Reviewed, UniProtKB/Swiss-Prot Q86UE6 (LRRT1_HUMAN)

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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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	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. Ref.1 Ref.5
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.
Sequence similarities	Belongs to the LRRTM family. Contains 10 LRR (leucine-rich) repeats.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Leucine-rich repeat Repeat Signal Transmembrane
PTM	Glycoprotein
Gene Ontology (GO)
Cellular component	axon Ref.5 Inferred from direct assay. Source: UniProtKB endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell growth cone Ref.5 Inferred from direct assay. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	protein binding Inferred from electronic annotation. Source: InterPro
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	Lumenal Potential
	Transmembrane	428 – 448	21	Potential
	Topological domain	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
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: dbSNP rs6733871. Ref.2 Ref.3 Ref.4		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)
	Q86UE6-1 [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: 12676565] [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: 14702039] [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: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-330.
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-330. Tissue: Brain.
[5]	"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: 17667961] [Abstract] Cited for: TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Web resources

Protein Spotlight

The hands to say it - Issue 91 of February 2008

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY182024 mRNA. Translation: AAO67545.1. AK056644 mRNA. Translation: BAB71240.1. AK290512 mRNA. Translation: BAF83201.1. AY358310 mRNA. Translation: AAQ88677.1. BC045113 mRNA. Translation: AAH45113.1.
IPI	IPI00328716.
RefSeq	NP_849161.2.
UniGene	Hs.591580
3D structure databases
HSSP	HSSP built from PDB template 1OZN based on UniProtKB Q9BZR6.
ModBase	Search...
Proteomic databases
PRIDE	Q86UE6.
Genome annotation databases
Ensembl	ENSG00000162951. Homo sapiens. [Contig view]
GeneID	347730.
KEGG	hsa:347730.
NMPDR	fig|9606.3.peg.18126.
Organism-specific databases
GeneCards	GC02M080427.
H-InvDB	HIX0002207.
HGNC	HGNC:19408. LRRTM1.
MIM	610867. gene.
PharmGKB	PA134887293.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q86UE6.
OMA	Q86UE6. GTMALIF.
Gene expression databases
ArrayExpress	Q86UE6.
Bgee	Q86UE6.
CleanEx	HS_LRRTM1.
GermOnline	ENSG00000162951. Homo sapiens.
Family and domain databases
InterPro	IPR001611. Leu-rich_rpt. IPR000372. Leu-rich_rpt_Cys-rich-reg_N. IPR003591. Leu-rich_rpt_typical-subtyp. [Graphical view]
Pfam	PF00560. LRR_1. 5 hits. [Graphical view]
SMART	SM00369. LRR_TYP. 3 hits. SM00013. LRRNT. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	99250.
SOURCE	Search...

Entry information

Entry name

LRRT1_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 21, 2005
Last sequence update:	March 6, 2007
Last modified:	May 26, 2009
This is version 60 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)