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ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 [ Homo sapiens (human) ]

Gene ID: 94101, updated on 7-Apr-2024

Summary

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Official Symbol
ORMDL1provided by HGNC
Official Full Name
ORMDL sphingolipid biosynthesis regulator 1provided by HGNC
Primary source
HGNC:HGNC:16036
See related
Ensembl:ENSG00000128699 MIM:610073; AllianceGenome:HGNC:16036
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
Summary
Involved in ceramide metabolic process. Acts upstream of or within negative regulation of ceramide biosynthetic process. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 13.3), lymph node (RPKM 13.0) and 25 other tissues See more
Orthologs
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Genomic context

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See ORMDL1 in Genome Data Viewer
Location:
2q32.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (189763859..189784339, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190253126..190273622, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190628585..190649065, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16852 Neighboring gene ankyrin and armadillo repeat containing Neighboring gene O-sialoglycoprotein endopeptidase like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:190627447-190628193 Neighboring gene OSGEPL1 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:190648352-190649238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16857 Neighboring gene PMS1 homolog 1, mismatch repair system component Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene Neighboring gene uncharacterized LOC105373796 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:190727824-190728081

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Expression Patterns and Prognostic Values of ORMDL1 in Different Cancers. Zhu T, et al. Biomed Res Int, 2020. PMID 33145351, Free PMC Article
  2. A family of membrane proteins associated with presenilin expression and gamma-secretase function. Araki W, et al. FASEB J, 2008 Mar. PMID 17928364
  3. ORMDL proteins regulate ceramide levels during sterile inflammation. Cai L, et al. J Lipid Res, 2016 Aug. PMID 27313060, Free PMC Article
  4. Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells. Gupta SD, et al. J Biol Chem, 2015 Jan 2. PMID 25395622, Free PMC Article
  5. Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis. Siow DL, et al. J Biol Chem, 2012 Nov 23. PMID 23066021, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expression Patterns and Prognostic Values of ORMDL1 in Different Cancers.
    Title: Expression Patterns and Prognostic Values of ORMDL1 in Different Cancers.
  2. ORMDL1 downregulation modestly increased levels of sphingosine, S1P, and ceramide in HepG2 cells.
    Title: ORMDL proteins regulate ceramide levels during sterile inflammation.
  3. Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.
    Title: Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.
  4. ORMDL1, ORMDL2 and ORMDL3 mediate the feedback response in ceramide biosynthesis.
    Title: Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis.
  5. Adoplin-1/ORMDL-1 displays reduced expression in association with presenilin mutations; Adoplin-1 & two highly homologous genes (adoplin-2, -3) are a gene family that encodes transmembrane proteins that may play roles in gamma-secretase complex maturation
    Title: A family of membrane proteins associated with presenilin expression and gamma-secretase function.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of serum bilirubin levels in Korean population.
EBI GWAS Catalog
Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ44364, DKFZp686G141

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ceramide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ceramide metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular sphingolipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in motor behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in myelination IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within negative regulation of ceramide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sphingolipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sphingomyelin biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of SPOTS complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ORM1-like protein 1
Names
adoplin-1

NCBI Reference Sequences (RefSeq)

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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_001128150.2 → NP_001121622.1  ORM1-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001121622.1

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Consensus CDS
    CCDS2301.1
    UniProtKB/Swiss-Prot
    B2R8W3, D3DPH9, Q9P0S3
    Related
    ENSP00000376161.3, ENST00000392350.7
    Conserved Domains (1) summary
    pfam04061
    Location:11 → 146
    ORMDL; ORMDL family

  2. NM_001371384.1 → NP_001358313.1  ORM1-like protein 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    pfam04061
    Location:11 → 144
    ORMDL; ORMDL family

  3. NM_001371385.1 → NP_001358314.1  ORM1-like protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    pfam04061
    Location:11 → 146
    ORMDL; ORMDL family

  4. NM_001371386.1 → NP_001358315.1  ORM1-like protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    pfam04061
    Location:11 → 146
    ORMDL; ORMDL family

  5. NM_001371387.1 → NP_001358316.1  ORM1-like protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC013468
    UniProtKB/TrEMBL
    A0A1B0GXE7
    Conserved Domains (1) summary
    pfam04061
    Location:11 → 109
    ORMDL; ORMDL family

  6. NM_001371388.1 → NP_001358317.1  ORM1-like protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC013468
    UniProtKB/TrEMBL
    A0A1B0GXE7
    Conserved Domains (1) summary
    pfam04061
    Location:11 → 109
    ORMDL; ORMDL family

  7. NM_016467.5 → NP_057551.1  ORM1-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_057551.1

    Status: VALIDATED

    Source sequence(s)
    AA603217, AC013468, AF395704, AI674061, DB122266
    Consensus CDS
    CCDS2301.1
    UniProtKB/Swiss-Prot
    B2R8W3, D3DPH9, Q9P0S3
    Related
    ENSP00000376160.4, ENST00000392349.9
    Conserved Domains (1) summary
    pfam04061
    Location:11 → 146
    ORMDL; ORMDL family

RNA

  1. NR_163942.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC013468

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    189763859..189784339 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446425.1 → XP_047302381.1  ORM1-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B2R8W3, D3DPH9, Q9P0S3

  2. XM_005246970.4 → XP_005247027.1  ORM1-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005247027.1

    UniProtKB/Swiss-Prot
    B2R8W3, D3DPH9, Q9P0S3
    Conserved Domains (1) summary
    pfam04061
    Location:11 → 146
    ORMDL; ORMDL family

  3. XM_017005347.2 → XP_016860836.1  ORM1-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B2R8W3, D3DPH9, Q9P0S3
    Conserved Domains (1) summary
    pfam04061
    Location:11 → 146
    ORMDL; ORMDL family

  4. XM_047446427.1 → XP_047302383.1  ORM1-like protein 1 isoform X2

    Related
    ENSP00000407234.1, ENST00000442547.5

  5. XM_047446426.1 → XP_047302382.1  ORM1-like protein 1 isoform X2

    Related
    ENSP00000402074.1, ENST00000458355.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    190253126..190273622 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344633.1 → XP_054200608.1  ORM1-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B2R8W3, D3DPH9, Q9P0S3

  2. XM_054344632.1 → XP_054200607.1  ORM1-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B2R8W3, D3DPH9, Q9P0S3

  3. XM_054344635.1 → XP_054200610.1  ORM1-like protein 1 isoform X2

  4. XM_054344634.1 → XP_054200609.1  ORM1-like protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P0S3.1 GenPept UniProtKB/Swiss-Prot:Q9P0S3

Gene LinkOut

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