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

Gene ID: 94101, updated on 7-Jun-2020

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
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
Expression
Ubiquitous expression in spleen (RPKM 13.3), lymph node (RPKM 13.0) and 25 other tissues See more
Orthologs

Genomic context

See ORMDL1 in Genome Data Viewer
Location:
2q32.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (189763859..189784339, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190634993..190649097, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373793 Neighboring gene ankyrin and armadillo repeat containing Neighboring gene OSGEPL1 antisense RNA 1 Neighboring gene O-sialoglycoprotein endopeptidase like 1 Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene Neighboring gene PMS1 homolog 1, mismatch repair system component Neighboring gene uncharacterized LOC105373796 Neighboring gene chromosome 2 open reading frame 88

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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44364, DKFZp686G141

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
ORM1-like protein 1
Names
adoplin-1

NCBI Reference Sequences (RefSeq)

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
    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 1

    Status: VALIDATED

    Source sequence(s)
    AC013468
  3. NM_001371385.1NP_001358314.1  ORM1-like protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC013468
  4. NM_001371386.1NP_001358315.1  ORM1-like protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC013468
  5. NM_001371387.1NP_001358316.1  ORM1-like protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC013468
    Related
    ENSP00000402074.1, ENST00000458355.1
  6. NM_001371388.1NP_001358317.1  ORM1-like protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC013468
  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
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005246970.3XP_005247027.1  ORM1-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005247027.1

    UniProtKB/Swiss-Prot
    Q9P0S3
    Related
    ENSP00000326869.3, ENST00000325795.7
    Conserved Domains (1) summary
    pfam04061
    Location:11146
    ORMDL; ORMDL family
  2. XM_017005347.1XP_016860836.1  ORM1-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9P0S3
    Conserved Domains (1) summary
    pfam04061
    Location:11146
    ORMDL; ORMDL family
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