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SLITRK1 SLIT and NTRK-like family, member 1 [ Homo sapiens (human) ]

Gene ID: 114798, updated on 16-Apr-2014
Official Symbol
SLITRK1provided by HGNC
Official Full Name
SLIT and NTRK-like family, member 1provided by HGNC
Primary source
HGNC:20297
Locus tag
UNQ233/PRO266
See related
Ensembl:ENSG00000178235; HPRD:18063; MIM:609678; Vega:OTTHUMG00000017149
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TTM; LRRC12
Summary
This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Location :
13q31.1
Sequence :
Chromosome: 13; NC_000013.11 (83877205..83882393, complement)
See SLITRK1 in Epigenomics, MapViewer

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene glycogenin 1 pseudogene 2 Neighboring gene RNA, U6 small nuclear 67, pseudogene Neighboring gene VENT homeobox pseudogene 2 Neighboring gene ubiquitin-conjugating enzyme E2D 3 pseudogene 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Tourette Syndrome
MedGen: C0040517 OMIM: 137580 GeneReviews: Tourette Disorder Overview
Compare labs
Trichotillomania
MedGen: CN035643 OMIM: 613229 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of irritable vs. elated mania suggests genetic differences between clinical subtypes of bipolar disorder.
NHGRI GWA Catalog
Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
NHGRI GWA Catalog

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adult behavior IEA
Inferred from Electronic Annotation
more info
 
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
homeostatic process IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
SLIT and NTRK-like protein 1
Names
SLIT and NTRK-like protein 1
slit and trk like gene 1
leucine-rich repeat-containing protein 12

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016748.1 RefSeqGene

    Range
    5001..10189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001281503.1NP_001268432.1  SLIT and NTRK-like protein 1 precursor

    See proteins identical to NP_001268432.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB067497, AI500170, DC334447, HY157227
    Consensus CDS
    CCDS9464.1
    UniProtKB/Swiss-Prot
    Q96PX8
    Conserved Domains (2) summary
    smart00082
    Location:212250
    Blast Score: 89
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:132189
    Blast Score: 139
    LRR_8; Leucine rich repeat
  2. NM_052910.2NP_443142.1  SLIT and NTRK-like protein 1 precursor

    See proteins identical to NP_443142.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA677641, AB067497, AI500170, DA240278
    Consensus CDS
    CCDS9464.1
    UniProtKB/Swiss-Prot
    Q96PX8
    Related
    ENSP00000366288, OTTHUMP00000018546, ENST00000377084, OTTHUMT00000045396
    Conserved Domains (2) summary
    smart00082
    Location:212250
    Blast Score: 89
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:132189
    Blast Score: 139
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38 Primary Assembly

    Range
    83877205..83882393, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000145.1 Alternate HuRef

    Range
    65151246..65156419, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    84418864..84424052, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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