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    TM9SF4 transmembrane 9 superfamily member 4 [ Homo sapiens (human) ]

    Gene ID: 9777, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TM9SF4provided by HGNC
    Official Full Name
    transmembrane 9 superfamily member 4provided by HGNC
    Primary source
    HGNC:HGNC:30797
    See related
    Ensembl:ENSG00000101337 MIM:617727; AllianceGenome:HGNC:30797
    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
    dJ836N17.2
    Summary
    Involved in several processes, including positive regulation of protein localization; regulation of intracellular pH; and vacuolar proton-transporting V-type ATPase complex assembly. Located in Golgi apparatus and early endosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 20.7), brain (RPKM 16.4) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See TM9SF4 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32109714..32167256)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33834368..33891894)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30697517..30755059)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12774 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:30641518-30641717 Neighboring gene RNA, 5S ribosomal pseudogene 482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12776 Neighboring gene HCK proto-oncogene, Src family tyrosine kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30659475-30659975 Neighboring gene MPRA-validated peak4189 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30672211-30672710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30678826-30679621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30688747-30689248 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:30696834-30698033 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:30708941-30709834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17711 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30737033-30737924 Neighboring gene Sharpr-MPRA regulatory region 10464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30747197-30748088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30752983-30753483 Neighboring gene Sharpr-MPRA regulatory region 8915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30762883-30763484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30763485-30764084 Neighboring gene ribosomal L24 domain containing 1 pseudogene 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:30768259-30768439 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30769860-30770360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30776057-30776872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12777 Neighboring gene testis specific protein Y-linked 26, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Knockdown of TM9SF4 boosts ER stress to trigger cell death of chemoresistant breast cancer cells. Zhu Y, et al. Oncogene, 2019 Jul. PMID 31249383
    2. TM9SF4 levels determine sorting of transmembrane domains in the early secretory pathway. Vernay A, et al. J Cell Sci, 2018 Nov 5. PMID 30301779
    3. TM9SF4 is an F-actin disassembly factor that promotes tumor progression and metastasis. Meng Z, et al. Nat Commun, 2022 Sep 29. PMID 36175399, Free PMC Article
    4. The human homologue of Dictyostelium discoideum phg1A is expressed by human metastatic melanoma cells. Lozupone F, et al. EMBO Rep, 2009 Dec. PMID 19893578, Free PMC Article
    5. TM9SF4 Is a Crucial Regulator of Inflammation and ER Stress in Inflammatory Bowel Disease. Xie M, et al. Cell Mol Gastroenterol Hepatol, 2022. PMID 35398597, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TM9SF4 is an F-actin disassembly factor that promotes tumor progression and metastasis.
      Title: TM9SF4 is an F-actin disassembly factor that promotes tumor progression and metastasis.
    2. TM9SF4 Is a Crucial Regulator of Inflammation and ER Stress in Inflammatory Bowel Disease.
      Title: TM9SF4 Is a Crucial Regulator of Inflammation and ER Stress in Inflammatory Bowel Disease.
    3. results uncovered a novel role of TM9SF4 proteins in alleviating endoplasmic reticulum stress and protecting chemoresistant breast cancer cells from apoptotic/necrotic cell death
      Title: Knockdown of TM9SF4 boosts ER stress to trigger cell death of chemoresistant breast cancer cells.
    4. Results show that TM9SF4 controls the sorting of TMDs at the ER-Golgi interface. Remarkably, sorting of T-R1 in HCT116 cells was different from that in HEK cells: in HCT116 cells, a substantial fraction of T-R1 was localized to the Golgi complex, and it was relocated to the ER by genetic ablation of TM9SF4.
      Title: TM9SF4 levels determine sorting of transmembrane domains in the early secretory pathway.
    5. The TM9SF4 functions to facilitate mTOR inactivation, resulting in an enhanced autophagic flux, which serves to protect cells from apoptotic cell death.
      Title: TM9SF4 is a novel factor promoting autophagic flux under amino acid starvation.
    6. TM9SF4 is a direct target of HIF-1alpha, down-regulated in leukemic cells by hypoxia and involved in cell adhesion.
      Title: Human TM9SF4 Is a New Gene Down-Regulated by Hypoxia and Involved in Cell Adhesion of Leukemic Cells.
    7. Our study shows for the first time the important role of TM9SF4 in the aberrant constitutive activation of the V-ATPase, and the development of a malignant phenotype.
      Title: TM9SF4 is a novel V-ATPase-interacting protein that modulates tumor pH alterations associated with drug resistance and invasiveness of colon cancer cells.
    8. TM9SF4 is a new marker of malignancy, representing a potential new target for anti-tumour strategies with a specific role in tumour cannibalism and in the establishment of a metastatic phenotype.
      Title: The human homologue of Dictyostelium discoideum phg1A is expressed by human metastatic melanoma cells.
    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

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    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

    Clone Names

    • KIAA0255

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein exit from endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein localization to cell surface IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of intracellular pH IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vacuolar proton-transporting V-type ATPase complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 4
    Names
    dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 4
    transmembrane 9 superfamily protein member 4
    tumor cannibalism associated protein 1

    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_001363731.2 → NP_001350660.1  transmembrane 9 superfamily member 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL049539, BC021107, BM976438, D87444, DC377969
      Consensus CDS
      CCDS86943.1
      UniProtKB/TrEMBL
      A0A0C4DFM1, B4DKC1
      Related
      ENSP00000217315.5, ENST00000217315.9
      Conserved Domains (1) summary
      pfam02990
      Location:38 → 582
      EMP70; Endomembrane protein 70

    2. NM_014742.4 → NP_055557.2  transmembrane 9 superfamily member 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_055557.2

      Status: VALIDATED

      Source sequence(s)
      BC021107, BM976438, D87444, DC381660
      Consensus CDS
      CCDS13196.2
      UniProtKB/Swiss-Prot
      B0QYT7, Q92544, Q9NUA3
      UniProtKB/TrEMBL
      A0A024QYR3, B4DKC1
      Related
      ENSP00000381104.2, ENST00000398022.7
      Conserved Domains (1) summary
      pfam02990
      Location:55 → 599
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      32109714..32167256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028155.2 → XP_016883644.1  transmembrane 9 superfamily member 4 isoform X2

      UniProtKB/TrEMBL
      B4DKC1
      Conserved Domains (1) summary
      pfam02990
      Location:38 → 554
      EMP70; Endomembrane protein 70

    2. XM_017028154.2 → XP_016883643.1  transmembrane 9 superfamily member 4 isoform X1

      UniProtKB/TrEMBL
      B4DKC1
      Conserved Domains (1) summary
      pfam02990
      Location:55 → 571
      EMP70; Endomembrane protein 70

    3. XM_017028156.2 → XP_016883645.1  transmembrane 9 superfamily member 4 isoform X3

      UniProtKB/TrEMBL
      B4DH88, B4DKC1
      Conserved Domains (1) summary
      pfam02990
      Location:1 → 506
      EMP70; Endomembrane protein 70

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      33834368..33891894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324291.1 → XP_054180266.1  transmembrane 9 superfamily member 4 isoform X2

      UniProtKB/TrEMBL
      B4DKC1

    2. XM_054324290.1 → XP_054180265.1  transmembrane 9 superfamily member 4 isoform X1

      UniProtKB/TrEMBL
      B4DKC1

    3. XM_054324292.1 → XP_054180267.1  transmembrane 9 superfamily member 4 isoform X3

      UniProtKB/TrEMBL
      B4DH88, B4DKC1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92544.2 GenPept UniProtKB/Swiss-Prot:Q92544

    Gene LinkOut

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

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