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NBL1 NBL1, DAN family BMP antagonist [ Homo sapiens (human) ]

Gene ID: 4681, updated on 2-Nov-2024

Summary

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Official Symbol
NBL1provided by HGNC
Official Full Name
NBL1, DAN family BMP antagonistprovided by HGNC
Primary source
HGNC:HGNC:7650
See related
Ensembl:ENSG00000158747 MIM:600613; AllianceGenome:HGNC:7650
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NB; DAN; NO3; DAND1; D1S1733E
Summary
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]
Expression
Broad expression in ovary (RPKM 113.9), prostate (RPKM 98.5) and 20 other tissues See more
Orthologs
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Genomic context

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See NBL1 in Genome Data Viewer
Location:
1p36.13
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (19643229..19658452)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (19466606..19481830)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19969723..19984945)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 305 Neighboring gene MICOS10-NBL1 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 357 Neighboring gene MICOS10 divergent transcript Neighboring gene mitochondrial contact site and cristae organizing system subunit 10 Neighboring gene ribosomal protein S14 pseudogene 3 Neighboring gene MPRA-validated peak101 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19962230-19962437 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19969817-19970652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19976919-19977536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19991190-19992162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19992163-19993133 Neighboring gene 5-hydroxytryptamine receptor 6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20015541-20016055 Neighboring gene transmembrane and coiled-coil domains 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20066909-20067410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20067411-20067910 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:20076458-20077657 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:20091493-20092692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20106613-20107114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 307 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:20126577-20127077

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Neuroblastoma suppressor of tumorigenicity 1 is associated with the severity of interstitial fibrosis and kidney function decline in IgA nephropathy.
    Title: Neuroblastoma suppressor of tumorigenicity 1 is associated with the severity of interstitial fibrosis and kidney function decline in IgA nephropathy.
  2. Neuroblastoma suppressor of tumorigenicity 1 is a circulating protein associated with progression to end-stage kidney disease in diabetes.
    Title: Neuroblastoma suppressor of tumorigenicity 1 is a circulating protein associated with progression to end-stage kidney disease in diabetes.
  3. The structure of Grem2-GDF5 complex has revealed a number of key findings for DAN-family mediated BMP2 inhibition.
    Title: Structure of Gremlin-2 in Complex with GDF5 Gives Insight into DAN-Family-Mediated BMP Antagonism.
  4. inhibition toward BMP2 and BMP7, but not GDF5. Although NBL1(S67Y) was able to antagonize BMP7 as effectively as PRDC, NBL1(S67Y) was still 32-fold weaker than PRDC against BMP2.
    Title: Structure of neuroblastoma suppressor of tumorigenicity 1 (NBL1): insights for the functional variability across bone morphogenetic protein (BMP) antagonists.
  5. The DAN family proteins with regards to BMP inhibition and also highlights their emerging roles in the modulation of Wnt and VEGF signaling pathways.
    Title: The DAN family: modulators of TGF-β signaling and beyond.
  6. NBL1 is a secreted protein that is highly restricted to the prostate. Underexpression of NBL1 correlated with prostate cancer progression.
    Title: The search for secreted proteins in prostate cancer by the Escherichia coli ampicillin secretion trap: expression of NBL1 is highly restricted to the prostate and is related to cancer progression.
  7. CDKN2A, GATA3, CREBBP, ITGA2, NBL1 and TGM4 were down-regulated in the prostate carcinoma glands compared to the corresponding normal glands
    Title: Analysis of laser-microdissected prostate cancer tissues reveals potential tumor markers.
  8. This study was to establish if NBL1 was a molecular marker for pancreatic cancer.
    Title: NBL1 and anillin (ANLN) genes over-expression in pancreatic carcinoma.
  9. expression dependent on p73 during cisplatin-induced cell death and osteoblast differentiation
    Title: p73-dependent expression of DAN during cisplatin-induced cell death and osteoblast differentiation.
  10. Data demonstrate for the first time that Dan physically and functionally interacts with Slit proteins to act as a negative regulator for monocyte chemotaxis.
    Title: Cutting edge: bone morphogenetic protein antagonists Drm/Gremlin and Dan interact with Slits and act as negative regulators of monocyte chemotaxis.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough MICOS10-NBL1

Readthrough gene: MICOS10-NBL1, Included gene: MICOS10

Homology

Clone Names

  • MGC8972

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables BMP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables BMP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables identical protein binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables morphogen activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables receptor ligand activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in determination of dorsal identity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of BMP signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of monocyte chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neuron projection morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sequestering of BMP from receptor via BMP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sequestering of BMP from receptor via BMP binding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sequestering of BMP in extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IC
Inferred by Curator
more info
 PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
neuroblastoma suppressor of tumorigenicity 1
Names
DAN domain family member 1
differential screening-selected gene aberrant in neuroblastoma
neuroblastoma 1, DAN family BMP antagonist
neuroblastoma candidate region, suppression of tumorigenicity 1

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.

mRNA and Protein(s)

  1. NM_001204084.3 → NP_001191013.1  neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001191013.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 4, 6, 7, and 8 encode the same isoform (2).
    Source sequence(s)
    AK292101, AL031727, BM988954, DA924824
    UniProtKB/Swiss-Prot
    A3KFI7, P41271, Q5TGZ2, Q5U0N4, Q96L68
    UniProtKB/TrEMBL
    E5RFZ1
    Related
    ENSP00000478885.1, ENST00000621723.4
    Conserved Domains (1) summary
    pfam03045
    Location:23 → 121
    DAN; DAN domain

  2. NM_001204085.2 → NP_001191014.1  neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001191014.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 4, 6, 7, and 8 encode the same isoform (2).
    Source sequence(s)
    AK300872, AK313265, AL031727, BM988954
    UniProtKB/Swiss-Prot
    A3KFI7, P41271, Q5TGZ2, Q5U0N4, Q96L68
    UniProtKB/TrEMBL
    E5RFZ1
    Related
    ENSP00000483061.1, ENST00000618761.4
    Conserved Domains (1) summary
    pfam03045
    Location:23 → 121
    DAN; DAN domain

  3. NM_001204086.3 → NP_001191015.1  neuroblastoma suppressor of tumorigenicity 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK309257, AL031727, BM988954
    Consensus CDS
    CCDS72720.1
    UniProtKB/TrEMBL
    A0A087WTY6
    Related
    ENSP00000478223.1, ENST00000615215.4
    Conserved Domains (1) summary
    pfam03045
    Location:57 → 155
    DAN; DAN domain

  4. NM_001278164.2 → NP_001265093.1  neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001265093.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in the 5' exon, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 4, 6, 7, and 8 encode the same isoform (2).
    Source sequence(s)
    AK300872, AL031727, BM988954, DB016315
    UniProtKB/Swiss-Prot
    A3KFI7, P41271, Q5TGZ2, Q5U0N4, Q96L68
    UniProtKB/TrEMBL
    E5RFZ1
    Conserved Domains (1) summary
    pfam03045
    Location:23 → 121
    DAN; DAN domain

  5. NM_001278165.2 → NP_001265094.1  neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001265094.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 4, 6, 7, and 8 encode the same isoform (2).
    Source sequence(s)
    AK300872, AL031727, BM988954, DA384331
    UniProtKB/Swiss-Prot
    A3KFI7, P41271, Q5TGZ2, Q5U0N4, Q96L68
    UniProtKB/TrEMBL
    E5RFZ1
    Related
    ENSP00000480391.1, ENST00000622566.4
    Conserved Domains (1) summary
    pfam03045
    Location:23 → 121
    DAN; DAN domain

  6. NM_001278166.2 → NP_001265095.1  neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001265095.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 4, 6, 7, and 8 encode the same isoform (2).
    Source sequence(s)
    AK300872, AL031727, BM988954, DA929341, HY084536
    UniProtKB/Swiss-Prot
    A3KFI7, P41271, Q5TGZ2, Q5U0N4, Q96L68
    UniProtKB/TrEMBL
    E5RFZ1
    Related
    ENSP00000449007.2, ENST00000548815.2
    Conserved Domains (1) summary
    pfam03045
    Location:23 → 121
    DAN; DAN domain

  7. NM_005380.8 → NP_005371.2  neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_005371.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 4, 6, 7, and 8 encode the same isoform (2).
    Source sequence(s)
    AL031727, BC012037, BM988954, DB482000
    UniProtKB/Swiss-Prot
    A3KFI7, P41271, Q5TGZ2, Q5U0N4, Q96L68
    UniProtKB/TrEMBL
    E5RFZ1
    Related
    ENSP00000364278.4, ENST00000375136.8
    Conserved Domains (1) summary
    pfam03045
    Location:23 → 121
    DAN; DAN domain

  8. NM_182744.4 → NP_877421.2  neuroblastoma suppressor of tumorigenicity 1 isoform 1

    See identical proteins and their annotated locations for NP_877421.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK300872, AL031727, BM988954, DB253522
    Consensus CDS
    CCDS41278.1
    UniProtKB/Swiss-Prot
    P41271
    Related
    ENSP00000289749.2, ENST00000289749.6
    Conserved Domains (1) summary
    pfam03045
    Location:58 → 156
    DAN; DAN domain

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    19643229..19658452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    19466606..19481830
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P41271.2 GenPept UniProtKB/Swiss-Prot:P41271

Gene LinkOut

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