SLITRK1
entrez
114798
canonical
uniprot
Q96PX8
canonical
ensembl
ENSG00000178235
resolver
ensp
ENSP00000366288
resolver
ensp
ENSP00000501349
resolver
enst
ENST00000377084
resolver
enst
ENST00000674365
resolver
genesymbol
SLITRK1
resolver
genesymbol_syn
KIAA1910
resolver
genesymbol_syn
LRRC12
resolver
hgnc
HGNC:20297
resolver
uniprot
Q5U5I6
resolver
uniprot
Q96SF9
resolver
uniprot_entry
SLIK1_HUMAN
resolver
uniprot_sec
Q5U5I6
resolver
uniprot_sec
Q96SF9
resolver
amino_acid_sequence
MLLWILLLETSLCFAAGNVTGDVCKEKICSCNEIEGDLHVDCEKKGFTSLQRFTAPTSQFYHLFLHGNSLTRLFPNEFANFYNAVSLHMENNGLHEIVPGAFLGLQLVKRLHINNNKIKSFRKQTFLGLDDLEYLQADFNLLRDIDPGAFQDLNKLEVLILNDNLISTLPANVFQYVPITHLDLRGNRLKTLPYEEVLEQIPGIAEILLEDNPWDCTCDLLSLKEWLENIPKNALIGRVVCEAPTRLQGKDLNETTEQDLCPLKNRVDSSLPAPPAQEETFAPGPLPTPFKTNGQEDHATPGSAPNGGTKIPGNWQIKIRPTAAIATGSSRNKPLANSLPCPGGCSCDHIPGSGLKMNCNNRNVSSLADLKPKLSNVQELFLRDNKIHSIRKSHFVDYKNLILLDLGNNNIATVENNTFKNLLDLRWLYMDSNYLDTLSREKFAGLQNLEYLNVEYNAIQLILPGTFNAMPKLRILILNNNLLRSLPVDVFAGVSLSKLSLHNNYFMYLPVAGVLDQLTSIIQIDLHGNPWECSCTIVPFKQWAERLGSEVLMSDLKCETPVNFFRKDFMLLSNDEICPQLYARISPTLTSHSKNSTGLAETGTHSNSYLDTSRVSISVLVPGLLLVFVTSAFTVVGMLVFILRNRKRSKRRDANSSASEINSLQTVCDSSYWHNGPYNADGAHRVYDCGSHSLSD
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:16224024, ECO:0000269|PubMed:17003809, ECO:0000269|PubMed:27812321}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: It is involved in synaptogenesis and promotes excitatory synapse differentiation (PubMed:27273464, PubMed:27812321). Enhances neuronal dendrite outgrowth (PubMed:16224024, PubMed:19640509). {ECO:0000269|PubMed:16224024, ECO:0000269|PubMed:19640509, ECO:0000269|PubMed:27273464, ECO:0000269|PubMed:27812321}.
uniprot
proteins
mass_dalton
77735
uniprot
proteins
mutagenesis
MUTAGEN 85; /note="V->M: Does not affect surface expression."; /evidence="ECO:0000269|PubMed:27812321"; MUTAGEN 695; /note="S->A: Loss of phosphorylation. Not able to promote neurite outgrowth."; /evidence="ECO:0000269|PubMed:19640509"; MUTAGEN 695; /note="S->E: Able to promote neurite outgrowth as the wild-type."; /evidence="ECO:0000269|PubMed:19640509
uniprot
proteins
post_translational_modification
PTM: 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. {ECO:0000269|PubMed:19640509}.
uniprot
proteins
protein_family
SLITRK family
uniprot
proteins
pubmed
11572484
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14557068
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16224024
uniprot
proteins
pubmed
17003809
uniprot
proteins
pubmed
19640509
uniprot
proteins
pubmed
23990902
uniprot
proteins
pubmed
27273464
uniprot
proteins
pubmed
27812321
uniprot
proteins
sequence_length
696
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Secreted {ECO:0000269|PubMed:19640509}. Synapse {ECO:0000250|UniProtKB:Q810C1}.
uniprot
proteins
transmembrane_region
TRANSMEM 623..643; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins