Aliases for BOD1L1 Gene

Aliases for BOD1L1 Gene

  • Biorientation Of Chromosomes In Cell Division 1 Like 1 2 3 5
  • Biorientation Of Chromosomes In Cell Division Protein 1-Like 1 3 4
  • Biorientation Of Chromosomes In Cell Division 1-Like 2 3
  • Family With Sequence Similarity 44, Member A 2 3
  • KIAA1327 2 4
  • FAM44A 3 4
  • BOD1L 3 4
  • FLJ33215 2
  • BOD1L1 5

External Ids for BOD1L1 Gene

Previous HGNC Symbols for BOD1L1 Gene

  • FAM44A
  • BOD1L

Summaries for BOD1L1 Gene

GeneCards Summary for BOD1L1 Gene

BOD1L1 (Biorientation Of Chromosomes In Cell Division 1 Like 1) is a Protein Coding gene. Diseases associated with BOD1L1 include Fanconi Anemia, Complementation Group A. An important paralog of this gene is BOD1.

UniProtKB/Swiss-Prot Summary for BOD1L1 Gene

  • Component of the fork protection machinery required to protect stalled/damaged replication forks from uncontrolled DNA2-dependent resection. Acts by stabilizing RAD51 at stalled replication forks and protecting RAD51 nucleofilaments from the antirecombinogenic activities of FBH1 and BLM (PubMed:26166705). Does not regulate spindle orientation (PubMed:26166705).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BOD1L1 Gene

Genomics for BOD1L1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BOD1L1 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
GH04J013625 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 263.5 +0.2 224 3.4 CHD2 TBP SP1 MXD4 FEZF1 CEBPA SIX5 NR2C1 MNT IKZF1 BOD1L1 MIR5091 LINC01096 ENSG00000250497 piR-35893 NKX3-2
GH04J013544 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 11.6 +83.1 83124 3.6 MNT ELF1 ZIC2 SIN3A GTF2E2 MAX VEZF1 SAP130 ZNF341 GABPB1 NKX3-2 BOD1L1 RAB28 HSALNG0033003 LINC01096
GH04J013905 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -279.4 -279397 3.9 CEBPA CTCF CEBPB CUX1 FOXA2 EP300 RAD21 TEAD3 SMC3 STAT3 BOD1L1 piR-31199-247 piR-48209-538 LOC107986182 LINC01182
GH04J013639 Enhancer 1 Ensembl ENCODE 10.7 -13.5 -13476 4 ZSCAN16 ZBTB10 FEZF1 ZEB1 ZIC2 ZNF610 CEBPB ZNF639 EP300 PRDM1 BOD1L1 LINC01096 LOC100288683 lnc-BOD1L1-4
GH04J013792 Enhancer 0.5 Ensembl ENCODE 11 -165.6 -165620 0.9 TOE1 USF1 NKX3-2 BOD1L1 piR-57176-480 ENSG00000250497 LOC101929048 lnc-BOD1L1-2 LINC01182
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BOD1L1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BOD1L1

Genomic Locations for BOD1L1 Gene

Latest Assembly
chr4:13,568,738-13,627,725
(GRCh38/hg38)
Size:
58,988 bases
Orientation:
Minus strand

Previous Assembly
chr4:13,570,362-13,629,349
(GRCh37/hg19 by Entrez Gene)
Size:
58,988 bases
Orientation:
Minus strand

chr4:13,570,362-13,629,347
(GRCh37/hg19 by Ensembl)
Size:
58,986 bases
Orientation:
Minus strand

Genomic View for BOD1L1 Gene

Genes around BOD1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BOD1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BOD1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BOD1L1 Gene

Proteins for BOD1L1 Gene

  • Protein details for BOD1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFC6-BD1L1_HUMAN
    Recommended name:
    Biorientation of chromosomes in cell division protein 1-like 1
    Protein Accession:
    Q8NFC6
    Secondary Accessions:
    • Q6P0M8
    • Q96AL1
    • Q9H6G0
    • Q9NTD6
    • Q9P2L9

    Protein attributes for BOD1L1 Gene

    Size:
    3051 amino acids
    Molecular mass:
    330466 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH16987.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15299.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=CAB70705.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for BOD1L1 Gene

Post-translational modifications for BOD1L1 Gene

  • Ubiquitination at Lys2981 and Lys2982
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BOD1L1 Gene

Domains & Families for BOD1L1 Gene

Gene Families for BOD1L1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BOD1L1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BOD1L1 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM44A (BOD1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NFC6

UniProtKB/Swiss-Prot:

BD1L1_HUMAN :
  • Belongs to the BOD1 family.
Family:
  • Belongs to the BOD1 family.
genes like me logo Genes that share domains with BOD1L1: view

Function for BOD1L1 Gene

Molecular function for BOD1L1 Gene

UniProtKB/Swiss-Prot Function:
Component of the fork protection machinery required to protect stalled/damaged replication forks from uncontrolled DNA2-dependent resection. Acts by stabilizing RAD51 at stalled replication forks and protecting RAD51 nucleofilaments from the antirecombinogenic activities of FBH1 and BLM (PubMed:26166705). Does not regulate spindle orientation (PubMed:26166705).

Phenotypes From GWAS Catalog for BOD1L1 Gene

Gene Ontology (GO) - Molecular Function for BOD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004864 protein phosphatase inhibitor activity IBA 21873635
GO:0005515 protein binding IPI 24981860
GO:0051721 protein phosphatase 2A binding IBA 21873635
genes like me logo Genes that share ontologies with BOD1L1: view
genes like me logo Genes that share phenotypes with BOD1L1: view

miRNA for BOD1L1 Gene

miRTarBase miRNAs that target BOD1L1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BOD1L1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BOD1L1 Gene

Localization for BOD1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BOD1L1 Gene

Chromosome. Note=Localizes at replication forks: following DNA damage, localizes to damaged replication forks undergoing resection. {ECO:0000269 Ref.2}.

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 BOD1L1 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BOD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000922 spindle pole IBA 21873635
GO:0000940 condensed chromosome outer kinetochore IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with BOD1L1: view

Pathways & Interactions for BOD1L1 Gene

PathCards logo

SuperPathways for BOD1L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BOD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 26166705
GO:0007049 cell cycle IEA --
GO:0031297 replication fork processing IDA 26166705
GO:0032515 negative regulation of phosphoprotein phosphatase activity IBA 21873635
genes like me logo Genes that share ontologies with BOD1L1: view

No data available for Pathways by source and SIGNOR curated interactions for BOD1L1 Gene

Drugs & Compounds for BOD1L1 Gene

No Compound Related Data Available

Transcripts for BOD1L1 Gene

mRNA/cDNA for BOD1L1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BOD1L1

Alternative Splicing Database (ASD) splice patterns (SP) for BOD1L1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d
SP1: - - -
SP2: - -
SP3:
SP4: -
SP5: -

Relevant External Links for BOD1L1 Gene

GeneLoc Exon Structure for
BOD1L1

Expression for BOD1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BOD1L1 Gene

Protein differential expression in normal tissues from HIPED for BOD1L1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.8), Adrenal (11.8), and Bone marrow mesenchymal stem cell (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BOD1L1 Gene



Protein tissue co-expression partners for BOD1L1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BOD1L1

SOURCE GeneReport for Unigene cluster for BOD1L1 Gene:

Hs.744935

Evidence on tissue expression from TISSUES for BOD1L1 Gene

  • Nervous system(4.4)
  • Skin(4.3)
  • Liver(4.2)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with BOD1L1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BOD1L1 Gene

Orthologs for BOD1L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BOD1L1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BOD1L1 30 31
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BOD1L1 30 31
  • 82.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BOD1L 30 31
  • 78.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bod1l1 30
  • 78.48 (n)
Mouse
(Mus musculus)
Mammalia Bod1l 30 17 31
  • 78.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BOD1L1 31
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 49 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves BOD1L 30
  • 62.51 (n)
BOD1L1 31
  • 40 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BOD1L1 31
  • 34 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21296 30
Zebrafish
(Danio rerio)
Actinopterygii BOD1L1 31
  • 25 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5514 31
  • 16 (a)
OneToMany
Species where no ortholog for BOD1L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BOD1L1 Gene

ENSEMBL:
Gene Tree for BOD1L1 (if available)
TreeFam:
Gene Tree for BOD1L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BOD1L1: view image

Paralogs for BOD1L1 Gene

Paralogs for BOD1L1 Gene

(2) SIMAP similar genes for BOD1L1 Gene using alignment to 3 proteins:

  • BD1L1_HUMAN
  • F8WDD0_HUMAN
  • H0Y9Y2_HUMAN
genes like me logo Genes that share paralogs with BOD1L1: view

Variants for BOD1L1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BOD1L1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs1553846707 Uncertain Significance: not provided 13,611,079(-) TTC/T
NM_148894.3(BOD1L1):c.1344_1345del (p.Gln448_Asn449insTer)
FRAMESHIFT
VAR_036124 A breast cancer sample p.Ser246Ile
rs16888885 - p.Thr1515Ala
rs17745676 - p.Thr1448Ala
rs17745712 - p.Ala1369Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BOD1L1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BOD1L1 Gene

Variant ID Type Subtype PubMed ID
esv3306712 CNV mobile element insertion 20981092
esv3439775 CNV insertion 20981092
nsv1014473 CNV gain 25217958
nsv4239 CNV insertion 18451855
nsv593750 CNV gain 21841781

Variation tolerance for BOD1L1 Gene

Residual Variation Intolerance Score: 92.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.35; 76.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BOD1L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BOD1L1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BOD1L1 Gene

Disorders for BOD1L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BOD1L1 Gene - From: COP

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BOD1L1

genes like me logo Genes that share disorders with BOD1L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BOD1L1 Gene

Publications for BOD1L1 Gene

  1. BOD1L Is Required to Suppress Deleterious Resection of Stressed Replication Forks. (PMID: 26166705) Higgs MR … Stewart GS (Molecular cell 2015) 3 4
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4

Products for BOD1L1 Gene

Sources for BOD1L1 Gene