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GTF2A1L Gene

protein-coding   GIFtS: 47
GCID: GC02P048844

General Transcription Factor IIA, 1-Like

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(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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Aliases
General Transcription Factor IIA, 1-Like1 2     TFIIA Large Subunit Isoform ALF2
ALF2 3 5     TFIIA-Alpha And Beta-Like Factor2
General Transcription Factor II A, 1-Like Factor2 3     TFIIA-Alpha/Beta-Like Factor2
TFIIA Alpha/Beta Like Factor1     GTF2A1LF3
GTF2A1-Like Factor2     

External Ids:    HGNC: 307271   Entrez Gene: 110362   Ensembl: ENSG000002424417   OMIM: 6053585   UniProtKB: Q9UNN43   

Export aliases for GTF2A1L gene to outside databases

Previous GC identifers: GC02P048651 GC02P048698


(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 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, 1-like) is a protein-coding gene. GO annotations related to this gene include transcription coactivator activity. An important paralog of this gene is STON2.

UniProtKB/Swiss-Prot: TF2AY_HUMAN, Q9UNN4
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

Gene Wiki entry for GTF2A1L Gene


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the GTF2A1L gene promoter:
         p53   FOXL1   S8   POU2F1   POU2F1a   POU2F1b   Cart-1   POU2F1c   Pax-4a   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGTF2A1L promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GTF2A1L


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

Entrez Gene cytogenetic band: 2p16.3   Ensembl cytogenetic band:  2p16.3   HGNC cytogenetic band: 2p16.3

GTF2A1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GTF2A1L gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P048844:  view genomic region     (about GC identifiers)

Start:
48,844,937 bp from pter      End:
48,960,287 bp from pter
Size:
115,351 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TF2AY_HUMAN, Q9UNN4 (See protein sequence)
Recommended Name: TFIIA-alpha and beta-like factor  
Size: 478 amino acids; 52444 Da
Sequence caution: Sequence=AAD39617.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. The biological
existence and relevance of this product of both SALF (AC Q9Y6Q2) and GTF2A1LF genes, creating a chimeric protein
of 1182 residues is uncertain;
Secondary accessions: B4DY14 Q53FD9 Q5D050
Alternative splicing: 2 isoforms:  Q9UNN4-1   Q9UNN4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GTF2A1L: NX_Q9UNN4

Explore proteomics data for GTF2A1L at MOPED


See GTF2A1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001180416.1  NP_006863.2  

ENSEMBL proteins: 
 ENSP00000412645   ENSP00000396702   ENSP00000384597   ENSP00000394793   ENSP00000421474  
 ENSP00000387896  

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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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4 InterPro protein domains:
 IPR009088 TFIIA_b-brl
 IPR009083 TFIIA_a-hlx
 IPR004855 TFIIA_asu/bsu
 IPR013028 TFIIA_asu_N

Graphical View of Domain Structure for InterPro Entry Q9UNN4

ProtoNet protein and cluster: Q9UNN4

1 Blocks protein domain: IPB004855 Transcription factor IIA

UniProtKB/Swiss-Prot: TF2AY_HUMAN, Q9UNN4
Similarity: Belongs to the TFIIA subunit 1 family


Find genes that share domains with GTF2A1L           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: TF2AY_HUMAN, Q9UNN4
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
Induction: Down-regulated in Sertoli cell-only syndrome (SCOS) patients

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding IEA--
GO:0003713transcription coactivator activity TAS10364255
GO:0005515protein binding ----
     
Find genes that share ontologies with GTF2A1L           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for GTF2A1L

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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
TF2AY_HUMAN, Q9UNN4: Nucleus. Note=Mainly localizes in the annulus and partly in acrosomal cap area of
spermatozoa
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus ----
GO:0005672transcription factor TFIIA complex IEA--
GO:0005737cytoplasm IEA--

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(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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SuperPaths for GTF2A1L About    
See pathways by source

SuperPathContained pathways About
1Assembly of RNA Polymerase-II Initiation Complex
Basal transcription factors0.50
2Viral carcinogenesis
Viral carcinogenesis


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Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways




2 Kegg Pathways  (Kegg details for GTF2A1L):
    Basal transcription factors
Viral carcinogenesis

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GTF2A1L
Interactions:

    Search GeneGlobe Interaction Network for GTF2A1L

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for GTF2A1L (Q9UNN43 ENSP000003845974) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
InteractantInteraction Details
GeneCardExternal ID(s)
GTF2A2P526573, ENSP000003793724I2D: score=7 STRING: ENSP00000379372
SIX6O954753, ENSP000003285964I2D: score=2 STRING: ENSP00000328596
TBPP202263, ENSP000002303544I2D: score=2 STRING: ENSP00000230354
ASCL3Q9NQ333, ENSP000003188464I2D: score=1 STRING: ENSP00000318846
CSNK2A2P197843, ENSP000002625064I2D: score=1 STRING: ENSP00000262506
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Gene Ontology (GO): 3 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006355regulation of transcription, DNA-templated IEA--
GO:0006366transcription from RNA polymerase II promoter TAS10364255
GO:0006367transcription initiation from RNA polymerase II promoter IEA--

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(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
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Browse Tocris compounds for GTF2A1L (TF2AY)



(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for GTF2A1L gene (3 alternative transcripts): 
NM_001193487.2  NM_006872.4  NM_172196.1  

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000448460 ENST00000437125 ENST00000403751(uc002rws.2) ENST00000423675
ENST00000468326 ENST00000508440 ENST00000430487(uc010yom.2)
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Selected AceView cDNA sequences (see all 139):

AA496951 AK023617 BF792128 NM_006872 BP374692 NM_172196 CD558013 CR604481 
BC025991 CA419207 AF255310 BQ639031 AW294274 BF436701 AA366842 NM_006873 
AW068983 AW129964 CN480994 AU138011 NM_172311 BU738931 AY026319 BM676739 

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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GTF2A1L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGGTCAGAAG
GTF2A1L Expression
About this image


GTF2A1L expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Testis (Reproductive System)
         Mature Sertoli Cells Seminiferous Tubules
GTF2A1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

GTF2A1L Protein Expression

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

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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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This gene was present in the common ancestor of animals.

Orthologs for GTF2A1L gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gtf2a1l1 , 5 general transcription factor IIA, 1-like1, 5 76.42(n)1
72.86(a)1
  17 (58.22 cM)5
718281  NM_023630.21  NP_076119.21 
 886686605 
chicken
(Gallus gallus)
Aves GTF2A1L1 general transcription factor IIA, 1-like 65.4(n)
51.59(a)
  100534591  NM_001204866.1  NP_001191795.1 
lizard
(Anolis carolinensis)
Reptilia GTF2A1L6
general transcription factor IIA, 1-like
43(a)
1 ↔ 1
1(259689812-259692942)
African clawed frog
(Xenopus laevis)
Amphibia ALF2 transcription factor ALF 75.6(n)    AY218794.1 
zebrafish
(Danio rerio)
Actinopterygii gtf2a1l1 general transcription factor IIA, 1-like 54.52(n)
53.11(a)
  767629  NM_001076571.1  NP_001070039.1 
worm
(Caenorhabditis elegans)
Secernentea pqn-516
Protein PQN-51 (pqn-51) mRNA, complete cds
18(a)
1 ↔ 1
V(5049554-5052215) WBGene00004136


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for GTF2A1L gene
STON22  GTF2A12  STON12  STON1-GTF2A1L2  
2 SIMAP similar genes for GTF2A1L using alignment to 5 protein entries:     TF2AY_HUMAN (see all proteins):
ALF    STON1-GTF2A1L

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1 Pseudogenes.org Pseudogene for GTF2A1L
PGOHUM00000248888


(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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Structural Variations
     Database of Genomic Variants (DGV) 9 variations for GTF2A1L:    About this table    
Variant IDTypeSubtypePubMed ID
esv2720035CNV Deletion23290073
esv991713CNV Deletion20482838
esv2676191CNV Deletion23128226
esv24510CNV Loss19812545
nsv874004CNV Loss21882294
nsv2719CNV Loss18451855
esv997251CNV Loss20482838
nsv833981CNV Loss17160897
nsv833992CNV Gain17160897

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 605358    OMIM disorders: --

1 disease from the University of Copenhagen DISEASES database for GTF2A1L:
Male infertility

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Genetic Association Database (GAD): GTF2A1L
Human Genome Epidemiology (HuGE) Navigator: GTF2A1L (1 document)

Export disorders for GTF2A1L 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 GTF2A1L gene, integrated from 10 sources (see all 19):
(articles sorted by number of sources associating them with GTF2A1L)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Involvement of ALF in human spermatogenesis and male infertility. (PubMed id 16525715)1, 2, 3 Huang M....Sha J. (Int. J. Mol. Med. 2006)
  2. Identification of a general transcription factor TFIIAalpha/beta homolog selectively expressed in testis. (PubMed id 10364255)1, 2, 3 Upadhyaya A.B.... DeJong J. (J. Biol. Chem. 1999)
  3. Regulation of ALF gene expression in somatic and male germ line tissues involves partial and site-specific patterns of methylation. (PubMed id 11889132)1, 3, 9 Xie W....DeJong J. (J. Biol. Chem. 2002)
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  5. 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)
  6. TFIIAalpha/beta-like factor is encoded by a germ cell-specific gene whose expression is up-regulated with other general transcription factors during spermatogenesis in the mouse. (PubMed id 11159353)1, 9 Han S.... DeJong J. (Biol. Reprod. 2001)
  7. The germ cell-specific transcription factor ALF. Structural properties and stabilization of the TATA-binding protein (TBP)-DNA complex. (PubMed id 12107178)1, 9 Upadhyaya A.B....DeJong J. (J. Biol. Chem. 2002)
  8. Regulatory factor interactions and somatic silencing of the germ cell-specific ALF gene. (PubMed id 16966320)1, 9 Kim M....DeJong J. (J. Biol. Chem. 2006)
  9. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. (PubMed id 21151128)1 Chen Z.J....Zhao Y. (Nat. Genet. 2011)
  10. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (Cell 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 11036 HGNC: 30727 AceView: ALF Ensembl:ENSG00000242441 euGenes: HUgn11036
ECgene: GTF2A1L Kegg: 11036 H-InvDB: GTF2A1L

(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 GTF2A1L 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 GTF2A1L gene:
Search GeneIP for patents involving GTF2A1L

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



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