ORML1_HUMAN
ID ORML1_HUMAN Reviewed; 153 AA.
AC Q9P0S3; B2R8W3; D3DPH9;
DT 08-NOV-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=ORM1-like protein 1;
DE AltName: Full=Adoplin-1;
GN Name=ORMDL1; ORFNames=HSPC202;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Retina;
RX PubMed=12093374; DOI=10.1186/gb-2002-3-6-research0027;
RA Hjelmqvist L., Tuson M., Marfany G., Herrero E., Balcells S.,
RA Gonzalez-Duarte R.;
RT "ORMDL proteins are a conserved new family of endoplasmic reticulum
RT membrane proteins.";
RL Genome Biol. 3:RESEARCH0027.1-RESEARCH0027.13(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Fetal brain;
RX PubMed=17928364; DOI=10.1096/fj.07-9072com;
RA Araki W., Takahashi-Sasaki N., Chui D.H., Saito S., Takeda K.,
RA Shirotani K., Takahashi K., Murayama K.S., Kametani F., Shiraishi H.,
RA Komano H., Tabira T.;
RT "A family of membrane proteins associated with presenilin expression and
RT gamma-secretase function.";
RL FASEB J. 22:819-827(2008).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cervix;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP FUNCTION.
RX PubMed=20182505; DOI=10.1038/nature08787;
RA Breslow D.K., Collins S.R., Bodenmiller B., Aebersold R., Simons K.,
RA Shevchenko A., Ejsing C.S., Weissman J.S.;
RT "Orm family proteins mediate sphingolipid homeostasis.";
RL Nature 463:1048-1053(2010).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Negative regulator of sphingolipid synthesis.
CC {ECO:0000269|PubMed:20182505}.
CC -!- INTERACTION:
CC Q9P0S3; Q13520: AQP6; NbExp=3; IntAct=EBI-1054848, EBI-13059134;
CC Q9P0S3; Q3SXY8: ARL13B; NbExp=3; IntAct=EBI-1054848, EBI-11343438;
CC Q9P0S3; P07307-3: ASGR2; NbExp=3; IntAct=EBI-1054848, EBI-12808270;
CC Q9P0S3; O75208: COQ9; NbExp=3; IntAct=EBI-1054848, EBI-724524;
CC Q9P0S3; Q7Z7G2: CPLX4; NbExp=3; IntAct=EBI-1054848, EBI-18013275;
CC Q9P0S3; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-1054848, EBI-6942903;
CC Q9P0S3; O00559: EBAG9; NbExp=3; IntAct=EBI-1054848, EBI-8787095;
CC Q9P0S3; Q15125: EBP; NbExp=3; IntAct=EBI-1054848, EBI-3915253;
CC Q9P0S3; Q08426: EHHADH; NbExp=3; IntAct=EBI-1054848, EBI-2339219;
CC Q9P0S3; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-1054848, EBI-781551;
CC Q9P0S3; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-1054848, EBI-13345167;
CC Q9P0S3; Q8NBQ5: HSD17B11; NbExp=3; IntAct=EBI-1054848, EBI-1052304;
CC Q9P0S3; Q9NYG8-2: KCNK4; NbExp=3; IntAct=EBI-1054848, EBI-15965944;
CC Q9P0S3; O95214: LEPROTL1; NbExp=3; IntAct=EBI-1054848, EBI-750776;
CC Q9P0S3; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-1054848, EBI-739832;
CC Q9P0S3; Q5SR56: MFSD14B; NbExp=3; IntAct=EBI-1054848, EBI-373355;
CC Q9P0S3; A6NKB5-5: PCNX2; NbExp=3; IntAct=EBI-1054848, EBI-17616589;
CC Q9P0S3; O15173: PGRMC2; NbExp=3; IntAct=EBI-1054848, EBI-1050125;
CC Q9P0S3; Q9H6H4: REEP4; NbExp=3; IntAct=EBI-1054848, EBI-7545592;
CC Q9P0S3; Q99942: RNF5; NbExp=3; IntAct=EBI-1054848, EBI-348482;
CC Q9P0S3; Q9NR31: SAR1A; NbExp=3; IntAct=EBI-1054848, EBI-3920694;
CC Q9P0S3; Q9NY72: SCN3B; NbExp=3; IntAct=EBI-1054848, EBI-17247926;
CC Q9P0S3; Q14973: SLC10A1; NbExp=3; IntAct=EBI-1054848, EBI-3923031;
CC Q9P0S3; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-1054848, EBI-18159983;
CC Q9P0S3; P54219-3: SLC18A1; NbExp=3; IntAct=EBI-1054848, EBI-17595455;
CC Q9P0S3; Q8IWU4: SLC30A8; NbExp=3; IntAct=EBI-1054848, EBI-10262251;
CC Q9P0S3; Q9NQQ7-3: SLC35C2; NbExp=3; IntAct=EBI-1054848, EBI-17295964;
CC Q9P0S3; P27105: STOM; NbExp=3; IntAct=EBI-1054848, EBI-1211440;
CC Q9P0S3; Q96MV1: TLCD4; NbExp=3; IntAct=EBI-1054848, EBI-12947623;
CC Q9P0S3; Q96AN5: TMEM143; NbExp=3; IntAct=EBI-1054848, EBI-13342951;
CC Q9P0S3; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-1054848, EBI-8638294;
CC Q9P0S3; Q53FP2: TMEM35A; NbExp=3; IntAct=EBI-1054848, EBI-11722971;
CC Q9P0S3; Q4KMG9: TMEM52B; NbExp=3; IntAct=EBI-1054848, EBI-18178701;
CC Q9P0S3; Q3ZAQ7: VMA21; NbExp=3; IntAct=EBI-1054848, EBI-1055364;
CC Q9P0S3; Q96MV8: ZDHHC15; NbExp=3; IntAct=EBI-1054848, EBI-12837904;
CC Q9P0S3; Q5T4F4: ZFYVE27; NbExp=3; IntAct=EBI-1054848, EBI-3892947;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:12093374}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:12093374}.
CC -!- TISSUE SPECIFICITY: Widely expressed. Expressed in adult and fetal
CC heart, brain, lung, liver, skeletal muscle and kidney. Expressed in
CC adult pancreas and placenta and in fetal spleen abd thymus. Expressed
CC at intermediate level in pancreas, placenta and brain but low in
CC skeletal muscle and lung. {ECO:0000269|PubMed:12093374}.
CC -!- SIMILARITY: Belongs to the ORM family. {ECO:0000305}.
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DR EMBL; AF395702; AAM43502.1; -; Genomic_DNA.
DR EMBL; AF395701; AAM43502.1; JOINED; Genomic_DNA.
DR EMBL; AF395704; AAM43503.1; -; mRNA.
DR EMBL; AB064959; BAC11710.1; -; mRNA.
DR EMBL; AB064960; BAC11711.1; -; mRNA.
DR EMBL; AF151036; AAF36122.1; -; mRNA.
DR EMBL; AK074756; BAC11184.1; -; mRNA.
DR EMBL; AK075160; BAC11441.1; -; mRNA.
DR EMBL; AK313533; BAG36310.1; -; mRNA.
DR EMBL; CR936635; CAI56776.1; -; mRNA.
DR EMBL; AC013468; AAY14772.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10887.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10888.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX10889.1; -; Genomic_DNA.
DR EMBL; BC005200; AAH05200.1; -; mRNA.
DR CCDS; CCDS2301.1; -.
DR RefSeq; NP_001121622.1; NM_001128150.1.
DR RefSeq; NP_057551.1; NM_016467.4.
DR RefSeq; XP_005247027.1; XM_005246970.2.
DR RefSeq; XP_016860836.1; XM_017005347.1.
DR AlphaFoldDB; Q9P0S3; -.
DR SMR; Q9P0S3; -.
DR BioGRID; 125113; 63.
DR IntAct; Q9P0S3; 44.
DR MINT; Q9P0S3; -.
DR STRING; 9606.ENSP00000326869; -.
DR iPTMnet; Q9P0S3; -.
DR MetOSite; Q9P0S3; -.
DR PhosphoSitePlus; Q9P0S3; -.
DR BioMuta; ORMDL1; -.
DR DMDM; 74734798; -.
DR EPD; Q9P0S3; -.
DR jPOST; Q9P0S3; -.
DR MassIVE; Q9P0S3; -.
DR MaxQB; Q9P0S3; -.
DR PaxDb; Q9P0S3; -.
DR PeptideAtlas; Q9P0S3; -.
DR PRIDE; Q9P0S3; -.
DR ProteomicsDB; 83593; -.
DR TopDownProteomics; Q9P0S3; -.
DR Antibodypedia; 56292; 69 antibodies from 21 providers.
DR DNASU; 94101; -.
DR Ensembl; ENST00000325795.7; ENSP00000326869.3; ENSG00000128699.14.
DR Ensembl; ENST00000392349.9; ENSP00000376160.4; ENSG00000128699.14.
DR Ensembl; ENST00000392350.7; ENSP00000376161.3; ENSG00000128699.14.
DR GeneID; 94101; -.
DR KEGG; hsa:94101; -.
DR MANE-Select; ENST00000392349.9; ENSP00000376160.4; NM_016467.5; NP_057551.1.
DR UCSC; uc002urb.5; human.
DR CTD; 94101; -.
DR DisGeNET; 94101; -.
DR GeneCards; ORMDL1; -.
DR HGNC; HGNC:16036; ORMDL1.
DR HPA; ENSG00000128699; Low tissue specificity.
DR MIM; 610073; gene.
DR neXtProt; NX_Q9P0S3; -.
DR OpenTargets; ENSG00000128699; -.
DR PharmGKB; PA32819; -.
DR VEuPathDB; HostDB:ENSG00000128699; -.
DR eggNOG; KOG3319; Eukaryota.
DR GeneTree; ENSGT00950000183178; -.
DR InParanoid; Q9P0S3; -.
DR OMA; DPTHFII; -.
DR OrthoDB; 1405600at2759; -.
DR PhylomeDB; Q9P0S3; -.
DR TreeFam; TF323369; -.
DR PathwayCommons; Q9P0S3; -.
DR Reactome; R-HSA-1660661; Sphingolipid de novo biosynthesis.
DR SignaLink; Q9P0S3; -.
DR BioGRID-ORCS; 94101; 14 hits in 1082 CRISPR screens.
DR ChiTaRS; ORMDL1; human.
DR GenomeRNAi; 94101; -.
DR Pharos; Q9P0S3; Tbio.
DR PRO; PR:Q9P0S3; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9P0S3; protein.
DR Bgee; ENSG00000128699; Expressed in body of pancreas and 178 other tissues.
DR ExpressionAtlas; Q9P0S3; baseline and differential.
DR Genevisible; Q9P0S3; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:HPA.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0035339; C:SPOTS complex; IBA:GO_Central.
DR GO; GO:0090156; P:cellular sphingolipid homeostasis; IBA:GO_Central.
DR GO; GO:0006672; P:ceramide metabolic process; IMP:UniProtKB.
DR GO; GO:0061744; P:motor behavior; IEA:Ensembl.
DR GO; GO:0042552; P:myelination; IEA:Ensembl.
DR GO; GO:1900060; P:negative regulation of ceramide biosynthetic process; IMP:MGI.
DR GO; GO:0006686; P:sphingomyelin biosynthetic process; IEA:Ensembl.
DR InterPro; IPR007203; ORMDL.
DR InterPro; IPR029884; ORML1.
DR PANTHER; PTHR12665; PTHR12665; 1.
DR PANTHER; PTHR12665:SF12; PTHR12665:SF12; 1.
DR Pfam; PF04061; ORMDL; 1.
DR PIRSF; PIRSF018147; ORMDL; 1.
PE 1: Evidence at protein level;
KW Endoplasmic reticulum; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..153
FT /note="ORM1-like protein 1"
FT /id="PRO_0000215630"
FT TRANSMEM 27..47
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 101..121
FT /note="Helical"
FT /evidence="ECO:0000255"
SQ SEQUENCE 153 AA; 17371 MW; CEFF155BE8C33A46 CRC64;
MNVGVAHSEV NPNTRVMNSR GMWLTYALGV GLLHIVLLSI PFFSVPVAWT LTNIIHNLGM
YVFLHAVKGT PFETPDQGKA RLLTHWEQLD YGVQFTSSRK FFTISPIILY FLASFYTKYD
PTHFILNTAS LLSVLIPKMP QLHGVRIFGI NKY
