Aliases for BCLAF3 Gene

Aliases for BCLAF3 Gene

  • BCLAF1 And THRAP3 Family Member 3 2 3 4 5
  • CXorf23 3 4
  • Chromosome X Open Reading Frame 23 2
  • Uncharacterized Protein CXorf23 3

External Ids for BCLAF3 Gene

Previous HGNC Symbols for BCLAF3 Gene

  • CXorf23

Summaries for BCLAF3 Gene

GeneCards Summary for BCLAF3 Gene

BCLAF3 (BCLAF1 And THRAP3 Family Member 3) is a Protein Coding gene. Diseases associated with BCLAF3 include Sotos Syndrome 1. An important paralog of this gene is THRAP3.

Additional gene information for BCLAF3 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCLAF3 Gene

Genomics for BCLAF3 Gene

GeneHancer (GH) Regulatory Elements for BCLAF3 Gene

Promoters and enhancers for BCLAF3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ019989 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 538.3 +0.2 233 2.4 CTCF NRF1 ZBTB10 ZBTB11 ZBTB26 REST CTBP1 SMC3 SIN3A POLR2A BCLAF3 LOC729609 MAP7D2 RF00017-8209 RF00017-8202
GH0XJ020139 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 44.5 -150.4 -150446 4.8 ZBTB40 SIN3A NRF1 POLR2G SP1 GTF2E2 ZFX ZNF639 POLR2A ZBTB10 EIF1AX EIF1AX-AS1 lnc-PDHA1-3 BCLAF3 RF00017-8210
GH0XJ019885 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 23.8 +103.5 103518 3.6 ZNF217 CTCF POLR2G PHF8 ZBTB10 ZBTB26 RAD21 ZBTB7A TEAD1 CTBP1 SH3KBP1 BCLAF3 RF00017-8205 RF00017-8202
GH0XJ020116 Promoter 1.2 EPDnew Ensembl 25.7 -125.7 -125666 1.6 ZBTB26 TFDP1 GABPB1 POLR2A EGR1 ATF4 ZNF2 DMAP1 ZNF48 NRF1 MAP7D2 BCLAF3 RF00017-8211 RF00017-8210
GH0XJ020066 Enhancer 0.9 Ensembl ENCODE 27.7 -76.8 -76767 1.8 CTCF JUND FOS ZIC2 TRIM28 REST RAD21 TRIM22 SMC3 OSR2 RF00017-8202 BCLAF3 MAP7D2 SH3KBP1 piR-33804-173
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCLAF3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCLAF3

Genomic Locations for BCLAF3 Gene

Genomic Locations for BCLAF3 Gene
chrX:19,912,860-19,990,934
(GRCh38/hg38)
Size:
78,075 bases
Orientation:
Minus strand
chrX:19,930,978-19,988,416
(GRCh37/hg19)
Size:
57,439 bases
Orientation:
Minus strand

Genomic View for BCLAF3 Gene

Genes around BCLAF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCLAF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCLAF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCLAF3 Gene

Proteins for BCLAF3 Gene

  • Protein details for BCLAF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A2AJT9-BCLA3_HUMAN
    Recommended name:
    BCLAF1 and THRAP3 family member 3
    Protein Accession:
    A2AJT9
    Secondary Accessions:
    • A1A4E8
    • Q5VSM7
    • Q5VSN1
    • Q6ZS60
    • Q8N1W7

    Protein attributes for BCLAF3 Gene

    Size:
    711 amino acids
    Molecular mass:
    83871 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04399.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC87094.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for BCLAF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCLAF3 Gene

Post-translational modifications for BCLAF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BCLAF3 Gene

Domains & Families for BCLAF3 Gene

Gene Families for BCLAF3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BCLAF3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCLAF3 Gene

GenScript: Design optimal peptide antigens:
  • CXorf23 protein (B7ZLM9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A2AJT9

UniProtKB/Swiss-Prot:

BCLA3_HUMAN :
  • Belongs to the BCLAF1/THRAP3 family.
Family:
  • Belongs to the BCLAF1/THRAP3 family.
genes like me logo Genes that share domains with BCLAF3: view

Function for BCLAF3 Gene

genes like me logo Genes that share phenotypes with BCLAF3: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BCLAF3 Gene

Localization for BCLAF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCLAF3 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCLAF3 gene
Compartment Confidence
nucleus 4
mitochondrion 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BCLAF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with BCLAF3: view

Pathways & Interactions for BCLAF3 Gene

PathCards logo

SuperPathways for BCLAF3 Gene

No Data Available

Interacting Proteins for BCLAF3 Gene

Selected Interacting proteins: A2AJT9-BCLA3_HUMAN for BCLAF3 Gene via IID

;

Gene Ontology (GO) - Biological Process for BCLAF3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for BCLAF3 Gene

Drugs & Compounds for BCLAF3 Gene

No Compound Related Data Available

Transcripts for BCLAF3 Gene

mRNA/cDNA for BCLAF3 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCLAF3 Gene

No ASD Table

Relevant External Links for BCLAF3 Gene

GeneLoc Exon Structure for
BCLAF3

Expression for BCLAF3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCLAF3

Evidence on tissue expression from TISSUES for BCLAF3 Gene

  • Nervous system(4.3)
  • Intestine(4.2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCLAF3 Gene

Orthologs for BCLAF3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCLAF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CXorf23 31
  • 100 (a)
OneToOne
CXHXorf23 30
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia CXHXorf23 30
  • 87.27 (n)
CXorf23 31
  • 70 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CXHXorf23 30
  • 84.09 (n)
CXORF23 31
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562161 30
  • 79.81 (n)
mouse
(Mus musculus)
Mammalia A830080D01Rik 31 30
  • 78.53 (n)
OneToOne
Bclaf3 17
oppossum
(Monodelphis domestica)
Mammalia CXorf23 31
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1HXorf23 30
  • 69.24 (n)
CXorf23 31
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CXorf23 31
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490423 30
  • 55.03 (n)
Species where no ortholog for BCLAF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BCLAF3 Gene

ENSEMBL:
Gene Tree for BCLAF3 (if available)
TreeFam:
Gene Tree for BCLAF3 (if available)

Paralogs for BCLAF3 Gene

Paralogs for BCLAF3 Gene

genes like me logo Genes that share paralogs with BCLAF3: view

Variants for BCLAF3 Gene

Additional dbSNP identifiers (rs#s) for BCLAF3 Gene

Structural Variations from Database of Genomic Variants (DGV) for BCLAF3 Gene

Variant ID Type Subtype PubMed ID
nsv1110597 CNV duplication 24896259
nsv1140019 CNV duplication 24896259
nsv1150454 CNV duplication 26484159

Variation tolerance for BCLAF3 Gene

Residual Variation Intolerance Score: 11.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCLAF3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCLAF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCLAF3 Gene

Disorders for BCLAF3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BCLAF3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
sotos syndrome 1
  • sotos1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BCLAF3

genes like me logo Genes that share disorders with BCLAF3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCLAF3 Gene

Publications for BCLAF3 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 54
  2. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 54
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 54
  5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PMID: 21406692) Rigbolt KT … Blagoev B (Science signaling 2011) 4 54

Products for BCLAF3 Gene

Sources for BCLAF3 Gene