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

    Gene ID: 256643, updated on 2-Nov-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, Nov 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (19912860..19991061, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (19495763..19573959, complement)
    RS_2024_09 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 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_2024_08

    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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