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

Summary

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

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

RH68284 (e-PCR)
- UniSTS:49490

RH68234 (e-PCR)
- UniSTS:51649

D1S1733E (e-PCR)
- UniSTS:154570

D1S1764E (e-PCR)
- UniSTS:150488

NBL1 (e-PCR)
- UniSTS:503264

Readthrough MICOS10-NBL1

Readthrough gene: MICOS10-NBL1, Included gene: MICOS10

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)

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
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
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
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
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
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
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
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