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Protein

ORM1-like protein 1

Gene

ORMDL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Organism-specific databases

EuPathDBiHostDB:ENSG00000128699.13
HGNCiHGNC:16036 ORMDL1
MIMi610073 gene
neXtProtiNX_Q9P0S3

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, 11 interactors
IntActiQ9P0S3, 6 interactors
MINTiQ9P0S3
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
OMAiYDPAHFI
OrthoDBiEOG091G0S5I
PhylomeDBiQ9P0S3
TreeFamiTF323369

Family and domain databases

InterProiView protein in InterPro
IPR007203 ORMDL
IPR029884 ORML1
PANTHERiPTHR12665 PTHR12665, 1 hit
PTHR12665:SF12 PTHR12665:SF12, 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: May 23, 2018
This is version 124 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

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