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Aliases for GTF2A1L Gene

Aliases for GTF2A1L Gene

  • General Transcription Factor IIA Subunit 1 Like 2 3 5
  • General Transcription Factor II A, 1-Like Factor 3 4
  • ALF 3 4
  • Testis Secretory Sperm-Binding Protein Li 230m 3
  • General Transcription Factor IIA, 1-Like 2
  • General Transcription Factor IIA 1 Like 2
  • General Transcription Factor IIA 1-Like 3
  • TFIIA-Alpha And Beta-Like Factor 3
  • TFIIA Large Subunit Isoform ALF 3
  • TFIIA Alpha/Beta Like Factor 2
  • TFIIA-Alpha/Beta-Like Factor 3
  • GTF2A1-Like Factor 3
  • GTF2A1LF 4

External Ids for GTF2A1L Gene

Previous GeneCards Identifiers for GTF2A1L Gene

  • GC02P048651
  • GC02P048698
  • GC02P048844

Summaries for GTF2A1L Gene

Entrez Gene Summary for GTF2A1L Gene

  • The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]

GeneCards Summary for GTF2A1L Gene

GTF2A1L (General Transcription Factor IIA Subunit 1 Like) is a Protein Coding gene. Among its related pathways are Viral carcinogenesis and RNA Polymerase II Transcription Initiation And Promoter Clearance. GO annotations related to this gene include transcription coactivator activity. An important paralog of this gene is GTF2A1.

UniProtKB/Swiss-Prot for GTF2A1L Gene

  • May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein) and together with GTF2A2, allows mRNA transcription.

Gene Wiki entry for GTF2A1L Gene

Additional gene information for GTF2A1L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2A1L Gene

Genomics for GTF2A1L Gene

Regulatory Elements for GTF2A1L Gene

Enhancers for GTF2A1L 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
GH02H048105 1.3 Ensembl ENCODE 11.5 -510.6 -510624 2 ATF1 MLX ARNT ZFP64 ARID4B SIN3A YY1 TCF12 ZNF143 ATF7 STON1-GTF2A1L FBXO11 LOC100506235 STON1 GTF2A1L FOXN2 MSH6 PPP1R21 RNU6-282P GC02P048073
GH02H048572 0.8 ENCODE 17.5 -44.8 -44768 0 SOX13 PKNOX1 FOXA2 SAP130 NFIB ZFP64 ARID4B RAD21 TEAD3 CTBP1 STON1-GTF2A1L GTF2A1L STON1 RNU6-282P PPP1R21 GC02M048558
GH02H048584 0.6 ENCODE 18.1 -32.1 -32107 2 SMARCE1 MAX USF2 DPF2 ZBTB7B ZNF217 GATA3 CTBP1 STON1-GTF2A1L GTF2A1L STON1 RNU6-282P PPP1R21 GC02M048558
GH02H048607 0.5 ENCODE 18.2 -10.4 -10364 0 NFIC ZNF316 ZNF24 GTF2A1L STON1-GTF2A1L RNU6-282P PPP1R21 GC02M048558
GH02H048543 0.8 dbSUPER 11 -71.0 -70969 6 CTCF TFAP4 PKNOX1 RAD21 ZKSCAN1 TEAD3 SCRT2 ZNF143 CREM L3MBTL2 PPP1R21 STON1-GTF2A1L RNU6-282P GTF2A1L STON1 GC02P048542 GC02M048558
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GTF2A1L on UCSC Golden Path with GeneCards custom track

Genomic Location for GTF2A1L Gene

Chromosome:
2
Start:
48,617,780 bp from pter
End:
48,733,148 bp from pter
Size:
115,369 bases
Orientation:
Plus strand

Genomic View for GTF2A1L Gene

Genes around GTF2A1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2A1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2A1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2A1L Gene

Proteins for GTF2A1L Gene

  • Protein details for GTF2A1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNN4-TF2AY_HUMAN
    Recommended name:
    TFIIA-alpha and beta-like factor
    Protein Accession:
    Q9UNN4
    Secondary Accessions:
    • B4DY14
    • Q53FD9
    • Q5D050

    Protein attributes for GTF2A1L Gene

    Size:
    478 amino acids
    Molecular mass:
    52444 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD39617.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. The in vivo relevance of this transcript of the STON1 (AC Q9Y6Q2) and GTF2A1L genes creating a chimeric protein of 1182 residues is uncertain.; Evidence={ECO:0000305};

    Alternative splice isoforms for GTF2A1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2A1L Gene

Post-translational modifications for GTF2A1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GTF2A1L Gene

Antibody Products

  • Abcam antibodies for GTF2A1L
  • Santa Cruz Biotechnology (SCBT) Antibodies for GTF2A1L

No data available for DME Specific Peptides for GTF2A1L Gene

Domains & Families for GTF2A1L Gene

Gene Families for GTF2A1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GTF2A1L Gene

Suggested Antigen Peptide Sequences for GTF2A1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UNN4

UniProtKB/Swiss-Prot:

TF2AY_HUMAN :
  • Belongs to the TFIIA subunit 1 family.
Family:
  • Belongs to the TFIIA subunit 1 family.
genes like me logo Genes that share domains with GTF2A1L: view

Function for GTF2A1L Gene

Molecular function for GTF2A1L Gene

UniProtKB/Swiss-Prot Function:
May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein) and together with GTF2A2, allows mRNA transcription.
UniProtKB/Swiss-Prot Induction:
Down-regulated in Sertoli cell-only syndrome (SCOS) patients.

Phenotypes From GWAS Catalog for GTF2A1L Gene

Gene Ontology (GO) - Molecular Function for GTF2A1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity TAS 10364255
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with GTF2A1L: view
genes like me logo Genes that share phenotypes with GTF2A1L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GTF2A1L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GTF2A1L Gene

Localization for GTF2A1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2A1L Gene

Nucleus. Note=Mainly localizes in the annulus and partly in acrosomal cap area of spermatozoa.

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 GTF2A1L gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for GTF2A1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005672 transcription factor TFIIA complex IBA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with GTF2A1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GTF2A1L Gene

Pathways & Interactions for GTF2A1L Gene

genes like me logo Genes that share pathways with GTF2A1L: view

Pathways by source for GTF2A1L Gene

2 KEGG pathways for GTF2A1L Gene

Gene Ontology (GO) - Biological Process for GTF2A1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 10364255
GO:0006367 transcription initiation from RNA polymerase II promoter IEA --
GO:0050890 cognition IMP 23227193
genes like me logo Genes that share ontologies with GTF2A1L: view

No data available for SIGNOR curated interactions for GTF2A1L Gene

Drugs & Compounds for GTF2A1L Gene

No Compound Related Data Available

Transcripts for GTF2A1L Gene

Unigene Clusters for GTF2A1L Gene

General transcription factor IIA, 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GTF2A1L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2A1L Gene

No ASD Table

Relevant External Links for GTF2A1L Gene

GeneLoc Exon Structure for
GTF2A1L
ECgene alternative splicing isoforms for
GTF2A1L

Expression for GTF2A1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GTF2A1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GTF2A1L Gene

This gene is overexpressed in Colon - Sigmoid (x6.9), Testis (x6.0), Esophagus - Muscularis (x5.3), and Esophagus - Gastroesophageal Junction (x4.6).

Protein differential expression in normal tissues from HIPED for GTF2A1L Gene

This gene is overexpressed in Peripheral blood mononuclear cells (56.4) and Testis (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GTF2A1L Gene



Protein tissue co-expression partners for GTF2A1L Gene

NURSA nuclear receptor signaling pathways regulating expression of GTF2A1L Gene:

GTF2A1L

SOURCE GeneReport for Unigene cluster for GTF2A1L Gene:

Hs.732016

mRNA Expression by UniProt/SwissProt for GTF2A1L Gene:

Q9UNN4-TF2AY_HUMAN
Tissue specificity: Testis specific. Detected in adult testis mostly in round and elongating spermatids (at protein level). Detected in testis.

Evidence on tissue expression from TISSUES for GTF2A1L Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with GTF2A1L: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GTF2A1L Gene

Orthologs for GTF2A1L Gene

This gene was present in the common ancestor of animals.

Orthologs for GTF2A1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SALF 34
  • 100 (a)
OneToOne
GTF2A1L 33
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia GTF2A1L 33
  • 89.85 (n)
rat
(Rattus norvegicus)
Mammalia Gtf2a1l 33
  • 77.85 (n)
mouse
(Mus musculus)
Mammalia Gtf2a1l 33 16 34
  • 76.42 (n)
cow
(Bos Taurus)
Mammalia GTF2A1L 34
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2A1L 34
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves GTF2A1L 33 34
  • 65.4 (n)
lizard
(Anolis carolinensis)
Reptilia GTF2A1L 34
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2a1l 33
  • 60.22 (n)
Str.19885 33
African clawed frog
(Xenopus laevis)
Amphibia ALF 33
zebrafish
(Danio rerio)
Actinopterygii gtf2a1l 33
  • 54.52 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14067 33
worm
(Caenorhabditis elegans)
Secernentea pqn-51 34
  • 18 (a)
OneToOne
Species where no ortholog for GTF2A1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 GTF2A1L Gene

ENSEMBL:
Gene Tree for GTF2A1L (if available)
TreeFam:
Gene Tree for GTF2A1L (if available)

Paralogs for GTF2A1L Gene

Paralogs for GTF2A1L Gene

(2) SIMAP similar genes for GTF2A1L Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for GTF2A1L Gene

genes like me logo Genes that share paralogs with GTF2A1L: view

Variants for GTF2A1L Gene

Sequence variations from dbSNP and Humsavar for GTF2A1L Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000018638 -- 48,654,031(+) TATGC(C/T)TATGA intron-variant
rs1000049705 -- 48,636,847(+) ACCCT(A/G)TGATT intron-variant
rs1000059048 -- 48,617,142(+) AGGCA(C/T)TAAAC intron-variant, upstream-variant-2KB
rs1000105533 -- 48,659,086(+) TGTAC(A/G)TGACT intron-variant
rs1000114949 -- 48,621,766(+) ATATA(A/T)AAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2A1L Gene

Variant ID Type Subtype PubMed ID
dgv1121e212 CNV loss 25503493
dgv6852n54 CNV loss 21841781
dgv6853n54 CNV loss 21841781
dgv6854n54 CNV loss 21841781
dgv89n73 CNV deletion 24416366
esv24510 CNV loss 19812545
esv2676191 CNV deletion 23128226
esv2720035 CNV deletion 23290073
esv2762553 CNV gain 21179565
esv2844458 CNV deletion 24192839
esv3556332 CNV deletion 23714750
esv3590655 CNV gain 21293372
esv3590656 CNV loss 21293372
esv3590657 CNV loss 21293372
esv3590658 CNV gain 21293372
esv991713 CNV deletion 20482838
esv997251 CNV loss 20482838
nsv1002793 CNV gain 25217958
nsv2719 CNV deletion 18451855
nsv581776 CNV loss 21841781
nsv581783 CNV loss 21841781
nsv581787 CNV loss 21841781
nsv581788 CNV loss 21841781
nsv833981 CNV loss 17160897
nsv833992 CNV gain 17160897

Variation tolerance for GTF2A1L Gene

Residual Variation Intolerance Score: 27.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.01; 0.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GTF2A1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTF2A1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2A1L Gene

Disorders for GTF2A1L Gene

Relevant External Links for GTF2A1L

Genetic Association Database (GAD)
GTF2A1L
Human Genome Epidemiology (HuGE) Navigator
GTF2A1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GTF2A1L

No disorders were found for GTF2A1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GTF2A1L Gene

Publications for GTF2A1L Gene

  1. Involvement of ALF in human spermatogenesis and male infertility. (PMID: 16525715) Huang M … Sha J (International journal of molecular medicine 2006) 2 3 4 60
  2. Regulation of ALF gene expression in somatic and male germ line tissues involves partial and site-specific patterns of methylation. (PMID: 11889132) Xie W … DeJong J (The Journal of biological chemistry 2002) 2 3 22 60
  3. Identification of a general transcription factor TFIIAalpha/beta homolog selectively expressed in testis. (PMID: 10364255) Upadhyaya AB … DeJong J (The Journal of biological chemistry 1999) 2 3 4 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Regulatory factor interactions and somatic silencing of the germ cell-specific ALF gene. (PMID: 16966320) Kim M … DeJong J (The Journal of biological chemistry 2006) 3 22 60

Products for GTF2A1L Gene

Sources for GTF2A1L Gene

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