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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

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.

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-6794361. Interactions of neurexins and neuroligins at synapses.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:19408. LRRTM1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini35 – 427ExtracellularSequence analysisAdd BLAST393
Transmembranei428 – 448HelicalSequence analysisAdd BLAST21
Topological domaini449 – 522CytoplasmicSequence analysisAdd BLAST74

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

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi347730.
OpenTargetsiENSG00000162951.
PharmGKBiPA134887293.

Polymorphism and mutation databases

BioMutaiLRRTM1.
DMDMi146330009.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 34Sequence analysisAdd BLAST34
ChainiPRO_000001835035 – 522Leucine-rich repeat transmembrane neuronal protein 1Add BLAST488

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi56N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi63N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi130N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi380N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ86UE6.
PaxDbiQ86UE6.
PeptideAtlasiQ86UE6.
PRIDEiQ86UE6.

PTM databases

iPTMnetiQ86UE6.
PhosphoSitePlusiQ86UE6.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000162951.
CleanExiHS_LRRTM1.
ExpressionAtlasiQ86UE6. baseline and differential.
GenevisibleiQ86UE6. HS.

Organism-specific databases

HPAiHPA062660.

Interactioni

Protein-protein interaction databases

BioGridi131480. 41 interactors.
IntActiQ86UE6. 1 interactor.
MINTiMINT-7027295.
STRINGi9606.ENSP00000295057.

Structurei

3D structure databases

ProteinModelPortaliQ86UE6.
SMRiQ86UE6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini35 – 63LRRNTAdd BLAST29
Repeati64 – 87LRR 1Add BLAST24
Repeati89 – 111LRR 2Add BLAST23
Repeati112 – 135LRR 3Add BLAST24
Repeati137 – 159LRR 4Add BLAST23
Repeati161 – 183LRR 5Add BLAST23
Repeati184 – 207LRR 6Add BLAST24
Repeati209 – 231LRR 7Add BLAST23
Repeati233 – 255LRR 8Add BLAST23
Repeati256 – 278LRR 9Add BLAST23
Repeati279 – 302LRR 10Add BLAST24
Domaini314 – 365LRRCTAdd BLAST52

Sequence similaritiesi

Belongs to the LRRTM family.Curated

Keywords - Domaini

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

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00760000118777.
HOGENOMiHOG000290681.
HOVERGENiHBG052362.
InParanoidiQ86UE6.
KOiK16665.
OMAiEPDLFHG.
OrthoDBiEOG091G03BI.
PhylomeDBiQ86UE6.
TreeFamiTF332659.

Family and domain databases

Gene3Di3.80.10.10. 3 hits.
InterProiView protein in InterPro
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
PfamiView protein in Pfam
PF13855. LRR_8. 3 hits.
SMARTiView protein in SMART
SM00369. LRR_TYP. 9 hits.
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiView protein in PROSITE
PS51450. LRR. 9 hits.

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)DescriptionActionsGraphical viewLength
Sequence conflicti503I → T in AAO67545 (PubMed:12676565).Curated1
Sequence conflicti503I → T in BAB71240 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022681330N → S3 PublicationsCorresponds to variant dbSNP:rs6733871Ensembl.1

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.
XP_016859475.1. XM_017003986.1.
XP_016859476.1. XM_017003987.1.
UniGeneiHs.591580.

Genome annotation databases

EnsembliENST00000295057; ENSP00000295057; ENSG00000162951.
ENST00000409148; ENSP00000386646; ENSG00000162951.
ENST00000417012; ENSP00000393562; ENSG00000162951.
ENST00000433224; ENSP00000414523; ENSG00000162951.
GeneIDi347730.
KEGGihsa:347730.
UCSCiuc002soj.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLRRT1_HUMAN
AccessioniPrimary (citable) accession number: Q86UE6
Secondary accession number(s): A8K397, D6W5K1, Q96DN1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 21, 2005
Last sequence update: March 6, 2007
Last modified: August 30, 2017
This is version 136 of the entry and version 2 of the sequence. See 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

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