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Protein

ORM1-like protein 2

Gene

ORMDL2

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

  • 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 2
Alternative name(s):
Adoplin-2
Gene namesi
Name:ORMDL2
ORF Names:HSPC160, MSTP095
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:16037. ORMDL2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei22 – 4221HelicalSequence analysisAdd
BLAST
Transmembranei43 – 6321HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA32820.

Polymorphism and mutation databases

BioMutaiORMDL2.
DMDMi81174969.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 153153ORM1-like protein 2PRO_0000215636Add
BLAST

Proteomic databases

EPDiQ53FV1.
MaxQBiQ53FV1.
PaxDbiQ53FV1.
PRIDEiQ53FV1.
TopDownProteomicsiQ53FV1.

PTM databases

iPTMnetiQ53FV1.
PhosphoSiteiQ53FV1.

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

BgeeiQ53FV1.
CleanExiHS_ORMDL2.
ExpressionAtlasiQ53FV1. baseline and differential.
GenevisibleiQ53FV1. HS.

Interactioni

Protein-protein interaction databases

BioGridi118864. 9 interactions.
IntActiQ53FV1. 2 interactions.
STRINGi9606.ENSP00000243045.

Structurei

3D structure databases

ProteinModelPortaliQ53FV1.
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.
InParanoidiQ53FV1.
OMAiLVWTLTN.
OrthoDBiEOG7N8ZX8.
PhylomeDBiQ53FV1.
TreeFamiTF323369.

Family and domain databases

InterProiIPR007203. ORMDL.
IPR029886. ORML2.
[Graphical view]
PANTHERiPTHR12665. PTHR12665. 1 hit.
PTHR12665:SF13. PTHR12665:SF13. 1 hit.
PfamiPF04061. ORMDL. 1 hit.
[Graphical view]
PIRSFiPIRSF018147. ORMDL. 1 hit.

Sequencei

Sequence statusi: Complete.

Q53FV1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNVGVAHSEV NPNTRVMNSR GIWLAYIILV GLLHMVLLSI PFFSIPVVWT
60 70 80 90 100
LTNVIHNLAT YVFLHTVKGT PFETPDQGKA RLLTHWEQMD YGLQFTSSRK
110 120 130 140 150
FLSISPIVLY LLASFYTKYD AAHFLINTAS LLSVLLPKLP QFHGVRVFGI

NKY
Length:153
Mass (Da):17,363
Last modified:November 8, 2005 - v2
Checksum:iF4031EF81F8E8B71
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51V → A in AAM43506 (PubMed:12093374).Curated
Sequence conflicti8 – 81S → N in BAD96900 (Ref. 6) Curated
Sequence conflicti144 – 1441G → R in AAM43506 (PubMed:12093374).Curated
Sequence conflicti153 – 1531Y → F in AAQ13618 (Ref. 4) Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF395705 mRNA. Translation: AAM43504.1.
AF395706 mRNA. Translation: AAM43505.1.
AF395707 mRNA. Translation: AAM43506.1.
AB064961 mRNA. Translation: BAC11712.1.
AF161509 mRNA. Translation: AAF29124.1.
AF173375 mRNA. Translation: AAQ13618.1.
AK223180 mRNA. Translation: BAD96900.1.
AK314046 mRNA. Translation: BAG36755.1.
CH471054 Genomic DNA. Translation: EAW96840.1.
BC012543 mRNA. Translation: AAH12543.1.
CCDSiCCDS8893.1.
RefSeqiNP_054901.1. NM_014182.4.
UniGeneiHs.534450.

Genome annotation databases

EnsembliENST00000243045; ENSP00000243045; ENSG00000123353.
ENST00000548974; ENSP00000448788; ENSG00000123353.
GeneIDi29095.
KEGGihsa:29095.
UCSCiuc001shw.2. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF395705 mRNA. Translation: AAM43504.1.
AF395706 mRNA. Translation: AAM43505.1.
AF395707 mRNA. Translation: AAM43506.1.
AB064961 mRNA. Translation: BAC11712.1.
AF161509 mRNA. Translation: AAF29124.1.
AF173375 mRNA. Translation: AAQ13618.1.
AK223180 mRNA. Translation: BAD96900.1.
AK314046 mRNA. Translation: BAG36755.1.
CH471054 Genomic DNA. Translation: EAW96840.1.
BC012543 mRNA. Translation: AAH12543.1.
CCDSiCCDS8893.1.
RefSeqiNP_054901.1. NM_014182.4.
UniGeneiHs.534450.

3D structure databases

ProteinModelPortaliQ53FV1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118864. 9 interactions.
IntActiQ53FV1. 2 interactions.
STRINGi9606.ENSP00000243045.

PTM databases

iPTMnetiQ53FV1.
PhosphoSiteiQ53FV1.

Polymorphism and mutation databases

BioMutaiORMDL2.
DMDMi81174969.

Proteomic databases

EPDiQ53FV1.
MaxQBiQ53FV1.
PaxDbiQ53FV1.
PRIDEiQ53FV1.
TopDownProteomicsiQ53FV1.

Protocols and materials databases

DNASUi29095.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243045; ENSP00000243045; ENSG00000123353.
ENST00000548974; ENSP00000448788; ENSG00000123353.
GeneIDi29095.
KEGGihsa:29095.
UCSCiuc001shw.2. human.

Organism-specific databases

CTDi29095.
GeneCardsiORMDL2.
HGNCiHGNC:16037. ORMDL2.
MIMi610074. gene.
neXtProtiNX_Q53FV1.
PharmGKBiPA32820.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3319. Eukaryota.
COG5081. LUCA.
GeneTreeiENSGT00390000015817.
HOGENOMiHOG000192741.
HOVERGENiHBG080033.
InParanoidiQ53FV1.
OMAiLVWTLTN.
OrthoDBiEOG7N8ZX8.
PhylomeDBiQ53FV1.
TreeFamiTF323369.

Miscellaneous databases

GenomeRNAii29095.
PROiQ53FV1.
SOURCEiSearch...

Gene expression databases

BgeeiQ53FV1.
CleanExiHS_ORMDL2.
ExpressionAtlasiQ53FV1. baseline and differential.
GenevisibleiQ53FV1. HS.

Family and domain databases

InterProiIPR007203. ORMDL.
IPR029886. ORML2.
[Graphical view]
PANTHERiPTHR12665. PTHR12665. 1 hit.
PTHR12665:SF13. PTHR12665:SF13. 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], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  2. "A family of membrane proteins associated with presenilin expression and gamma-secretase function."
    Araki W., Takahashi-Sasaki N., Chui D.H., Saito S., Takeda K., Shirotani K., Takahashi K., Murayama K.S., Kametani F., Shiraishi H., Komano H., Tabira T.
    FASEB J. 22:819-827(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Fetal brain.
  3. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
    Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
    , Gu J., Chen S.-J., Chen Z.
    Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Umbilical cord blood.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Aorta.
  5. "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].
  6. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pancreas.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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].
    Tissue: Prostate.
  9. Cited for: FUNCTION.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiORML2_HUMAN
AccessioniPrimary (citable) accession number: Q53FV1
Secondary accession number(s): B2RA58
, Q7Z4E5, Q8NFX0, Q9P004
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: November 8, 2005
Last modified: June 8, 2016
This is version 93 of the entry and version 2 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 12
    Human chromosome 12: 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.