ID   LRRT1_HUMAN             Reviewed;         522 AA.
AC   Q86UE6; Q96DN1;
DT   21-JUN-2005, integrated into UniProtKB/Swiss-Prot.
DT   06-MAR-2007, sequence version 2.
DT   22-JUL-2008, entry version 52.
DE   RecName: Full=Leucine-rich repeat transmembrane neuronal protein 1;
DE   Flags: Precursor;
GN   Name=LRRTM1; ORFNames=UNQ675/PRO1309;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX   MEDLINE=22563398; PubMed=12676565; DOI=10.1016/S0888-7543(03)00030-2;
RA   Lauren J., Airaksinen M.S., Saarma M., Timmusk T.T.;
RT   "A novel gene family encoding leucine-rich repeat transmembrane
RT   proteins differentially expressed in the nervous system.";
RL   Genomics 81:411-421(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-330.
RX   MEDLINE=22887296; PubMed=12975309; DOI=10.1101/gr.1293003;
RA   Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA   Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA   Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
RA   Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA   Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA   Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA   Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA   Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA   Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale
RT   effort to identify novel human secreted and transmembrane proteins: a
RT   bioinformatics assessment.";
RL   Genome Res. 13:2265-2270(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-330.
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   TISSUE SPECIFICITY.
RX   PubMed=17667961; DOI=10.1038/sj.mp.4002053;
RA   Francks C., Maegawa S., Lauren J., Abrahams B.S., Velayos-Baeza A.,
RA   Medland S.E., Colella S., Groszer M., McAuley E.Z., Caffrey T.M.,
RA   Timmusk T., Pruunsild P., Koppel I., Lind P.A., Matsumoto-Itaba N.,
RA   Nicod J., Xiong L., Joober R., Enard W., Krinsky B., Nanba E.,
RA   Richardson A.J., Riley B.P., Martin N.G., Strittmatter S.M.,
RA   Moeller H.J., Rujescu D., St Clair D., Muglia P., Roos J.L.,
RA   Fisher S.E., Wade-Martins R., Rouleau G.A., Stein J.F.,
RA   Karayiorgou M., Geschwind D.H., Ragoussis J., Kendler K.S.,
RA   Airaksinen M.S., Oshimura M., DeLisi L.E., Monaco A.P.;
RT   "LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is
RT   associated paternally with handedness and schizophrenia.";
RL   Mol. Psychiatry 12:1129-1139(2007).
CC   -!- FUNCTION: May play a role during the development of specific
CC       forebrain structures by influencing neuronal differentiation and
CC       connectivity, with a possible role in intracellular trafficking
CC       within axons.
CC   -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass
CC       type I membrane protein (By similarity).
CC   -!- TISSUE SPECIFICITY: Predominantly expression in forebrain regions
CC       including thalamus and cerebral cortex.
CC   -!- MISCELLANEOUS: Is an imprinted gene that shows parent-of-origin
CC       association with human handedness and schizophrenia. Is a
CC       candidate gene for involvement in several common
CC       neurodevelopmental disorders and may have played a role in human
CC       cognitive and behavioral evolution.
CC   -!- SIMILARITY: Belongs to the LRRTM family.
CC   -!- SIMILARITY: Contains 10 LRR (leucine-rich) repeats.
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DR   EMBL; AY182024; AAO67545.1; -; mRNA.
DR   EMBL; AK056644; BAB71240.1; -; mRNA.
DR   EMBL; AY358310; AAQ88677.1; -; mRNA.
DR   EMBL; BC045113; AAH45113.1; -; mRNA.
DR   RefSeq; NP_849161.2; -.
DR   UniGene; Hs.591580; -.
DR   HSSP; Q9BZR6; 1OZN.
DR   Ensembl; ENSG00000162951; Homo sapiens.
DR   GeneID; 347730; -.
DR   KEGG; hsa:347730; -.
DR   NMPDR; fig|9606.3.peg.18126; -.
DR   H-InvDB; HIX0002207; -.
DR   HGNC; HGNC:19408; LRRTM1.
DR   MIM; 610867; gene.
DR   PharmGKB; PA134887293; -.
DR   HOVERGEN; Q86UE6; -.
DR   ArrayExpress; Q86UE6; -.
DR   CleanEx; HS_LRRTM1; -.
DR   GermOnline; ENSG00000162951; Homo sapiens.
DR   GO; GO:0030424; C:axon; IDA:UniProtKB.
DR   GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR   GO; GO:0030426; C:growth cone; IDA:UniProtKB.
DR   InterPro; IPR001611; LRR.
DR   InterPro; IPR000372; LRR_cys_N.
DR   InterPro; IPR003591; LRR_sub-typ.
DR   Pfam; PF00560; LRR_1; 8.
DR   PRINTS; PR00019; LEURICHRPT.
DR   SMART; SM00369; LRR_TYP; 3.
DR   SMART; SM00013; LRRNT; 1.
PE   2: Evidence at transcript level;
KW   Endoplasmic reticulum; Glycoprotein; Leucine-rich repeat; Membrane;
KW   Polymorphism; Repeat; Signal; Transmembrane.
FT   SIGNAL        1     34       Potential.
FT   CHAIN        35    522       Leucine-rich repeat transmembrane
FT                                neuronal protein 1.
FT                                /FTId=PRO_0000018350.
FT   TOPO_DOM     35    427       Lumenal (Potential).
FT   TRANSMEM    428    448       Potential.
FT   TOPO_DOM    449    522       Cytoplasmic (Potential).
FT   REPEAT       64     87       LRR 1.
FT   REPEAT       89    111       LRR 2.
FT   REPEAT      112    135       LRR 3.
FT   REPEAT      137    159       LRR 4.
FT   REPEAT      161    183       LRR 5.
FT   REPEAT      184    207       LRR 6.
FT   REPEAT      209    231       LRR 7.
FT   REPEAT      233    254       LRR 8.
FT   REPEAT      255    278       LRR 9.
FT   REPEAT      279    302       LRR 10.
FT   CARBOHYD     56     56       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD     63     63       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    130    130       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    380    380       N-linked (GlcNAc...) (Potential).
FT   VARIANT     330    330       N -> S (in dbSNP:rs6733871).
FT                                /FTId=VAR_022681.
FT   CONFLICT    503    503       I -> T (in Ref. 1; AAO67545 and 2;
FT                                BAB71240).
SQ   SEQUENCE   522 AA;  58641 MW;  730004673B14245C CRC64;
     MDFLLLGLCL YWLLRRPSGV VLCLLGACFQ MLPAAPSGCP QLCRCEGRLL YCEALNLTEA
     PHNLSGLLGL SLRYNSLSEL RAGQFTGLMQ LTWLYLDHNH ICSVQGDAFQ KLRRVKELTL
     SSNQITQLPN TTFRPMPNLR SVDLSYNKLQ ALAPDLFHGL RKLTTLHMRA NAIQFVPVRI
     FQDCRSLKFL DIGYNQLKSL ARNSFAGLFK LTELHLEHND LVKVNFAHFP RLISLHSLCL
     RRNKVAIVVS SLDWVWNLEK MDLSGNEIEY MEPHVFETVP HLQSLQLDSN RLTYIEPRIL
     NSWKSLTSIT LAGNLWDCGR NVCALASWLN NFQGRYDGNL QCASPEYAQG EDVLDAVYAF
     HLCEDGAEPT SGHLLSAVTN RSDLGPPASS ATTLADGGEG QHDGTFEPAT VALPGGEHAE
     NAVQIHKVVT GTMALIFSFL IVVLVLYVSW KCFPASLRQL RQCFVTQRRK QKQKQTMHQM
     AAMSAQEYYV DYKPNHIEGA LVIINEYGSC TCHQQPAREC EV
//