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BCLAF3 BCLAF1 and THRAP3 family member 3 [ Homo sapiens (human) ]

Gene ID: 256643, updated on 5-Mar-2024

Summary

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Official Symbol
BCLAF3provided by HGNC
Official Full Name
BCLAF1 and THRAP3 family member 3provided by HGNC
Primary source
HGNC:HGNC:27413
See related
Ensembl:ENSG00000173681 AllianceGenome:HGNC:27413
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CXorf23
Summary
Predicted to enable DNA binding activity and transcription coregulator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in mitochondrion. Predicted to be part of mediator complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in colon (RPKM 2.2), prostate (RPKM 2.2) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See BCLAF3 in Genome Data Viewer
Location:
Xp22.12
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (19912860..19991061, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (19495763..19573959, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (19930978..20009179, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 15 Neighboring gene eukaryotic translation initiation factor 5 pseudogene 2 Neighboring gene SH3 domain containing kinase binding protein 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:19643274-19644473 Neighboring gene uncharacterized LOC124905255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:19740595-19741095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:19820680-19821600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29472 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:19880674-19881280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29476 Neighboring gene uncharacterized LOC124905256 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:20001035-20001226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20695 Neighboring gene uncharacterized LOC729609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29477 Neighboring gene MAP7 domain containing 2 Neighboring gene microRNA 23c Neighboring gene small Cajal body-specific RNA 9 like Neighboring gene eukaryotic translation initiation factor 1A X-linked

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. Systematic analysis of human protein complexes identifies chromosome segregation proteins. Hutchins JR, et al. Science, 2010 Apr 30. PMID 20360068, Free PMC Article
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Hein MY, et al. Cell, 2015 Oct 22. PMID 26496610
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Genotypes

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
BCLAF1 and THRAP3 family member 3
Names
uncharacterized protein CXorf23

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.

Genomic

  1. NG_021326.2 RefSeqGene

    Range
    5000..83201
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001367774.2 → NP_001354703.1  BCLAF1 and THRAP3 family member 3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL732366, AL772197
    Consensus CDS
    CCDS94576.1
    UniProtKB/Swiss-Prot
    A1A4E8, A2AJT9, Q5VSM7, Q5VSN1, Q6ZS60, Q8N1W7
    Related
    ENSP00000369004.4, ENST00000379682.9

  2. NM_198279.4 → NP_938020.2  BCLAF1 and THRAP3 family member 3 isoform 1

    See identical proteins and their annotated locations for NP_938020.2

    Status: VALIDATED

    Source sequence(s)
    AL732366, AL772197
    Consensus CDS
    CCDS14194.2
    UniProtKB/Swiss-Prot
    A2AJT9
    Related
    ENSP00000369009.3, ENST00000379687.8
    Conserved Domains (1) summary
    pfam15440
    Location:12 → 596
    THRAP3_BCLAF1; THRAP3/BCLAF1 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    19912860..19991061 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441965.1 → XP_047297921.1  BCLAF1 and THRAP3 family member 3 isoform X2

  2. XM_011545476.3 → XP_011543778.1  BCLAF1 and THRAP3 family member 3 isoform X1

    See identical proteins and their annotated locations for XP_011543778.1

    UniProtKB/Swiss-Prot
    A1A4E8, A2AJT9, Q5VSM7, Q5VSN1, Q6ZS60, Q8N1W7
    Conserved Domains (1) summary
    pfam15440
    Location:12 → 613
    THRAP3_BCLAF1; THRAP3/BCLAF1 family

  3. XM_047441966.1 → XP_047297922.1  BCLAF1 and THRAP3 family member 3 isoform X2

  4. XM_047441972.1 → XP_047297928.1  BCLAF1 and THRAP3 family member 3 isoform X5

  5. XM_047441967.1 → XP_047297923.1  BCLAF1 and THRAP3 family member 3 isoform X3

  6. XM_047441970.1 → XP_047297926.1  BCLAF1 and THRAP3 family member 3 isoform X3

  7. XM_047441974.1 → XP_047297930.1  BCLAF1 and THRAP3 family member 3 isoform X8

  8. XM_047441973.1 → XP_047297929.1  BCLAF1 and THRAP3 family member 3 isoform X5

  9. XM_011545477.3 → XP_011543779.1  BCLAF1 and THRAP3 family member 3 isoform X3

    See identical proteins and their annotated locations for XP_011543779.1

    UniProtKB/Swiss-Prot
    A2AJT9
    Conserved Domains (1) summary
    pfam15440
    Location:12 → 596
    THRAP3_BCLAF1; THRAP3/BCLAF1 family

  10. XM_047441968.1 → XP_047297924.1  BCLAF1 and THRAP3 family member 3 isoform X3

  11. XM_047441969.1 → XP_047297925.1  BCLAF1 and THRAP3 family member 3 isoform X3

  12. XM_047441963.1 → XP_047297919.1  BCLAF1 and THRAP3 family member 3 isoform X1

    UniProtKB/Swiss-Prot
    A1A4E8, A2AJT9, Q5VSM7, Q5VSN1, Q6ZS60, Q8N1W7

  13. XM_047441964.1 → XP_047297920.1  BCLAF1 and THRAP3 family member 3 isoform X1

    UniProtKB/Swiss-Prot
    A1A4E8, A2AJT9, Q5VSM7, Q5VSN1, Q6ZS60, Q8N1W7

  14. XM_047441971.1 → XP_047297927.1  BCLAF1 and THRAP3 family member 3 isoform X5

  15. XM_047441979.1 → XP_047297935.1  BCLAF1 and THRAP3 family member 3 isoform X14

  16. XM_017029391.1 → XP_016884880.1  BCLAF1 and THRAP3 family member 3 isoform X6

  17. XM_047441975.1 → XP_047297931.1  BCLAF1 and THRAP3 family member 3 isoform X9

  18. XM_011545478.2 → XP_011543780.1  BCLAF1 and THRAP3 family member 3 isoform X7

    Conserved Domains (1) summary
    pfam15440
    Location:12 → 613
    THRAP3_BCLAF1; THRAP3/BCLAF1 family

  19. XM_005274475.4 → XP_005274532.1  BCLAF1 and THRAP3 family member 3 isoform X4

    Conserved Domains (1) summary
    pfam15440
    Location:12 → 613
    THRAP3_BCLAF1; THRAP3/BCLAF1 family

  20. XM_005274473.4 → XP_005274530.1  BCLAF1 and THRAP3 family member 3 isoform X1

    See identical proteins and their annotated locations for XP_005274530.1

    UniProtKB/Swiss-Prot
    A1A4E8, A2AJT9, Q5VSM7, Q5VSN1, Q6ZS60, Q8N1W7
    Conserved Domains (1) summary
    pfam15440
    Location:12 → 613
    THRAP3_BCLAF1; THRAP3/BCLAF1 family

  21. XM_047441962.1 → XP_047297918.1  BCLAF1 and THRAP3 family member 3 isoform X1

    UniProtKB/Swiss-Prot
    A1A4E8, A2AJT9, Q5VSM7, Q5VSN1, Q6ZS60, Q8N1W7

  22. XM_047441982.1 → XP_047297938.1  BCLAF1 and THRAP3 family member 3 isoform X17

  23. XM_047441981.1 → XP_047297937.1  BCLAF1 and THRAP3 family member 3 isoform X16

  24. XM_047441978.1 → XP_047297934.1  BCLAF1 and THRAP3 family member 3 isoform X13

  25. XM_047441976.1 → XP_047297932.1  BCLAF1 and THRAP3 family member 3 isoform X10

  26. XM_017029390.1 → XP_016884879.1  BCLAF1 and THRAP3 family member 3 isoform X5

  27. XM_047441977.1 → XP_047297933.1  BCLAF1 and THRAP3 family member 3 isoform X11

  28. XM_011545482.3 → XP_011543784.1  BCLAF1 and THRAP3 family member 3 isoform X12

    Conserved Domains (1) summary
    pfam15440
    Location:12 → 591
    THRAP3_BCLAF1; THRAP3/BCLAF1 family

  29. XM_047441980.1 → XP_047297936.1  BCLAF1 and THRAP3 family member 3 isoform X15

  30. XM_017029392.2 → XP_016884881.1  BCLAF1 and THRAP3 family member 3 isoform X18

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    19495763..19573959 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326773.1 → XP_054182748.1  BCLAF1 and THRAP3 family member 3 isoform X2

  2. XM_054326768.1 → XP_054182743.1  BCLAF1 and THRAP3 family member 3 isoform X1

    UniProtKB/Swiss-Prot
    A1A4E8, A2AJT9, Q5VSM7, Q5VSN1, Q6ZS60, Q8N1W7

  3. XM_054326774.1 → XP_054182749.1  BCLAF1 and THRAP3 family member 3 isoform X2

  4. XM_054326783.1 → XP_054182758.1  BCLAF1 and THRAP3 family member 3 isoform X5

  5. XM_054326776.1 → XP_054182751.1  BCLAF1 and THRAP3 family member 3 isoform X3

  6. XM_054326779.1 → XP_054182754.1  BCLAF1 and THRAP3 family member 3 isoform X3

  7. XM_054326787.1 → XP_054182762.1  BCLAF1 and THRAP3 family member 3 isoform X8

  8. XM_054326784.1 → XP_054182759.1  BCLAF1 and THRAP3 family member 3 isoform X5

  9. XM_054326775.1 → XP_054182750.1  BCLAF1 and THRAP3 family member 3 isoform X3

  10. XM_054326777.1 → XP_054182752.1  BCLAF1 and THRAP3 family member 3 isoform X3

  11. XM_054326778.1 → XP_054182753.1  BCLAF1 and THRAP3 family member 3 isoform X3

  12. XM_054326771.1 → XP_054182746.1  BCLAF1 and THRAP3 family member 3 isoform X1

    UniProtKB/Swiss-Prot
    A1A4E8, A2AJT9, Q5VSM7, Q5VSN1, Q6ZS60, Q8N1W7

  13. XM_054326772.1 → XP_054182747.1  BCLAF1 and THRAP3 family member 3 isoform X1

    UniProtKB/Swiss-Prot
    A1A4E8, A2AJT9, Q5VSM7, Q5VSN1, Q6ZS60, Q8N1W7

  14. XM_054326782.1 → XP_054182757.1  BCLAF1 and THRAP3 family member 3 isoform X5

  15. XM_054326793.1 → XP_054182768.1  BCLAF1 and THRAP3 family member 3 isoform X14

  16. XM_054326785.1 → XP_054182760.1  BCLAF1 and THRAP3 family member 3 isoform X6

  17. XM_054326788.1 → XP_054182763.1  BCLAF1 and THRAP3 family member 3 isoform X9

  18. XM_054326786.1 → XP_054182761.1  BCLAF1 and THRAP3 family member 3 isoform X7

  19. XM_054326780.1 → XP_054182755.1  BCLAF1 and THRAP3 family member 3 isoform X4

  20. XM_054326769.1 → XP_054182744.1  BCLAF1 and THRAP3 family member 3 isoform X1

    UniProtKB/Swiss-Prot
    A1A4E8, A2AJT9, Q5VSM7, Q5VSN1, Q6ZS60, Q8N1W7

  21. XM_054326770.1 → XP_054182745.1  BCLAF1 and THRAP3 family member 3 isoform X1

    UniProtKB/Swiss-Prot
    A1A4E8, A2AJT9, Q5VSM7, Q5VSN1, Q6ZS60, Q8N1W7

  22. XM_054326796.1 → XP_054182771.1  BCLAF1 and THRAP3 family member 3 isoform X17

  23. XM_054326795.1 → XP_054182770.1  BCLAF1 and THRAP3 family member 3 isoform X16

  24. XM_054326792.1 → XP_054182767.1  BCLAF1 and THRAP3 family member 3 isoform X13

  25. XM_054326789.1 → XP_054182764.1  BCLAF1 and THRAP3 family member 3 isoform X10

  26. XM_054326781.1 → XP_054182756.1  BCLAF1 and THRAP3 family member 3 isoform X5

  27. XM_054326790.1 → XP_054182765.1  BCLAF1 and THRAP3 family member 3 isoform X11

  28. XM_054326791.1 → XP_054182766.1  BCLAF1 and THRAP3 family member 3 isoform X12

  29. XM_054326794.1 → XP_054182769.1  BCLAF1 and THRAP3 family member 3 isoform X15

  30. XM_054326797.1 → XP_054182772.1  BCLAF1 and THRAP3 family member 3 isoform X18

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2AJT9.1 GenPept UniProtKB/Swiss-Prot:A2AJT9

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