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Protein

SLIT and NTRK-like protein 1

Gene

SLITRK1

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

Functioni

It is involved in synaptogenesis and promotes excitatory synapse differentiation (PubMed:27273464, PubMed:27812321). Enhances neuronal dendrite outgrowth (PubMed:16224024, PubMed:19640509).4 Publications

GO - Biological processi

  • adult behavior Source: Ensembl
  • axonogenesis Source: Ensembl
  • homeostatic process Source: Ensembl
  • multicellular organism growth Source: Ensembl
  • positive regulation of axonogenesis Source: UniProtKB
  • positive regulation of synapse assembly Source: Ensembl
  • synapse assembly Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-388844. Receptor-type tyrosine-protein phosphatases.

Names & Taxonomyi

Protein namesi
Recommended name:
SLIT and NTRK-like protein 1
Alternative name(s):
Leucine-rich repeat-containing protein 12
Gene namesi
Name:SLITRK1
Synonyms:KIAA1910, LRRC12
ORF Names:UNQ233/PRO266
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000178235.7.
HGNCiHGNC:20297. SLITRK1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini18 – 622ExtracellularSequence analysisAdd BLAST605
Transmembranei623 – 643HelicalSequence analysisAdd BLAST21
Topological domaini644 – 696CytoplasmicSequence analysisAdd BLAST53

Keywords - Cellular componenti

Cell junction, Membrane, Secreted, Synapse

Pathology & Biotechi

Involvement in diseasei

Trichotillomania (TTM)3 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. Affected individuals may develop physical complications and often have overlapping psychological disorders, such as Gilles de la Tourette syndrome or obsessive-compulsive disorder.
See also OMIM:613229
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077628584R → K in TTM; unknown pathological significance; does not affect synaptogenesis. 2 Publications1
Natural variantiVAR_077629593S → G in TTM; unknown pathological significance; does not affect synaptogenesis. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi85V → M: Does not affect surface expression. 1 Publication1
Mutagenesisi695S → A: Loss of phosphorylation. Not able to promote neurite outgrowth. 1 Publication1
Mutagenesisi695S → E: Able to promote neurite outgrowth as the wild-type. 1 Publication1

Organism-specific databases

DisGeNETi114798.
GeneReviewsiSLITRK1.
MalaCardsiSLITRK1.
MIMi613229. phenotype.
OpenTargetsiENSG00000178235.
Orphaneti856. Tourette syndrome.
PharmGKBiPA134944423.

Polymorphism and mutation databases

DMDMi46396997.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 17Sequence analysisAdd BLAST17
ChainiPRO_000003267318 – 696SLIT and NTRK-like protein 1Sequence analysisAdd BLAST679

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei695Phosphoserine; by CK21 Publication1

Post-translational modificationi

Undergoes proteolytic cleavage that results in shedding of the ectodomain and cleavage of the C-terminal cytoplasmic tail. Glycosylated. Phosphorylation at Ser-695 is necessary for proper function in promoting neurite outgrowth.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ96PX8.
PaxDbiQ96PX8.
PeptideAtlasiQ96PX8.
PRIDEiQ96PX8.

PTM databases

iPTMnetiQ96PX8.
PhosphoSitePlusiQ96PX8.

Expressioni

Tissue specificityi

Expressed predominantly in the frontal lobe of the cerebral cortex of the brain. Also expressed in some astrocytic brain tumors such as astrocytomas, oligodendrogliomas, glioblastomas, gangliogliomas and primitive neuroectodermal tumors.1 Publication

Developmental stagei

At 20 weeks of gestation, expressed in multiple brain regions, including the developing neo-cortical plate, subplate zone, striatum, globus pallidus, thalamus and subthalamus.1 Publication

Gene expression databases

BgeeiENSG00000178235.
CleanExiHS_SLITRK1.
GenevisibleiQ96PX8. HS.

Organism-specific databases

HPAiHPA012414.

Interactioni

Subunit structurei

Can form homodimers; homodimerization requires repeat LRR 2 (PubMed:27273464). Interacts with YWHAB, YWHAE, YWHAG, YWHAH, SFN, YWHAQ and YWHAZ (PubMed:19640509).2 Publications

Protein-protein interaction databases

IntActiQ96PX8. 2 interactors.
MINTiMINT-7997455.
STRINGi9606.ENSP00000366288.

Structurei

Secondary structure

1696
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni23 – 26Combined sources4
Beta strandi28 – 30Combined sources3
Beta strandi35 – 41Combined sources7
Beta strandi50 – 52Combined sources3
Beta strandi61 – 64Combined sources4
Turni75 – 78Combined sources4
Helixi79 – 81Combined sources3
Beta strandi84 – 88Combined sources5
Turni99 – 104Combined sources6
Beta strandi110 – 112Combined sources3
Turni123 – 128Combined sources6
Beta strandi134 – 136Combined sources3
Helixi147 – 149Combined sources3
Beta strandi158 – 160Combined sources3
Turni171 – 176Combined sources6
Beta strandi181 – 183Combined sources3
Helixi194 – 198Combined sources5
Beta strandi205 – 208Combined sources4
Turni218 – 220Combined sources3
Helixi221 – 229Combined sources9
Beta strandi240 – 243Combined sources4
Turni245 – 249Combined sources5
Helixi252 – 254Combined sources3
Helixi257 – 260Combined sources4
Beta strandi344 – 349Combined sources6
Beta strandi355 – 358Combined sources4
Beta strandi377 – 381Combined sources5
Helixi392 – 395Combined sources4
Beta strandi402 – 405Combined sources4
Turni416 – 421Combined sources6
Beta strandi427 – 429Combined sources3
Helixi441 – 443Combined sources3
Beta strandi451 – 453Combined sources3
Helixi466 – 468Combined sources3
Beta strandi475 – 477Combined sources3
Beta strandi490 – 493Combined sources4
Beta strandi497 – 500Combined sources4
Helixi511 – 515Combined sources5
Beta strandi523 – 525Combined sources3
Turni535 – 537Combined sources3
Helixi538 – 545Combined sources8
Beta strandi549 – 552Combined sources4
Beta strandi557 – 561Combined sources5
Helixi562 – 564Combined sources3
Turni569 – 571Combined sources3
Helixi574 – 577Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RCAX-ray2.99B20-264[»]
4RCWX-ray3.19A/B341-580[»]
ProteinModelPortaliQ96PX8.
SMRiQ96PX8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini18 – 57LRRNT 1Add BLAST40
Repeati59 – 80LRR 1Add BLAST22
Repeati83 – 104LRR 2Add BLAST22
Repeati106 – 128LRR 3Add BLAST23
Repeati131 – 152LRR 4Add BLAST22
Repeati155 – 176LRR 5Add BLAST22
Repeati178 – 199LRR 6Add BLAST22
Domaini212 – 263LRRCT 1Add BLAST52
Domaini332 – 373LRRNT 2Add BLAST42
Repeati376 – 397LRR 7Add BLAST22
Repeati400 – 421LRR 8Add BLAST22
Repeati424 – 445LRR 9Add BLAST22
Repeati448 – 469LRR 10Add BLAST22
Repeati472 – 493LRR 11Add BLAST22
Repeati495 – 516LRR 12Add BLAST22
Domaini529 – 580LRRCT 2Add BLAST52

Sequence similaritiesi

Belongs to the SLITRK family.Curated

Keywords - Domaini

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

Phylogenomic databases

eggNOGiENOG410IGN5. Eukaryota.
ENOG4111D19. LUCA.
GeneTreeiENSGT00790000122963.
HOGENOMiHOG000290667.
HOVERGENiHBG056407.
InParanoidiQ96PX8.
OMAiDLKCESP.
OrthoDBiEOG091G02AI.
PhylomeDBiQ96PX8.
TreeFamiTF351826.

Family and domain databases

Gene3Di3.80.10.10. 4 hits.
InterProiView protein in InterPro
IPR000483. Cys-rich_flank_reg_C.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
PfamiView protein in Pfam
PF13855. LRR_8. 2 hits.
SMARTiView protein in SMART
SM00369. LRR_TYP. 11 hits.
SM00082. LRRCT. 2 hits.
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiView protein in PROSITE
PS51450. LRR. 12 hits.

Sequencei

Sequence statusi: Complete.

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

Q96PX8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLLWILLLET SLCFAAGNVT GDVCKEKICS CNEIEGDLHV DCEKKGFTSL
60 70 80 90 100
QRFTAPTSQF YHLFLHGNSL TRLFPNEFAN FYNAVSLHME NNGLHEIVPG
110 120 130 140 150
AFLGLQLVKR LHINNNKIKS FRKQTFLGLD DLEYLQADFN LLRDIDPGAF
160 170 180 190 200
QDLNKLEVLI LNDNLISTLP ANVFQYVPIT HLDLRGNRLK TLPYEEVLEQ
210 220 230 240 250
IPGIAEILLE DNPWDCTCDL LSLKEWLENI PKNALIGRVV CEAPTRLQGK
260 270 280 290 300
DLNETTEQDL CPLKNRVDSS LPAPPAQEET FAPGPLPTPF KTNGQEDHAT
310 320 330 340 350
PGSAPNGGTK IPGNWQIKIR PTAAIATGSS RNKPLANSLP CPGGCSCDHI
360 370 380 390 400
PGSGLKMNCN NRNVSSLADL KPKLSNVQEL FLRDNKIHSI RKSHFVDYKN
410 420 430 440 450
LILLDLGNNN IATVENNTFK NLLDLRWLYM DSNYLDTLSR EKFAGLQNLE
460 470 480 490 500
YLNVEYNAIQ LILPGTFNAM PKLRILILNN NLLRSLPVDV FAGVSLSKLS
510 520 530 540 550
LHNNYFMYLP VAGVLDQLTS IIQIDLHGNP WECSCTIVPF KQWAERLGSE
560 570 580 590 600
VLMSDLKCET PVNFFRKDFM LLSNDEICPQ LYARISPTLT SHSKNSTGLA
610 620 630 640 650
ETGTHSNSYL DTSRVSISVL VPGLLLVFVT SAFTVVGMLV FILRNRKRSK
660 670 680 690
RRDANSSASE INSLQTVCDS SYWHNGPYNA DGAHRVYDCG SHSLSD
Length:696
Mass (Da):77,735
Last modified:March 29, 2004 - v2
Checksum:iE0E9ACEDE0F0ACEC
GO

Sequence cautioni

The sequence BAB67803 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077626400N → I Probable disease-associated mutation found in a patient with obsessive-compulsive disorder; decreased levels of mature protein; decreased localization to the cell membrane surface expression; decreased function in synaptogenesis. 2 Publications1
Natural variantiVAR_077627418T → S Probable disease-associated mutation found in a patient with obsessive-compulsive disorder; decreased levels of mature protein; decreased localization to the cell membrane surface expression; decreased function in synaptogenesis. 3 PublicationsCorresponds to variant dbSNP:rs150504822Ensembl.1
Natural variantiVAR_027755552L → M. Corresponds to variant dbSNP:rs7491932Ensembl.1
Natural variantiVAR_077628584R → K in TTM; unknown pathological significance; does not affect synaptogenesis. 2 Publications1
Natural variantiVAR_077629593S → G in TTM; unknown pathological significance; does not affect synaptogenesis. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB067497 mRNA. Translation: BAB67803.1. Different initiation.
AY358289 mRNA. Translation: AAQ88656.1.
AL355481 Genomic DNA. No translation available.
BC051738 mRNA. Translation: AAH51738.1.
CCDSiCCDS9464.1.
RefSeqiNP_001268432.1. NM_001281503.1.
NP_443142.1. NM_052910.2.
UniGeneiHs.415478.
Hs.627477.
Hs.694617.

Genome annotation databases

EnsembliENST00000377084; ENSP00000366288; ENSG00000178235.
GeneIDi114798.
KEGGihsa:114798.
UCSCiuc001vlk.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSLIK1_HUMAN
AccessioniPrimary (citable) accession number: Q96PX8
Secondary accession number(s): Q5U5I6, Q96SF9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: March 29, 2004
Last modified: September 27, 2017
This is version 146 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  7. SIMILARITY comments
    Index of protein domains and families