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 w... See more...

Aliases for NBL1 Gene

Aliases for NBL1 Gene

  • NBL1, DAN Family BMP Antagonist 2 3 5
  • Neuroblastoma Suppressor Of Tumorigenicity 1 2 3 4
  • Neuroblastoma Candidate Region, Suppression Of Tumorigenicity 1 2 3
  • Differential Screening-Selected Gene Aberrant In Neuroblastoma 2 3
  • Neuroblastoma 1, DAN Family BMP Antagonist 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
  • GC01P019640
  • GC01P019601
  • GC01P019603

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 (NBL1, DAN Family BMP Antagonist) is a Protein Coding gene. Diseases associated with NBL1 include Neuroblastoma and Nodular Ganglioneuroblastoma. 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 GREM2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for NBL1 Gene

Genomics for NBL1 Gene

GeneHancer (GH) Regulatory Elements for NBL1 Gene

Promoters and enhancers for NBL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NBL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NBL1

Top Transcription factor binding sites by QIAGEN in the NBL1 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • p53

Genomic Locations for NBL1 Gene

Genomic Locations for NBL1 Gene
chr1:19,596,979-19,658,456
(GRCh38/hg38)
Size:
61,478 bases
Orientation:
Plus strand
chr1:19,967,048-19,984,949
(GRCh37/hg19)
Size:
17,902 bases
Orientation:
Plus strand

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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA05671.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA92265.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG36074.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

  • Glycosylation at Asn39
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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

GenScript: Design optimal peptide antigens:
  • Neuroblastoma, suppression of tumorigenicity 1 (A3KFI6_HUMAN)
  • Zinc finger protein DAN (NBL1_HUMAN)

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

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.
GENATLAS Biochemistry:
neuroblastoma,suppression of tumorigenicity 1 (see TSG1A,CDC2L1,CDC2L2,CDC2L3)

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 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

PathCards logo

SuperPathways for NBL1 Gene

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

Pathways by source for NBL1 Gene

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

Gene Ontology (GO) - Biological Process for NBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007399 nervous system development ISS --
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

mRNA/cDNA for NBL1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBL1

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

Expression for NBL1 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Heart(2.2)
  • Pancreas(2.2)
  • Gall bladder(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 -- 31
  • 98 (a)
OneToMany
NBL1 30
  • 90.63 (n)
cow
(Bos Taurus)
Mammalia -- 31
  • 95 (a)
OneToMany
NBL1 30
  • 90.32 (n)
mouse
(Mus musculus)
Mammalia Nbl1 17 31 30
  • 89.51 (n)
rat
(Rattus norvegicus)
Mammalia Nbl1 30
  • 88.39 (n)
chicken
(Gallus gallus)
Aves NBL1 31 30
  • 79.31 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nbl1 30
  • 80.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia nbl1-A-prov 30
zebrafish
(Danio rerio)
Actinopterygii nbl1 30
  • 69.39 (n)
NBL1 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NBL1: view image

Paralogs for NBL1 Gene

Paralogs for NBL1 Gene

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

  • NBL1_HUMAN
  • A3KFI1_HUMAN
  • A3KFI2_HUMAN
  • A3KFI3_HUMAN
  • A3KFI4_HUMAN
  • A3KFI5_HUMAN
  • E5RFZ1_HUMAN
genes like me logo Genes that share paralogs with NBL1: view

Variants for NBL1 Gene

Additional dbSNP identifiers (rs#s) for NBL1 Gene

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

SNP Genotyping and Copy Number Assay Products

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 NBL1 Gene

Disorders for NBL1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NBL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • nb
nodular ganglioneuroblastoma
  • ganglioneuroblastoma, nodular
ureter, cancer of
  • ureter cancer
ametropic amblyopia
  • refractive amblyopia
cycloplegia
  • ciliary muscle paresis
- 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 23 54
  2. Identification of human DAN gene, mapping to the putative neuroblastoma tumor suppressor locus. (PMID: 8084583) Enomoto H … Yoshida H (Oncogene 1994) 3 4 23 54
  3. The DAN family: modulators of TGF-β signaling and beyond. (PMID: 24810382) Nolan K … Thompson TB (Protein science : a publication of the Protein Society 2014) 2 3 54
  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 54
  5. 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 54

Products for NBL1 Gene

Sources for NBL1 Gene