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Aliases for TM6SF1 Gene

Aliases for TM6SF1 Gene

  • Transmembrane 6 Superfamily Member 1 2 3 5

External Ids for TM6SF1 Gene

Previous GeneCards Identifiers for TM6SF1 Gene

  • GC15P079702
  • GC15P076809
  • GC15P081354
  • GC15P081496
  • GC15P081567
  • GC15P083776
  • GC15P060039
  • GC15P083108
  • GC15P083109
  • GC15P083113
  • GC15P083116
  • GC15P083146
  • GC15P083162
  • GC15P083167

Summaries for TM6SF1 Gene

GeneCards Summary for TM6SF1 Gene

TM6SF1 (Transmembrane 6 Superfamily Member 1) is a Protein Coding gene. An important paralog of this gene is TM6SF2.

UniProtKB/Swiss-Prot for TM6SF1 Gene

  • May function as sterol isomerase.

Additional gene information for TM6SF1 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 TM6SF1 Gene

Genomics for TM6SF1 Gene

GeneHancer (GH) Regulatory Elements for TM6SF1 Gene

Promoters and enhancers for TM6SF1 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
GH15I083106 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.9 927 2.7 ATF1 SIN3A GLIS2 ATF7 REST ATF4 MYNN GLIS1 HMBOX1 KDM1A TM6SF1 ENSG00000260351 WHAMM ENSG00000260579
GH15I083060 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 -42.7 -42685 7.5 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 BTBD1 C15orf40 TM6SF1 SNHG21 FAM103A1 AP3B2 GOLGA6L9 WHAMM MIR4515 GC15P083174
GH15I083010 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.7 -95.9 -95947 2.8 HDGF CLOCK ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B C15orf40 GC15M083024 ENSG00000260608 PIR34182 FAM103A1 WHAMM ENSG00000260579 HOMER2 BTBD1 CPEB1-AS1
GH15I083069 Enhancer 0.9 Ensembl ENCODE 12.2 -38.1 -38068 0.3 NFATC3 ASH1L CHAMP1 CC2D1A ZNF316 VEZF1 NFYB FOS MAFK MAFG BTBD1 TM6SF1 FAM103A1 C15orf40 GC15P083164 ENSG00000260351 LOC105370928
GH15I083052 Enhancer 0.9 Ensembl ENCODE dbSUPER 12 -54.0 -53950 1.4 ZNF335 PRDM6 ZNF692 SCRT2 FOS FEZF1 TM6SF1 C15orf40 BTBD1 GOLGA6L10 GC15P083174 MIR4515 ENSG00000260351 ENSG00000260608 LOC105370928
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TM6SF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TM6SF1 gene promoter:

Genomic Locations for TM6SF1 Gene

Genomic Locations for TM6SF1 Gene
37,448 bases
Plus strand

Genomic View for TM6SF1 Gene

Genes around TM6SF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM6SF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM6SF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM6SF1 Gene

Proteins for TM6SF1 Gene

  • Protein details for TM6SF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transmembrane 6 superfamily member 1
    Protein Accession:
    Secondary Accessions:
    • A8K7T5
    • H3BU56
    • Q4U0U5

    Protein attributes for TM6SF1 Gene

    370 amino acids
    Molecular mass:
    41636 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TM6SF1 Gene


neXtProt entry for TM6SF1 Gene

Post-translational modifications for TM6SF1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TM6SF1 Gene

Domains & Families for TM6SF1 Gene

Gene Families for TM6SF1 Gene

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

Protein Domains for TM6SF1 Gene


Suggested Antigen Peptide Sequences for TM6SF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TM6SF family.
  • Belongs to the TM6SF family.
genes like me logo Genes that share domains with TM6SF1: view

Function for TM6SF1 Gene

Molecular function for TM6SF1 Gene

UniProtKB/Swiss-Prot Function:
May function as sterol isomerase.

Gene Ontology (GO) - Molecular Function for TM6SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with TM6SF1: view
genes like me logo Genes that share phenotypes with TM6SF1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TM6SF1 Gene

Localization for TM6SF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM6SF1 Gene

Lysosome 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 TM6SF1 gene
Compartment Confidence
lysosome 4
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TM6SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TM6SF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TM6SF1 Gene

Pathways & Interactions for TM6SF1 Gene

SuperPathways for TM6SF1 Gene

No Data Available

Interacting Proteins for TM6SF1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000317000 Q9BZW5-TM6S1_HUMAN for TM6SF1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TM6SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TM6SF1: view

No data available for Pathways by source and SIGNOR curated interactions for TM6SF1 Gene

Drugs & Compounds for TM6SF1 Gene

No Compound Related Data Available

Transcripts for TM6SF1 Gene

Unigene Clusters for TM6SF1 Gene

Transmembrane 6 superfamily member 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TM6SF1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - -
SP2: - - - - -
SP3: - - - - - -

Relevant External Links for TM6SF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TM6SF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TM6SF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TM6SF1 Gene

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for TM6SF1 Gene

This gene is overexpressed in Monocytes (31.0), Peripheral blood mononuclear cells (26.6), and Platelet (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TM6SF1 Gene

Protein tissue co-expression partners for TM6SF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TM6SF1 Gene:


SOURCE GeneReport for Unigene cluster for TM6SF1 Gene:


mRNA Expression by UniProt/SwissProt for TM6SF1 Gene:

Tissue specificity: Enhanced expression in spleen, testis and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for TM6SF1 Gene

  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with TM6SF1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TM6SF1 Gene

Orthologs for TM6SF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TM6SF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TM6SF1 33 34
  • 99.37 (n)
(Canis familiaris)
Mammalia TM6SF1 33 34
  • 94.14 (n)
(Bos Taurus)
Mammalia TM6SF1 33 34
  • 91.98 (n)
(Mus musculus)
Mammalia Tm6sf1 33 16 34
  • 89.64 (n)
(Rattus norvegicus)
Mammalia Tm6sf1 33
  • 88.6 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
-- 34
  • 77 (a)
(Monodelphis domestica)
Mammalia TM6SF1 34
  • 65 (a)
(Gallus gallus)
Aves TM6SF1 33 34
  • 77.3 (n)
(Anolis carolinensis)
Reptilia TM6SF1 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tm6sf1 33
  • 68.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2482 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5317 34
  • 29 (a)
-- 34
  • 24 (a)
Species where no ortholog for TM6SF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TM6SF1 Gene

Gene Tree for TM6SF1 (if available)
Gene Tree for TM6SF1 (if available)

Paralogs for TM6SF1 Gene

Paralogs for TM6SF1 Gene

(1) SIMAP similar genes for TM6SF1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with TM6SF1: view

Variants for TM6SF1 Gene

Sequence variations from dbSNP and Humsavar for TM6SF1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000095506 -- 83,132,257(+) T/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000125578 -- 83,135,458(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000244087 -- 83,107,583(+) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000577851 -- 83,106,050(+) C/T upstream_transcript_variant
rs1000650951 -- 83,130,590(+) T/A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TM6SF1 Gene

Variant ID Type Subtype PubMed ID
nsv1120052 OTHER inversion 24896259

Variation tolerance for TM6SF1 Gene

Residual Variation Intolerance Score: 31.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.87; 67.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TM6SF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TM6SF1 Gene

Disorders for TM6SF1 Gene

Additional Disease Information for TM6SF1

No disorders were found for TM6SF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TM6SF1 Gene

Publications for TM6SF1 Gene

  1. Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24-->q26 and 19p13.3-->p12. (PMID: 11124529) Carim-Todd L … Sumoy L (Cytogenetics and cell genetics 2000) 2 3 4 58
  2. Transmembrane 6 superfamily 1 (Tm6sf1) is a novel lysosomal transmembrane protein. (PMID: 25422095) Tam WY … Kwan KM (Protoplasma 2015) 3 58
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  4. TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease. (PMID: 25566323) Sanchez-Pulido L … Ponting CP (Frontiers in genetics 2014) 4 58
  5. Validation of DNA promoter hypermethylation biomarkers in breast cancer--a short report. (PMID: 25123395) de Groot JS … Moelans CB (Cellular oncology (Dordrecht) 2014) 3 58

Products for TM6SF1 Gene

Sources for TM6SF1 Gene

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