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Aliases for ORMDL1 Gene

Aliases for ORMDL1 Gene

  • ORMDL Sphingolipid Biosynthesis Regulator 1 2 3 5
  • Adoplin-1 3 4
  • ORM1 (S. Cerevisiae)-Like 1 2
  • ORM1-Like 1 (S. Cerevisiae) 2
  • ORM1-Like Protein 1 3

External Ids for ORMDL1 Gene

Previous GeneCards Identifiers for ORMDL1 Gene

  • GC00U991061
  • GC02U900735
  • GC02M190460
  • GC02M190343
  • GC02M190634
  • GC02M182494

Summaries for ORMDL1 Gene

GeneCards Summary for ORMDL1 Gene

ORMDL1 (ORMDL Sphingolipid Biosynthesis Regulator 1) is a Protein Coding gene. Among its related pathways are Metabolism and Sphingolipid metabolism. An important paralog of this gene is ORMDL3.

UniProtKB/Swiss-Prot for ORMDL1 Gene

  • Negative regulator of sphingolipid synthesis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ORMDL1 Gene

Genomics for ORMDL1 Gene

Regulatory Elements for ORMDL1 Gene

Enhancers for ORMDL1 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
GH02F189782 0.5 ENCODE 56.3 +0.3 345 3.6 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ORMDL1 HNRNPCP2 OSGEPL1-AS1 OSGEPL1 WDR75 NEMP2 ASNSD1 PMS1 ENSG00000273240
GH02F189761 0.2 ENCODE 45.9 +21.5 21453 2.5 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 CBX5 ORMDL1 ASNSD1 OSGEPL1 OSGEPL1-AS1
GH02F189799 0.2 ENCODE 45.2 -15.3 -15337 1.0 JUND ZNF366 POLR2A JUNB FOS ORMDL1 LOC100421409
GH02F189660 0.8 ENCODE 41.6 +122.5 122487 2.3 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ORMDL1 ASNSD1 ANKAR
GH02F189673 0.2 ENCODE 35 +109.9 109856 2.4 ARID4B SIN3A DMAP1 ZNF48 YY1 CBX5 ELK1 ZNF143 ZNF207 ZNF263 ORMDL1 ANKAR LOC105373793
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ORMDL1 on UCSC Golden Path with GeneCards custom track

Promoters for ORMDL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000017733 371 3601 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for ORMDL1 Gene

Chromosome:
2
Start:
189,767,220 bp from pter
End:
189,784,371 bp from pter
Size:
17,152 bases
Orientation:
Minus strand

Genomic View for ORMDL1 Gene

Genes around ORMDL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ORMDL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ORMDL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ORMDL1 Gene

Proteins for ORMDL1 Gene

  • Protein details for ORMDL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0S3-ORML1_HUMAN
    Recommended name:
    ORM1-like protein 1
    Protein Accession:
    Q9P0S3
    Secondary Accessions:
    • B2R8W3
    • D3DPH9

    Protein attributes for ORMDL1 Gene

    Size:
    153 amino acids
    Molecular mass:
    17371 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ORMDL1 Gene

Post-translational modifications for ORMDL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ORMDL1 Gene

Domains & Families for ORMDL1 Gene

Protein Domains for ORMDL1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ORMDL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P0S3

UniProtKB/Swiss-Prot:

ORML1_HUMAN :
  • Belongs to the ORM family.
Family:
  • Belongs to the ORM family.
genes like me logo Genes that share domains with ORMDL1: view

No data available for Gene Families for ORMDL1 Gene

Function for ORMDL1 Gene

Molecular function for ORMDL1 Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of sphingolipid synthesis.
genes like me logo Genes that share phenotypes with ORMDL1: view

Animal Model 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 ORMDL1 Gene

Localization for ORMDL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ORMDL1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ORMDL1 Gene COMPARTMENTS Subcellular localization image for ORMDL1 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
plasma membrane 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ORMDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA,IDA 12093374
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035339 SPOTS complex IBA --
genes like me logo Genes that share ontologies with ORMDL1: view

Pathways & Interactions for ORMDL1 Gene

genes like me logo Genes that share pathways with ORMDL1: view

Pathways by source for ORMDL1 Gene

Gene Ontology (GO) - Biological Process for ORMDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006672 ceramide metabolic process IEA,IMP 20182505
GO:0090155 negative regulation of sphingolipid biosynthetic process IEA --
GO:0090156 cellular sphingolipid homeostasis IBA --
GO:1900060 negative regulation of ceramide biosynthetic process IMP 25691431
genes like me logo Genes that share ontologies with ORMDL1: view

No data available for SIGNOR curated interactions for ORMDL1 Gene

Transcripts for ORMDL1 Gene

Unigene Clusters for ORMDL1 Gene

ORM1-like 1 (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ORMDL1 Gene

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

ExUns: 6f
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ORMDL1 Gene

GeneLoc Exon Structure for
ORMDL1
ECgene alternative splicing isoforms for
ORMDL1

Expression for ORMDL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ORMDL1 Gene

Protein differential expression in normal tissues from HIPED for ORMDL1 Gene

This gene is overexpressed in Nasal epithelium (50.2) and Bone (14.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ORMDL1 Gene



Protein tissue co-expression partners for ORMDL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ORMDL1 Gene:

ORMDL1

SOURCE GeneReport for Unigene cluster for ORMDL1 Gene:

Hs.700632

mRNA Expression by UniProt/SwissProt for ORMDL1 Gene:

Q9P0S3-ORML1_HUMAN
Tissue specificity: Widely expressed. Expressed in adult and fetal heart, brain, lung, liver, skeletal muscle and kidney. Expressed in adult pancreas and placenta and in fetal spleen abd thymus. Expressed at intermediate level in pancreas, placenta and brain but low in skeletal muscle and lung.
genes like me logo Genes that share expression patterns with ORMDL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ORMDL1 Gene

Orthologs for ORMDL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ORMDL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ORMDL1 34 35
  • 99.78 (n)
cow
(Bos Taurus)
Mammalia ORMDL1 34 35
  • 96.3 (n)
dog
(Canis familiaris)
Mammalia ORMDL1 34 35
  • 94.12 (n)
mouse
(Mus musculus)
Mammalia Ormdl1 34 16 35
  • 91.29 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 96 (a)
OneToMany
ORMDL1 34
  • 81.26 (n)
-- 35
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia ORMDL1 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ormdl1 34
  • 78.65 (n)
zebrafish
(Danio rerio)
Actinopterygii ormdl1 34 35
  • 78.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta ORMDL 35
  • 47 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORM2 35 37
  • 25 (a)
ManyToMany
ORM1 35
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
OneToMany
Species where no ortholog for ORMDL1 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)

Evolution for ORMDL1 Gene

ENSEMBL:
Gene Tree for ORMDL1 (if available)
TreeFam:
Gene Tree for ORMDL1 (if available)

Paralogs for ORMDL1 Gene

Paralogs for ORMDL1 Gene

(2) SIMAP similar genes for ORMDL1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ORMDL1: view

Variants for ORMDL1 Gene

Sequence variations from dbSNP and Humsavar for ORMDL1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10168387 -- 189,782,382(+) TAAAC(C/T)TAAAA intron-variant, upstream-variant-2KB
rs10173868 -- 189,768,186(+) CTTCC(C/T)CTTCC intron-variant
rs10176506 -- 189,781,785(+) ctaaa(A/C)actac intron-variant
rs10197331 -- 189,768,112(+) ATAAA(A/C)ATGTG intron-variant
rs10197551 -- 189,775,336(+) GTCTA(A/G)GTGCA intron-variant

Variation tolerance for ORMDL1 Gene

Residual Variation Intolerance Score: 37.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ORMDL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ORMDL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ORMDL1 Gene

Disorders for ORMDL1 Gene

Relevant External Links for ORMDL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ORMDL1

No disorders were found for ORMDL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ORMDL1 Gene

Publications for ORMDL1 Gene

  1. A family of membrane proteins associated with presenilin expression and gamma-secretase function. (PMID: 17928364) Araki W. … Tabira T. (FASEB J. 2008) 3 4 22 64
  2. ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. (PMID: 12093374) Hjelmqvist L. … Gonzalez-Duarte R. (Genome Biol. 2002) 2 3 4 64
  3. Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis. (PMID: 23066021) Siow D.L. … Wattenberg B.W. (J. Biol. Chem. 2012) 2 3 64
  4. Orm family proteins mediate sphingolipid homeostasis. (PMID: 20182505) Breslow D.K. … Weissman J.S. (Nature 2010) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for ORMDL1 Gene

Sources for ORMDL1 Gene

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