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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GTF2A1L Gene

protein-coding   GIFtS: 50
GCID: GC02P048844

General Transcription Factor IIA, 1-Like

  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 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,
Jul 2008)

GeneCards Summary for GTF2A1L Gene: 
GTF2A1L (general transcription factor IIA, 1-like) is a protein-coding gene. Diseases associated with GTF2A1L include male infertility, and conjunctivitis, and among its related super-pathways are Assembly of RNA Polymerase-II Initiation Complex. GO annotations related to this gene include transcription coactivator activity and DNA binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences 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
   Search SABiosciences Chromatin IP Primers for GTF2A1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TF2AY_HUMAN, Q9UNN4 (See protein sequence)
Recommended Name: TFIIA-alpha and beta-like factor  
Size: 478 amino acids; 52444 Da
Subcellular location: Nucleus
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 

GTF2A1L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

GTF2A1L Protein Expression

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

ENSEMBL proteins: 
 ENSP00000412645   ENSP00000396702   ENSP00000384597   ENSP00000394793   ENSP00000421474  
 ENSP00000387896  

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005672transcription factor TFIIA complex IEA--

GTF2A1L for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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


GTF2A1L 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding IEA--
GO:0003713transcription coactivator activity TAS10364255
     
GTF2A1L for ontologies           About GeneDecksing


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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

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

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



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


GTF2A1L for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GTF2A1L

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

5/43 Interacting proteins for GTF2A1L (Q9UNN43 ENSP000003845974) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
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
About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

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

GTF2A1L for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GTF2A1L (TF2AY)

Search CenterWatch for drugs/clinical trials and news about 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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GTF2A1L gene (3 alternative transcripts): 
NM_001193487.1  NM_006872.3  NM_172196.1  

Unigene Cluster for GTF2A1L:

General transcription factor IIA, 1-like
Hs.732016  [show with all ESTs]
Unigene Representative Sequence: NM_001198595
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000448460 ENST00000437125 ENST00000403751(uc002rws.2) ENST00000423675
ENST00000468326 ENST00000508440 ENST00000430487(uc010yom.2)
miRNA
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hsa-miR-590-3p hsa-miR-3670
SwitchGear 3'UTR luciferase reporter plasmidGTF2A1L 3' UTR sequence
Inhib. RNA
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Additional mRNA sequence: 

AF106857.1 AF255310.1 AK223350.1 AK302220.1 AK314464.1 AY026319.1 BC025991.1 BC064585.1 
BC121063.2 BC121064.2 CR936807.1 

8 DOTS entries:

DT.70104014  DT.207338  DT.100750090  DT.100780983  DT.100712506  DT.100764351  DT.91742445  DT.91742444 

24/139 AceView cDNA sequences (see all 139):

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

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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


See GTF2A1L Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GTF2A1L

SOURCE GeneReport for Unigene cluster: Hs.732016

UniProtKB/Swiss-Prot: TF2AY_HUMAN, Q9UNN4
Tissue specificity: Testis specific

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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)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for GTF2A1L gene from 8/16 species (see all 16)    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 64.97(n)
51.27(a)
  100534591  NM_001204866.1  NP_001191795.1 
lizard
(Anolis carolinensis)
Reptilia GTF2A16
Uncharacterized protein
32(a)
possible ortholog
1(17893254-17904674)
African clawed frog
(Xenopus laevis)
Amphibia ALF2 transcription factor ALF 75.6(n)    AY218794.1 
zebrafish
(Danio rerio)
Actinopterygii zgc:1541001 zgc:154100 53.44(n)
50(a)
  767629  NM_001076571.1  NP_001070039.1 
fruit fly
(Drosophila melanogaster)
Insecta TfIIA-L6
Transcription factor IIA L
28(a)
1 → many
3R(23076834-23082186)
worm
(Caenorhabditis elegans)
Secernentea pqn-516
Protein PQN-51
19(a)
1 → many
V(5049554-5052215)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOA16
TFIIA large subunit; involved in transcriptional a...
13(a)
1 → many
XV(711683-712543)


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)
About This Section
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

GTF2A1L for paralogs           About GeneDecksing


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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 605358    OMIM disorders: --

7 diseases for GTF2A1L:    About MalaCards
male infertility    conjunctivitis    polycystic ovary syndrome    infertility
pertussis    cholera    neuronitis

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

GTF2A1L for disorders           About GeneDecksing

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)
About This Section

PubMed articles for GTF2A1L gene, integrated from 9 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. Identification of a general transcription factor TFIIAalpha/beta homolog selectively expressed in testis. (PubMed id 10364255)1, 2, 3 Upadhyaya A.B.... DeJong J. (1999)
  2. 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. (2002)
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
  4. Involvement of ALF in human spermatogenesis and male infertility. (PubMed id 16525715)1, 3 Huang M....Sha J. (2006)
  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. (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. (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. (2002)
  8. Regulatory factor interactions and somatic silencing of the germ cell-specific ALF gene. (PubMed id 16966320)1, 9 Kim M....DeJong J. (2006)
  9. Genome-wide association study identifies susceptibili ty loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. (PubMed id 21151128)1 Chen Z.J....Zhao Y. (2011)
  10. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)

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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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for GTF2A1L Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
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Patent Information for GTF2A1L gene:
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