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    TM9SF1 transmembrane 9 superfamily member 1 [ Homo sapiens (human) ]

    Gene ID: 10548, updated on 9-Dec-2024

    Summary

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    Official Symbol
    TM9SF1provided by HGNC
    Official Full Name
    transmembrane 9 superfamily member 1provided by HGNC
    Primary source
    HGNC:HGNC:11864
    See related
    Ensembl:ENSG00000100926 MIM:618965; AllianceGenome:HGNC:11864
    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
    MP70; HMP70
    Summary
    Predicted to be involved in protein localization to membrane. Predicted to be located in autophagosome membrane; cytoplasmic vesicle; and lysosomal membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 24.3), prostate (RPKM 17.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TM9SF1 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24189149..24195441, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18387459..18393751, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24658355..24664647, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8192 Neighboring gene interferon regulatory factor 9 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24640701-24641201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8193 Neighboring gene REC8 meiotic recombination protein Neighboring gene importin 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:24657018-24657228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5630 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24664227-24664926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8195 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24669563-24670500 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:24671230-24672429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24672535-24673433 Neighboring gene testis specific serine kinase 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24682177-24682985 Neighboring gene charged multivesicular body protein 4A

    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. Cloning of a human multispanning membrane protein cDNA: evidence for a new protein family. Chluba-de Tapia J, et al. Gene, 1997 Sep 15. PMID 9332367
    2. High-throughput functional screening for autophagy-related genes and identification of TM9SF1 as an autophagosome-inducing gene. He P, et al. Autophagy, 2009 Jan. PMID 19029833
    3. 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
    4. ErbB2-associated changes in the lysosomal proteome. Nylandsted J, et al. Proteomics, 2011 Jul. PMID 21674799
    5. HSP27 and HSP70 interact with CD10 in C4-2 prostate cancer cells. Dall'Era MA, et al. Prostate, 2007 May 15. PMID 17342744

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The results of transmission electron microscopy and immunoblotting to examine LC3-II levels further confirmed the ability of TM9SF1 to induce autophagy.
      Title: High-throughput functional screening for autophagy-related genes and identification of TM9SF1 as an autophagosome-inducing gene.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TM9SF1; predicted interaction to be within the endoplasmic reticulum and involved in autophagy PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: IPO4

    Potential readthrough

    Included gene: CHMP4A

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in autophagosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 1
    Names
    MP70 protein family member
    multispanning membrane protein (70kD)
    transmembrane protein 9 superfamily member 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_001014842.3 → NP_001014842.1  transmembrane 9 superfamily member 1 isoform b precursor

      See identical proteins and their annotated locations for NP_001014842.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AW015727, BX161494, DB524698
      Consensus CDS
      CCDS41934.1
      UniProtKB/Swiss-Prot
      O15321
      Related
      ENSP00000380063.4, ENST00000396854.8
      Conserved Domains (1) summary
      pfam02990
      Location:58 → 475
      EMP70; Endomembrane protein 70

    2. NM_001289006.2 → NP_001275935.1  transmembrane 9 superfamily member 1 isoform c

      See identical proteins and their annotated locations for NP_001275935.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AK304642, AW452952, BX161390
      Consensus CDS
      CCDS73623.1
      UniProtKB/TrEMBL
      B4E3A9, G3V1B9
      Related
      ENSP00000434387.1, ENST00000524835.5
      Conserved Domains (1) summary
      pfam02990
      Location:1 → 475
      EMP70; Endomembrane protein 70

    3. NM_006405.7 → NP_006396.2  transmembrane 9 superfamily member 1 isoform a precursor

      See identical proteins and their annotated locations for NP_006396.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AW452952, BX161390
      Consensus CDS
      CCDS9617.1
      UniProtKB/Swiss-Prot
      D3DS65, O15321, Q86SZ6, Q96FI8
      UniProtKB/TrEMBL
      A8K7U5
      Related
      ENSP00000261789.4, ENST00000261789.9
      Conserved Domains (1) summary
      pfam02990
      Location:59 → 562
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24189149..24195441 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      490127..496419 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18387459..18393751 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15321.2 GenPept UniProtKB/Swiss-Prot:O15321

    Gene LinkOut

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

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