GTF2A1L Gene
protein-coding GIFtS: 50
GCID: GC02P048844
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|
general transcription factor IIA, 1-like
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Aliases
for GTF2A1L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| General Transcription Factor IIA, 1-Like1 2 | | TFIIA Large Subunit Isoform ALF2 | | ALF1 2 3 5 | | TFIIA-Alpha And Beta-Like Factor2 | | General Transcription Factor II A, 1-Like Factor2 3 | | TFIIA-Alpha/Beta-Like Factor2 | | GTF2A1-Like Factor2 | | GTF2A1LF3 |
Export aliases for GTF2A1L gene to outside databasesPrevious GC identifers: GC02P048651 GC02P048698 |
Summaries
for GTF2A1L gene(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:
The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoterinvolve the effects of TFIIA on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germcell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able tostabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for thislocus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of thisgene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised ofsequence sharing identity with each individual gene product. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: TF2AY_HUMAN, Q9UNN4Function: May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (theTATA-binding protein) and together with GTF2A2, allows mRNA transcription
Gene Wiki entry for GTF2A1L
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022184.15
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
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: 2p16.3GTF2A1L Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
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Proteins
for GTF2A1L gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 andrelevance of this product of both SALF (AC Q9Y6Q2) and GTF2A1LF genes, creating a chimeric protein of 1182 residues isuncertain;
Secondary accessions: B4DY14 Q53FD9 Q5D050Alternative splicing: 2 isoforms: Q9UNN4-1 Q9UNN4-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for GTF2A1L: NX_Q9UNN4
GTF2A1L Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001180416.1 NP_006863.2
ENSEMBL proteins: ENSP00000412645 ENSP00000396702 ENSP00000384597 ENSP00000394793 ENSP00000421474 ENSP00000387896
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005672 | transcription factor TFIIA complex |
IEA | -- | | GO:0005737 | cytoplasm |
-- | -- |
GTF2A1L for ontologies About GeneDecksing
GTF2A1L Antibody Products:
Assay Products for GTF2A1L: |
Protein
Domains /
Families
for GTF2A1L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GTF2A1L for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UNN4ProtoNet protein and cluster: Q9UNN4 1 Blocks protein family: IPB004855 Transcription factor IIA
UniProtKB/Swiss-Prot: TF2AY_HUMAN, Q9UNN4Similarity: Belongs to the TFIIA subunit 1 family |
Function
for GTF2A1L gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: TF2AY_HUMAN, Q9UNN4Function: May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (theTATA-binding protein) and together with GTF2A2, allows mRNA transcription
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GTF2A1L (see all 2)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2A1L |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
GTF2A1L for ontologies About GeneDecksing
|
Pathways & Interactions
for GTF2A1L gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Assembly of RNA Polymerase-II Initiation Complex | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for GTF2A1L):
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)
5/42 Interacting proteins for GTF2A1L (Q9UNN43 ENSP000003845974) via UniProtKB, MINT, STRING, and/or I2D (see all 42)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- | | GO:0006366 | transcription from RNA polymerase II promoter |
TAS | 10364255 | | GO:0006367 | transcription initiation from RNA polymerase II promoter |
IEA | -- |
GTF2A1L for ontologies About GeneDecksing
|
Drugs & Compounds
for GTF2A1L gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for GTF2A1L
Search CenterWatch for drugs/clinical trials and news about GTF2A1L / TF2AY
|
Transcripts
for GTF2A1L gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
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_0011985957 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000448460 ENST00000437125 ENST00000403751(uc002rws.2) ENST00000423675
ENST00000468326 ENST00000508440 ENST00000430487(uc010yom.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GTF2A1L (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GTF2A1L (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): GTF2A1L (NM_006872) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GTF2A1L | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GTF2A1L |
Additional cDNA 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): BF792128 AU138011 AA496951 AF255310 NM_006872 AK023617 AY026319 BC025991 BF436701 CA419207 BU738931 CN480994 AW294274 NM_172311 BM676739 AW068983 CD558013 CR604481 AW129964 NM_172196 NM_006873 BQ639031 AA366842 BP374692
GeneLoc Exon Structure
|
Expression
for GTF2A1L gene
(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
CGAP TAG: AGGTCAGAAG
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, Q9UNN4Tissue specificity: Testis specific
SABiosciences Custom PCR Arrays for GTF2A1L
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GTF2A1L
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat GTF2A1L | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GTF2A1L | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GTF2A1L | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2A1L |
Orthologs
for GTF2A1L gene
(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 eukaryotes.
Orthologs for GTF2A1L gene from 8/22 species (see all 22) About this table
ENSEMBL Gene Tree for GTF2A1L (if available)
TreeFam Gene Tree for GTF2A1L (if available) |
Paralogs
for GTF2A1L gene(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
|
Genomic Variants
for GTF2A1L gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GTF2A1L (48844937 - 48960287 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 9 variations for GTF2A1L
7 CNVs: 39248 89631 89633 89635 67693 89634 9409
2 Indels: 89632 78532 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GTF2A1L |
|
Disorders
/ Diseases
for GTF2A1L gene
(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.)
About This Section
|
GTF2A1L for disorders About GeneDecksing
OMIM gene information: 605358
OMIM disorders: --
7  diseases for GTF2A1L: About MalaCardspolycystic ovary syndrome male infertility infertility conjunctivitis
cholera pertussis neuronitis
1 disease from the University of Copenhagen DISEASES database for GTF2A1L:Male infertility Human Genome Epidemiology (HuGE) Navigator: GTF2A1L (1 document)
Export disorders for GTF2A1L gene to outside databases
|
Publications
for GTF2A1L gene (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 |
- 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)
- 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)
- Involvement of ALF in human spermatogenesis and male infertility. (PubMed id 16525715)1, 3 Huang M....Sha J. (2006)
- 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)
- 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)
- 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)
- Regulatory factor interactions and somatic silencing of the germ cell-specific ALF gene. (PubMed id 16966320)1, 9 Kim M....DeJong J. (2006)
- 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)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
|
External Searches for GTF2A1L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GTF2A1L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GTF2A1L gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GTF2A1L gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for GTF2A1L | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for GTF2A1L gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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