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

LZTFL1 - leucine zipper transcription factor like 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：亮氨酸拉链转录因子 1

种属: Homo sapiens

同用名: BBS17

基因 ID: 54585 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种普遍表达的蛋白质，该蛋白质定位于细胞质。该蛋白与 Bardet-Biedl 综合征 (BBS) 蛋白相互作用，并通过与 BBS 蛋白复合物的相互作用调节向睫状膜的蛋白运输。该基因的无义突变会导致一种 Bardet-Biedl 综合症；一种纤毛病，其部分特征是多指畸形、肥胖、认知障碍、性腺机能减退和肾衰竭。该基因也可能起到肿瘤抑制因子的作用；可能通过与 E-钙粘蛋白和肌动蛋白细胞骨架相互作用，从而调节上皮细胞向间充质细胞的转变。[RefSeq 提供，2020 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
22072986 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22072986 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
24550735 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of protein localization to ciliary membrane IMP
IMP: 通过突变表型推断
22072986 GOA
involved in negative regulation of protein localization to cilium IMP
IMP: 通过突变表型推断
22072986 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

LZTFL1 蛋白结构

Leu_zip

Leu_zip: Leucine zipper (20 - 293)

  • 0
  • 100
  • 200
  • 299 a.a.
蛋白主名 其他名称

leucine zipper transcription factor-like protein 1

LZTFL1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07932 LZTFL1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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