• Gene id: 54585

Gene Summary

• Gene Symbol: LZTFL1   Gene   UCSC   Ensembl
• Aliases: BBS17
• Gene name: leucine zipper transcription factor like 1
• Alternate names: leucine zipper transcription factor-like protein 1,
• Gene location: 3p21.31 (45916036: 45823315)     Exons: 15     NC_000003.12
• Gene summary(Entrez): This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary memb
• OMIM: 606568

Protein Summary

• Protein general information: Q9NQ48  
  • Name: Leucine zipper transcription factor like protein 1
  • Length: 299  
  • Mass: 34592
  • 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 m
• Sequence:

  MAELGLNEHHQNEVINYMRFARSKRGLRLKTVDSCFQDLKESRLVEDTFTIDEVSEVLNGLQAVVHSEVESELIN
  TAYTNVLLLRQLFAQAEKWYLKLQTDISELENRELLEQVAEFEKAEITSSNKKPILDVTKPKLAPLNEGGTAELL
  NKEILRLQEENEKLKSRLKTIEIQATNALDEKSKLEKALQDLQLDQGNQKDFIKAQDLSNLENTVAALKSEFQKT
  LNDKTENQKSLEENLATAKHDLLRVQEQLHMAEKELEKKFQQTAAYRNMKEILTKKNDQIKDLRKRLAQYEPED

• Structural information:
  • Interpro: IPR026157  
  • STRING: ENSP00000296135
• Other Databases: GeneCards:  LZTFL1  Malacards:  LZTFL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:1903565	negative regulation of protein localization to cilium	IBA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1903565	negative regulation of protein localization to cilium	IMP	biological process
GO:1903568	negative regulation of protein localization to ciliary membrane	IMP	biological process

Diseases

Associated diseases	References
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	KEGG:H00418
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881