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UniProtKB/Swiss-Prot entry Q86UE6


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name LRRT1_HUMAN
Primary accession number Q86UE6
Secondary accession number Q96DN1
Integrated into Swiss-Prot on June 21, 2005
Sequence was last modified on March 6, 2007 (Sequence version 2)
Annotations were last modified on    June 10, 2008 (Entry version 51)
Name and origin of the protein
Protein name Leucine-rich repeat transmembrane neuronal protein 1 [Precursor]
Synonyms None
Gene name
Name: LRRTM1
ORFNames: UNQ675/PRO1309
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
DOI=10.1016/S0888-7543(03)00030-2; PubMed=12676565 [NCBI, ExPASy, EBI, Israel, Japan]
Lauren J., Airaksinen M.S., Saarma M., Timmusk T.T.;
"A novel gene family encoding leucine-rich repeat transmembrane proteins differentially expressed in the nervous system.";
Genomics 81:411-421(2003).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-330.
DOI=10.1101/gr.1293003; PubMed=12975309 [NCBI, ExPASy, EBI, Israel, Japan]
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-330.
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
TISSUE SPECIFICITY.
DOI=10.1038/sj.mp.4002053; PubMed=17667961 [NCBI, ExPASy, EBI, Israel, Japan]
Francks C., Maegawa S., Lauren J., Abrahams B.S., Velayos-Baeza A., Medland S.E., Colella S., Groszer M., McAuley E.Z., Caffrey T.M., Timmusk T., Pruunsild P., Koppel I., Lind P.A., Matsumoto-Itaba N., Nicod J., Xiong L., Joober R., Enard W., Krinsky B., Nanba E., Richardson A.J., Riley B.P., Martin N.G., Strittmatter S.M., Moeller H.J., Rujescu D., St Clair D., Muglia P., Roos J.L., Fisher S.E., Wade-Martins R., Rouleau G.A., Stein J.F., Karayiorgou M., Geschwind D.H., Ragoussis J., Kendler K.S., Airaksinen M.S., Oshimura M., DeLisi L.E., Monaco A.P.;
"LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia.";
Mol. Psychiatry 12:1129-1139(2007).
Comments
  • FUNCTION: May play a role during the development of specific forebrain structures by influencing neuronal differentiation and connectivity, with a possible role in intracellular trafficking within axons.
  • SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein (By similarity).
  • TISSUE SPECIFICITY: Predominantly expression in forebrain regions including thalamus and cerebral cortex.
  • MISCELLANEOUS: Is an imprinted gene that shows parent-of-origin association with human handedness and schizophrenia. Is a candidate gene for involvement in several common neurodevelopmental disorders and may have played a role in human cognitive and behavioral evolution.
  • SIMILARITY: Belongs to the LRRTM family.
  • SIMILARITY: Contains 10 LRR (leucine-rich) repeats.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AY182024; AAO67545.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK056644; BAB71240.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY358310; AAQ88677.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC045113; AAH45113.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_849161.2; -.
UniGene Hs.591580
3D structure databases
HSSP Q9BZR6; 1OZN. [HSSP ENTRY / PDB]
ModBase Q86UE6.
Organism-specific databases
H-InvDB HIX0002207; -.
HGNC HGNC:19408; LRRTM1.
GeneLynx LRRTM1; Homo sapiens.
GenAtlas LRRTM1.
MIM 610867; gene. [NCBI / EBI]
PharmGKB PA134887293; -.
GeneCards Q86UE6.
Gene expression databases
ArrayExpress Q86UE6; -.
CleanEx HS_LRRTM1; -.
GermOnline ENSG00000162951; Homo sapiens.
Ontologies
GO
GO:0030424; Cellular component: axon (inferred from direct assay from UniProtKB).
GO:0005783; Cellular component: endoplasmic reticulum (inferred from direct assay from UniProtKB).
GO:0030426; Cellular component: growth cone (inferred from direct assay from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR001611; LRR.
IPR000372; LRR_cys_N.
IPR003591; LRR_sub-typ.
Graphical view of domain structure.
Pfam PF00560; LRR_1; 8.
Pfam graphical view of domain structure.
PRINTS PR00019; LEURICHRPT.
SMART SM00369; LRR_TYP; 3.
SM00013; LRRNT; 1.
SMART graphical view of domain structure.
BLOCKS Q86UE6.
Genome annotation databases
Ensembl ENSG00000162951; Homo sapiens. [Contig view]
GeneID 347730; -.
KEGG hsa:347730; -.
NMPDR fig|9606.3.peg.18126; -.
Phylogenomic databases
HOVERGEN Q86UE6; -.
Other
SOURCE LRRTM1; Homo sapiens.
ProtoNet Q86UE6.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Endoplasmic reticulum; Glycoprotein; Leucine-rich repeat; Membrane; Polymorphism; Repeat; Signal; Transmembrane.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    34  34     Potential. 
CHAIN   35   522  488     Leucine-rich repeat transmembrane neuronal protein 1. PRO_0000018350
TOPO_DOM   35   427  393     Lumenal (Potential). 
TRANSMEM   428   448  21     Potential. 
TOPO_DOM   449   522  74     Cytoplasmic (Potential). 
REPEAT   64    87  24     LRR 1. 
REPEAT   89   111  23     LRR 2. 
REPEAT   112   135  24     LRR 3. 
REPEAT   137   159  23     LRR 4. 
REPEAT   161   183  23     LRR 5. 
REPEAT   184   207  24     LRR 6. 
REPEAT   209   231  23     LRR 7. 
REPEAT   233   254  22     LRR 8. 
REPEAT   255   278  24     LRR 9. 
REPEAT   279   302  24     LRR 10. 
CARBOHYD   56    56        N-linked (GlcNAc...) (Potential). 
CARBOHYD   63    63        N-linked (GlcNAc...) (Potential). 
CARBOHYD   130   130        N-linked (GlcNAc...) (Potential). 
CARBOHYD   380   380        N-linked (GlcNAc...) (Potential). 
VARIANT   330   330  1     N -> S (in dbSNP:rs6733871 [NCBI]). VAR_022681 
CONFLICT   503   503        I -> T (in Ref. 1; AAO67545 and 2; BAB71240). 
Sequence information
Length: 522 AA [This is the length of the unprocessed precursor] Molecular weight: 58641 Da [This is the MW of the unprocessed precursor] CRC64: 730004673B14245C [This is a checksum on the sequence]
        10         20         30         40         50         60 
MDFLLLGLCL YWLLRRPSGV VLCLLGACFQ MLPAAPSGCP QLCRCEGRLL YCEALNLTEA 

        70         80         90        100        110        120 
PHNLSGLLGL SLRYNSLSEL RAGQFTGLMQ LTWLYLDHNH ICSVQGDAFQ KLRRVKELTL 

       130        140        150        160        170        180 
SSNQITQLPN TTFRPMPNLR SVDLSYNKLQ ALAPDLFHGL RKLTTLHMRA NAIQFVPVRI 

       190        200        210        220        230        240 
FQDCRSLKFL DIGYNQLKSL ARNSFAGLFK LTELHLEHND LVKVNFAHFP RLISLHSLCL 

       250        260        270        280        290        300 
RRNKVAIVVS SLDWVWNLEK MDLSGNEIEY MEPHVFETVP HLQSLQLDSN RLTYIEPRIL 

       310        320        330        340        350        360 
NSWKSLTSIT LAGNLWDCGR NVCALASWLN NFQGRYDGNL QCASPEYAQG EDVLDAVYAF 

       370        380        390        400        410        420 
HLCEDGAEPT SGHLLSAVTN RSDLGPPASS ATTLADGGEG QHDGTFEPAT VALPGGEHAE 

       430        440        450        460        470        480 
NAVQIHKVVT GTMALIFSFL IVVLVLYVSW KCFPASLRQL RQCFVTQRRK QKQKQTMHQM 

       490        500        510        520 
AAMSAQEYYV DYKPNHIEGA LVIINEYGSC TCHQQPAREC EV 

Q86UE6 in FASTA format

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