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

Gene ID: 94101, updated on 5-Jan-2023

Summary

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

See ORMDL1 in Genome Data Viewer
Location:
2q32.2
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (189763859..189784339, complement)
110 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 ankyrin and armadillo repeat containing Neighboring gene O-sialoglycoprotein endopeptidase like 1 Neighboring gene OSGEPL1 antisense RNA 1 Neighboring gene PMS1 homolog 1, mismatch repair system component Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene Neighboring gene uncharacterized LOC105373796

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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

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_001128150.2NP_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
    D3DPH9, Q9P0S3
    Related
    ENSP00000376161.3, ENST00000392350.7
    Conserved Domains (1) summary
    pfam04061
    Location:11146
    ORMDL; ORMDL family
  2. NM_001371384.1NP_001358313.1  ORM1-like protein 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    pfam04061
    Location:11144
    ORMDL; ORMDL family
  3. NM_001371385.1NP_001358314.1  ORM1-like protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    pfam04061
    Location:11146
    ORMDL; ORMDL family
  4. NM_001371386.1NP_001358315.1  ORM1-like protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    pfam04061
    Location:11146
    ORMDL; ORMDL family
  5. NM_001371387.1NP_001358316.1  ORM1-like protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    pfam04061
    Location:11109
    ORMDL; ORMDL family
  6. NM_001371388.1NP_001358317.1  ORM1-like protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Conserved Domains (1) summary
    pfam04061
    Location:11109
    ORMDL; ORMDL family
  7. NM_016467.5NP_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
    D3DPH9, Q9P0S3
    Related
    ENSP00000376160.4, ENST00000392349.9
    Conserved Domains (1) summary
    pfam04061
    Location:11146
    ORMDL; ORMDL family

RNA

  1. NR_163942.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC013468

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047446425.1XP_047302381.1  ORM1-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    D3DPH9
  2. XM_005246970.4XP_005247027.1  ORM1-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005247027.1

    UniProtKB/Swiss-Prot
    D3DPH9, Q9P0S3
    Conserved Domains (1) summary
    pfam04061
    Location:11146
    ORMDL; ORMDL family
  3. XM_017005347.2XP_016860836.1  ORM1-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    D3DPH9, Q9P0S3
    Conserved Domains (1) summary
    pfam04061
    Location:11146
    ORMDL; ORMDL family
  4. XM_047446427.1XP_047302383.1  ORM1-like protein 1 isoform X2

    Related
    ENSP00000407234.1, ENST00000442547.5
  5. XM_047446426.1XP_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)