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

Gene ID: 9774, updated on 4-May-2020

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

Genomic context

See BCLAF1 in Genome Data Viewer
Location:
6q23.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (136256627..136289851, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (136578001..136611783, 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
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
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)

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

    See identical proteins and their annotated locations for NP_001070908.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as btfS, lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
    Source sequence(s)
    AF249273, AL121713, BX107174, D79986
    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_001077441.2NP_001070909.1  bcl-2-associated transcription factor 1 isoform 3

    See identical proteins and their annotated locations for NP_001070909.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter than isoform 1.
    Source sequence(s)
    AL121713, BX107174, BX649160, D79986
    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_001301038.2NP_001287967.1  bcl-2-associated transcription factor 1 isoform 4

    See identical proteins and their annotated locations for NP_001287967.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter than isoform 1.
    Source sequence(s)
    AL121713, BC144281, BX107174, D79986
    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_001363659.2NP_001350588.1  bcl-2-associated transcription factor 1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
    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_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

    Description
    Transcript Variant: This variant (1), also known as btfL, represents the longest transcript and encodes the longest isoform (1).
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    136256627..136289851 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011532.2XP_016867021.1  bcl-2-associated transcription factor 1 isoform X5

    Conserved Domains (1) summary
    cl09653
    Location:216281
    Btz; CASC3/Barentsz eIF4AIII binding
  2. XM_017011529.2XP_016867018.1  bcl-2-associated transcription factor 1 isoform X2

  3. XM_017011530.2XP_016867019.1  bcl-2-associated transcription factor 1 isoform X3

  4. XM_017011531.2XP_016867020.1  bcl-2-associated transcription factor 1 isoform X4

RNA

  1. XR_001743770.2 RNA Sequence

  2. XR_002956319.1 RNA Sequence

  3. XR_001743768.2 RNA Sequence

  4. XR_001743771.1 RNA Sequence

  5. XR_245558.4 RNA Sequence

    Related
    ENST00000527613.5
  6. XR_001743764.2 RNA Sequence

  7. XR_001743766.2 RNA Sequence

  8. XR_001743769.2 RNA Sequence

  9. XR_245559.4 RNA Sequence

    Related
    ENST00000532384.5
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