2. Gene
  3. LZTFL1 - leucine zipper transcription factor like 1 Gene

LZTFL1 - leucine zipper transcription factor like 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BBS17

Gene ID: 54585 | Gene type: protein coding

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 Reference 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 Reference 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

Leu_zip: Leucine zipper (20 - 293)

  • 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 Reference
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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07932 LZTFL1 Human Pre-designed siRNA Set A Pre-designed Sets / 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