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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

STON1-GTF2A1L Gene

protein-coding GIFtS: 38
GCID: GC02P048784

STON1-GTF2A1L readthrough

Explore 3 diseases affiliated with
STON1-GTF2A1L via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
STON1-GTF2A1L Readthrough¹ ²
SALF¹ ²
STON1-GTF2A1L Protein²
Stoned B/TFIIA-Alpha/Beta-Like Factor²
Putative Uncharacterized Protein ALF⁴

External Ids:	HGNC: 30651¹	Entrez Gene: 286749²	Ensembl: ENSG00000068781⁷	UniProtKB: Q53S48⁴

Export aliases for STON1-GTF2A1L gene to outside databases

Previous GC identifers: GC02P048650 GC02P048652 GC02P048653 GC02P048759 GC02P048762 GC02P048529 GC02P048766 GC02P048769 GC02P048775 GC02P048778

(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 STON1-GTF2A1L:

STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L

genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements,

stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants.

The significance of these read-through variants and the function of the resulting protein products have not yet been

determined. (provided by RefSeq, Oct 2010)

(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

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the STON1-GTF2A1L gene promoter:
Sox5 AML1a HNF-3beta Meis-1b HNF-1A HNF-1 Meis-1a NF-kappaB1 Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: STON1-GTF2A1L promoter sequence

Search SABiosciences Chromatin IP Primers for STON1-GTF2A1L

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STON1-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

STON1-GTF2A1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STON1-GTF2A1L gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P048784: view genomic region (about GC identifiers)

Start:	48,757,064 bp from pter	End:	49,003,638 bp from pter
Size:	246,575 bases	Orientation:	plus strand

(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/TrEMBL: Q53S48 (See protein sequence)

Recommended Name: Protein STON1-GTF2A1L

Size: 1182 amino acids; 132083 Da

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q53S48

STON1-GTF2A1L Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001185522.1 NP_001185523.1 NP_758515.1

ENSEMBL proteins:

ENSP00000385499 ENSP00000385701 ENSP00000378236 ENSP00000311493 ENSP00000378234

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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	--	--
GO:0030131	clathrin adaptor complex	--	--

STON1-GTF2A1L for ontologies About GeneDecksing

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

STON1-GTF2A1L for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR004855 TFIIA_asu/bsu

IPR009088 TFIIA_b-brl

IPR008968 Clathrin_mu_C

IPR013028 TFIIA_asu_N

IPR009083 TFIIA_a-hlx

Graphical View of Domain Structure for InterPro Entry Q53S48

ProtoNet protein and cluster: Q53S48

1 Blocks protein family: IPB004855 Transcription factor IIA

UniProtKB/TrEMBL: Q53S48

Similarity: Contains 1 MHD (mu homology) domain

(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

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In Situ Assay
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(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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for STON1-GTF2A1L

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:0006367	transcription initiation from RNA polymerase II promoter	--	--
GO:0006886	intracellular protein transport	--	--
GO:0006897	endocytosis	--	--

STON1-GTF2A1L for ontologies About GeneDecksing

(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

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Browse Tocris compounds for STON1-GTF2A1L
Search CenterWatch for drugs/clinical trials and news about STON1-GTF2A1L

(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,
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About This Section

REFSEQ mRNAs for STON1-GTF2A1L gene (3 alternative transcripts):

NM_001198593.1 NM_001198594.1 NM_172311.2

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000405008 ENST00000402114(uc021vhf.1) ENST00000394754(uc002rwp.2)

ENST00000463040 ENST00000470560 ENST00000309827(uc010yol.2) ENST00000394751

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

AK023617 AW068983 NM_172196 AA496951 NM_006873 AY026319 AA366842 BC025991

BF436701 BP374692 AF255310 BF792128 AU138011 BQ639031 AW129964 BM676739

CR604481 BU738931 NM_172311 AW294274 CA419207 CN480994 CD558013 NM_006872

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for STON1-GTF2A1L About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12
SP1:											-		-
SP2:
SP3:
SP4:							-

ECgene alternative splicing isoforms for STON1-GTF2A1L

(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

STON1-GTF2A1L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See STON1-GTF2A1L Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for STON1-GTF2A1L

SABiosciences Custom PCR Arrays for STON1-GTF2A1L

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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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for STON1-GTF2A1L gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GTF2A1L⁶	Uncharacterized protein	59(a)	1 → many	3(7540626-7569620)
lizard (Anolis carolinensis)	Reptilia	--	--	63(a)	1 → many	1(255548147-255564431)
zebrafish (Danio rerio)	Actinopterygii	zgc:154100⁶	zgc:154100	39(a)	1 → many	13(91414-100201)
fruit fly (Drosophila melanogaster)	Insecta	stnB⁶	stoned B	13(a)	1 → many	X(22382558-22406483)
worm (Caenorhabditis elegans)	Secernentea	unc-41⁶	Putative stoned B-like protein	11(a)	1 → many	V(9966380-9976202)

ENSEMBL Gene Tree for STON1-GTF2A1L (if available)
TreeFam Gene Tree for STON1-GTF2A1L (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for STON1-GTF2A1L gene

STON2² GTF2A1L² GTF2A1² STON1²

4 SIMAP similar genes for STON1-GTF2A1L using alignment to 1 protein entry: Q3MIM1_HUMAN:

ALF STON1 GTF2A1L STON2

STON1-GTF2A1L for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs187483602^1,2		--	48755101(+)	`GGTGGC/TTACCC`	1	--	us2k¹		0	--	--	--	--
rs116854880^1,2	F,	--	48755145(+)	`GACAAA/CGTTTA`	1	--	us2k¹		1		EA	120
rs55767213^1,2	C,	--	48755160(+)	`GTGCAT/CACAGA`	1	--	us2k¹		2		NA	122
rs74405654^1,2		--	48755234(+)	`GTCTCC/TAGTTA`	1	--	us2k¹		0	--	--	--	--
rs139806357^1,2		--	48755295(+)	`AAAGGC/TGGGCT`	1	--	us2k¹		0	--	--	--	--
rs6718642^1,2	C,	--	48826183(+)	`TCCAGC/TCTGGG`	3	--	int¹		5		NA WA	10
rs201642484^1,2	C	--	48826236(-)	`TATTTC/TTTTTT`	3	--	int¹		0	--	--	--	--
rs115993816^1,2	C,F,	--	48826322(+)	`TTGTCC/TACAGA`	3	--	int¹		1		WA	118
rs189841153^1,2		--	48826379(+)	`AGAATA/TAATGT`	3	--	int¹		0	--	--	--	--
rs181651868^1,2		--	48826489(+)	`GGGGAC/GAGTGG`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for STON1-GTF2A1L (48757064 - 49003638 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for STON1-GTF2A1L
6 CNVs: 39248 89631 89633 89635 67693 89634
2 Indels: 89632 78532

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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.)
About This Section

STON1-GTF2A1L for disorders About GeneDecksing

3 diseases for STON1-GTF2A1L: About MalaCards

trichomoniasis neuronitis polycystic ovary syndrome

Export disorders for STON1-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 STON1-GTF2A1L gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with STON1-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, 3, 9} Upadhyaya A.B.... DeJong J. (1999)
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, 3} Han S.... DeJong J. (2001)
Genome-wide association study identifies eight new ris k loci for polycystic ovary syndrome. (PubMed id 22885925)¹ Shi Y....Chen Z.J. (2012)
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)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)¹ Prakash T....Taylor T.D. (2010)
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. (2002)
Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery. (PubMed id 11381094)¹ Martina J.A.... Bonifacino J.S. (2001)
Human stoned B interacts with AP-2 and synaptotagmin and facilitates clathrin-coated vesicle uncoating. (PubMed id 11454741)¹ Walther K....Haucke V. (2001)
Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)¹ Harrington J.J.... Ducar M. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

Entrez Gene: 286749	HGNC: 30651	AceView: ALF	Ensembl:ENSG00000068781	euGenes: HUgn286749
ECgene: STON1-GTF2A1L	H-InvDB: STON1-GTF2A1L

(According to HUGE)
About This Section

(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 STON1-GTF2A1L	Pharmacogenomics, SNPs, Pathways

Intellectual Property for STON1-GTF2A1L gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for STON1-GTF2A1L gene:
Search GeneIP for patents involving STON1-GTF2A1L

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, 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),
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About This Section


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STON1-GTF2A1L Gene

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