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

Gene ID: 10548, updated on 3-Nov-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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 24.3), prostate (RPKM 17.5) and 25 other tissues See more
Orthologs
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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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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

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