Human Gene STON1-GTF2A1L (ENST00000394754.5) from GENCODE V44
  Description: Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. (from RefSeq NM_172311)
RefSeq Summary (NM_172311): 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].
Gencode Transcript: ENST00000394754.5
Gencode Gene: ENSG00000068781.21
Transcript (Including UTRs)
   Position: hg38 chr2:48,569,020-48,679,603 Size: 110,584 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr2:48,580,634-48,679,442 Size: 98,809 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:48,569,020-48,679,603)mRNA (may differ from genome)Protein (1182 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIPubMed
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q53S48_HUMAN
DESCRIPTION: SubName: Full=Protein STON1-GTF2A1L; SubName: Full=Putative uncharacterized protein ALF;
SIMILARITY: Contains 1 MHD (mu homology) domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.65 RPKM in Colon - Sigmoid
Total median expression: 10.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.10114-0.273 Picture PostScript Text
3' UTR -33.60161-0.209 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008968 - Clathrin_mu_C
IPR012320 - SHD
IPR009083 - TFIIA_a-hlx
IPR004855 - TFIIA_asu/bsu
IPR013028 - TFIIA_asu_N
IPR009088 - TFIIA_b-brl

Pfam Domains:
PF00928 - Adaptor complexes medium subunit family
PF03153 - Transcription factor IIA, alpha/beta subunit

ModBase Predicted Comparative 3D Structure on Q53S48
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003713 transcription coactivator activity

Biological Process:
GO:0006366 transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006897 endocytosis
GO:0030100 regulation of endocytosis

Cellular Component:
GO:0005672 transcription factor TFIIA complex
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK309740 - Homo sapiens cDNA, FLJ99781.
AF026169 - Homo sapiens SALF (SALF) mRNA, complete cds.
BC101772 - Homo sapiens STON1-GTF2A1L readthrough transcript, mRNA (cDNA clone MGC:126821 IMAGE:8069278), complete cds.
BC101774 - Homo sapiens STON1-GTF2A1L readthrough transcript, mRNA (cDNA clone MGC:126823 IMAGE:8069280), complete cds.
BC143520 - Homo sapiens STON1-GTF2A1L readthrough transcript, mRNA (cDNA clone MGC:177046 IMAGE:9052029), complete cds.
AK302220 - Homo sapiens cDNA FLJ54202 complete cds, highly similar to TFIIA-alpha and beta-like factor.
HM005643 - Homo sapiens clone HTL-S-230m testis secretory sperm-binding protein Li 230m mRNA, complete cds.
BC025991 - Homo sapiens general transcription factor IIA, 1-like, mRNA (cDNA clone MGC:26254 IMAGE:4826221), complete cds.
AK223350 - Homo sapiens mRNA for TFIIA-alpha/beta-like factor isoform 1 variant, clone: TST06036.
AF106857 - Homo sapiens TFIIA large subunit isoform ALF (ALF) mRNA, complete cds.
CU693090 - Synthetic construct Homo sapiens gateway clone IMAGE:100019593 5' read GTF2A1L mRNA.
DQ894756 - Synthetic construct Homo sapiens clone IMAGE:100009216; FLH178175.01L; RZPDo839A03127D TFIIA-alpha/beta-like factor (ALF) gene, encodes complete protein.
KJ893209 - Synthetic construct Homo sapiens clone ccsbBroadEn_02603 GTF2A1L gene, encodes complete protein.
DQ891566 - Synthetic construct clone IMAGE:100004196; FLH178179.01X; RZPDo839A03128D TFIIA-alpha/beta-like factor (ALF) gene, encodes complete protein.
BC064585 - Homo sapiens general transcription factor IIA, 1-like, mRNA (cDNA clone IMAGE:5742182), partial cds.
AK314464 - Homo sapiens cDNA, FLJ95267, highly similar to Homo sapiens stoned B-like factor (SBLF), mRNA.
CR936807 - Homo sapiens mRNA; cDNA DKFZp781K2462 (from clone DKFZp781K2462).
JD306746 - Sequence 287770 from Patent EP1572962.
AF255310 - Homo sapiens stonin 1 mRNA, complete cds.
BC121063 - Homo sapiens stonin 1, mRNA (cDNA clone MGC:149803 IMAGE:40118538), complete cds.
BC121064 - Homo sapiens stonin 1, mRNA (cDNA clone MGC:149804 IMAGE:40118539), complete cds.
AY026319 - Homo sapiens stoned B-like factor SBLF (SBLF) mRNA, complete cds.
BC166659 - Synthetic construct Homo sapiens clone IMAGE:100066385, MGC:195522 stonin 1 (STON1) mRNA, encodes complete protein.
JD515632 - Sequence 496656 from Patent EP1572962.
JD530750 - Sequence 511774 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ALF, ENST00000394754.1, ENST00000394754.2, ENST00000394754.3, ENST00000394754.4, NM_172311, Q53S48, Q53S48_HUMAN, uc002rwp.1, uc002rwp.2, uc002rwp.3, uc002rwp.4
UCSC ID: ENST00000394754.5
RefSeq Accession: NM_172311
Protein: Q53S48 CCDS: CCDS1840.1, CCDS56118.1, CCDS56119.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.