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    NOMO3 NODAL modulator 3 [ Homo sapiens (human) ]

    Gene ID: 408050, updated on 3-Nov-2024

    Summary

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    Official Symbol
    NOMO3provided by HGNC
    Official Full Name
    NODAL modulator 3provided by HGNC
    Primary source
    HGNC:HGNC:25242
    See related
    Ensembl:ENSG00000103226 MIM:609159; AllianceGenome:HGNC:25242
    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
    Nomo
    Summary
    This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 58.4), heart (RPKM 50.4) and 25 other tissues See more
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    Genomic context

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    See NOMO3 in Genome Data Viewer
    Location:
    16p13.11
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (16232528..16294811)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (16238081..16300368)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (16326385..16388668)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily C member 1 (ABCC1 blood group) Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:16193601-16194102 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:16194103-16194602 Neighboring gene ribosomal protein L17 pseudogene 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:16225735-16226234 Neighboring gene Sharpr-MPRA regulatory region 15590 Neighboring gene ATP binding cassette subfamily C member 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:16280257-16280430 Neighboring gene NANOG hESC enhancer GRCh37_chr16:16294128-16294629 Neighboring gene uncharacterized LOC105371100 Neighboring gene Sharpr-MPRA regulatory region 11301 Neighboring gene uncharacterized LOC105371099 Neighboring gene microRNA 3179-2 Neighboring gene microRNA 3670-2

    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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    Related articles in PubMed

    1. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. van Soest S, et al. Genome Res, 1997 Aug. PMID 9267806, Free PMC Article
    2. Substrate-driven assembly of a translocon for multipass membrane proteins. Sundaram A, et al. Nature, 2022 Nov. PMID 36261522, Free PMC Article
    3. An ER translocon for multi-pass membrane protein biogenesis. McGilvray PT, et al. Elife, 2020 Aug 21. PMID 32820719, Free PMC Article
    4. Nicalin and its binding partner Nomo are novel Nodal signaling antagonists. Haffner C, et al. EMBO J, 2004 Aug 4. PMID 15257293, Free PMC Article
    5. The addition of 5'-coding information to a 3'-directed cDNA library improves analysis of gene expression. Matoba R, et al. Gene, 1994 Sep 2. PMID 8076819

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in determination of left/right asymmetry in lateral mesoderm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in multi-pass transmembrane protein insertion into ER membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of nodal signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of multi-pass translocon complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BOS complex subunit NOMO3
    Names
    pM5 protein 3
    pM5 protein, middle copy

    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_001004067.4 → NP_001004067.1  BOS complex subunit NOMO3 precursor

      See identical proteins and their annotated locations for NP_001004067.1

      Status: REVIEWED

      Source sequence(s)
      AC136624, BC006531, BQ948282, CD653707, DB461977, DR760717
      Consensus CDS
      CCDS42123.1
      UniProtKB/Swiss-Prot
      P69849
      UniProtKB/TrEMBL
      A0A7I2V6B0
      Related
      ENSP00000382274.4, ENST00000399336.9
      Conserved Domains (2) summary
      pfam05738
      Location:875 → 927
      Cna_B; Cna protein B-type domain
      pfam13620
      Location:330 → 404
      CarboxypepD_reg; Carboxypeptidase regulatory-like 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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      16232528..16294811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005255318.2 → XP_005255375.1  BOS complex subunit NOMO3 isoform X1

      See identical proteins and their annotated locations for XP_005255375.1

      UniProtKB/TrEMBL
      A0A0G2JN29, J3KN36
      Related
      ENSP00000263012.6, ENST00000263012.10
      Conserved Domains (2) summary
      pfam05738
      Location:875 → 927
      Cna_B; Cna protein B-type domain
      pfam13620
      Location:330 → 404
      CarboxypepD_reg; Carboxypeptidase regulatory-like domain

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1890523..1952816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329071.1 → XP_054185046.1  BOS complex subunit NOMO3 isoform X1

      UniProtKB/TrEMBL
      J3KN36

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      16238081..16300368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380321.1 → XP_054236296.1  BOS complex subunit NOMO3 isoform X1

      UniProtKB/TrEMBL
      J3KN36
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P69849.2 GenPept UniProtKB/Swiss-Prot:P69849

    Gene LinkOut

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