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GTF2A1L general transcription factor IIA subunit 1 like [ Homo sapiens (human) ]

Gene ID: 11036, updated on 5-Sep-2020

Summary

Official Symbol
GTF2A1Lprovided by HGNC
Official Full Name
general transcription factor IIA subunit 1 likeprovided by HGNC
Primary source
HGNC:HGNC:30727
See related
Ensembl:ENSG00000242441 MIM:605358
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
Summary
The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (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, Mar 2014]
Expression
Biased expression in testis (RPKM 30.5), endometrium (RPKM 1.9) and 1 other tissue See more
Orthologs

Genomic context

See GTF2A1L in Genome Data Viewer
Location:
2p16.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (48617856..48679604)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (48844937..49003645)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 21 Neighboring gene RNA, U6 small nuclear 282, pseudogene Neighboring gene STON1-GTF2A1L readthrough Neighboring gene stonin 1 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

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough STON1-GTF2A1L

Readthrough gene: STON1-GTF2A1L, Included gene: STON1

Homology

Clone Names

  • MGC26254

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription initiation from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
transcription factor TFIIA complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
TFIIA-alpha and beta-like factor
Names
GTF2A1-like factor
TFIIA-alpha/beta-like factor
general transcription factor II A, 1-like factor
general transcription factor IIA 1-like
testis secretory sperm-binding protein Li 230m

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.

mRNA and Protein(s)

  1. NM_001193487.3NP_001180416.1  TFIIA-alpha and beta-like factor isoform 2

    See identical proteins and their annotated locations for NP_001180416.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK302220, BG207854
    Consensus CDS
    CCDS54359.1
    UniProtKB/Swiss-Prot
    Q9UNN4
    Related
    ENSP00000387896.2, ENST00000430487.6
    Conserved Domains (2) summary
    cd07976
    Location:387444
    TFIIA_alpha_beta_like; Precursor of TFIIA alpha and beta subunits and similar proteins
    pfam03153
    Location:8444
    TFIIA; Transcription factor IIA, alpha/beta subunit
  2. NM_006872.5NP_006863.2  TFIIA-alpha and beta-like factor isoform 1

    See identical proteins and their annotated locations for NP_006863.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC025991, BG207854
    Consensus CDS
    CCDS46281.1
    UniProtKB/Swiss-Prot
    Q9UNN4
    UniProtKB/TrEMBL
    A0A140VKA3
    Related
    ENSP00000384597.3, ENST00000403751.8
    Conserved Domains (1) summary
    pfam03153
    Location:10478
    TFIIA; Transcription factor IIA, alpha/beta subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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
    48617856..48679604
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172196.1: Suppressed sequence

    Description
    NM_172196.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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