Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 [ Homo sapiens (human) ]

    Gene ID: 94103, updated on 25-Sep-2016
    Official Symbol
    ORMDL3provided by HGNC
    Official Full Name
    ORMDL sphingolipid biosynthesis regulator 3provided by HGNC
    Primary source
    HGNC:HGNC:16038
    See related
    Ensembl:ENSG00000172057 HPRD:17803; MIM:610075; Vega:OTTHUMG00000133249
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Orthologs
    Location:
    17q12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (39921041..39927804, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38077294..38083884, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene zona pellucida binding protein 2 Neighboring gene gasdermin B Neighboring gene leucine rich repeat containing 3C Neighboring gene gasdermin A Neighboring gene proteasome 26S subunit, non-ATPase 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    NHGRI GWA Catalog
    Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.
    NHGRI GWA Catalog
    Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.
    NHGRI GWA Catalog
    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
    NHGRI GWA Catalog
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    NHGRI GWA Catalog
    Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    NHGRI GWA Catalog
    Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
    NHGRI GWA Catalog
    Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
    NHGRI GWA Catalog
    Genome-wide association study to identify genetic determinants of severe asthma.
    NHGRI GWA Catalog
    Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    NHGRI GWA Catalog
    Multiple loci are associated with white blood cell phenotypes.
    NHGRI GWA Catalog
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Sphingolipid de novo biosynthesis, organism-specific biosystem (from REACTOME)
      Sphingolipid de novo biosynthesis, organism-specific biosystemThe main steps involved in de novo sphingolipid synthesis are annotated here (Merrill 2002, Gault et al. 2010).
    • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
      Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular sphingolipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ceramide metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    SPOTS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001320801.1NP_001307730.1  ORM1-like protein 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AC090844, AF373101, AK093063, BU633754, DB054498
      Consensus CDS
      CCDS11355.1
      UniProtKB/Swiss-Prot
      Q8N138
      UniProtKB/TrEMBL
      A0A024R1W6
      Related
      ENSP00000377724, OTTHUMP00000164334, ENST00000394169, OTTHUMT00000257003
      Conserved Domains (1) summary
      pfam04061
      Location:11146
      ORMDL; ORMDL family
    2. NM_001320802.1NP_001307731.1  ORM1-like protein 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AC090844, BC071833, BU633754, HY004453, HY038741
      Consensus CDS
      CCDS11355.1
      UniProtKB/Swiss-Prot
      Q8N138
      UniProtKB/TrEMBL
      A0A024R1W6
      Related
      ENSP00000464693, OTTHUMP00000261708, ENST00000579695, OTTHUMT00000446836
      Conserved Domains (1) summary
      pfam04061
      Location:11146
      ORMDL; ORMDL family
    3. NM_001320803.1NP_001307732.1  ORM1-like protein 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AC090844, AF373101, BU633754, DB042662, DB054498
      Consensus CDS
      CCDS11355.1
      UniProtKB/Swiss-Prot
      Q8N138
      UniProtKB/TrEMBL
      A0A024R1W6
      Conserved Domains (1) summary
      pfam04061
      Location:11146
      ORMDL; ORMDL family
    4. NM_139280.3NP_644809.1  ORM1-like protein 3

      See identical proteins and their annotated locations for NP_644809.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AC090844, AF373101, BU633754, HY004453, HY038741
      Consensus CDS
      CCDS11355.1
      UniProtKB/Swiss-Prot
      Q8N138
      UniProtKB/TrEMBL
      A0A024R1W6
      Related
      ENSP00000304858, OTTHUMP00000164333, ENST00000304046, OTTHUMT00000257002
      Conserved Domains (1) summary
      pfam04061
      Location:11146
      ORMDL; ORMDL family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      39921041..39927804 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025348.1XP_016880837.1  

      Related
      ENSP00000464455, OTTHUMP00000261710, ENST00000584220, OTTHUMT00000446839
      Conserved Domains (1) summary
      pfam04061
      Location:11146
      ORMDL; ORMDL family
    2. XM_017025346.1XP_016880835.1  

      Conserved Domains (1) summary
      pfam04061
      Location:11146
      ORMDL; ORMDL family
    3. XM_017025347.1XP_016880836.1  

      Related
      ENSP00000464298, OTTHUMP00000261711, ENST00000584000, OTTHUMT00000446840
      Conserved Domains (1) summary
      pfam04061
      Location:11146
      ORMDL; ORMDL family
    4. XM_017025345.1XP_016880834.1  

      Conserved Domains (1) summary
      pfam04061
      Location:29164
      ORMDL; ORMDL family

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      38313000..38319763 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016471.2: Suppressed sequence

      Description
      NM_016471.2: This RefSeq was removed because it is primarily UTR sequence.
    Support Center