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Protein

Leucine-rich repeat transmembrane neuronal protein 1

Gene

LRRTM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation, acting at both pre- and postsynaptic level.By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat transmembrane neuronal protein 1
Gene namesi
Name:LRRTM1
ORF Names:UNQ675/PRO1309
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:19408. LRRTM1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini35 – 427393ExtracellularSequence AnalysisAdd
BLAST
Transmembranei428 – 44821HelicalSequence AnalysisAdd
BLAST
Topological domaini449 – 52274CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • axon Source: UniProtKB
  • cell junction Source: UniProtKB-KW
  • endoplasmic reticulum Source: UniProtKB
  • excitatory synapse Source: Ensembl
  • growth cone Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • postsynaptic membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134887293.

Polymorphism and mutation databases

BioMutaiLRRTM1.
DMDMi146330009.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3434Sequence AnalysisAdd
BLAST
Chaini35 – 522488Leucine-rich repeat transmembrane neuronal protein 1PRO_0000018350Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi56 – 561N-linked (GlcNAc...)Sequence Analysis
Glycosylationi63 – 631N-linked (GlcNAc...)Sequence Analysis
Glycosylationi130 – 1301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi380 – 3801N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ86UE6.
PRIDEiQ86UE6.

PTM databases

PhosphoSiteiQ86UE6.

Expressioni

Tissue specificityi

Predominantly expressed in forebrain regions including thalamus and cerebral cortex.2 Publications

Gene expression databases

BgeeiQ86UE6.
CleanExiHS_LRRTM1.
ExpressionAtlasiQ86UE6. baseline and differential.
GenevestigatoriQ86UE6.

Organism-specific databases

HPAiHPA062660.

Interactioni

Protein-protein interaction databases

BioGridi131480. 46 interactions.
IntActiQ86UE6. 1 interaction.
MINTiMINT-7027295.
STRINGi9606.ENSP00000295057.

Structurei

3D structure databases

ProteinModelPortaliQ86UE6.
SMRiQ86UE6. Positions 39-382.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini35 – 6329LRRNTAdd
BLAST
Repeati64 – 8724LRR 1Add
BLAST
Repeati89 – 11123LRR 2Add
BLAST
Repeati112 – 13524LRR 3Add
BLAST
Repeati137 – 15923LRR 4Add
BLAST
Repeati161 – 18323LRR 5Add
BLAST
Repeati184 – 20724LRR 6Add
BLAST
Repeati209 – 23123LRR 7Add
BLAST
Repeati233 – 25523LRR 8Add
BLAST
Repeati256 – 27823LRR 9Add
BLAST
Repeati279 – 30224LRR 10Add
BLAST
Domaini314 – 36552LRRCTAdd
BLAST

Sequence similaritiesi

Belongs to the LRRTM family.Curated
Contains 10 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated
Contains 1 LRRNT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG4886.
GeneTreeiENSGT00760000118777.
HOGENOMiHOG000290681.
HOVERGENiHBG052362.
InParanoidiQ86UE6.
KOiK16665.
OMAiEPDLFHG.
OrthoDBiEOG7TBC1Q.
PhylomeDBiQ86UE6.
TreeFamiTF332659.

Family and domain databases

InterProiIPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamiPF13504. LRR_7. 1 hit.
PF13855. LRR_8. 3 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 3 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
PROSITEiPS51450. LRR. 9 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q86UE6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDFLLLGLCL YWLLRRPSGV VLCLLGACFQ MLPAAPSGCP QLCRCEGRLL
60 70 80 90 100
YCEALNLTEA PHNLSGLLGL SLRYNSLSEL RAGQFTGLMQ LTWLYLDHNH
110 120 130 140 150
ICSVQGDAFQ KLRRVKELTL SSNQITQLPN TTFRPMPNLR SVDLSYNKLQ
160 170 180 190 200
ALAPDLFHGL RKLTTLHMRA NAIQFVPVRI FQDCRSLKFL DIGYNQLKSL
210 220 230 240 250
ARNSFAGLFK LTELHLEHND LVKVNFAHFP RLISLHSLCL RRNKVAIVVS
260 270 280 290 300
SLDWVWNLEK MDLSGNEIEY MEPHVFETVP HLQSLQLDSN RLTYIEPRIL
310 320 330 340 350
NSWKSLTSIT LAGNLWDCGR NVCALASWLN NFQGRYDGNL QCASPEYAQG
360 370 380 390 400
EDVLDAVYAF HLCEDGAEPT SGHLLSAVTN RSDLGPPASS ATTLADGGEG
410 420 430 440 450
QHDGTFEPAT VALPGGEHAE NAVQIHKVVT GTMALIFSFL IVVLVLYVSW
460 470 480 490 500
KCFPASLRQL RQCFVTQRRK QKQKQTMHQM AAMSAQEYYV DYKPNHIEGA
510 520
LVIINEYGSC TCHQQPAREC EV
Length:522
Mass (Da):58,641
Last modified:March 6, 2007 - v2
Checksum:i730004673B14245C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti503 – 5031I → T in AAO67545 (PubMed:12676565).Curated
Sequence conflicti503 – 5031I → T in BAB71240 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti330 – 3301N → S.3 Publications
Corresponds to variant rs6733871 [ dbSNP | Ensembl ].
VAR_022681

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1966.1.
RefSeqiNP_849161.2. NM_178839.4.
UniGeneiHs.591580.

Genome annotation databases

EnsembliENST00000295057; ENSP00000295057; ENSG00000162951.
ENST00000409148; ENSP00000386646; ENSG00000162951.
ENST00000417012; ENSP00000393562; ENSG00000162951.
ENST00000433224; ENSP00000414523; ENSG00000162951.
GeneIDi347730.
KEGGihsa:347730.
UCSCiuc002sok.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Protein Spotlight

The hands to say it - Issue 91 of February 2008

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1966.1.
RefSeqiNP_849161.2. NM_178839.4.
UniGeneiHs.591580.

3D structure databases

ProteinModelPortaliQ86UE6.
SMRiQ86UE6. Positions 39-382.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131480. 46 interactions.
IntActiQ86UE6. 1 interaction.
MINTiMINT-7027295.
STRINGi9606.ENSP00000295057.

PTM databases

PhosphoSiteiQ86UE6.

Polymorphism and mutation databases

BioMutaiLRRTM1.
DMDMi146330009.

Proteomic databases

PaxDbiQ86UE6.
PRIDEiQ86UE6.

Protocols and materials databases

DNASUi347730.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295057; ENSP00000295057; ENSG00000162951.
ENST00000409148; ENSP00000386646; ENSG00000162951.
ENST00000417012; ENSP00000393562; ENSG00000162951.
ENST00000433224; ENSP00000414523; ENSG00000162951.
GeneIDi347730.
KEGGihsa:347730.
UCSCiuc002sok.1. human.

Organism-specific databases

CTDi347730.
GeneCardsiGC02M080427.
H-InvDBHIX0002207.
HGNCiHGNC:19408. LRRTM1.
HPAiHPA062660.
MIMi610867. gene.
neXtProtiNX_Q86UE6.
PharmGKBiPA134887293.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG4886.
GeneTreeiENSGT00760000118777.
HOGENOMiHOG000290681.
HOVERGENiHBG052362.
InParanoidiQ86UE6.
KOiK16665.
OMAiEPDLFHG.
OrthoDBiEOG7TBC1Q.
PhylomeDBiQ86UE6.
TreeFamiTF332659.

Miscellaneous databases

GeneWikiiLRRTM1.
GenomeRNAii347730.
NextBioi99250.
PROiQ86UE6.
SOURCEiSearch...

Gene expression databases

BgeeiQ86UE6.
CleanExiHS_LRRTM1.
ExpressionAtlasiQ86UE6. baseline and differential.
GenevestigatoriQ86UE6.

Family and domain databases

InterProiIPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamiPF13504. LRR_7. 1 hit.
PF13855. LRR_8. 3 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 3 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
PROSITEiPS51450. LRR. 9 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-330.
  4. 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. Cited for: TISSUE SPECIFICITY, IMPRINTING.

Entry informationi

Entry nameiLRRT1_HUMAN
AccessioniPrimary (citable) accession number: Q86UE6
Secondary accession number(s): A8K397, D6W5K1, Q96DN1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 21, 2005
Last sequence update: March 6, 2007
Last modified: May 27, 2015
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.