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

    Gene ID: 4681, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough MICOS10-NBL1

    Readthrough gene: MICOS10-NBL1, Included gene: MICOS10

    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

    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)

    NEW Try the new Transcript table

    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_001204084.3NP_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:23121
      DAN; DAN domain
    2. NM_001204085.2NP_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:23121
      DAN; DAN domain
    3. NM_001204086.3NP_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_001278164.2NP_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:23121
      DAN; DAN domain
    5. NM_001278165.2NP_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:23121
      DAN; DAN domain
    6. NM_001278166.2NP_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:23121
      DAN; DAN domain
    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
      UniProtKB/Swiss-Prot
      A3KFI7, P41271, Q5TGZ2, Q5U0N4, Q96L68
      UniProtKB/TrEMBL
      E5RFZ1
      Related
      ENSP00000364278.4, ENST00000375136.8
      Conserved Domains (1) summary
      pfam03045
      Location:23121
      DAN; DAN domain
    8. NM_182744.4NP_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: 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)