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

Gene ID: 4681, updated on 7-Jun-2020

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
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

Genomic context

See NBL1 in Genome Data Viewer
Location:
1p36.13
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (19643229..19658456)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19969723..19984949)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378614 Neighboring gene MICOS10-NBL1 readthrough Neighboring gene mitochondrial contact site and cristae organizing system subunit 10 Neighboring gene ribosomal protein S14 pseudogene 3 Neighboring gene 5-hydroxytryptamine receptor 6 Neighboring gene transmembrane and coiled-coil domains 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough MICOS10-NBL1

Readthrough gene: MICOS10-NBL1, Included gene: MICOS10

Homology

Clone Names

  • MGC8972

Gene Ontology Provided by GOA

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

General protein information

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)

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_001204084.2NP_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
    Consensus CDS
    CCDS196.2
    UniProtKB/Swiss-Prot
    P41271
    Related
    ENSP00000478885.1, ENST00000621723.4
    Conserved Domains (1) summary
    cl21545
    Location:23121
    GHB_like; Glycoprotein hormone beta chain homologues
  2. NM_001204085.1NP_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
    Consensus CDS
    CCDS196.2
    UniProtKB/Swiss-Prot
    P41271
    Related
    ENSP00000483061.1, ENST00000618761.4
    Conserved Domains (1) summary
    cl21545
    Location:23121
    GHB_like; Glycoprotein hormone beta chain homologues
  3. NM_001204086.2NP_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:57155
    DAN; DAN domain
  4. NM_001278164.1NP_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
    Consensus CDS
    CCDS196.2
    UniProtKB/Swiss-Prot
    P41271
    Conserved Domains (1) summary
    cl21545
    Location:23121
    GHB_like; Glycoprotein hormone beta chain homologues
  5. NM_001278165.1NP_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
    Consensus CDS
    CCDS196.2
    UniProtKB/Swiss-Prot
    P41271
    Related
    ENSP00000480391.1, ENST00000622566.4
    Conserved Domains (1) summary
    cl21545
    Location:23121
    GHB_like; Glycoprotein hormone beta chain homologues
  6. NM_001278166.1NP_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
    Consensus CDS
    CCDS196.2
    UniProtKB/Swiss-Prot
    P41271
    Related
    ENSP00000449007.2, ENST00000548815.2
    Conserved Domains (1) summary
    cl21545
    Location:23121
    GHB_like; Glycoprotein hormone beta chain homologues
  7. NM_005380.8NP_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
    Consensus CDS
    CCDS196.2
    UniProtKB/Swiss-Prot
    P41271
    Related
    ENSP00000364278.3, ENST00000375136.7
    Conserved Domains (1) summary
    cl21545
    Location:23121
    GHB_like; Glycoprotein hormone beta chain homologues
  8. NM_182744.3NP_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:58156
    DAN; DAN domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    19643229..19658456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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