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    STON1-GTF2A1L STON1-GTF2A1L readthrough [ Homo sapiens (human) ]

    Gene ID: 286749, updated on 17-Jun-2019

    Summary

    Official Symbol
    STON1-GTF2A1Lprovided by HGNC
    Official Full Name
    STON1-GTF2A1L readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:30651
    See related
    Ensembl:ENSG00000068781
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALF; SALF; GTF2A1L; GTF2A1LF
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 13.2), endometrium (RPKM 9.3) and 20 other tissues See more
    Orthologs

    Genomic context

    See STON1-GTF2A1L in Genome Data Viewer
    Location:
    2p16.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (48529925..48776517)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (48757064..49003656)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene forkhead box N2 Neighboring gene RNA, U4 small nuclear 49, pseudogene Neighboring gene protein phosphatase 1 regulatory subunit 21 Neighboring gene RNA, U6 small nuclear 282, pseudogene Neighboring gene stonin 1 Neighboring gene general transcription factor IIA subunit 1 like Neighboring gene tumor protein, translationally-controlled 1 pseudogene 11 Neighboring gene luteinizing hormone/choriogonadotropin receptor Neighboring gene uncharacterized LOC105374594 Neighboring gene elongin B pseudogene 3 Neighboring gene C-terminal binding protein 2 pseudogene 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    NHGRI GWA Catalog
    Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
    NHGRI GWA Catalog
    Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
    NHGRI GWA Catalog

    General gene information

    Markers

    Homology

    Clone Names

    • MGC126821, MGC126823

    General protein information

    Preferred Names
    STON1-GTF2A1L protein
    Names
    General transcription factor II A, 1-like factor
    TFIIA-alpha and beta-like factor
    stoned B/TFIIA-alpha/beta-like factor

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033050.2 RefSeqGene

      Range
      5001..251593
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198593.1NP_001185522.1  STON1-GTF2A1L protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC073082, AK309740, BG191372
      UniProtKB/Swiss-Prot
      Q9Y6Q2
      Related
      ENSP00000385701.1, ENST00000402114.6
      Conserved Domains (3) summary
      cd07976
      Location:712760
      TFIIA_alpha_beta_like; Precursor of TFIIA alpha and beta subunits and similar proteins
      cd09262
      Location:403716
      AP_stonin-1_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-1 (also called Stoned B-like factor)
      pfam03153
      Location:7141147
      TFIIA; Transcription factor IIA, alpha/beta subunit
    2. NM_001198594.1NP_001185523.1  STON1-GTF2A1L protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons, resulting in a loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1. The 5' UTR is incomplete due to a lack of 5'-complete transcript support for this variant and the presence of splicing ambiguity further upstream.
      Source sequence(s)
      AC073082, BC143520
      UniProtKB/Swiss-Prot
      Q9Y6Q2
      UniProtKB/TrEMBL
      A0A0A6YYG5
      Related
      ENSP00000378234.3, ENST00000394751.5
      Conserved Domains (3) summary
      cd07976
      Location:10781135
      TFIIA_alpha_beta_like; Precursor of TFIIA alpha and beta subunits and similar proteins
      cd09262
      Location:403716
      AP_stonin-1_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-1 (also called Stoned B-like factor)
      pfam03153
      Location:7141135
      TFIIA; Transcription factor IIA, alpha/beta subunit
    3. NM_172311.3NP_758515.1  STON1-GTF2A1L protein isoform 1

      See identical proteins and their annotated locations for NP_758515.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC073082, AF026169, BC101774
      UniProtKB/TrEMBL
      Q3MIM1, Q53S48
      Related
      ENSP00000378236.1, ENST00000394754.5
      Conserved Domains (3) summary
      cd07976
      Location:11251182
      TFIIA_alpha_beta_like; Precursor of TFIIA alpha and beta subunits and similar proteins
      cd09262
      Location:403716
      AP_stonin-1_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-1 (also called Stoned B-like factor)
      pfam03153
      Location:7141182
      TFIIA; Transcription factor IIA, alpha/beta subunit

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      48529925..48776517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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