883193CNV Loss21882294
    nsv883190CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for GMCL1P1:    
    About MalaCards
    breast and colorectal cancer    colorectal cancer


    GMCL1P1 for disorders           About GeneDecksing


    Export disorders for GMCL1P1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GMCL1P1 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with GMCL1P1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Genetic variants of microsomal epoxide hydrolase and glutamate-cysteine ligase in COPD. (PubMed id 18614560)1 Chappell S....Kalsheker N. (Eur. Respir. J. 2008)
    3. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    4. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    5. Emergence of young human genes after a burst of retroposition in primates. (PubMed id 16201836)1 Marques A.C.... Kaessmann H. (PLoS Biol. 2005)
    6. Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry. (PubMed id 16094384)1 Tao W.A....Aebersold R. (Nat. Methods 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases. (PubMed id 14528312)2 Furukawa M.... Xiong Y. (Nat. Cell Biol. 2003)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Bruno negatively regulates germ cell-less expression in a BRE-independent manner. (PubMed id 19393317)9 Moore J....Lasko P. (Mech. Dev. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64396 HGNC: 19717 AceView: GMCL1L Ensembl:ENSG00000244234 euGenes: HUgn64396
    ECgene: GMCL1P1 H-InvDB: GMCL1P1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GMCL1P1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GMCL1P1 gene:
    Search GeneIP for patents involving GMCL1P1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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