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Aliases for STOML1 Gene

Aliases for STOML1 Gene

  • Stomatin Like 1 2 3 5
  • Stomatin-Related Protein 3 4
  • Stomatin (EBP72)-Like 1 2 3
  • Stomatin (EPB72)-Like 1 2 3
  • Protein Unc-24 Homolog 3 4
  • EPB72-Like Protein 1 3 4
  • EPB72-Like 1 2 3
  • SLP-1 3 4
  • STORP 3 4
  • Stomatin-Like Protein 1 3
  • Stomatin-Like 1 2
  • HUNC-24 3
  • UNC24 4
  • SLP1 4

External Ids for STOML1 Gene

Previous GeneCards Identifiers for STOML1 Gene

  • GC15M070296
  • GC15M067391
  • GC15M071851
  • GC15M071991
  • GC15M072062
  • GC15M074275
  • GC15M051107

Summaries for STOML1 Gene

GeneCards Summary for STOML1 Gene

STOML1 (Stomatin Like 1) is a Protein Coding gene. An important paralog of this gene is STOM.

UniProtKB/Swiss-Prot for STOML1 Gene

  • May play a role in cholesterol transfer to late endosomes (PubMed:19696025). May play a role in modulating membrane acid-sensing ion channels. Can specifically inhibit proton-gated current of ASIC1 isoform 1. Can increase inactivation speed of ASIC3. May be involved in regulation of proton sensing in dorsal root ganglions (By similarity). May play a role in protecting FBXW7 isoform 3 from degradation (PubMed:23082202).

Gene Wiki entry for STOML1 Gene

Additional gene information for STOML1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STOML1 Gene

Genomics for STOML1 Gene

GeneHancer (GH) Regulatory Elements for STOML1 Gene

Promoters and enhancers for STOML1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J073993 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 662.3 -1.4 -1373 4.2 HDGF PKNOX1 ARID4B SIN3A GLI4 YY1 ETS1 TCF12 ZNF121 GLIS2 STOML1 PML LOXL1-AS1 GC15M074020
GH15J073986 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 663.4 +4.8 4842 6.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 ZNF766 STOML1 EDC3 UBL7-AS1 CLK3 LOC101929333 C15orf59 LOXL1-AS1
GH15J073964 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 24.9 +29.0 28969 2.6 HDGF PKNOX1 RB1 KLF17 SIN3A BATF ZNF2 KLF5 IRF4 ZNF48 STOML1 PML EDC3 LOC101929333 TBC1D21 LOXL1 CLK3 C15orf59 LOXL1-AS1
GH15J073955 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 21.2 +37.9 37886 2.7 USF1 JUN MAX ZMYM3 ZFHX2 POLR2A RCOR1 FOSL2 FOS CHD2 PML STOML1 LOXL1 LOXL1-AS1
GH15J073950 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.6 +42.8 42811 3.5 HDGF ARID4B SIN3A ZNF2 ZNF48 GLIS2 ZNF143 RUNX3 RXRA MIER2 LOXL1 STOML1 PML EDC3 STRA6 LOXL1-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STOML1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STOML1 gene promoter:
  • STAT3
  • AML1a

Genomic Locations for STOML1 Gene

Genomic Locations for STOML1 Gene
chr15:73,978,923-73,994,622
(GRCh38/hg38)
Size:
15,700 bases
Orientation:
Minus strand
chr15:74,275,547-74,286,963
(GRCh37/hg19)
Size:
11,417 bases
Orientation:
Minus strand

Genomic View for STOML1 Gene

Genes around STOML1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STOML1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STOML1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STOML1 Gene

Proteins for STOML1 Gene

  • Protein details for STOML1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBI4-STML1_HUMAN
    Recommended name:
    Stomatin-like protein 1
    Protein Accession:
    Q9UBI4
    Secondary Accessions:
    • B3KQN0
    • B4DUU5
    • B4DXM9
    • E7ESC0
    • H3BRP3
    • O95675
    • Q4PNR4
    • Q6FGL8
    • Q8WYI7
    • Q9UMB9
    • Q9UMC0
    • Q9Y6H9

    Protein attributes for STOML1 Gene

    Size:
    398 amino acids
    Molecular mass:
    42968 Da
    Quaternary structure:
    • Interacts with STOM; may redistribute STOM from the plasma membrane to late endosomes (PubMed:19696025). Interacts with FBXW7 isoform 3 and CDK2 (PubMed:23082202).
    SequenceCaution:
    • Sequence=AAD42031.1; Type=Frameshift; Positions=201, 210; Evidence={ECO:0000305}; Sequence=CAA76271.1; Type=Frameshift; Positions=230, 233, 263, 292, 300; Evidence={ECO:0000305};

    Alternative splice isoforms for STOML1 Gene

neXtProt entry for STOML1 Gene

Post-translational modifications for STOML1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for STOML1 Gene

Domains & Families for STOML1 Gene

Gene Families for STOML1 Gene

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

Protein Domains for STOML1 Gene

Suggested Antigen Peptide Sequences for STOML1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBI4

UniProtKB/Swiss-Prot:

STML1_HUMAN :
  • Belongs to the band 7/mec-2 family.
Family:
  • Belongs to the band 7/mec-2 family.
genes like me logo Genes that share domains with STOML1: view

Function for STOML1 Gene

Molecular function for STOML1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cholesterol transfer to late endosomes (PubMed:19696025). May play a role in modulating membrane acid-sensing ion channels. Can specifically inhibit proton-gated current of ASIC1 isoform 1. Can increase inactivation speed of ASIC3. May be involved in regulation of proton sensing in dorsal root ganglions (By similarity). May play a role in protecting FBXW7 isoform 3 from degradation (PubMed:23082202).

Phenotypes From GWAS Catalog for STOML1 Gene

Gene Ontology (GO) - Molecular Function for STOML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 19696025
genes like me logo Genes that share ontologies with STOML1: view
genes like me logo Genes that share phenotypes with STOML1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for STOML1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STOML1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for STOML1 Gene

Localization for STOML1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STOML1 Gene

Membrane; Single-pass type III membrane protein. Late endosome membrane. Membrane raft. Cell membrane; Single-pass type III membrane protein. Cytoplasmic vesicle.

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 STOML1 gene
Compartment Confidence
plasma membrane 4
cytosol 3
endosome 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for STOML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with STOML1: view

Pathways & Interactions for STOML1 Gene

SuperPathways for STOML1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for STOML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with STOML1: view

No data available for Pathways by source and SIGNOR curated interactions for STOML1 Gene

Drugs & Compounds for STOML1 Gene

No Compound Related Data Available

Transcripts for STOML1 Gene

Unigene Clusters for STOML1 Gene

Stomatin (EPB72)-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STOML1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for STOML1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - - - - - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: - - -
SP10: - - -
SP11: - - - - - - - - - - -
SP12:
SP13: -

ExUns: 10c · 10d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for STOML1 Gene

GeneLoc Exon Structure for
STOML1
ECgene alternative splicing isoforms for
STOML1

Expression for STOML1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STOML1 Gene

Protein differential expression in normal tissues from HIPED for STOML1 Gene

This gene is overexpressed in Bone (64.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STOML1 Gene



Protein tissue co-expression partners for STOML1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STOML1 Gene:

STOML1

SOURCE GeneReport for Unigene cluster for STOML1 Gene:

Hs.194816

mRNA Expression by UniProt/SwissProt for STOML1 Gene:

Q9UBI4-STML1_HUMAN
Tissue specificity: Ubiquitously expressed at low levels. Expression is highest in brain.

Evidence on tissue expression from TISSUES for STOML1 Gene

  • Nervous system(4.9)
  • Thyroid gland(4.2)
  • Intestine(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with STOML1: 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 STOML1 Gene

Orthologs for STOML1 Gene

This gene was present in the common ancestor of animals.

Orthologs for STOML1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STOML1 34 33
  • 99.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia STOML1 34 33
  • 89.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STOML1 34 33
  • 88.42 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stoml1 33
  • 86.53 (n)
mouse
(Mus musculus)
Mammalia Stoml1 16 34 33
  • 86.15 (n)
oppossum
(Monodelphis domestica)
Mammalia STOML1 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STOML1 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves STOML1 34 33
  • 72.07 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stoml1 33
  • 54.63 (n)
zebrafish
(Danio rerio)
Actinopterygii stoml1 34 33
  • 59.59 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31358 34
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-24 34 33
  • 40.59 (n)
OneToOne
Species where no ortholog for STOML1 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for STOML1 Gene

ENSEMBL:
Gene Tree for STOML1 (if available)
TreeFam:
Gene Tree for STOML1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STOML1: view image

Paralogs for STOML1 Gene

Paralogs for STOML1 Gene

(2) SIMAP similar genes for STOML1 Gene using alignment to 8 proteins:

  • STML1_HUMAN
  • B4DUU5_HUMAN
  • E7ESC0_HUMAN
  • H3BPC1_HUMAN
  • H3BQA9_HUMAN
  • H3BRP3_HUMAN
  • H3BST3_HUMAN
  • H3BVF2_HUMAN
genes like me logo Genes that share paralogs with STOML1: view

Variants for STOML1 Gene

Sequence variations from dbSNP and Humsavar for STOML1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000490083 -- 73,983,130(-) A/G downstream_transcript_variant
rs1000500043 -- 73,995,711(-) T/A upstream_transcript_variant
rs1000604037 -- 73,988,113(-) G/C intron_variant
rs1000676246 -- 73,988,417(-) C/A intron_variant
rs1000841062 -- 73,983,407(-) C/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for STOML1 Gene

Variant ID Type Subtype PubMed ID
esv2760040 CNV gain+loss 17122850
nsv1121512 CNV deletion 24896259
nsv428308 CNV gain+loss 18775914
nsv833052 CNV gain+loss 17160897

Variation tolerance for STOML1 Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 25.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STOML1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STOML1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STOML1 Gene

Disorders for STOML1 Gene

Additional Disease Information for STOML1

No disorders were found for STOML1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for STOML1 Gene

Publications for STOML1 Gene

  1. Molecular cloning of hSLP-1, a novel human brain-specific member of the band 7/MEC-2 family similar to Caenorhabditis elegans UNC-24. (PMID: 9931417) Seidel G … Prohaska R (Gene 1998) 2 3 4 22 58
  2. Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes. (PMID: 19696025) Mairhofer M … Prohaska R (The Journal of biological chemistry 2009) 3 4 22 58
  3. A novel gene STORP (STOmatin-Related Protein) is localized 2 kb upstream of the promyelocytic gene on chromosome 15q22. (PMID: 10997330) Gilles F … Zelenetz AD (European journal of haematology 2000) 3 4 22 58
  4. The stomatin-like protein SLP-1 and Cdk2 interact with the F-Box protein Fbw7-γ. (PMID: 23082202) Zhang W … Koepp DM (PloS one 2012) 3 4 58
  5. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58

Products for STOML1 Gene

Sources for STOML1 Gene

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