Q86UE6 (LRRT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Leucine-rich repeat transmembrane neuronal protein 1

Gene names

Name:	LRRTM1
ORF Names:	UNQ675/PRO1309

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	522 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation, acting at both pre- and postsynaptic level By similarity.
Subcellular location	Cell membrane; Single-pass type I membrane protein By similarity. Cell junction › synapse › postsynaptic cell membrane; Single-pass type I membrane protein By similarity.
Tissue specificity	Predominantly expressed in forebrain regions including thalamus and cerebral cortex. Ref.1 Ref.6
Miscellaneous	This gene is imprinted, being predominantly expressed from the paternal allele and showing a variable pattern of maternal down-regulation. May be associated paternally with handedness and schizophrenia.
Sequence similarities	Belongs to the LRRTM family. Contains 10 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Polymorphism
Domain	Leucine-rich repeat Repeat Signal Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	behavior Inferred from electronic annotation. Source: Compara protein localization to synapse Inferred from electronic annotation. Source: Compara synapse organization Inferred from electronic annotation. Source: Compara
Cellular_component	axon Inferred from direct assay Ref.6. Source: UniProtKB cell junction Inferred from electronic annotation. Source: UniProtKB-KW endoplasmic reticulum Inferred from direct assay Ref.6. Source: UniProtKB excitatory synapse Inferred from electronic annotation. Source: Compara growth cone Inferred from direct assay Ref.6. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 34	34	Potential
	Chain	35 – 522	488	Leucine-rich repeat transmembrane neuronal protein 1		PRO_0000018350
Regions
	Topological domain	35 – 427	393	Extracellular Potential
	Transmembrane	428 – 448	21	Helical; Potential
	Topological domain	449 – 522	74	Cytoplasmic Potential
	Domain	35 – 63	29	LRRNT
	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 – 255	23	LRR 8
	Repeat	256 – 278	23	LRR 9
	Repeat	279 – 302	24	LRR 10
	Domain	314 – 365	52	LRRCT
Amino acid modifications
	Glycosylation	56	1	N-linked (GlcNAc...) Potential
	Glycosylation	63	1	N-linked (GlcNAc...) Potential
	Glycosylation	130	1	N-linked (GlcNAc...) Potential
	Glycosylation	380	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	330	1	N → S. Ref.2 Ref.3 Ref.5 Corresponds to variant rs6733871 [ dbSNP | Ensembl ].		VAR_022681
Experimental info
	Sequence conflict	503	1	I → T in AAO67545. Ref.1
	Sequence conflict	503	1	I → T in BAB71240. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q86UE6 [UniParc]. Last modified March 6, 2007. Version 2. Checksum: 730004673B14245C	FASTA	522	58,641
	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

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel gene family encoding leucine-rich repeat transmembrane proteins differentially expressed in the nervous system." Lauren J., Airaksinen M.S., Saarma M., Timmusk T.T. Genomics 81:411-421(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[2]	"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], VARIANT SER-330. Tissue: Brain.
[3]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." 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. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-330.
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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], VARIANT SER-330. Tissue: Brain.
[6]	"LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia." 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. Mol. Psychiatry 12:1129-1139(2007) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, IMPRINTING.
+	Additional computationally mapped references.

Web resources

Protein Spotlight

The hands to say it - Issue 91 of February 2008

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY182024 mRNA. Translation: AAO67545.1. AK056644 mRNA. Translation: BAB71240.1. AK290512 mRNA. Translation: BAF83201.1. AY358310 mRNA. Translation: AAQ88677.1. CH471053 Genomic DNA. Translation: EAW99566.1. CH471053 Genomic DNA. Translation: EAW99567.1. BC045113 mRNA. Translation: AAH45113.1.
IPI	IPI00328716.
RefSeq	NP_849161.2. NM_178839.4.
UniGene	Hs.591580.
3D structure databases
ProteinModelPortal	Q86UE6.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-7027295.
STRING	9606.ENSP00000295057.
PTM databases
PhosphoSite	Q86UE6.
Polymorphism databases
DMDM	146330009.
Proteomic databases
PaxDb	Q86UE6.
PRIDE	Q86UE6.
Protocols and materials databases
DNASU	347730.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295057; ENSP00000295057; ENSG00000162951. ENST00000409148; ENSP00000386646; ENSG00000162951. ENST00000417012; ENSP00000393562; ENSG00000162951. ENST00000433224; ENSP00000414523; ENSG00000162951.
GeneID	347730.
KEGG	hsa:347730.
UCSC	uc002sok.1. human.
Organism-specific databases
CTD	347730.
GeneCards	GC02M080427.
H-InvDB	HIX0002207.
HGNC	HGNC:19408. LRRTM1.
MIM	610867. gene.
neXtProt	NX_Q86UE6.
PharmGKB	PA134887293.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG4886.
HOGENOM	HOG000290681.
HOVERGEN	HBG052362.
InParanoid	Q86UE6.
KO	K16665.
OMA	EPDLFHG.
OrthoDB	EOG4FN4HG.
PhylomeDB	Q86UE6.
Gene expression databases
ArrayExpress	Q86UE6.
Bgee	Q86UE6.
CleanEx	HS_LRRTM1.
Genevestigator	Q86UE6.
GermOnline	ENSG00000162951. Homo sapiens.
Family and domain databases
InterPro	IPR001611. Leu-rich_rpt. IPR003591. Leu-rich_rpt_typical-subtyp. IPR000372. LRR-contain_N. [Graphical view]
SMART	SM00369. LRR_TYP. 3 hits. SM00013. LRRNT. 1 hit. [Graphical view]
PROSITE	PS51450. LRR. 9 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	347730.
NextBio	99250.
SOURCE	Search...

Entry information

Entry name

LRRT1_HUMAN

Accession

Primary (citable) accession number: Q86UE6
Secondary accession number(s): A8K397, D6W5K1, Q96DN1

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 21, 2005
Last sequence update:	March 6, 2007
Last modified:	May 1, 2013
This is version 97 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.