InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LZTFL1

Summary

InnateDB Protein

IDBP-29781.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LZTFL1

Protein Name

leucine zipper transcription factor-like 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000296135

InnateDB Gene

IDBG-29779 (LZTFL1)

Protein Structure

UniProt Annotation

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:0000269PubMed:20233871, ECO:0000269PubMed:22072986, ECO:0000269PubMed:22510444}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:20233871, ECO:0000269PubMed:22072986}.

Disease Associations

Bardet-Biedl syndrome 17 (BBS17) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. 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:0000269PubMed:22510444, ECO:0000269PubMed:23692385}. Note=The disease is caused by mutations 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 and PubMed:23692385). Some patients manifest situs inversus (PubMed:22510444). {ECO:0000269PubMed:22510444}.

Tissue Specificity

Expressed in prostate, ovary, stomach, pancreas, esophagus, breast, liver, bladder, kidney, thyroid, colon and lung (at protein level). Down-regulated in multiple primary tumors (at protein level). Detected in testis, heart, skeletal muscle, thymus, spleen, small intestine, and peripheral blood leukocytes. {ECO:0000269PubMed:11352561, ECO:0000269PubMed:20233871}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.