Aliases for TM9SF1 Gene

Aliases for TM9SF1 Gene

  • Transmembrane 9 Superfamily Member 1 2 3 4 5
  • MP70 Protein Family Member 3 4
  • HMP70 3 4
  • Transmembrane Protein 9 Superfamily Member 1 3
  • Multispanning Membrane Protein (70kD) 3
  • MP70 3

External Ids for TM9SF1 Gene

Previous GeneCards Identifiers for TM9SF1 Gene

  • GC14M022030
  • GC14M018445
  • GC14M022648
  • GC14M023728
  • GC14M024658
  • GC14M004773

Summaries for TM9SF1 Gene

GeneCards Summary for TM9SF1 Gene

TM9SF1 (Transmembrane 9 Superfamily Member 1) is a Protein Coding gene. An important paralog of this gene is ENSG00000254692.

UniProtKB/Swiss-Prot Summary for TM9SF1 Gene

Additional gene information for TM9SF1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TM9SF1 Gene

Genomics for TM9SF1 Gene

GeneHancer (GH) Regulatory Elements for TM9SF1 Gene

Promoters and enhancers for TM9SF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TM9SF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TM9SF1

Top Transcription factor binding sites by QIAGEN in the TM9SF1 gene promoter:
  • c-Ets-1
  • GATA-1
  • Lmo2
  • NF-E2
  • Nkx2-5
  • Nkx5-1
  • PPAR-gamma1
  • PPAR-gamma2
  • RelA
  • RFX1

Genomic Locations for TM9SF1 Gene

Genomic Locations for TM9SF1 Gene
6,594 bases
Minus strand
24,331 bases
Minus strand

Genomic View for TM9SF1 Gene

Genes around TM9SF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM9SF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM9SF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM9SF1 Gene

Proteins for TM9SF1 Gene

  • Protein details for TM9SF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transmembrane 9 superfamily member 1
    Protein Accession:
    Secondary Accessions:
    • D3DS65
    • Q86SZ6
    • Q96FI8

    Protein attributes for TM9SF1 Gene

    606 amino acids
    Molecular mass:
    68861 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TM9SF1 Gene


neXtProt entry for TM9SF1 Gene

Post-translational modifications for TM9SF1 Gene

  • Glycosylation at Asn178, Asn401, and Asn559
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TM9S1_HUMAN (1841)

No data available for DME Specific Peptides for TM9SF1 Gene

Domains & Families for TM9SF1 Gene

Gene Families for TM9SF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for TM9SF1 Gene

  • Nonaspanin (TM9SF)

Suggested Antigen Peptide Sequences for TM9SF1 Gene

GenScript: Design optimal peptide antigens:
  • MP70 protein family member (TM9S1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family.
  • Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family.
genes like me logo Genes that share domains with TM9SF1: view

Function for TM9SF1 Gene

Molecular function for TM9SF1 Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role in autophagy.
GENATLAS Biochemistry:
transmembrane 9 superfamily,member 1,ubiquitously expressed

Phenotypes From GWAS Catalog for TM9SF1 Gene

genes like me logo Genes that share phenotypes with TM9SF1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TM9SF1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TM9SF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TM9SF1 Gene

Localization for TM9SF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM9SF1 Gene

Lysosome membrane; Multi-pass membrane protein. Cytoplasmic vesicle, autophagosome membrane; Multi-pass membrane protein.

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TM9SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000421 autophagosome membrane IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TM9SF1: view

No data available for Subcellular locations from COMPARTMENTS for TM9SF1 Gene

Pathways & Interactions for TM9SF1 Gene

PathCards logo

SuperPathways for TM9SF1 Gene

No Data Available

Interacting Proteins for TM9SF1 Gene


Gene Ontology (GO) - Biological Process for TM9SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0072657 protein localization to membrane IBA 21873635
genes like me logo Genes that share ontologies with TM9SF1: view

No data available for Pathways by source and SIGNOR curated interactions for TM9SF1 Gene

Drugs & Compounds for TM9SF1 Gene

No Compound Related Data Available

Transcripts for TM9SF1 Gene

mRNA/cDNA for TM9SF1 Gene

12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TM9SF1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TM9SF1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c
SP1: - - -
SP2: - - - - - - - - - - - - - -
SP3: - - -
SP4: - - - -
SP5: - -
SP6: -
SP7: -
SP8: - - - -
SP9: -
SP10: - -

Relevant External Links for TM9SF1 Gene

GeneLoc Exon Structure for

Expression for TM9SF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TM9SF1 Gene

Protein differential expression in normal tissues from HIPED for TM9SF1 Gene

This gene is overexpressed in Nasal epithelium (46.9) and Breast (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TM9SF1 Gene

Protein tissue co-expression partners for TM9SF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TM9SF1

SOURCE GeneReport for Unigene cluster for TM9SF1 Gene:


mRNA Expression by UniProt/SwissProt for TM9SF1 Gene:

Tissue specificity: Expressed in lung, pancreas, kidney, liver, placenta, skeletal muscle, heart and brain. The amount in skeletal muscle, heart and brain were considerably lower than in the other tissues.

Evidence on tissue expression from TISSUES for TM9SF1 Gene

  • Pancreas(4.2)
  • Blood(4.1)
  • Nervous system(3.6)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with TM9SF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TM9SF1 Gene

Orthologs for TM9SF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TM9SF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TM9SF1 30
  • 99.72 (n)
-- 31
  • 74 (a)
(Bos Taurus)
Mammalia -- 31
  • 98 (a)
TM9SF1 30
  • 94.06 (n)
(Canis familiaris)
Mammalia TM9SF1 30
  • 94.17 (n)
-- 31
  • 73 (a)
(Mus musculus)
Mammalia Tm9sf1 17 31 30
  • 92.96 (n)
(Rattus norvegicus)
Mammalia Tm9sf1 30
  • 92.64 (n)
(Monodelphis domestica)
Mammalia -- 31
  • 90 (a)
(Anolis carolinensis)
Reptilia -- 31
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tm9sf1 30
  • 71.6 (n)
(Danio rerio)
Actinopterygii tm9sf1 31 30
  • 70.49 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10722 30
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMP70 31
  • 27 (a)
TMN2 31
  • 26 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G01970 30
  • 53.8 (n)
(Oryza sativa)
Liliopsida Os03g0237000 30
  • 53.74 (n)
Os.47365 30
(Zea mays)
Liliopsida Zm.17591 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 62 (a)
Cin.4226 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4226 30
Species where no ortholog for TM9SF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TM9SF1 Gene

Gene Tree for TM9SF1 (if available)
Gene Tree for TM9SF1 (if available)
Evolutionary constrained regions (ECRs) for TM9SF1: view image

Paralogs for TM9SF1 Gene

Paralogs for TM9SF1 Gene

(9) SIMAP similar genes for TM9SF1 Gene using alignment to 11 proteins:

  • E9PL78_HUMAN
  • E9PP24_HUMAN
  • E9PS99_HUMAN
  • G3V1B9_HUMAN
genes like me logo Genes that share paralogs with TM9SF1: view

Variants for TM9SF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TM9SF1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs10583 - p.Arg215His
rs11549700 - p.Leu18Met

Additional dbSNP identifiers (rs#s) for TM9SF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TM9SF1 Gene

Variant ID Type Subtype PubMed ID
nsv1220 CNV insertion 18451855

Variation tolerance for TM9SF1 Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.02; 93.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TM9SF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TM9SF1 Gene

Disorders for TM9SF1 Gene

Additional Disease Information for TM9SF1

No disorders were found for TM9SF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TM9SF1 Gene

Publications for TM9SF1 Gene

  1. Cloning of a human multispanning membrane protein cDNA: evidence for a new protein family. (PMID: 9332367) Chluba-de Tapia J … Eberle AN (Gene 1997) 2 3 4 23 54
  2. High-throughput functional screening for autophagy-related genes and identification of TM9SF1 as an autophagosome-inducing gene. (PMID: 19029833) He P … Ma D (Autophagy 2009) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for TM9SF1 Gene

Sources for TM9SF1 Gene