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Q96PX8 (SLIK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
SLIT and NTRK-like protein 1
Alternative name(s):
Leucine-rich repeat-containing protein 12
Gene names
Name:SLITRK1
Synonyms:KIAA1910, LRRC12
ORF Names:UNQ233/PRO266
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length696 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Enhances neuronal dendrite outgrowth. Ref.6

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Tissue specificity

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. Ref.5

Developmental stage

At 20 weeks of gestation, expressed in multiple brain regions, including the developing neo-cortical plate, subplate zone, striatum, globus pallidus, thalamus and subthalamus. Ref.6

Involvement in disease

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. Ref.6

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. Ref.6

Sequence similarities

Belongs to the SLITRK family.

Contains 12 LRR (leucine-rich) repeats.

Contains 2 LRRCT domains.

Contains 2 LRRNT domains.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1717 Potential
Chain18 – 696679SLIT and NTRK-like protein 1
PRO_0000032673

Regions

Topological domain18 – 622605Extracellular Potential
Transmembrane623 – 64321Helical; Potential
Topological domain644 – 69653Cytoplasmic Potential
Domain18 – 5740LRRNT 1
Repeat59 – 8022LRR 1
Repeat83 – 10422LRR 2
Repeat106 – 12823LRR 3
Repeat131 – 15222LRR 4
Repeat155 – 17622LRR 5
Repeat178 – 19922LRR 6
Domain212 – 26352LRRCT 1
Domain332 – 37342LRRNT 2
Repeat376 – 39722LRR 7
Repeat400 – 42122LRR 8
Repeat424 – 44522LRR 9
Repeat448 – 46922LRR 10
Repeat472 – 49322LRR 11
Repeat495 – 51622LRR 12
Domain529 – 58052LRRCT 2

Natural variations

Natural variant5521L → M.
Corresponds to variant rs7491932 [ dbSNP | Ensembl ].
VAR_027755

Experimental info

Sequence conflict4181T → S in AAH51738. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q96PX8 [UniParc].

Last modified March 29, 2004. Version 2.
Checksum: E0E9ACEDE0F0ACEC

FASTA69677,735
        10         20         30         40         50         60 
MLLWILLLET SLCFAAGNVT GDVCKEKICS CNEIEGDLHV DCEKKGFTSL QRFTAPTSQF 

        70         80         90        100        110        120 
YHLFLHGNSL TRLFPNEFAN FYNAVSLHME NNGLHEIVPG AFLGLQLVKR LHINNNKIKS 

       130        140        150        160        170        180 
FRKQTFLGLD DLEYLQADFN LLRDIDPGAF QDLNKLEVLI LNDNLISTLP ANVFQYVPIT 

       190        200        210        220        230        240 
HLDLRGNRLK TLPYEEVLEQ IPGIAEILLE DNPWDCTCDL LSLKEWLENI PKNALIGRVV 

       250        260        270        280        290        300 
CEAPTRLQGK DLNETTEQDL CPLKNRVDSS LPAPPAQEET FAPGPLPTPF KTNGQEDHAT 

       310        320        330        340        350        360 
PGSAPNGGTK IPGNWQIKIR PTAAIATGSS RNKPLANSLP CPGGCSCDHI PGSGLKMNCN 

       370        380        390        400        410        420 
NRNVSSLADL KPKLSNVQEL FLRDNKIHSI RKSHFVDYKN LILLDLGNNN IATVENNTFK 

       430        440        450        460        470        480 
NLLDLRWLYM DSNYLDTLSR EKFAGLQNLE YLNVEYNAIQ LILPGTFNAM PKLRILILNN 

       490        500        510        520        530        540 
NLLRSLPVDV FAGVSLSKLS LHNNYFMYLP VAGVLDQLTS IIQIDLHGNP WECSCTIVPF 

       550        560        570        580        590        600 
KQWAERLGSE VLMSDLKCET PVNFFRKDFM LLSNDEICPQ LYARISPTLT SHSKNSTGLA 

       610        620        630        640        650        660 
ETGTHSNSYL DTSRVSISVL VPGLLLVFVT SAFTVVGMLV FILRNRKRSK RRDANSSASE 

       670        680        690 
INSLQTVCDS SYWHNGPYNA DGAHRVYDCG SHSLSD 

« Hide

References

« Hide 'large scale' references
[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]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Sequence variants in SLITRK1 are associated with Tourette's syndrome."
Abelson J.F., Kwan K.Y., O'Roak B.J., Baek D.Y., Stillman A.A., Morgan T.M., Mathews C.A., Pauls D.L., Rasin M.-R., Gunel M., Davis N.R., Ercan-Sencicek A.G., Guez D.H., Spertus J.A., Leckman J.F., Dure L.S. IV, Kurlan R., Singer H.S. expand/collapse author list , Gilbert D.L., Farhi A., Louvi A., Lifton R.P., Sestan N., State M.W.
Science 310:317-320(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, DEVELOPMENTAL STAGE, INVOLVEMENT IN TTM, INVOLVEMENT IN GTS SYNDROME.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB067497 mRNA. Translation: BAB67803.1. Different initiation.
AY358289 mRNA. Translation: AAQ88656.1.
AL355481 Genomic DNA. Translation: CAC37488.1.
BC051738 mRNA. Translation: AAH51738.1.
RefSeqNP_001268432.1. NM_001281503.1.
NP_443142.1. NM_052910.2.
UniGeneHs.415478.
Hs.627477.
Hs.694617.

3D structure databases

ProteinModelPortalQ96PX8.
SMRQ96PX8. Positions 29-260, 334-552.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ96PX8. 1 interaction.
MINTMINT-7997455.
STRING9606.ENSP00000366288.

PTM databases

PhosphoSiteQ96PX8.

Polymorphism databases

DMDM46396997.

Proteomic databases

PaxDbQ96PX8.
PeptideAtlasQ96PX8.
PRIDEQ96PX8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000377084; ENSP00000366288; ENSG00000178235.
GeneID114798.
KEGGhsa:114798.
UCSCuc001vlk.3. human.

Organism-specific databases

CTD114798.
GeneCardsGC13M084451.
HGNCHGNC:20297. SLITRK1.
HPAHPA012414.
MIM137580. phenotype.
609678. gene.
613229. phenotype.
neXtProtNX_Q96PX8.
Orphanet856. Tourette syndrome.
PharmGKBPA134944423.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG236179.
HOGENOMHOG000290667.
HOVERGENHBG056407.
InParanoidQ96PX8.
OMANGLPCPG.
OrthoDBEOG7W9RT2.
PhylomeDBQ96PX8.
TreeFamTF351826.

Gene expression databases

BgeeQ96PX8.
CleanExHS_SLITRK1.
GenevestigatorQ96PX8.

Family and domain databases

InterProIPR000483. Cys-rich_flank_reg_C.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamPF00560. LRR_1. 1 hit.
[Graphical view]
SMARTSM00369. LRR_TYP. 2 hits.
SM00082. LRRCT. 2 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
PROSITEPS51450. LRR. 12 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSLITRK1_(gene).
GenomeRNAi114798.
NextBio79234.
PROQ96PX8.
SOURCESearch...

Entry information

Entry nameSLIK1_HUMAN
AccessionPrimary (citable) accession number: Q96PX8
Secondary accession number(s): Q5U5I6, Q96SF9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: March 29, 2004
Last modified: March 19, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM