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    TWSG1 twisted gastrulation BMP signaling modulator 1 [ Homo sapiens (human) ]

    Gene ID: 57045, updated on 17-Jun-2024

    Summary

    Official Symbol
    TWSG1provided by HGNC
    Official Full Name
    twisted gastrulation BMP signaling modulator 1provided by HGNC
    Primary source
    HGNC:HGNC:12429
    See related
    Ensembl:ENSG00000128791 MIM:605049; AllianceGenome:HGNC:12429
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TSG
    Summary
    Enables transforming growth factor beta binding activity. Involved in several processes, including negative regulation of CD4-positive, alpha-beta T cell proliferation; positive regulation of pathway-restricted SMAD protein phosphorylation; and transforming growth factor beta receptor signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in endometrium (RPKM 35.8), gall bladder (RPKM 26.4) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TWSG1 in Genome Data Viewer
    Location:
    18p11.22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (9334773..9402420)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (9497987..9565608)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (9334771..9402418)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 12 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:9335059-9335559 Neighboring gene TWSG1 divergent transcript Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50729 Neighboring gene uncharacterized LOC105371980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:9416837-9417784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13074 Neighboring gene NANOG hESC enhancer GRCh37_chr18:9453672-9454285 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:9475475-9476343 Neighboring gene ralA binding protein 1 Neighboring gene iroquois homeobox 4 pseudogene 1

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of CD4-positive, alpha-beta T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of CD4-positive, alpha-beta T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in salivary gland morphogenesis 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
     

    General protein information

    Preferred Names
    twisted gastrulation protein homolog 1
    Names
    twisted gastrulation homolog 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_020648.6NP_065699.1  twisted gastrulation protein homolog 1 precursor

      See identical proteins and their annotated locations for NP_065699.1

      Status: VALIDATED

      Source sequence(s)
      AP001033
      Consensus CDS
      CCDS11844.1
      UniProtKB/Swiss-Prot
      B2RE08, D3DUH9, Q8NBI7, Q96K46, Q9GZX9
      Related
      ENSP00000262120.5, ENST00000262120.10
      Conserved Domains (1) summary
      pfam04668
      Location:88222
      Tsg; Twisted gastrulation (Tsg) protein conserved region

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      9334773..9402420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437675.1XP_047293631.1  twisted gastrulation protein homolog 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      9497987..9565608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318866.1XP_054174841.1  twisted gastrulation protein homolog 1 isoform X1