LZTFL1 - leucine zipper transcription factor like 1 Gene

Also Known as BBS17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54585

About LZTFL1

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:45,823,316-45,915,724 (from NCBI)

This gene has 18 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 18.3), thyroid (RPKM 11.9) and 24 other tissues.

Summary

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 membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin Cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020]

LZTFL1 Products (14)

mRNA	Protein	Name
NM_001276378.2	NP_001263307.1	leucine zipper transcription factor-like protein 1 isoform 2
NM_001276379.2	NP_001263308.1	leucine zipper transcription factor-like protein 1 isoform 3
NM_001386451.1	NP_001373380.1	leucine zipper transcription factor-like protein 1 isoform 2
NM_001386452.1	NP_001373381.1	leucine zipper transcription factor-like protein 1 isoform 4
NM_001405920.1	NP_001392849.1	leucine zipper transcription factor-like protein 1 isoform 5
NM_001405921.1	NP_001392850.1	leucine zipper transcription factor-like protein 1 isoform 6
NM_001405922.1	NP_001392851.1	leucine zipper transcription factor-like protein 1 isoform 2
NM_001405923.1	NP_001392852.1	leucine zipper transcription factor-like protein 1 isoform 2
NM_001405924.1	NP_001392853.1	leucine zipper transcription factor-like protein 1 isoform 7
NM_001405925.1	NP_001392854.1	leucine zipper transcription factor-like protein 1 isoform 8
NM_001405926.1	NP_001392855.1	leucine zipper transcription factor-like protein 1 isoform 9
NM_001405927.1	NP_001392856.1	leucine zipper transcription factor-like protein 1 isoform 9
NM_001405928.1	NP_001392857.1	leucine zipper transcription factor-like protein 1 isoform 9
NM_020347.4	NP_065080.1	leucine zipper transcription factor-like protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	22072986	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22072986	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	24550735	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in negative regulation of protein localization to ciliary membrane	IMP IMP: Inferred from mutant phenotype	22072986	GOA
involved in negative regulation of protein localization to cilium	IMP IMP: Inferred from mutant phenotype	22072986	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LZTFL1 Protein Structure

Leu_zip

0
100
200
299 a.a.

Protein Preferred Names	Protein Names
leucine zipper transcription factor-like protein 1

LZTFL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	LZTFL1	Q9NQ48	LZTFL1	Homo sapiens	Q9NQ48	SLC	27107012
Intra	LZTFL1	Q9NQ48	LZTFL1	Homo sapiens	Q9NQ48	Y2H Array	25416956
Intra	LZTFL1	Q9NQ48	LZTFL1	Homo sapiens	Q9NQ48	BFG-2H	27107012
Intra	LZTFL1	Q9NQ48	LZTFL1	Homo sapiens	Q9NQ48	Crosslink	22072986
Intra	LZTFL1	Q9NQ48	BBS9	Homo sapiens	Q3SYG4	Anti Tag CoIP	33961781
Intra	LZTFL1	Q9NQ48	BBS9	Homo sapiens	Q3SYG4	TAP	27173435
Intra	LZTFL1	Q9NQ48	BBS9	Homo sapiens	Q3SYG4	Anti Tag CoIP	22072986
Intra	LZTFL1	Q9NQ48	LZTFL1	Homo sapiens	Q9NQ48	Anti Tag CoIP	22072986
Intra	LZTFL1	Q9NQ48	LZTFL1	Homo sapiens	Q9NQ48	Validated Y2H	27107012
Intra	LZTFL1	Q9NQ48	BBS9	Homo sapiens	Q3SYG4	PLA	22072986
Intra	LZTFL1	Q9NQ48	BBS9	Homo sapiens	Q3SYG4	TAP	22072986
Intra	LZTFL1	Q9NQ48	LZTFL1	Homo sapiens	Q9NQ48	TAP	22072986
Intra	LZTFL1	Q9NQ48	BBS9	Homo sapiens	Q3SYG4	IF	22072986
Intra	LZTFL1	Q9NQ48	BBS9	Homo sapiens	Q3SYG4	Anti Tag CoIP	28514442
Intra	LZTFL1	Q9NQ48	SDCBP	Homo sapiens	O00560	Y2H Array	25416956
Intra	LZTFL1	Q9NQ48	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	31515488
Intra	LZTFL1	Q9NQ48	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	25416956
Intra	LZTFL1	Q9NQ48	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

LZTFL1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P89723	LZTFL1 Antibody (YA9067)	WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA	human, mouse, rat

Related Diseases

Diseases	Alias
Bardet-Biedl Syndrome 17	BBS17 Bardet-Biedl Syndrome, Type 17
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Bardet-Biedl Syndrome 19	BBS19 Bardet-Biedl Syndrome, Type 19
Bardet-Biedl Syndrome 18	BBS18 Bardet-Biedl Syndrome, Type 18
Combined Cellular And Humoral Immune Defects With Granulomas	Combined Immunodeficiency With Skin Granulomas CCHIDG Cid Due To Rag 1/2 Deficiency Combined Immunodeficiency Due To Rag 1/2 Deficiency Combined Immunodeficiency With Granulomatosis CHIDG Immune Defects, Combined Cellular And Humoral With Granulomas
Bardet-Biedl Syndrome 11	BBS11 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 11
Photokeratitis
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Cataract 44	CTRCT44 Total Early-Onset Cataract Cataract 44 And Hypotrichosis Cataract And Hypotrichosis Cataract, Type 44
Bardet-Biedl Syndrome 1	BBS1 Bardet-Biedl Syndrome 1, Modifier Of Bardet-Biedl Syndrome BBS Bardet-Biedl Syndrome, Type 1 Laurence-Moon-Bardet-Biedl Syndrome
Iminoglycinuria	Iminoglycinuria, Digenic IG
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS07932	LZTFL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LZTFL1	RGD	RGD:1306628
Felis catus	LZTFL1	VGNC	VGNC:68115
Bos taurus	LZTFL1	VGNC	VGNC:31119
Macaca mulatta	LZTFL1	VGNC	VGNC:74467
Mus musculus	LZTFL1	MGD	MGI:1934860
Canis familiaris	LZTFL1	VGNC	VGNC:103690
Others	LZTFL1	NCBI