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Aliases for NBL1 Gene

Aliases for NBL1 Gene

  • Neuroblastoma 1, DAN Family BMP Antagonist 2 3 5
  • Neuroblastoma Candidate Region, Suppression Of Tumorigenicity 1 2 3
  • Differential Screening-Selected Gene Aberrant In Neuroblastoma 2 3
  • Neuroblastoma Suppressor Of Tumorigenicity 1 2 3
  • DAN Domain Family Member 1 3 4
  • DAND1 3 4
  • DAN 3 4
  • Neuroblastoma, Suppression Of Tumorigenicity 1 2
  • Zinc Finger Protein DAN 4
  • Protein N03 4
  • D1S1733E 3
  • NO3 3
  • NB 3

External Ids for NBL1 Gene

Previous GeneCards Identifiers for NBL1 Gene

  • GC01P019530
  • GC01P018995
  • GC01P019115
  • GC01P019439
  • GC01P019715
  • GC01P019842
  • GC01P019968
  • GC01P018215

Summaries for NBL1 Gene

Entrez Gene Summary for NBL1 Gene

  • This gene product is the founding member of the evolutionarily conserved CAN (Cerberus and DAN) family of proteins, which contain a domain resembling the CTCK (C-terminal cystine knot-like) motif found in a number of signaling molecules. These proteins are secreted, and act as BMP (bone morphogenetic protein) antagonists by binding to BMPs and preventing them from interacting with their receptors. They may thus play an important role during growth and development. Alternatively spliced transcript variants have been identified for this gene. Read-through transcripts between this locus and the upstream mitochondrial inner membrane organizing system 1 gene (GeneID 440574) have been observed. [provided by RefSeq, May 2013]

GeneCards Summary for NBL1 Gene

NBL1 (Neuroblastoma 1, DAN Family BMP Antagonist) is a Protein Coding gene. Diseases associated with NBL1 include Neuroblastoma and Asthenopia. Among its related pathways are TGF-beta signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and morphogen activity. An important paralog of this gene is MINOS1-NBL1.

UniProtKB/Swiss-Prot for NBL1 Gene

  • Possible candidate as a tumor suppressor gene of neuroblastoma. May play an important role in preventing cells from entering the final stage (G1/S) of the transformation process.

Additional gene information for NBL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBL1 Gene

Genomics for NBL1 Gene

GeneHancer (GH) Regulatory Elements for NBL1 Gene

Promoters and enhancers for NBL1 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
GH01I019642 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 559.7 +8.1 8088 11.7 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZNF143 ZNF548 FOS MCM3 NBL1 UBR4 HTR6 MUL1 GC01M019654 MINOS1-NBL1
GH01I019639 Enhancer 1.2 Ensembl ENCODE dbSUPER 550.8 +0.1 54 1.4 PKNOX1 FOXA2 NFIB SIN3A ZNF48 RARA RFX5 GLIS2 RCOR1 MIXL1 NBL1 MRTO4 AKR7A2 GC01M019654 MINOS1-NBL1
GH01I019432 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.3 -188.7 -188713 39.4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 CAPZB EMC1 NBL1 RNU4-28P HTR6 AKR7A2 OTUD3 AKR7A3 PQLC2 UBR4
GH01I019481 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.5 -155.5 -155518 6.9 HDGF ARID4B SIN3A DMAP1 POLR2B E2F8 ZNF207 ZNF143 SP3 MXD4 CAPZB RNU4-28P HTR6 NBL1 AKR7A3 PIR41915
GH01I019595 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 7 -43.5 -43465 3.4 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 GC01P019599 MINOS1 MINOS1-NBL1 LOC105378614 NBL1 AKR7A2 RPS14P3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NBL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NBL1 gene promoter:

Genomic Locations for NBL1 Gene

Genomic Locations for NBL1 Gene
chr1:19,640,554-19,658,456
(GRCh38/hg38)
Size:
17,903 bases
Orientation:
Plus strand
chr1:19,967,048-19,984,949
(GRCh37/hg19)

Genomic View for NBL1 Gene

Genes around NBL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBL1 Gene

Proteins for NBL1 Gene

  • Protein details for NBL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41271-NBL1_HUMAN
    Recommended name:
    Neuroblastoma suppressor of tumorigenicity 1
    Protein Accession:
    P41271
    Secondary Accessions:
    • A3KFI7
    • Q5TGZ2
    • Q5U0N4
    • Q96L68

    Protein attributes for NBL1 Gene

    Size:
    181 amino acids
    Molecular mass:
    19408 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH12037.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA05671.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA92265.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG36074.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NBL1 Gene

    Alternative splice isoforms for NBL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NBL1 Gene

Post-translational modifications for NBL1 Gene

No Post-translational modifications

Antibody Products

  • Abcam antibodies for NBL1

Protein Products

  • Abcam proteins for NBL1

No data available for DME Specific Peptides for NBL1 Gene

Domains & Families for NBL1 Gene

Gene Families for NBL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for NBL1 Gene

Suggested Antigen Peptide Sequences for NBL1 Gene

Graphical View of Domain Structure for InterPro Entry

P41271

UniProtKB/Swiss-Prot:

NBL1_HUMAN :
  • Belongs to the DAN family.
Family:
  • Belongs to the DAN family.
genes like me logo Genes that share domains with NBL1: view

Function for NBL1 Gene

Molecular function for NBL1 Gene

GENATLAS Biochemistry:
neuroblastoma,suppression of tumorigenicity 1 (see TSG1A,CDC2L1,CDC2L2,CDC2L3)
UniProtKB/Swiss-Prot Function:
Possible candidate as a tumor suppressor gene of neuroblastoma. May play an important role in preventing cells from entering the final stage (G1/S) of the transformation process.

Phenotypes From GWAS Catalog for NBL1 Gene

Gene Ontology (GO) - Molecular Function for NBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016015 morphogen activity ISS --
GO:0036122 BMP binding ISS --
GO:0042803 protein homodimerization activity IMP 23063586
genes like me logo Genes that share ontologies with NBL1: view
genes like me logo Genes that share phenotypes with NBL1: view

Animal Models for NBL1 Gene

MGI Knock Outs for NBL1:

Animal Model Products

CRISPR Products

miRNA for NBL1 Gene

miRTarBase miRNAs that target NBL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NBL1 Gene

Localization for NBL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBL1 Gene

Secreted.

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 NBL1 gene
Compartment Confidence
extracellular 5
mitochondrion 2
plasma membrane 1
cytoskeleton 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for NBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 11594460
genes like me logo Genes that share ontologies with NBL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NBL1 Gene

Pathways & Interactions for NBL1 Gene

genes like me logo Genes that share pathways with NBL1: view

Pathways by source for NBL1 Gene

1 GeneTex pathway for NBL1 Gene
1 KEGG pathway for NBL1 Gene

Gene Ontology (GO) - Biological Process for NBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development ISS --
GO:0010469 regulation of receptor activity IEA --
GO:0030514 negative regulation of BMP signaling pathway IMP 25561725
GO:0035582 sequestering of BMP in extracellular matrix ISS --
GO:0038098 sequestering of BMP from receptor via BMP binding IDA 23063586
genes like me logo Genes that share ontologies with NBL1: view

No data available for SIGNOR curated interactions for NBL1 Gene

Drugs & Compounds for NBL1 Gene

No Compound Related Data Available

Transcripts for NBL1 Gene

Unigene Clusters for NBL1 Gene

Neuroblastoma 1, DAN family BMP antagonist:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBL1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d · 11e
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - - - - -
SP5: - - - -
SP6: - - -
SP7: - -
SP8:
SP9: -

Relevant External Links for NBL1 Gene

GeneLoc Exon Structure for
NBL1
ECgene alternative splicing isoforms for
NBL1

Expression for NBL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NBL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NBL1 Gene

This gene is overexpressed in Ovary (x4.9) and Cervix - Ectocervix (x4.1).

Protein differential expression in normal tissues from HIPED for NBL1 Gene

This gene is overexpressed in Cerebrospinal fluid (63.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NBL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of NBL1 Gene:

NBL1

SOURCE GeneReport for Unigene cluster for NBL1 Gene:

Hs.654502

mRNA Expression by UniProt/SwissProt for NBL1 Gene:

P41271-NBL1_HUMAN
Tissue specificity: Most abundant in normal lung and meningioma.

Evidence on tissue expression from TISSUES for NBL1 Gene

  • Eye(4.7)
  • Skin(4.7)
  • Intestine(4.6)
  • Lung(4.5)
  • Nervous system(3.8)
  • Pancreas(2.2)
  • Gall bladder(2.1)
  • Heart(2.1)
  • Kidney(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with NBL1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBL1 Gene

Orthologs for NBL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NBL1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 34
  • 98 (a)
OneToMany
NBL1 33
  • 90.63 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 95 (a)
OneToMany
NBL1 33
  • 90.32 (n)
mouse
(Mus musculus)
Mammalia Nbl1 33 16 34
  • 89.51 (n)
rat
(Rattus norvegicus)
Mammalia Nbl1 33
  • 88.39 (n)
chicken
(Gallus gallus)
Aves NBL1 33 34
  • 79.31 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nbl1 33
  • 80.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia nbl1-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii nbl1 33
  • 69.39 (n)
NBL1 34
  • 52 (a)
OneToMany
Species where no ortholog for NBL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)

Evolution for NBL1 Gene

ENSEMBL:
Gene Tree for NBL1 (if available)
TreeFam:
Gene Tree for NBL1 (if available)

Paralogs for NBL1 Gene

Paralogs for NBL1 Gene

(2) SIMAP similar genes for NBL1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with NBL1: view

Variants for NBL1 Gene

Sequence variations from dbSNP and Humsavar for NBL1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000022457 -- 19,642,359(+) G/A upstream_transcript_variant
rs1000916357 -- 19,644,502(+) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001080705 -- 19,655,262(+) C/T intron_variant
rs1001138830 -- 19,654,441(+) G/A intron_variant
rs1001521087 -- 19,655,223(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NBL1 Gene

Variant ID Type Subtype PubMed ID
esv2395760 CNV deletion 18987734
nsv1077193 CNV deletion 25765185
nsv1142753 CNV deletion 24896259
nsv474503 CNV novel sequence insertion 20440878
nsv508991 CNV insertion 20534489
nsv545729 CNV loss 21841781
nsv954899 CNV deletion 24416366

Variation tolerance for NBL1 Gene

Residual Variation Intolerance Score: 37.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.01; 0.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NBL1 Gene

Human Gene Mutation Database (HGMD)
NBL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBL1 Gene

Disorders for NBL1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NBL1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma, susceptibility to
asthenopia
  • accommodative strain
suppression amblyopia
  • strabismic amblyopia
regular astigmatism
retinitis pigmentosa, y-linked
  • rpy
- elite association - COSMIC cancer census association via MalaCards
Search NBL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NBL1

genes like me logo Genes that share disorders with NBL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBL1 Gene

Publications for NBL1 Gene

  1. Purification and partial amino acid sequence of proteins from human epidermal keratinocyte conditioned medium. (PMID: 11594460) Ahmed A … Parenteau N (Journal of protein chemistry 2001) 3 4 22 58
  2. Identification of human DAN gene, mapping to the putative neuroblastoma tumor suppressor locus. (PMID: 8084583) Enomoto H … Yoshida H (Oncogene 1994) 3 4 22 58
  3. 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 58
  4. Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification. (PMID: 7633401) Caron H … Westerveld A (Human molecular genetics 1995) 2 3 58
  5. Structure of Gremlin-2 in Complex with GDF5 Gives Insight into DAN-Family-Mediated BMP Antagonism. (PMID: 27524626) Nolan K … Thompson TB (Cell reports 2016) 3 58

Products for NBL1 Gene

Sources for NBL1 Gene

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