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NOMO3 NODAL modulator 3 [ Homo sapiens (human) ]

Gene ID: 408050, updated on 3-Apr-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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Location:
16p13.11
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (16232528..16294811)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (16238081..16300368)
105.20220307 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
  • 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 (36) 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_2023_10

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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