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    TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A [ Homo sapiens (human) ]

    Gene ID: 9015, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TAF1Aprovided by HGNC
    Official Full Name
    TATA-box binding protein associated factor, RNA polymerase I subunit Aprovided by HGNC
    Primary source
    HGNC:HGNC:11532
    See related
    Ensembl:ENSG00000143498 MIM:604903; AllianceGenome:HGNC:11532
    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
    SL1; RAFI48; TAFI48; MGC:17061
    Summary
    This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in testis (RPKM 2.3), lymph node (RPKM 1.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TAF1A in Genome Data Viewer
    Location:
    1q41
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (222554105..222589933, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (221788155..221823679, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (222731244..222763275, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904519 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:222699854-222700038 Neighboring gene HHIP like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2576 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:222763242-222763775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:222763776-222764308 Neighboring gene TAF1A antisense RNA 1 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:222791257-222792139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2577 Neighboring gene prefoldin subunit 5-like Neighboring gene MIA SH3 domain ER export factor 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:222816645-222817522 and GRCh37_chr1:222817523-222818398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2581 Neighboring gene axin interactor, dorsalization associated Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5183 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:222885601-222886515

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. TBP-associated factors interact with DNA and govern species specificity of RNA polymerase I transcription. Rudloff U, et al. EMBO J, 1994 Jun 1. PMID 8013460, Free PMC Article
    2. The carboxyl-terminus directs TAF(I)48 to the nucleus and nucleolus and associates with multiple nuclear import receptors. Dynes JL, et al. J Biochem, 2004 Mar. PMID 15113842
    3. Identification of a domain within human TAF(I)48, a subunit of Selectivity Factor 1, that interacts with helix 2 of TBP. Xu S, et al. Gene, 2004 Sep 1. PMID 15315821
    4. The hepatitis delta virus RNA genome interacts with the human RNA polymerases I and III. Greco-Stewart VS, et al. Virology, 2009 Mar 30. PMID 19246067
    5. TNFAIP8 regulates cisplatin resistance through TAF-Iα and promotes malignant progression of esophageal cancer. Zhang DL, et al. Eur Rev Med Pharmacol Sci, 2020 May. PMID 32432789

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TNFAIP8 regulates cisplatin resistance through TAF-Ialpha and promotes malignant progression of esophageal cancer.
      Title: TNFAIP8 regulates cisplatin resistance through TAF-Iα and promotes malignant progression of esophageal cancer.
    2. The authors demonstrate the interaction of both RNA polymerase I and III with hepatitis delta virus RNA, both in vitro and in human cells.
      Title: The hepatitis delta virus RNA genome interacts with the human RNA polymerases I and III.
    3. This study identifies the first nuclear import sequence within the TBP-Associated Factor subunits of Selectivity Factor 1.
      Title: The carboxyl-terminus directs TAF(I)48 to the nucleus and nucleolus and associates with multiple nuclear import receptors.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in transcription by RNA polymerase I IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase transcription factor SL1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    TATA box-binding protein-associated factor RNA polymerase I subunit A
    Names
    RNA polymerase I-specific TBP-associated factor 48 kDa
    SL1, 48kD subunit
    TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD
    TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa
    TATA box-binding protein-associated factor 1A
    TATA-box binding protein associated factor, RNA polymerase I, A
    TBP-associated factor 1A
    transcription factor SL1
    transcription initiation factor SL1/TIF-IB subunit A

    NCBI Reference Sequences (RefSeq)

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    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_001201536.1 → NP_001188465.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform 1

      See identical proteins and their annotated locations for NP_001188465.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Both variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AK290970, AK299536, AL592148
      Consensus CDS
      CCDS1531.1
      UniProtKB/Swiss-Prot
      B2RDZ8, D3DTB7, Q15573, Q9NWA1
      UniProtKB/TrEMBL
      A8K4K5
      Related
      ENSP00000339976.4, ENST00000350027.8
      Conserved Domains (1) summary
      pfam14929
      Location:63 → 423
      TAF1_subA; TAF RNA Polymerase I subunit A

    2. NM_005681.4 → NP_005672.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform 1

      See identical proteins and their annotated locations for NP_005672.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK299536, AL592148, BC013808, CN479053
      Consensus CDS
      CCDS1531.1
      UniProtKB/Swiss-Prot
      B2RDZ8, D3DTB7, Q15573, Q9NWA1
      UniProtKB/TrEMBL
      A8K4K5
      Related
      ENSP00000327072.6, ENST00000352967.9
      Conserved Domains (1) summary
      pfam14929
      Location:63 → 423
      TAF1_subA; TAF RNA Polymerase I subunit A

    3. NM_139352.2 → NP_647603.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform 2

      See identical proteins and their annotated locations for NP_647603.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. These differences causes translation initiation at a downstream AUG and result in isoform (2) which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK001054, AK299536, AL592148
      Consensus CDS
      CCDS1532.1
      UniProtKB/Swiss-Prot
      Q15573
      UniProtKB/TrEMBL
      B4DS21
      Related
      ENSP00000355856.1, ENST00000366890.5
      Conserved Domains (1) summary
      pfam14929
      Location:2 → 329
      TAF1_subA; TAF RNA Polymerase I subunit A

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      222554105..222589933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711612.2 → XP_006711675.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X1

      UniProtKB/TrEMBL
      A8K4K5
      Conserved Domains (1) summary
      pfam14929
      Location:8 → 405
      TAF1_subA; TAF RNA Polymerase I subunit A

    2. XM_047433596.1 → XP_047289552.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X2

    3. XM_047433593.1 → XP_047289549.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X2

    4. XM_047433599.1 → XP_047289555.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X3

      Related
      ENST00000465263.1

    5. XM_047433601.1 → XP_047289557.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X5

      Related
      ENSP00000375755.2, ENST00000391883.2

    6. XM_005273343.5 → XP_005273400.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X4

      See identical proteins and their annotated locations for XP_005273400.1

      UniProtKB/TrEMBL
      B4DS21, Q5JRA7
      Conserved Domains (1) summary
      pfam14929
      Location:8 → 303
      TAF1_subA; TAF RNA Polymerase I subunit A

    RNA

    1. XR_007064852.1 RNA Sequence

    2. XR_007064851.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      221788155..221823679 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339489.1 → XP_054195464.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X1

    2. XM_054339488.1 → XP_054195463.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X1

    3. XM_054339491.1 → XP_054195466.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X2

    4. XM_054339490.1 → XP_054195465.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X2

    5. XM_054339492.1 → XP_054195467.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X3

    6. XM_054339493.1 → XP_054195468.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X4

      UniProtKB/TrEMBL
      B4DS21

    7. XM_054339494.1 → XP_054195469.1  TATA box-binding protein-associated factor RNA polymerase I subunit A isoform X5

    RNA

    1. XR_008486202.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15573.1 GenPept UniProtKB/Swiss-Prot:Q15573

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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