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Protein

ORM1-like protein 1

Gene

ORMDL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Negative regulator of sphingolipid synthesis.1 Publication

GO - Biological processi

  • cellular sphingolipid homeostasis Source: GO_Central
  • ceramide metabolic process Source: UniProtKB
  • negative regulation of ceramide biosynthetic process Source: MGI

Enzyme and pathway databases

ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
ORM1-like protein 1
Alternative name(s):
Adoplin-1
Gene namesi
Name:ORMDL1
ORF Names:HSPC202
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000128699.13.
HGNCiHGNC:16036. ORMDL1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei27 – 47HelicalSequence analysisAdd BLAST21
Transmembranei101 – 121HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi94101.
OpenTargetsiENSG00000128699.
PharmGKBiPA32819.

Polymorphism and mutation databases

BioMutaiORMDL1.
DMDMi74734798.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002156301 – 153ORM1-like protein 1Add BLAST153

Proteomic databases

EPDiQ9P0S3.
MaxQBiQ9P0S3.
PaxDbiQ9P0S3.
PeptideAtlasiQ9P0S3.
PRIDEiQ9P0S3.
TopDownProteomicsiQ9P0S3.

PTM databases

iPTMnetiQ9P0S3.
PhosphoSitePlusiQ9P0S3.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000128699.
CleanExiHS_ORMDL1.
ExpressionAtlasiQ9P0S3. baseline and differential.
GenevisibleiQ9P0S3. HS.

Organism-specific databases

HPAiHPA065643.

Interactioni

Protein-protein interaction databases

BioGridi125113. 10 interactors.
IntActiQ9P0S3. 7 interactors.
MINTiMINT-3077983.
STRINGi9606.ENSP00000326869.

Structurei

3D structure databases

ProteinModelPortaliQ9P0S3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ORM family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3319. Eukaryota.
COG5081. LUCA.
GeneTreeiENSGT00390000015817.
HOGENOMiHOG000192741.
HOVERGENiHBG080033.
InParanoidiQ9P0S3.
OMAiFGMYVFM.
OrthoDBiEOG091G0S5I.
PhylomeDBiQ9P0S3.
TreeFamiTF323369.

Family and domain databases

InterProiView protein in InterPro
IPR007203. ORMDL.
IPR029884. ORML1.
PANTHERiPTHR12665. PTHR12665. 1 hit.
PTHR12665:SF18. PTHR12665:SF18. 1 hit.
PfamiView protein in Pfam
PF04061. ORMDL. 1 hit.
PIRSFiPIRSF018147. ORMDL. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9P0S3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNVGVAHSEV NPNTRVMNSR GMWLTYALGV GLLHIVLLSI PFFSVPVAWT
60 70 80 90 100
LTNIIHNLGM YVFLHAVKGT PFETPDQGKA RLLTHWEQLD YGVQFTSSRK
110 120 130 140 150
FFTISPIILY FLASFYTKYD PTHFILNTAS LLSVLIPKMP QLHGVRIFGI

NKY
Length:153
Mass (Da):17,371
Last modified:October 1, 2000 - v1
Checksum:iCEFF155BE8C33A46
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF395702, AF395701 Genomic DNA. Translation: AAM43502.1.
AF395704 mRNA. Translation: AAM43503.1.
AB064959 mRNA. Translation: BAC11710.1.
AB064960 mRNA. Translation: BAC11711.1.
AF151036 mRNA. Translation: AAF36122.1.
AK074756 mRNA. Translation: BAC11184.1.
AK075160 mRNA. Translation: BAC11441.1.
AK313533 mRNA. Translation: BAG36310.1.
CR936635 mRNA. Translation: CAI56776.1.
AC013468 Genomic DNA. Translation: AAY14772.1.
CH471058 Genomic DNA. Translation: EAX10887.1.
CH471058 Genomic DNA. Translation: EAX10888.1.
CH471058 Genomic DNA. Translation: EAX10889.1.
BC005200 mRNA. Translation: AAH05200.1.
CCDSiCCDS2301.1.
RefSeqiNP_001121622.1. NM_001128150.1.
NP_057551.1. NM_016467.4.
XP_005247027.1. XM_005246970.2.
XP_016860836.1. XM_017005347.1.
UniGeneiHs.700632.

Genome annotation databases

EnsembliENST00000325795; ENSP00000326869; ENSG00000128699.
ENST00000392349; ENSP00000376160; ENSG00000128699.
ENST00000392350; ENSP00000376161; ENSG00000128699.
GeneIDi94101.
KEGGihsa:94101.
UCSCiuc002urb.5. human.

Similar proteinsi

Entry informationi

Entry nameiORML1_HUMAN
AccessioniPrimary (citable) accession number: Q9P0S3
Secondary accession number(s): B2R8W3, D3DPH9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: October 1, 2000
Last modified: September 27, 2017
This is version 119 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families