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)

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.6
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 9 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Leucine-rich repeat Repeat Signal Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	axon Inferred from direct assay Ref.6. Source: UniProtKB endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell growth cone Inferred from direct assay Ref.6. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
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	Helical; Potential
	Topological domain	449 – 522	74	Cytoplasmic Potential
	Domain	35 – 66	32	LRRNT
	Repeat	90 – 111	22	LRR 1
	Repeat	114 – 135	22	LRR 2
	Repeat	138 – 159	22	LRR 3
	Repeat	162 – 183	22	LRR 4
	Repeat	186 – 207	22	LRR 5
	Repeat	210 – 230	21	LRR 6
	Repeat	234 – 255	22	LRR 7
	Repeat	257 – 278	22	LRR 8
	Repeat	281 – 302	22	LRR 9
	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: 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]	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: 15489334] [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: 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
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.
SMR	Q86UE6. Positions 39-363.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-7027295.
STRING	Q86UE6.
Polymorphism databases
DMDM	146330009.
Proteomic databases
PRIDE	Q86UE6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295057; ENSP00000295057; ENSG00000162951. ENST00000409148; ENSP00000386646; ENSG00000162951. ENST00000417012; ENSP00000393562; ENSG00000162951. ENST00000433224; ENSP00000414523; ENSG00000162951.
GeneID	347730.
KEGG	hsa:347730.
NMPDR	fig|9606.3.peg.18126.
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	prNOG12332.
GeneTree	ENSGT00600000084202.
HOGENOM	HBG443538.
HOVERGEN	HBG052362.
InParanoid	Q86UE6.
OMA	AFHLCED.
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]
Pfam	PF00560. LRR_1. 1 hit. [Graphical view]
SMART	SM00369. LRR_TYP. 3 hits. SM00013. LRRNT. 1 hit. [Graphical view]
PROSITE	PS51450. LRR. 9 hits. [Graphical view]
ProtoNet	Search...
Other
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:	January 25, 2012
This is version 85 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.