LRRT1_HUMAN
ID LRRT1_HUMAN Reviewed; 522 AA.
AC Q86UE6; A8K397; D6W5K1; Q96DN1;
DT 21-JUN-2005, integrated into UniProtKB/Swiss-Prot.
DT 06-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 167.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX 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 proteins
RT differentially expressed in the nervous system.";
RL Genomics 81:411-421(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-330.
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., 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-330.
RX 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., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [4]
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 [5]
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP TISSUE SPECIFICITY, AND IMPRINTING.
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., Moeller H.J.,
RA Rujescu D., St Clair D., Muglia P., Roos J.L., Fisher S.E.,
RA Wade-Martins R., Rouleau G.A., Stein J.F., Karayiorgou M., Geschwind D.H.,
RA Ragoussis J., Kendler K.S., Airaksinen M.S., Oshimura M., DeLisi L.E.,
RA 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: Exhibits strong synaptogenic activity, restricted to
CC excitatory presynaptic differentiation, acting at both pre- and
CC postsynaptic level. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I
CC membrane protein {ECO:0000250}. Postsynaptic cell membrane
CC {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Predominantly expressed in forebrain regions
CC including thalamus and cerebral cortex. {ECO:0000269|PubMed:12676565,
CC ECO:0000269|PubMed:17667961}.
CC -!- MISCELLANEOUS: This gene is imprinted, being predominantly expressed
CC from the paternal allele and showing a variable pattern of maternal
CC down-regulation. May be associated paternally with handedness and
CC schizophrenia.
CC -!- SIMILARITY: Belongs to the LRRTM family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=The hands to say it - Issue
CC 91 of February 2008;
CC URL="https://web.expasy.org/spotlight/back_issues/091";
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DR EMBL; AY182024; AAO67545.1; -; mRNA.
DR EMBL; AK056644; BAB71240.1; -; mRNA.
DR EMBL; AK290512; BAF83201.1; -; mRNA.
DR EMBL; AY358310; AAQ88677.1; -; mRNA.
DR EMBL; CH471053; EAW99566.1; -; Genomic_DNA.
DR EMBL; CH471053; EAW99567.1; -; Genomic_DNA.
DR EMBL; BC045113; AAH45113.1; -; mRNA.
DR CCDS; CCDS1966.1; -.
DR RefSeq; NP_849161.2; NM_178839.4.
DR RefSeq; XP_016859475.1; XM_017003986.1.
DR RefSeq; XP_016859476.1; XM_017003987.1.
DR AlphaFoldDB; Q86UE6; -.
DR SMR; Q86UE6; -.
DR BioGRID; 131480; 95.
DR IntAct; Q86UE6; 39.
DR STRING; 9606.ENSP00000295057; -.
DR TCDB; 8.A.43.1.11; the neat-domain containing methaemoglobin heme sequestration (n-mhs) family.
DR GlyGen; Q86UE6; 4 sites.
DR iPTMnet; Q86UE6; -.
DR PhosphoSitePlus; Q86UE6; -.
DR BioMuta; LRRTM1; -.
DR DMDM; 146330009; -.
DR jPOST; Q86UE6; -.
DR MassIVE; Q86UE6; -.
DR PaxDb; Q86UE6; -.
DR PeptideAtlas; Q86UE6; -.
DR PRIDE; Q86UE6; -.
DR ProteomicsDB; 69810; -.
DR Antibodypedia; 47487; 244 antibodies from 28 providers.
DR DNASU; 347730; -.
DR Ensembl; ENST00000295057.4; ENSP00000295057.3; ENSG00000162951.11.
DR Ensembl; ENST00000409148.1; ENSP00000386646.1; ENSG00000162951.11.
DR Ensembl; ENST00000417012.5; ENSP00000393562.1; ENSG00000162951.11.
DR Ensembl; ENST00000433224.1; ENSP00000414523.1; ENSG00000162951.11.
DR GeneID; 347730; -.
DR KEGG; hsa:347730; -.
DR MANE-Select; ENST00000295057.4; ENSP00000295057.3; NM_178839.5; NP_849161.2.
DR UCSC; uc002soj.4; human.
DR CTD; 347730; -.
DR DisGeNET; 347730; -.
DR GeneCards; LRRTM1; -.
DR HGNC; HGNC:19408; LRRTM1.
DR HPA; ENSG00000162951; Group enriched (brain, salivary gland).
DR MIM; 610867; gene.
DR neXtProt; NX_Q86UE6; -.
DR OpenTargets; ENSG00000162951; -.
DR PharmGKB; PA134887293; -.
DR VEuPathDB; HostDB:ENSG00000162951; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000161705; -.
DR HOGENOM; CLU_032965_0_0_1; -.
DR InParanoid; Q86UE6; -.
DR OMA; LEWTWHF; -.
DR PhylomeDB; Q86UE6; -.
DR TreeFam; TF332659; -.
DR PathwayCommons; Q86UE6; -.
DR Reactome; R-HSA-6794361; Neurexins and neuroligins.
DR SignaLink; Q86UE6; -.
DR BioGRID-ORCS; 347730; 11 hits in 1062 CRISPR screens.
DR GeneWiki; LRRTM1; -.
DR GenomeRNAi; 347730; -.
DR Pharos; Q86UE6; Tbio.
DR PRO; PR:Q86UE6; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q86UE6; protein.
DR Bgee; ENSG00000162951; Expressed in lateral nuclear group of thalamus and 107 other tissues.
DR ExpressionAtlas; Q86UE6; baseline and differential.
DR Genevisible; Q86UE6; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0030424; C:axon; IDA:UniProtKB.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0098982; C:GABA-ergic synapse; IDA:SynGO.
DR GO; GO:0030426; C:growth cone; IDA:UniProtKB.
DR GO; GO:0099060; C:integral component of postsynaptic specialization membrane; IDA:SynGO.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0035640; P:exploration behavior; IEA:Ensembl.
DR GO; GO:0007626; P:locomotory behavior; IEA:Ensembl.
DR GO; GO:0060291; P:long-term synaptic potentiation; IEA:Ensembl.
DR GO; GO:0002091; P:negative regulation of receptor internalization; IEA:Ensembl.
DR GO; GO:0051965; P:positive regulation of synapse assembly; IEA:Ensembl.
DR GO; GO:0035418; P:protein localization to synapse; IEA:Ensembl.
DR GO; GO:0031623; P:receptor internalization; IEA:Ensembl.
DR GO; GO:0050808; P:synapse organization; IEA:Ensembl.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF13855; LRR_8; 3.
DR SMART; SM00369; LRR_TYP; 9.
DR PROSITE; PS51450; LRR; 9.
PE 2: Evidence at transcript level;
KW Cell membrane; Glycoprotein; Leucine-rich repeat; Membrane;
KW Postsynaptic cell membrane; Reference proteome; Repeat; Signal; Synapse;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..34
FT /evidence="ECO:0000255"
FT CHAIN 35..522
FT /note="Leucine-rich repeat transmembrane neuronal protein
FT 1"
FT /id="PRO_0000018350"
FT TOPO_DOM 35..427
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 428..448
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 449..522
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 35..63
FT /note="LRRNT"
FT REPEAT 64..87
FT /note="LRR 1"
FT REPEAT 89..111
FT /note="LRR 2"
FT REPEAT 112..135
FT /note="LRR 3"
FT REPEAT 137..159
FT /note="LRR 4"
FT REPEAT 161..183
FT /note="LRR 5"
FT REPEAT 184..207
FT /note="LRR 6"
FT REPEAT 209..231
FT /note="LRR 7"
FT REPEAT 233..255
FT /note="LRR 8"
FT REPEAT 256..278
FT /note="LRR 9"
FT REPEAT 279..302
FT /note="LRR 10"
FT DOMAIN 314..365
FT /note="LRRCT"
FT REGION 382..401
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 56
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 63
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 130
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 380
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 330
FT /note="N -> S (in dbSNP:rs6733871)"
FT /evidence="ECO:0000269|PubMed:12975309,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334"
FT /id="VAR_022681"
FT CONFLICT 503
FT /note="I -> T (in Ref. 1; AAO67545 and 2; BAB71240)"
FT /evidence="ECO:0000305"
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
