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Protein

ORM1-like protein 3

Gene

ORMDL3

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

Functioni

Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2) signaling.1 Publication

GO - Biological processi

  • cellular sphingolipid homeostasis Source: InterPro
  • ceramide metabolic process Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
ORM1-like protein 3
Gene namesi
Name:ORMDL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:16038. ORMDL3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2121CytoplasmicSequence analysisAdd
BLAST
Transmembranei22 – 4221HelicalSequence analysisAdd
BLAST
Topological domaini43 – 9452LumenalSequence analysisAdd
BLAST
Transmembranei95 – 11723HelicalSequence analysisAdd
BLAST
Topological domaini118 – 15336CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Asthma (ASTHMA)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionThe most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi.
See also OMIM:600807

Keywords - Diseasei

Asthma

Organism-specific databases

MIMi600807. phenotype.
PharmGKBiPA32821.

Polymorphism and mutation databases

BioMutaiORMDL3.
DMDMi74728486.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 153153ORM1-like protein 3PRO_0000215639Add
BLAST

Proteomic databases

EPDiQ8N138.
MaxQBiQ8N138.
PaxDbiQ8N138.
PRIDEiQ8N138.
TopDownProteomicsiQ8N138-1. [Q8N138-1]

PTM databases

iPTMnetiQ8N138.
PhosphoSiteiQ8N138.

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.1 Publication

Gene expression databases

BgeeiQ8N138.
CleanExiHS_ORMDL3.
ExpressionAtlasiQ8N138. baseline and differential.
GenevisibleiQ8N138. HS.

Interactioni

Subunit structurei

Interacts with SPTLC1.1 Publication

Protein-protein interaction databases

BioGridi125114. 10 interactions.
DIPiDIP-48687N.
IntActiQ8N138. 2 interactions.
MINTiMINT-1390099.
STRINGi9606.ENSP00000304858.

Structurei

3D structure databases

ProteinModelPortaliQ8N138.
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.
InParanoidiQ8N138.
OMAiHFIINTI.
OrthoDBiEOG7N8ZX8.
PhylomeDBiQ8N138.
TreeFamiTF323369.

Family and domain databases

InterProiIPR007203. ORMDL.
IPR029883. ORML3.
[Graphical view]
PANTHERiPTHR12665. PTHR12665. 1 hit.
PTHR12665:SF11. PTHR12665:SF11. 1 hit.
PfamiPF04061. ORMDL. 1 hit.
[Graphical view]
PIRSFiPIRSF018147. ORMDL. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N138-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNVGTAHSEV NPNTRVMNSR GIWLSYVLAI GLLHIVLLSI PFVSVPVVWT
60 70 80 90 100
LTNLIHNMGM YIFLHTVKGT PFETPDQGKA RLLTHWEQMD YGVQFTASRK
110 120 130 140 150
FLTITPIVLY FLTSFYTKYD QIHFVLNTVS LMSVLIPKLP QLHGVRIFGI

NKY
Length:153
Mass (Da):17,495
Last modified:October 1, 2002 - v1
Checksum:i3EF483CA5C03EC2E
GO
Isoform 2 (identifier: Q8N138-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     43-58: Missing.

Note: No experimental confirmation available.
Show »
Length:137
Mass (Da):15,689
Checksum:i63B59033E286DF75
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei43 – 5816Missing in isoform 2. 1 PublicationVSP_016052Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF395708 mRNA. Translation: AAM43507.1.
AF373101 mRNA. Translation: AAN76521.1.
AF373102 mRNA. Translation: AAN76522.1.
AK074811 mRNA. Translation: BAC11223.1.
AY357943 mRNA. Translation: AAQ57273.1.
AK075212 mRNA. Translation: BAC11476.1.
AK093063 mRNA. Translation: BAG52645.1.
CH471152 Genomic DNA. Translation: EAW60617.1.
BC017087 mRNA. Translation: AAH17087.1.
BC071833 mRNA. Translation: AAH71833.1.
CCDSiCCDS11355.1. [Q8N138-1]
RefSeqiNP_001307730.1. NM_001320801.1.
NP_001307731.1. NM_001320802.1.
NP_001307732.1. NM_001320803.1.
NP_644809.1. NM_139280.3. [Q8N138-1]
UniGeneiHs.514151.

Genome annotation databases

EnsembliENST00000304046; ENSP00000304858; ENSG00000172057. [Q8N138-1]
ENST00000394169; ENSP00000377724; ENSG00000172057. [Q8N138-1]
ENST00000579695; ENSP00000464693; ENSG00000172057. [Q8N138-1]
ENST00000584220; ENSP00000464455; ENSG00000172057. [Q8N138-4]
GeneIDi94103.
KEGGihsa:94103.
UCSCiuc002htj.3. human. [Q8N138-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF395708 mRNA. Translation: AAM43507.1.
AF373101 mRNA. Translation: AAN76521.1.
AF373102 mRNA. Translation: AAN76522.1.
AK074811 mRNA. Translation: BAC11223.1.
AY357943 mRNA. Translation: AAQ57273.1.
AK075212 mRNA. Translation: BAC11476.1.
AK093063 mRNA. Translation: BAG52645.1.
CH471152 Genomic DNA. Translation: EAW60617.1.
BC017087 mRNA. Translation: AAH17087.1.
BC071833 mRNA. Translation: AAH71833.1.
CCDSiCCDS11355.1. [Q8N138-1]
RefSeqiNP_001307730.1. NM_001320801.1.
NP_001307731.1. NM_001320802.1.
NP_001307732.1. NM_001320803.1.
NP_644809.1. NM_139280.3. [Q8N138-1]
UniGeneiHs.514151.

3D structure databases

ProteinModelPortaliQ8N138.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125114. 10 interactions.
DIPiDIP-48687N.
IntActiQ8N138. 2 interactions.
MINTiMINT-1390099.
STRINGi9606.ENSP00000304858.

PTM databases

iPTMnetiQ8N138.
PhosphoSiteiQ8N138.

Polymorphism and mutation databases

BioMutaiORMDL3.
DMDMi74728486.

Proteomic databases

EPDiQ8N138.
MaxQBiQ8N138.
PaxDbiQ8N138.
PRIDEiQ8N138.
TopDownProteomicsiQ8N138-1. [Q8N138-1]

Protocols and materials databases

DNASUi94103.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304046; ENSP00000304858; ENSG00000172057. [Q8N138-1]
ENST00000394169; ENSP00000377724; ENSG00000172057. [Q8N138-1]
ENST00000579695; ENSP00000464693; ENSG00000172057. [Q8N138-1]
ENST00000584220; ENSP00000464455; ENSG00000172057. [Q8N138-4]
GeneIDi94103.
KEGGihsa:94103.
UCSCiuc002htj.3. human. [Q8N138-1]

Organism-specific databases

CTDi94103.
GeneCardsiORMDL3.
HGNCiHGNC:16038. ORMDL3.
MIMi600807. phenotype.
610075. gene.
neXtProtiNX_Q8N138.
PharmGKBiPA32821.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3319. Eukaryota.
COG5081. LUCA.
GeneTreeiENSGT00390000015817.
HOGENOMiHOG000192741.
HOVERGENiHBG080033.
InParanoidiQ8N138.
OMAiHFIINTI.
OrthoDBiEOG7N8ZX8.
PhylomeDBiQ8N138.
TreeFamiTF323369.

Miscellaneous databases

ChiTaRSiORMDL3. human.
GenomeRNAii94103.
NextBioi78379.
PROiQ8N138.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N138.
CleanExiHS_ORMDL3.
ExpressionAtlasiQ8N138. baseline and differential.
GenevisibleiQ8N138. HS.

Family and domain databases

InterProiIPR007203. ORMDL.
IPR029883. ORML3.
[Graphical view]
PANTHERiPTHR12665. PTHR12665. 1 hit.
PTHR12665:SF11. PTHR12665:SF11. 1 hit.
PfamiPF04061. ORMDL. 1 hit.
[Graphical view]
PIRSFiPIRSF018147. ORMDL. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins."
    Hjelmqvist L., Tuson M., Marfany G., Herrero E., Balcells S., Gonzalez-Duarte R.
    Genome Biol. 3:RESEARCH0027.1-RESEARCH0027.13(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  2. "An evolutionarily conserved gene from the HER-2/Neu amplicon defines a novel gene family."
    Luoh S.-W., Venkatesan N., Slamon D.J.
    Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. Li H., Yu R., Shen C., Zhou G., Ke R., Lin L., Yang S.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta and Testis.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain and Colon.
  7. Cited for: ASSOCIATION OF ORMDL3 EXPRESSION LEVELS WITH SUSCEPTIBILITY TO ASTHMA.
  8. "A polymorphism controlling ORMDL3 expression is associated with asthma that is poorly controlled by current medications."
    Tavendale R., Macgregor D.F., Mukhopadhyay S., Palmer C.N.
    J. Allergy Clin. Immunol. 121:860-863(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ASTHMA.
  9. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ASTHMA.
  10. "Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma."
    Wu H., Romieu I., Sienra-Monge J.J., Li H., del Rio-Navarro B.E., London S.J.
    Allergy 64:629-635(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ASTHMA.
  11. "The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress."
    Cantero-Recasens G., Fandos C., Rubio-Moscardo F., Valverde M.A., Vicente R.
    Hum. Mol. Genet. 19:111-121(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY.
  12. Cited for: FUNCTION, INTERACTION WITH SPTLC1.

Entry informationi

Entry nameiORML3_HUMAN
AccessioniPrimary (citable) accession number: Q8N138
Secondary accession number(s): B3KS83, Q6UY83
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: October 1, 2002
Last modified: May 11, 2016
This is version 109 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

Miscellaneous

SNPs on 17q21 locus that are associated with childhood asthma also show a consistent and strong association with transcript levels of ORMDL3, indicating that genetic variants regulating ORMDL3 expression are determinants of susceptibility to childhood asthma.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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.