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Protein

ORM1-like protein 1

Gene

ORMDL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 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
Complete GO annotation...

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

HGNCiHGNC:16036. ORMDL1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei27 – 4721HelicalSequence analysisAdd
BLAST
Transmembranei101 – 12121HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • SPOTS complex Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA32819.

Polymorphism and mutation databases

BioMutaiORMDL1.
DMDMi74734798.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 153153ORM1-like protein 1PRO_0000215630Add
BLAST

Proteomic databases

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

PTM databases

iPTMnetiQ9P0S3.
PhosphoSiteiQ9P0S3.

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.

Interactioni

Protein-protein interaction databases

BioGridi125113. 9 interactions.
IntActiQ9P0S3. 3 interactions.
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

InterProiIPR007203. ORMDL.
IPR029884. ORML1.
[Graphical view]
PANTHERiPTHR12665. PTHR12665. 1 hit.
PTHR12665:SF12. PTHR12665:SF12. 1 hit.
PfamiPF04061. ORMDL. 1 hit.
[Graphical view]
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.
UniGeneiHs.700632.

Genome annotation databases

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

Cross-referencesi

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.
UniGeneiHs.700632.

3D structure databases

ProteinModelPortaliQ9P0S3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125113. 9 interactions.
IntActiQ9P0S3. 3 interactions.
MINTiMINT-3077983.
STRINGi9606.ENSP00000326869.

PTM databases

iPTMnetiQ9P0S3.
PhosphoSiteiQ9P0S3.

Polymorphism and mutation databases

BioMutaiORMDL1.
DMDMi74734798.

Proteomic databases

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

Protocols and materials databases

DNASUi94101.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi94101.
GeneCardsiORMDL1.
HGNCiHGNC:16036. ORMDL1.
MIMi610073. gene.
neXtProtiNX_Q9P0S3.
PharmGKBiPA32819.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiORMDL1. human.
GenomeRNAii94101.
PROiQ9P0S3.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

InterProiIPR007203. ORMDL.
IPR029884. ORML1.
[Graphical view]
PANTHERiPTHR12665. PTHR12665. 1 hit.
PTHR12665:SF12. PTHR12665:SF12. 1 hit.
PfamiPF04061. ORMDL. 1 hit.
[Graphical view]
PIRSFiPIRSF018147. ORMDL. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiORML1_HUMAN
AccessioniPrimary (citable) accession number: Q9P0S3
Secondary accession number(s): B2R8W3, D3DPH9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: October 1, 2000
Last modified: September 7, 2016
This is version 113 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.