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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. An important paralog of this gene is ENSG00000254692.

UniProtKB/Swiss-Prot for TM9SF1 Gene

  • Plays an essential role in autophagy.

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

Regulatory Elements for TM9SF1 Gene

Enhancers for TM9SF1 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
GH14G024091 1.7 Ensembl ENCODE dbSUPER 10.7 +102.1 102090 6.5 MLX AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 RNA5SP383 KHNYN CARMIL3 C14orf119 NYNRIN DCAF11 NRL TM9SF1 IPO4 IRF9
GH14G024270 1.5 FANTOM5 ENCODE 10.9 -77.1 -77090 5.4 HDGF PKNOX1 MLX ARNT CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 DHRS1 TINF2 LTB4R KHNYN NEDD8-MDP1 NEDD8 NOP9 GMPR2 MDP1 ENSG00000254692
GH14G024277 1.4 FANTOM5 Ensembl ENCODE 11.1 -83.9 -83865 5.2 CTCF PKNOX1 USF1 NFIB MAX EBF1 RAD21 RELA RFX5 NFYB DHRS1 TINF2 NOP9 LTB4R2 LTB4R CIDEB GMPR2 NEDD8-MDP1 NEDD8 MDP1
GH14G024246 1.2 Ensembl ENCODE dbSUPER 11.2 -51.5 -51509 1.7 HDGF PKNOX1 MTA2 ASH2L JUNB RBBP5 DPF2 TBX21 EED IKZF1 CHMP4A RABGGTA NOP9 DHRS1 ENSG00000254692 MDP1 TM9SF1 IPO4 ADCY4 TSSK4
GH14G024108 1.3 Ensembl ENCODE 10.3 +86.9 86878 1.5 PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF2 ZNF48 YY1 ZNF121 SLC30A9 EMC9 CPNE6 CARMIL3 FITM1 PSME1 IRF9 RNF31 PSME2 TM9SF1 ENSG00000254692
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TM9SF1 on UCSC Golden Path with GeneCards custom track

Promoters for TM9SF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000066839 -164 1801 HDGF HNRNPUL1 PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1

Genomic Location for TM9SF1 Gene

Chromosome:
14
Start:
24,189,143 bp from pter
End:
24,195,736 bp from pter
Size:
6,594 bases
Orientation:
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:
    O15321-TM9S1_HUMAN
    Recommended name:
    Transmembrane 9 superfamily member 1
    Protein Accession:
    O15321
    Secondary Accessions:
    • D3DS65
    • Q86SZ6
    • Q96FI8

    Protein attributes for TM9SF1 Gene

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

    Alternative splice isoforms for TM9SF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TM9SF1 Gene

Post-translational modifications for TM9SF1 Gene

  • Glycosylation at isoforms=2178, Asn401, and Asn559
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TM9SF1 Gene

Domains & Families for TM9SF1 Gene

Gene Families for TM9SF1 Gene

Protein Domains for TM9SF1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TM9SF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15321

UniProtKB/Swiss-Prot:

TM9S1_HUMAN :
  • Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family.
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

Flow Cytometry 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

COMPARTMENTS
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

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

Transcripts for TM9SF1 Gene

Unigene Clusters for TM9SF1 Gene

Transmembrane 9 superfamily member 1:
Representative Sequences:

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
TM9SF1
ECgene alternative splicing isoforms for
TM9SF1

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:

TM9SF1

SOURCE GeneReport for Unigene cluster for TM9SF1 Gene:

Hs.91586

mRNA Expression by UniProt/SwissProt for TM9SF1 Gene:

O15321-TM9S1_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia TM9SF1 34
  • 99.72 (n)
-- 35
  • 74 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 98 (a)
OneToMany
TM9SF1 34
  • 94.06 (n)
dog
(Canis familiaris)
Mammalia TM9SF1 34
  • 94.17 (n)
-- 35
  • 73 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tm9sf1 34 16 35
  • 92.96 (n)
rat
(Rattus norvegicus)
Mammalia Tm9sf1 34
  • 92.64 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 90 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 87 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tm9sf1 34
  • 71.6 (n)
zebrafish
(Danio rerio)
Actinopterygii tm9sf1 34 35
  • 70.49 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10722 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMP70 35
  • 27 (a)
ManyToMany
TMN2 35
  • 26 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G01970 34
  • 53.8 (n)
rice
(Oryza sativa)
Liliopsida Os03g0237000 34
  • 53.74 (n)
Os.47365 34
corn
(Zea mays)
Liliopsida Zm.17591 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 62 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4226 34
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

ENSEMBL:
Gene Tree for TM9SF1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1000071113 -- 24,188,974(+) GCTGA(A/C)TCGCG intron-variant, upstream-variant-2KB
rs1000173037 -- 24,191,135(+) GCTGG(A/G)ATTAC intron-variant
rs1001921706 -- 24,190,900(+) TCTGT(C/T)GCCCA intron-variant, upstream-variant-2KB
rs1002039918 -- 24,192,105(+) CTGTG(A/C)CCAGC intron-variant
rs1002389168 -- 24,195,623(+) GGCTT(G/T)CCCCG utr-variant-5-prime

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)

Relevant External Links for TM9SF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TM9SF1

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

Disorders for TM9SF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TM9SF1 Gene - From: DISEASES and GeneCards

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

Relevant External Links for TM9SF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 A.N. (Gene 1997) 2 3 4 22 64
  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 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. ErbB2-associated changes in the lysosomal proteome. (PMID: 21674799) Nylandsted J. … JAoAottelAo M. (Proteomics 2011) 3 64

Products for TM9SF1 Gene

Sources for TM9SF1 Gene

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