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Aliases for TM9SF1 Gene

Aliases for TM9SF1 Gene

  • Transmembrane 9 Superfamily Member 1 2 3 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. Diseases associated with TM9SF1 include Fuchs' Endothelial Dystrophy and Corneal Disease. An important paralog of this gene is ENSG00000254692.

UniProtKB/Swiss-Prot for TM9SF1 Gene

  • Plays an essential role in autophagy.

Additional gene information for TM9SF1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TM9SF1 Gene

Genomics for TM9SF1 Gene

GeneHancer (GH) Regulatory Elements for TM9SF1 Gene

Promoters and enhancers for TM9SF1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I024194 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 566.2 -0.1 -141 3.5 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 TM9SF1 PIR45873 RNF31 TINF2 MDP1 SLC22A17 PSME2 KHNYN RNA5SP383 JPH4
GH14I023297 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.3 +895.0 895036 5.5 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 BCL2L2 HOMEZ PPP1R3E PIR57322 ACIN1 RNA5SP383 RNF31 LOC102724814 ENSG00000259321 RBM23
GH14I023566 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 22.5 +627.4 627413 3.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT MLX ZFP64 ARID4B NEUROD1 SIN3A AP1G2 KHNYN RNA5SP383 ACIN1 NGDN TM9SF1 MMP14 TINF2 PRMT5 C14orf93
GH14I024113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 24.5 +80.9 80896 3.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NRL DCAF11 RNF31 NFATC4 IPO4 HOMEZ RNA5SP383 TSSK4 TM9SF1 KHNYN
GH14I024230 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19 -37.2 -37238 4.2 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 NEDD8-MDP1 NEDD8 GMPR2 TM9SF1 RNA5SP383 KHNYN LOC102724814 TINF2 RNF31 MDP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TM9SF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TM9SF1 gene promoter:

Genomic Locations for TM9SF1 Gene

Genomic Locations for TM9SF1 Gene
6,594 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 isoforms=2178, isoforms=2401, and isoforms=559
  • Modification sites at PhosphoSitePlus

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 membrane proteins
  • Predicted secreted proteins

Protein Domains for TM9SF1 Gene


Suggested Antigen Peptide Sequences for TM9SF1 Gene

GenScript: Design optimal peptide antigens:

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

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

Phenotypes for TM9SF1 Gene

GenomeRNAi human phenotypes for TM9SF1:
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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TM9SF1 gene
Compartment Confidence
plasma membrane 3
lysosome 3
endoplasmic reticulum 1

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,IBA --
genes like me logo Genes that share ontologies with TM9SF1: view

Pathways & Interactions for TM9SF1 Gene

SuperPathways for TM9SF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TM9SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
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

Unigene Clusters for TM9SF1 Gene

Transmembrane 9 superfamily member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for

Expression for TM9SF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for TM9SF1 Gene

Protein tissue co-expression partners for TM9SF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TM9SF1 Gene:


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 33
  • 99.72 (n)
-- 34
  • 74 (a)
(Bos Taurus)
Mammalia -- 34
  • 98 (a)
TM9SF1 33
  • 94.06 (n)
(Canis familiaris)
Mammalia TM9SF1 33
  • 94.17 (n)
-- 34
  • 73 (a)
(Mus musculus)
Mammalia Tm9sf1 33 16 34
  • 92.96 (n)
(Rattus norvegicus)
Mammalia Tm9sf1 33
  • 92.64 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tm9sf1 33
  • 71.6 (n)
(Danio rerio)
Actinopterygii tm9sf1 33 34
  • 70.49 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10722 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMP70 34
  • 27 (a)
TMN2 34
  • 26 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G01970 33
  • 53.8 (n)
(Oryza sativa)
Liliopsida Os03g0237000 33
  • 53.74 (n)
Os.47365 33
(Zea mays)
Liliopsida Zm.17591 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4226 33
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)

Paralogs for TM9SF1 Gene

Paralogs for TM9SF1 Gene

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

Variants for TM9SF1 Gene

Sequence variations from dbSNP and Humsavar for TM9SF1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000071113 -- 24,188,974(-) A/C downstream_transcript_variant
rs1000173037 -- 24,191,135(-) G/A intron_variant
rs1001921706 -- 24,190,900(-) C/T intron_variant
rs1002039918 -- 24,192,105(-) A/C intron_variant
rs1002389168 -- 24,195,623(-) G/T 5_prime_UTR_variant

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

MalaCards: The human disease database

(2) MalaCards diseases for TM9SF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fuchs' endothelial dystrophy
  • fced
corneal disease
  • corneal diseases
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TM9SF1

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

No data available for 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 22 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. HIV-host interactome revealed directly from infected cells. (PMID: 27375898) Luo Y … Muesing MA (Nature microbiology 2016) 3 58

Products for TM9SF1 Gene

Sources for TM9SF1 Gene

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