Q96PX8 (SLIK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	696 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 psychologic 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.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Leucine-rich repeat Repeat Signal Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axonogenesis Inferred from electronic annotation. Source: Compara
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 17	17	Potential
	Chain	18 – 696	679	SLIT and NTRK-like protein 1		PRO_0000032673
Regions
	Topological domain	18 – 622	605	Extracellular Potential
	Transmembrane	623 – 643	21	Helical; Potential
	Topological domain	644 – 696	53	Cytoplasmic Potential
	Domain	18 – 57	40	LRRNT 1
	Repeat	59 – 80	22	LRR 1
	Repeat	83 – 104	22	LRR 2
	Repeat	106 – 128	23	LRR 3
	Repeat	131 – 152	22	LRR 4
	Repeat	155 – 176	22	LRR 5
	Repeat	178 – 199	22	LRR 6
	Domain	212 – 263	52	LRRCT 1
	Domain	332 – 373	42	LRRNT 2
	Repeat	376 – 397	22	LRR 7
	Repeat	400 – 421	22	LRR 8
	Repeat	424 – 445	22	LRR 9
	Repeat	448 – 469	22	LRR 10
	Repeat	472 – 493	22	LRR 11
	Repeat	495 – 516	22	LRR 12
	Domain	529 – 580	52	LRRCT 2
Natural variations
	Natural variant	552	1	L → M. Corresponds to variant rs7491932 [ dbSNP | Ensembl ].		VAR_027755
Experimental info
	Sequence conflict	418	1	T → S in AAH51738. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q96PX8 [UniParc]. Last modified March 29, 2004. Version 2. Checksum: E0E9ACEDE0F0ACEC	FASTA	696	77,735
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00102543.
RefSeq	NP_443142.1. NM_052910.1.
UniGene	Hs.415478.
3D structure databases
ProteinModelPortal	Q96PX8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000366288.
PTM databases
PhosphoSite	Q96PX8.
Polymorphism databases
DMDM	46396997.
Proteomic databases
PaxDb	Q96PX8.
PeptideAtlas	Q96PX8.
PRIDE	Q96PX8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000377084; ENSP00000366288; ENSG00000178235.
GeneID	114798.
KEGG	hsa:114798.
UCSC	uc001vlk.3. human.
Organism-specific databases
CTD	114798.
GeneCards	GC13M084451.
HGNC	HGNC:20297. SLITRK1.
HPA	HPA012414.
MIM	137580. phenotype. 609678. gene. 613229. phenotype.
neXtProt	NX_Q96PX8.
Orphanet	856. Tourette syndrome.
PharmGKB	PA134944423.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG236179.
HOGENOM	HOG000290667.
HOVERGEN	HBG056407.
InParanoid	Q96PX8.
OMA	NGLPCPG.
OrthoDB	EOG428211.
PhylomeDB	Q96PX8.
Gene expression databases
Bgee	Q96PX8.
CleanEx	HS_SLITRK1.
Genevestigator	Q96PX8.
GermOnline	ENSG00000178235. Homo sapiens.
Family and domain databases
InterPro	IPR000483. Cys-rich_flank_reg_C. IPR001611. Leu-rich_rpt. IPR003591. Leu-rich_rpt_typical-subtyp. IPR000372. LRR-contain_N. [Graphical view]
Pfam	PF00560. LRR_1. 1 hit. [Graphical view]
SMART	SM00369. LRR_TYP. 2 hits. SM00082. LRRCT. 2 hits. SM00013. LRRNT. 1 hit. [Graphical view]
PROSITE	PS51450. LRR. 12 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	114798.
NextBio	79234.
SOURCE	Search...

Entry information

Entry name

SLIK1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 106 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.