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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. Diseases associated with ORMDL1 include Retinitis Pigmentosa 26. 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.

Additional gene information for ORMDL1 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 ORMDL1 Gene

Genomics for ORMDL1 Gene

GeneHancer (GH) Regulatory Elements for ORMDL1 Gene

Promoters and enhancers for ORMDL1 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
GH02J189782 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 706.3 +0.3 345 3.6 HDGF PKNOX1 SMAD1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ORMDL1 PMS1 ANKAR HNRNPCP2 OSGEPL1-AS1 OSGEPL1 WDR75 NEMP2 ASNSD1 ENSG00000273240
GH02J189761 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 46 +21.5 21452 2.5 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B ENSG00000273240 OSGEPL1 OSGEPL1-AS1 ORMDL1 ASNSD1 ANKAR
GH02J189660 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 41.6 +122.5 122486 2.3 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 ASNSD1 ASDURF ORMDL1 ANKAR
GH02J189440 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 38.5 +342.9 342942 2.3 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B WDR75 COL5A2 LOC101927252 ORMDL1 PMS1 HNRNPCP2 ANKAR LOC100420666
GH02J189673 Promoter/Enhancer 1.5 Ensembl ENCODE 46.4 +109.9 109856 2.4 ARID4B SIN3A DMAP1 IRF4 ZNF48 YY1 ELK1 ZNF207 ZNF143 RUNX3 ANKAR LOC105373793 ORMDL1 NEMP2 COL3A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ORMDL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ORMDL1 gene promoter:
  • c-Myb
  • Ik-1
  • YY1
  • GATA-3
  • GATA-1
  • GATA-2
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2

Genomic Locations for ORMDL1 Gene

Genomic Locations for ORMDL1 Gene
17,152 bases
Minus strand
14,105 bases
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:
    Recommended name:
    ORM1-like protein 1
    Protein Accession:
    Secondary Accessions:
    • B2R8W3
    • D3DPH9

    Protein attributes for ORMDL1 Gene

    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

Gene Families for ORMDL1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ORMDL1 Gene


Suggested Antigen Peptide Sequences for ORMDL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

Function for ORMDL1 Gene

Molecular function for ORMDL1 Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of sphingolipid synthesis.

Phenotypes From GWAS Catalog for ORMDL1 Gene

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

Animal Model Products

Clone 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

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 ORMDL1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ORMDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
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 IMP,IEA 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

Drugs & Compounds for ORMDL1 Gene

No Compound Related Data Available

Transcripts for ORMDL1 Gene

Unigene Clusters for ORMDL1 Gene

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

Clone 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: - - - - -
SP11: - - - - - - - - - - -

ExUns: 6f

Relevant External Links for ORMDL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ORMDL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, MaxQB, and MOPED for ORMDL1 Gene

Protein tissue co-expression partners for ORMDL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ORMDL1 Gene:


SOURCE GeneReport for Unigene cluster for ORMDL1 Gene:


mRNA Expression by UniProt/SwissProt for ORMDL1 Gene:

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.

Evidence on tissue expression from TISSUES for ORMDL1 Gene

  • Nervous system(4.7)
  • Eye(4.2)
  • Blood(4.1)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with ORMDL1: 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 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
(Pan troglodytes)
Mammalia ORMDL1 34 33
  • 99.78 (n)
(Bos Taurus)
Mammalia ORMDL1 34 33
  • 96.3 (n)
(Canis familiaris)
Mammalia ORMDL1 34 33
  • 94.12 (n)
(Mus musculus)
Mammalia Ormdl1 16 34 33
  • 91.29 (n)
(Gallus gallus)
Aves -- 34
  • 96 (a)
  • 81.26 (n)
-- 34
  • 57 (a)
(Anolis carolinensis)
Reptilia ORMDL1 34
  • 97 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ormdl1 33
  • 78.65 (n)
(Danio rerio)
Actinopterygii ormdl1 34 33
  • 78.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta ORMDL 34
  • 47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORM2 36 34
  • 25 (a)
ORM1 34
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 63 (a)
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

Gene Tree for ORMDL1 (if available)
Gene Tree for ORMDL1 (if available)
Evolutionary constrained regions (ECRs) for ORMDL1: view image

Paralogs for ORMDL1 Gene

Paralogs for ORMDL1 Gene

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

  • B9A069_HUMAN
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 Variation AA Info Type
rs147002700 uncertain-significance, Lynch syndrome 189,784,458(-) G/A upstream_transcript_variant
rs534415170 uncertain-significance, Lynch syndrome 189,784,340(-) T/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs547545719 uncertain-significance, Lynch syndrome 189,784,348(-) G/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs5742926 likely-benign, Lynch syndrome 189,784,079(-) G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs5742927 likely-benign, Lynch syndrome 189,784,133(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_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)

Additional Variant Information for ORMDL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

MalaCards: The human disease database

(1) MalaCards diseases for ORMDL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 26
  • rp26
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ORMDL1

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

No data available for 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 journal : official publication of the Federation of American Societies for Experimental Biology 2008) 3 4 22 58
  2. ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. (PMID: 12093374) Hjelmqvist L … Gonzàlez-Duarte R (Genome biology 2002) 2 3 4 58
  3. Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis. (PMID: 23066021) Siow DL … Wattenberg BW (The Journal of biological chemistry 2012) 2 3 58
  4. Orm family proteins mediate sphingolipid homeostasis. (PMID: 20182505) Breslow DK … Weissman JS (Nature 2010) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ORMDL1 Gene

Sources for ORMDL1 Gene

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