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    TM9SF3 transmembrane 9 superfamily member 3 [ Homo sapiens (human) ]

    Gene ID: 56889, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TM9SF3provided by HGNC
    Official Full Name
    transmembrane 9 superfamily member 3provided by HGNC
    Primary source
    HGNC:HGNC:21529
    See related
    Ensembl:ENSG00000077147 MIM:616872; AllianceGenome:HGNC:21529
    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
    SMBP; EP70-P-iso
    Summary
    Predicted to be involved in protein localization to membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in stomach (RPKM 69.3), colon (RPKM 62.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TM9SF3 in Genome Data Viewer
    Location:
    10q24.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (96518110..96587012, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (97399249..97468166, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (98277867..98346769, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98104629-98105395 Neighboring gene oligodendrocytic myelin paranodal and inner loop protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98138703-98139212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98156871-98157399 Neighboring gene tolloid like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98201903-98202541 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98210491-98210992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98246593-98247092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:98262485-98262985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98265857-98266640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98271755-98272274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98331950-98332450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98332451-98332951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98339518-98340092 Neighboring gene nucleophosmin 1 pseudogene 26 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2654 Neighboring gene uncharacterized LOC105378443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2655 Neighboring gene phosphoinositide-3-kinase adaptor protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 324

    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. Identification of novel transmembrane proteins in scirrhous-type gastric cancer by the Escherichia coli ampicillin secretion trap (CAST) method: TM9SF3 participates in tumor invasion and serves as a prognostic factor. Oo HZ, et al. Pathobiology, 2014. PMID 24642718
    2. The iodocyanopindolol and SM-11044 binding protein belongs to the TM9SF multispanning membrane protein superfamily. Sugasawa T, et al. Gene, 2001 Aug 8. PMID 11595169
    3. miR-1193 Suppresses the Proliferation and Invasion of Human T-Cell Leukemia Cells Through Directly Targeting the Transmembrane 9 Superfamily 3 (TM9SF3). Shen L, et al. Oncol Res, 2017 Nov 2. PMID 28390114, Free PMC Article
    4. LUBAC assembles a ubiquitin signaling platform at mitochondria for signal amplification and transport of NF-κB to the nucleus. Wu Z, et al. EMBO J, 2022 Dec 15. PMID 36398858, Free PMC Article
    5. Stasimon/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic development. Van Alstyne M, et al. Biochem Biophys Res Commun, 2018 Nov 30. PMID 30352685, Free PMC Article

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Authors confirmed that TM9SF3 was a target gene of miR-1193 by luciferase reporter gene assay. Gene overexpression and knockdown experiments in Jurkat cells revealed that TM9SF3 positively regulated cell proliferation and invasion.
      Title: miR-1193 Suppresses the Proliferation and Invasion of Human T-Cell Leukemia Cells Through Directly Targeting the Transmembrane 9 Superfamily 3 (TM9SF3).
    2. TM9SF3 participates in tumor invasion and serves as a prognostic factor.
      Title: Identification of novel transmembrane proteins in scirrhous-type gastric cancer by the Escherichia coli ampicillin secretion trap (CAST) method: TM9SF3 participates in tumor invasion and serves as a prognostic factor.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    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

    Process Evidence Code Pubs
    involved_in protein localization to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane 9 superfamily member 3
    Names
    SM-11044-binding protein
    dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 3
    endomembrane protein emp70 precursor isolog

    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_020123.4 → NP_064508.3  transmembrane 9 superfamily member 3 precursor

      See identical proteins and their annotated locations for NP_064508.3

      Status: VALIDATED

      Source sequence(s)
      AL138765, BC136788
      Consensus CDS
      CCDS7450.1
      UniProtKB/Swiss-Prot
      Q5TB57, Q6UWE7, Q9HD45, Q9NWL8, Q9P0G9, Q9UHW8
      UniProtKB/TrEMBL
      A0A024QYS2, Q8WUB5
      Related
      ENSP00000360184.4, ENST00000371142.9
      Conserved Domains (1) summary
      pfam02990
      Location:58 → 527
      EMP70; Endomembrane protein 70

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      96518110..96587012 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539976.3 → XP_011538278.1  transmembrane 9 superfamily member 3 isoform X1

      UniProtKB/TrEMBL
      Q8WUB5
      Related
      ENST00000649367.1
      Conserved Domains (1) summary
      pfam02990
      Location:75 → 545
      EMP70; Endomembrane protein 70

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      97399249..97468166 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366365.1 → XP_054222340.1  transmembrane 9 superfamily member 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HD45.2 GenPept UniProtKB/Swiss-Prot:Q9HD45

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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