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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

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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TM6SF1 Gene

Genomics for TM6SF1 Gene

Regulatory Elements for TM6SF1 Gene

Enhancers for TM6SF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F083060 1.5 FANTOM5 ENCODE 12.2 -42.7 -42685 7.5 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 C15orf40 BTBD1 TM6SF1 FAM103A1 AP3B2 GOLGA6L9 WHAMM MIR4515 GC15P083147
GH15F083010 1.1 ENCODE 9.7 -95.9 -95948 2.8 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 DEK C15orf40 FAM103A1 SNHG21 RPL9P9 CPEB1 CPEB1-AS1 EFL1 AP3B2 WHAMM ENSG00000260579
GH15F083200 0.9 FANTOM5 ENCODE 11 +93.1 93054 1.5 ZNF664 MTA2 IKZF1 NBN ZBTB33 RELA BTBD1 C15orf40 TM6SF1 BNC1 AP3B2 ENSG00000260351 SH3GL3 HDGFRP3 LOC105370930
GH15F083178 0.8 ENCODE 11.3 +71.6 71648 1.1 PKNOX1 TBL1XR1 TAL1 TEAD4 RAD21 YY1 CHAMP1 ZFHX2 GATA2 POLR2A BTBD1 TM6SF1 C15orf40 LOC105370930 GC15M083134
GH15F083077 0.7 ENCODE 12.4 -29.2 -29201 1.6 CTCF PKNOX1 IRF2 FEZF1 RAD21 YY1 GATA3 FOS NR2F6 FOSL2 TM6SF1 FAM103A1 C15orf40 BTBD1 GC15P083114
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TM6SF1 on UCSC Golden Path with GeneCards custom track

Promoters for TM6SF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001454503 493 2201 HDAC1 CBX3 ATF1 TBL1XR1 CREB3L1 ZBTB40 ETV6 ZNF263 SMARCA5 ZBTB11

Genomic Location for TM6SF1 Gene

83,107,407 bp from pter
83,144,854 bp from pter
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

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



  • Contains 2 EXPERA domains.
  • Belongs to the TM6SF family.
  • Contains 2 EXPERA domains.
  • Belongs to the TM6SF family.
genes like me logo Genes that share domains with TM6SF1: view

No data available for Gene Families for TM6SF1 Gene

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 --
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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

Transcripts for TM6SF1 Gene

Unigene Clusters for TM6SF1 Gene

Transmembrane 6 superfamily member 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with TM6SF1: view

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 34 35
  • 99.37 (n)
(Canis familiaris)
Mammalia TM6SF1 34 35
  • 94.14 (n)
(Bos Taurus)
Mammalia TM6SF1 34 35
  • 91.98 (n)
(Mus musculus)
Mammalia Tm6sf1 34 16 35
  • 89.64 (n)
(Rattus norvegicus)
Mammalia Tm6sf1 34
  • 88.6 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 86 (a)
-- 35
  • 77 (a)
(Monodelphis domestica)
Mammalia TM6SF1 35
  • 65 (a)
(Gallus gallus)
Aves TM6SF1 34 35
  • 77.3 (n)
(Anolis carolinensis)
Reptilia TM6SF1 35
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tm6sf1 34
  • 68.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2482 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5317 35
  • 29 (a)
-- 35
  • 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 Sequence Context AA Info Type
rs10152258 -- 83,107,063(+) GGTGA(C/G)TGGAG upstream-variant-2KB
rs1062232 -- 83,107,730(+) GGCCA(C/T)CCCGG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1075619 -- 83,112,722(+) ATGCA(C/T)TCAAT intron-variant, downstream-variant-500B
rs111313714 -- 83,145,871(+) TTTTT(C/T)TTCTC intron-variant, downstream-variant-500B
rs111654799 -- 83,139,473(+) AAGGA(A/G)ATCCT 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)

Relevant External Links 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

Relevant External Links for TM6SF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

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. (Cytogenet. Cell Genet. 2000) 2 3 4 64
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  3. TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease. (PMID: 25566323) Sanchez-Pulido L. … Ponting C.P. (Front. Genet. 2014) 4 64
  4. Validation of DNA promoter hypermethylation biomarkers in breast cancer--a short report. (PMID: 25123395) de Groot J.S. … Moelans C.B. (Cell Oncol (Dordr) 2014) 3 64
  5. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody M.C. … Nusbaum C. (Nature 2006) 4 64

Products for TM6SF1 Gene

Sources for TM6SF1 Gene

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