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BCLAF1 BCL2 associated transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 9774, updated on 5-Sep-2021

Summary

Official Symbol
BCLAF1provided by HGNC
Official Full Name
BCL2 associated transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:16863
See related
Ensembl:ENSG00000029363 MIM:612588
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
BTF; bK211L9.1
Summary
This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 53.4), thyroid (RPKM 22.3) and 25 other tissues See more
Orthologs
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Genomic context

See BCLAF1 in Genome Data Viewer
Location:
6q23.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (136256627..136289846, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (136577765..136610984, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 7B Neighboring gene uncharacterized LOC644135 Neighboring gene mitochondrial fission regulator 2 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 8 Neighboring gene phosphopantothenate--cysteine ligase pseudogene Neighboring gene microtubule associated protein 7

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-06-28)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2018-06-28)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of BCL2-associated transcription factor 1 (BCLAF1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates the expression of BCL2-associated transcription factor 1 (BCLAF1) in Jurkat cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
part_of mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
bcl-2-associated transcription factor 1
Names
BCLAF1 and THRAP3 family member 1

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_001077440.3NP_001070908.1  bcl-2-associated transcription factor 1 isoform 2

    See identical proteins and their annotated locations for NP_001070908.1

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Consensus CDS
    CCDS47486.1
    UniProtKB/Swiss-Prot
    Q9NYF8
    Related
    ENSP00000229446.5, ENST00000353331.8
    Conserved Domains (1) summary
    pfam15440
    Location:155743
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
  2. NM_001077441.3NP_001070909.1  bcl-2-associated transcription factor 1 isoform 3

    See identical proteins and their annotated locations for NP_001070909.1

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Consensus CDS
    CCDS47485.1
    UniProtKB/Swiss-Prot
    Q9NYF8
    Related
    ENSP00000436501.1, ENST00000530767.5
    Conserved Domains (2) summary
    pfam15440
    Location:157572
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
    cl09653
    Location:654719
    Btz; CASC3/Barentsz eIF4AIII binding
  3. NM_001301038.3NP_001287967.1  bcl-2-associated transcription factor 1 isoform 4

    See identical proteins and their annotated locations for NP_001287967.1

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Consensus CDS
    CCDS75525.1
    UniProtKB/Swiss-Prot
    Q9NYF8
    Related
    ENSP00000434826.1, ENST00000527759.5
    Conserved Domains (2) summary
    pfam15440
    Location:155743
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
    cl09653
    Location:825890
    Btz; CASC3/Barentsz eIF4AIII binding
  4. NM_001363659.3NP_001350588.1  bcl-2-associated transcription factor 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Consensus CDS
    CCDS87444.1
    Related
    ENSP00000435441.1, ENST00000527536.5
    Conserved Domains (1) summary
    pfam15440
    Location:157746
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
  5. NM_001386693.1NP_001373622.1  bcl-2-associated transcription factor 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Conserved Domains (2) summary
    pfam15440
    Location:157744
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
    cl09653
    Location:826891
    Btz; CASC3/Barentsz eIF4AIII binding
  6. NM_001386694.1NP_001373623.1  bcl-2-associated transcription factor 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Related
    ENSP00000431734.1, ENST00000529826.5
    Conserved Domains (1) summary
    pfam15440
    Location:157744
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
  7. NM_001386695.1NP_001373624.1  bcl-2-associated transcription factor 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Conserved Domains (2) summary
    pfam15440
    Location:157571
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
    cl09653
    Location:653718
    Btz; CASC3/Barentsz eIF4AIII binding
  8. NM_001386696.1NP_001373625.1  bcl-2-associated transcription factor 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Conserved Domains (2) summary
    pfam15440
    Location:155570
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
    cl09653
    Location:652717
    Btz; CASC3/Barentsz eIF4AIII binding
  9. NM_001386697.1NP_001373626.1  bcl-2-associated transcription factor 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Conserved Domains (1) summary
    pfam15440
    Location:157572
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
  10. NM_001386698.1NP_001373627.1  bcl-2-associated transcription factor 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Conserved Domains (1) summary
    pfam15440
    Location:155570
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
  11. NM_001386699.1NP_001373628.1  bcl-2-associated transcription factor 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Conserved Domains (2) summary
    pfam15440
    Location:133293
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
    cl09653
    Location:426491
    Btz; CASC3/Barentsz eIF4AIII binding
  12. NM_001386700.1NP_001373629.1  bcl-2-associated transcription factor 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Conserved Domains (2) summary
    pfam15440
    Location:157745
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
    cl09653
    Location:827892
    Btz; CASC3/Barentsz eIF4AIII binding
  13. NM_001386701.1NP_001373630.1  bcl-2-associated transcription factor 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Conserved Domains (2) summary
    pfam15440
    Location:157745
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
    cl09653
    Location:827892
    Btz; CASC3/Barentsz eIF4AIII binding
  14. NM_001386702.1NP_001373631.1  bcl-2-associated transcription factor 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Conserved Domains (2) summary
    pfam15440
    Location:157572
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
    cl09653
    Location:654719
    Btz; CASC3/Barentsz eIF4AIII binding
  15. NM_001386703.1NP_001373632.1  bcl-2-associated transcription factor 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Conserved Domains (2) summary
    pfam15440
    Location:155570
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
    cl09653
    Location:652717
    Btz; CASC3/Barentsz eIF4AIII binding
  16. NM_001386704.1NP_001373633.1  bcl-2-associated transcription factor 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Conserved Domains (1) summary
    pfam15440
    Location:157572
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
  17. NM_014739.3NP_055554.1  bcl-2-associated transcription factor 1 isoform 1

    See identical proteins and their annotated locations for NP_055554.1

    Status: REVIEWED

    Source sequence(s)
    AL121713, BX107174, D79986
    Consensus CDS
    CCDS5177.1
    UniProtKB/Swiss-Prot
    Q9NYF8
    Related
    ENSP00000435210.1, ENST00000531224.6
    Conserved Domains (2) summary
    pfam15440
    Location:157745
    THRAP3_BCLAF1; THRAP3/BCLAF1 family
    cl09653
    Location:827892
    Btz; CASC3/Barentsz eIF4AIII binding

RNA

  1. NR_170164.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121713
  2. NR_170165.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121713
  3. NR_170166.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121713
  4. NR_170167.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121713
  5. NR_170168.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121713
  6. NR_170169.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121713
    Related
    ENST00000527613.5
  7. NR_170170.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121713

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    136256627..136289846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001743771.1 RNA Sequence

  2. XR_001743769.2 RNA Sequence

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