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Q96PX8

- SLIK1_HUMAN

UniProt

Q96PX8 - SLIK1_HUMAN

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Protein
SLIT and NTRK-like protein 1
Gene
SLITRK1, KIAA1910, LRRC12, UNQ233/PRO266
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Enhances neuronal dendrite outgrowth.1 Publication

GO - Biological processi

  1. adult behavior Source: Ensembl
  2. axonogenesis Source: Ensembl
  3. homeostatic process Source: Ensembl
  4. multicellular organism growth Source: Ensembl
Complete GO annotation...

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)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:20297. SLITRK1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini18 – 622605Extracellular Reviewed prediction
Add
BLAST
Transmembranei623 – 64321Helical; Reviewed prediction
Add
BLAST
Topological domaini644 – 69653Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Gilles de la Tourette syndrome (GTS) [MIM:137580]: Neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities.
Note: The disease may be caused by mutations affecting the gene represented in this entry.1 Publication
Trichotillomania (TTM) [MIM:613229]: A 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.
Note: The disease may be caused by mutations affecting the gene represented in this entry.1 Publication

Organism-specific databases

MIMi137580. phenotype.
613229. phenotype.
Orphaneti856. Tourette syndrome.
PharmGKBiPA134944423.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1717 Reviewed prediction
Add
BLAST
Chaini18 – 696679SLIT and NTRK-like protein 1
PRO_0000032673Add
BLAST

Proteomic databases

PaxDbiQ96PX8.
PeptideAtlasiQ96PX8.
PRIDEiQ96PX8.

PTM databases

PhosphoSiteiQ96PX8.

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

BgeeiQ96PX8.
CleanExiHS_SLITRK1.
GenevestigatoriQ96PX8.

Organism-specific databases

HPAiHPA012414.

Interactioni

Protein-protein interaction databases

IntActiQ96PX8. 1 interaction.
MINTiMINT-7997455.
STRINGi9606.ENSP00000366288.

Structurei

3D structure databases

ProteinModelPortaliQ96PX8.
SMRiQ96PX8. Positions 29-260, 334-581.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 5740LRRNT 1
Add
BLAST
Repeati59 – 8022LRR 1
Add
BLAST
Repeati83 – 10422LRR 2
Add
BLAST
Repeati106 – 12823LRR 3
Add
BLAST
Repeati131 – 15222LRR 4
Add
BLAST
Repeati155 – 17622LRR 5
Add
BLAST
Repeati178 – 19922LRR 6
Add
BLAST
Domaini212 – 26352LRRCT 1
Add
BLAST
Domaini332 – 37342LRRNT 2
Add
BLAST
Repeati376 – 39722LRR 7
Add
BLAST
Repeati400 – 42122LRR 8
Add
BLAST
Repeati424 – 44522LRR 9
Add
BLAST
Repeati448 – 46922LRR 10
Add
BLAST
Repeati472 – 49322LRR 11
Add
BLAST
Repeati495 – 51622LRR 12
Add
BLAST
Domaini529 – 58052LRRCT 2
Add
BLAST

Sequence similaritiesi

Belongs to the SLITRK family.
Contains 2 LRRCT domains.
Contains 2 LRRNT domains.

Keywords - Domaini

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

Phylogenomic databases

eggNOGiNOG236179.
HOGENOMiHOG000290667.
HOVERGENiHBG056407.
InParanoidiQ96PX8.
OMAiVICEAPT.
OrthoDBiEOG7W9RT2.
PhylomeDBiQ96PX8.
TreeFamiTF351826.

Family and domain databases

InterProiIPR000483. Cys-rich_flank_reg_C.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamiPF00560. LRR_1. 1 hit.
PF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 2 hits.
SM00082. LRRCT. 2 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
PROSITEiPS51450. LRR. 12 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q96PX8-1 [UniParc]FASTAAdd to Basket

« Hide

MLLWILLLET SLCFAAGNVT GDVCKEKICS CNEIEGDLHV DCEKKGFTSL    50
QRFTAPTSQF YHLFLHGNSL TRLFPNEFAN FYNAVSLHME NNGLHEIVPG 100
AFLGLQLVKR LHINNNKIKS FRKQTFLGLD DLEYLQADFN LLRDIDPGAF 150
QDLNKLEVLI LNDNLISTLP ANVFQYVPIT HLDLRGNRLK TLPYEEVLEQ 200
IPGIAEILLE DNPWDCTCDL LSLKEWLENI PKNALIGRVV CEAPTRLQGK 250
DLNETTEQDL CPLKNRVDSS LPAPPAQEET FAPGPLPTPF KTNGQEDHAT 300
PGSAPNGGTK IPGNWQIKIR PTAAIATGSS RNKPLANSLP CPGGCSCDHI 350
PGSGLKMNCN NRNVSSLADL KPKLSNVQEL FLRDNKIHSI RKSHFVDYKN 400
LILLDLGNNN IATVENNTFK NLLDLRWLYM DSNYLDTLSR EKFAGLQNLE 450
YLNVEYNAIQ LILPGTFNAM PKLRILILNN NLLRSLPVDV FAGVSLSKLS 500
LHNNYFMYLP VAGVLDQLTS IIQIDLHGNP WECSCTIVPF KQWAERLGSE 550
VLMSDLKCET PVNFFRKDFM LLSNDEICPQ LYARISPTLT SHSKNSTGLA 600
ETGTHSNSYL DTSRVSISVL VPGLLLVFVT SAFTVVGMLV FILRNRKRSK 650
RRDANSSASE INSLQTVCDS SYWHNGPYNA DGAHRVYDCG SHSLSD 696
Length:696
Mass (Da):77,735
Last modified:March 29, 2004 - v2
Checksum:iE0E9ACEDE0F0ACEC
GO

Sequence cautioni

The sequence BAB67803.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti552 – 5521L → M.
Corresponds to variant rs7491932 [ dbSNP | Ensembl ].
VAR_027755

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti418 – 4181T → S in AAH51738. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB067497 mRNA. Translation: BAB67803.1. Different initiation.
AY358289 mRNA. Translation: AAQ88656.1.
AL355481 Genomic DNA. Translation: CAC37488.1.
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.3. human.

Polymorphism databases

DMDMi46396997.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB067497 mRNA. Translation: BAB67803.1 . Different initiation.
AY358289 mRNA. Translation: AAQ88656.1 .
AL355481 Genomic DNA. Translation: CAC37488.1 .
BC051738 mRNA. Translation: AAH51738.1 .
CCDSi CCDS9464.1.
RefSeqi NP_001268432.1. NM_001281503.1.
NP_443142.1. NM_052910.2.
UniGenei Hs.415478.
Hs.627477.
Hs.694617.

3D structure databases

ProteinModelPortali Q96PX8.
SMRi Q96PX8. Positions 29-260, 334-581.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q96PX8. 1 interaction.
MINTi MINT-7997455.
STRINGi 9606.ENSP00000366288.

PTM databases

PhosphoSitei Q96PX8.

Polymorphism databases

DMDMi 46396997.

Proteomic databases

PaxDbi Q96PX8.
PeptideAtlasi Q96PX8.
PRIDEi Q96PX8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000377084 ; ENSP00000366288 ; ENSG00000178235 .
GeneIDi 114798.
KEGGi hsa:114798.
UCSCi uc001vlk.3. human.

Organism-specific databases

CTDi 114798.
GeneCardsi GC13M084451.
GeneReviewsi SLITRK1.
HGNCi HGNC:20297. SLITRK1.
HPAi HPA012414.
MIMi 137580. phenotype.
609678. gene.
613229. phenotype.
neXtProti NX_Q96PX8.
Orphaneti 856. Tourette syndrome.
PharmGKBi PA134944423.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG236179.
HOGENOMi HOG000290667.
HOVERGENi HBG056407.
InParanoidi Q96PX8.
OMAi VICEAPT.
OrthoDBi EOG7W9RT2.
PhylomeDBi Q96PX8.
TreeFami TF351826.

Miscellaneous databases

GeneWikii SLITRK1_(gene).
GenomeRNAii 114798.
NextBioi 79234.
PROi Q96PX8.
SOURCEi Search...

Gene expression databases

Bgeei Q96PX8.
CleanExi HS_SLITRK1.
Genevestigatori Q96PX8.

Family and domain databases

InterProi IPR000483. Cys-rich_flank_reg_C.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view ]
Pfami PF00560. LRR_1. 1 hit.
PF13855. LRR_8. 2 hits.
[Graphical view ]
SMARTi SM00369. LRR_TYP. 2 hits.
SM00082. LRRCT. 2 hits.
SM00013. LRRNT. 1 hit.
[Graphical view ]
PROSITEi PS51450. LRR. 12 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins."
    Nagase T., Kikuno R., Ohara O.
    DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Hippocampus.
  5. "Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue."
    Aruga J., Yokota N., Mikoshiba K.
    Gene 315:87-94(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION, TISSUE SPECIFICITY.
    Tissue: Brain and Brain tumor.
  6. Cited for: FUNCTION, DEVELOPMENTAL STAGE, INVOLVEMENT IN TTM, INVOLVEMENT IN GTS SYNDROME.

Entry informationi

Entry nameiSLIK1_HUMAN
AccessioniPrimary (citable) accession number: Q96PX8
Secondary accession number(s): Q5U5I6, Q96SF9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: March 29, 2004
Last modified: July 9, 2014
This is version 118 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

Keywords - Technical termi

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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