LZTFL1
entrez
54585
canonical
uniprot
Q9NQ48
canonical
ensembl
ENSG00000163818
resolver
ensp
ENSP00000296135
resolver
ensp
ENSP00000416083
resolver
ensp
ENSP00000441784
resolver
ensp
ENSP00000506925
resolver
ensp
ENSP00000674080
resolver
genesymbol
LZTFL1
resolver
hgnc
HGNC:6741
resolver
uniprot
B3KSI9
resolver
uniprot
B4E0K7
resolver
uniprot
Q8TC61
resolver
uniprot
Q9NQ56
resolver
uniprot_entry
LZTL1_HUMAN
resolver
uniprot_sec
B3KSI9
resolver
uniprot_sec
B4E0K7
resolver
uniprot_sec
Q8TC61
resolver
uniprot_sec
Q9NQ56
resolver
amino_acid_sequence
MAELGLNEHHQNEVINYMRFARSKRGLRLKTVDSCFQDLKESRLVEDTFTIDEVSEVLNGLQAVVHSEVESELINTAYTNVLLLRQLFAQAEKWYLKLQTDISELENRELLEQVAEFEKAEITSSNKKPILDVTKPKLAPLNEGGTAELLNKEILRLQEENEKLKSRLKTIEIQATNALDEKSKLEKALQDLQLDQGNQKDFIKAQDLSNLENTVAALKSEFQKTLNDKTENQKSLEENLATAKHDLLRVQEQLHMAEKELEKKFQQTAAYRNMKEILTKKNDQIKDLRKRLAQYEPED
uniprot
proteins
disease_involvement
DISEASE: Bardet-Biedl syndrome 17 (BBS17) [MIM:615994]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:22510444, ECO:0000269|PubMed:23692385}. Note=The disease is caused by variants affecting the gene represented in this entry. Patients carrying LZTFL1 mutations manifest mesoaxial polydactyly, a clinical feature very uncommon for Bardet-Biedl syndrome (PubMed:22510444, PubMed:23692385). Some patients manifest situs inversus (PubMed:22510444). {ECO:0000269|PubMed:22510444}.
uniprot
proteins
function
FUNCTION: Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function. {ECO:0000269|PubMed:20233871, ECO:0000269|PubMed:22072986, ECO:0000269|PubMed:22510444}.
uniprot
proteins
mass_dalton
34592
uniprot
proteins
mutagenesis
MUTAGEN 24..25; /note="KR->AS: Increases BBS4, BBS8 and BBS9 ciliary localization."; /evidence="ECO:0000269|PubMed:22072986
uniprot
proteins
protein_family
LZTFL1 family
uniprot
proteins
pubmed
11352561
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20233871
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22072986
uniprot
proteins
pubmed
22510444
uniprot
proteins
pubmed
23692385
uniprot
proteins
sequence_length
299
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20233871, ECO:0000269|PubMed:22072986}.
uniprot
proteins