2. Gene
  3. FANCL - FA complementation group L Gene

FANCL - FA complementation group L Gene

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

中文名称：FA 互补组 L

种属: Homo sapiens

同用名: POG; PHF9; FAAP43

基因 ID: 55120 | 基因类型: protein coding

关于 FANCL

Cytogenetic location: 2p16.1 Genomic coordinates (GRCh38): 2:58,159,243-58,241,380 (from NCBI)

This gene has 156 transcripts (splice variants), 204 orthologues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 16.9), testis (RPKM 12.0) and 25 other tissues.

功能概要

该基因编码一种泛素连接酶，它是范可尼贫血互补组 (FANC) 的成员。这个组的成员通过组装成一个共同的核蛋白复合物而不是序列相似性来相关。该基因编码互补组 L 的蛋白质，介导 FANCD2 和 FANCI 的单泛素化。范可尼贫血是一种遗传异质性隐性疾病，其特征是细胞遗传学不稳定、对 DNA 交联剂过敏、染色体断裂增加和 DNA 修复缺陷。可变剪接导致多个转录本变体。[RefSeq 提供，2018 年 5 月]

This gene encodes a ubiquitin Ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]

FANCL 基因产物(4)

mRNA Protein Name
NM_001114636.1 NP_001108108.1 E3 ubiquitin-protein ligase FANCL isoform 1
NM_001374615.1 NP_001361544.1 E3 ubiquitin-protein ligase FANCL isoform 3
NM_001410792.1 NP_001397721.1 E3 ubiquitin-protein ligase FANCL isoform 4
NM_018062.4 NP_060532.2 E3 ubiquitin-protein ligase FANCL isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
24389026 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
19589784 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
16916645 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
16916645 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IMP
IMP: 通过突变表型推断
16916645 GOA
involved in DNA repair IMP
IMP: 通过突变表型推断
16916645 GOA
involved in protein monoubiquitination IDA
IDA: 通过直接分析推断
16916645 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Fanconi anaemia nuclear complex IDA
IDA: 通过直接分析推断
20347428 GOA
located in chromatin IDA
IDA: 通过直接分析推断
22343915 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

FANCL 蛋白结构

WD-3

WD-3: WD-repeat region (8 - 295)

FANCL_C

FANCL_C: FANCL C-terminal domain (304 - 371)

  • 0
  • 100
  • 200
  • 300
  • 375 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase FANCL

Fanconi anemia complementation group L

FANCL 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
种属内
FANCL Q9NW38 METTL15 Homo sapiens A6NJ78-4
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 METTL15 Homo sapiens A6NJ78-4
Y2H Array
32296183
种属内
FANCL Q9NW38 DOCK8 Homo sapiens Q8NF50-2
Y2H Array
25416956
种属内
FANCL Q9NW38 CADPS Homo sapiens A2RRN7
Y2H Array
32296183
种属内
FANCL Q9NW38 CADPS Homo sapiens A2RRN7
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 RIMBP3 Homo sapiens Q9UFD9
Validated Y2H
25416956
种属内
FANCL Q9NW38 RIMBP3 Homo sapiens Q9UFD9
Y2H Array
25416956
种属内
FANCL Q9NW38 ZNF774 Homo sapiens Q6NX45
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 ZNF774 Homo sapiens Q6NX45
Y2H Array
32296183
种属内
FANCL Q9NW38 KRTAP11-1 Homo sapiens Q8IUC1
Y2H Array
32296183
种属内
FANCL Q9NW38 KRTAP11-1 Homo sapiens Q8IUC1
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 KRTAP13-2 Homo sapiens Q52LG2
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 KRTAP13-2 Homo sapiens Q52LG2
Y2H Array
32296183
种属内
FANCL Q9NW38 ACTMAP Homo sapiens Q5BKX5-3
Y2H Array
32296183
种属内
FANCL Q9NW38 ACTMAP Homo sapiens Q5BKX5-3
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 UFSP1 Homo sapiens Q6NVU6
Y2H Array
32296183
种属内
FANCL Q9NW38 UFSP1 Homo sapiens Q6NVU6
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 CYB5R2 Homo sapiens Q6BCY4-2
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 CYB5R2 Homo sapiens Q6BCY4-2
Y2H Array
32296183
种属内
FANCL Q9NW38 CERCAM Homo sapiens Q5T4B2
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 CERCAM Homo sapiens Q5T4B2
Y2H Array
32296183
种属内
FANCL Q9NW38 ZNF224 Homo sapiens Q9NZL3
Validated Y2H
32296183
种属内
FANCL Q9NW38 ZNF224 Homo sapiens Q9NZL3
Y2H Array
32296183
种属内
FANCL Q9NW38 ZNF224 Homo sapiens Q9NZL3
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 KRTAP19-6 Homo sapiens Q3LI70
Y2H Array
32296183
种属内
FANCL Q9NW38 KRTAP19-6 Homo sapiens Q3LI70
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 HOXD4 Homo sapiens P09016
Y2H Array
32296183
种属内
FANCL Q9NW38 HOXD4 Homo sapiens P09016
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 KIFC3 Homo sapiens Q9BVG8-5
Y2H Array
32296183
种属内
FANCL Q9NW38 KIFC3 Homo sapiens Q9BVG8-5
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 ANKRD55 Homo sapiens Q3KP44
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 ANKRD55 Homo sapiens Q3KP44
Y2H Array
32296183
种属内
FANCL Q9NW38 SRGAP3 Homo sapiens Q8IXS7
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 SRGAP3 Homo sapiens Q8IXS7
Y2H Array
32296183
种属内
FANCL Q9NW38 KIFC3 Homo sapiens Q9BVG8
Y2H Array
25416956
种属内
FANCL Q9NW38 SSX2IP Homo sapiens Q9Y2D8
Y2H Array
25416956
种属内
FANCL Q9NW38 SSX2IP Homo sapiens Q9Y2D8
Validated Y2H
25416956
种属内
FANCL Q9NW38 RBM45 Homo sapiens Q8IUH3
Y2H Array
25416956
种属内
FANCL Q9NW38 RBM45 Homo sapiens Q8IUH3
Validated Y2H
25416956
种属内
FANCL Q9NW38 EIF4ENIF1 Homo sapiens Q9NRA8
Validated Y2H
25416956
种属内
FANCL Q9NW38 EIF4ENIF1 Homo sapiens Q9NRA8
Y2H Prey Pooling
25416956
种属内
FANCL Q9NW38 EIF4ENIF1 Homo sapiens Q9NRA8
Y2H Array
25416956
种属内
FANCL Q9NW38 ARHGEF9 Homo sapiens O43307
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 ARHGEF9 Homo sapiens O43307
Y2H Array
32296183
种属内
FANCL Q9NW38 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
种属内
FANCL Q9NW38 RNF11 Homo sapiens Q9Y3C5
Y2H Array
32296183
种属内
FANCL Q9NW38 RNF11 Homo sapiens Q9Y3C5
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 RNF11 Homo sapiens Q9Y3C5
Validated Y2H
32296183
种属内
FANCL Q9NW38 PSMB3 Homo sapiens P49720
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 PSMB3 Homo sapiens P49720
Y2H Array
32296183
种属内
FANCL Q9NW38 ID2 Homo sapiens Q02363
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 ID2 Homo sapiens Q02363
Y2H Array
32296183
种属内
FANCL Q9NW38 ANTKMT Homo sapiens Q9BQD7
Y2H Array
32296183
种属内
FANCL Q9NW38 ANTKMT Homo sapiens Q9BQD7
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 TFCP2 Homo sapiens Q12800
Validated Y2H
25416956
种属内
FANCL Q9NW38 LZTS2 Homo sapiens Q9BRK4
Validated Y2H
25416956
种属内
FANCL Q9NW38 CHCHD3 Homo sapiens Q9NX63
Y2H Array
25416956
种属内
FANCL Q9NW38 CHCHD3 Homo sapiens Q9NX63
Y2H Prey Pooling
25416956
种属内
FANCL Q9NW38 CHCHD3 Homo sapiens Q9NX63
Validated Y2H
32296183
种属内
FANCL Q9NW38 CHCHD3 Homo sapiens Q9NX63
Validated Y2H
25416956
种属内
FANCL Q9NW38 CHCHD3 Homo sapiens Q9NX63
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 CHCHD3 Homo sapiens Q9NX63
Y2H Array
32296183
种属内
FANCL Q9NW38 HDHD3 Homo sapiens Q9BSH5
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 HDHD3 Homo sapiens Q9BSH5
Y2H Array
32296183
种属内
FANCL Q9NW38 ZNF581 Homo sapiens Q9P0T4
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 ZNF581 Homo sapiens Q9P0T4
Validated Y2H
32296183
种属内
FANCL Q9NW38 ZNF581 Homo sapiens Q9P0T4
Y2H Array
32296183
种属内
FANCL Q9NW38 SNF8 Homo sapiens Q96H20
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 SNF8 Homo sapiens Q96H20
Y2H Array
32296183
种属内
FANCL Q9NW38 GRN Homo sapiens P28799
Validated Y2H
25416956
种属内
FANCL Q9NW38 GRN Homo sapiens P28799
Y2H Array
25416956
种属内
FANCL Q9NW38 GRN Homo sapiens P28799
Y2H Prey Pooling
25416956
种属内
FANCL Q9NW38 DDAH2 Homo sapiens O95865
Y2H Array
32296183
种属内
FANCL Q9NW38 DDAH2 Homo sapiens O95865
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 CTDSP1 Homo sapiens Q9GZU7
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 CTDSP1 Homo sapiens Q9GZU7
Y2H Array
32296183
种属内
FANCL Q9NW38 ZMAT5 Homo sapiens Q9UDW3
Y2H Array
32296183
种属内
FANCL Q9NW38 ZMAT5 Homo sapiens Q9UDW3
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 ZMAT5 Homo sapiens Q9UDW3
Validated Y2H
32296183
种属内
FANCL Q9NW38 IHO1 Homo sapiens Q8IYA8
Y2H Prey Pooling
25416956
种属内
FANCL Q9NW38 GATA1 Homo sapiens P15976-2
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 GATA1 Homo sapiens P15976-2
Y2H Array
32296183
种属内
FANCL Q9NW38 TTC23 Homo sapiens Q5W5X9-3
Y2H Prey Pooling
32296183
种属内
FANCL Q9NW38 TTC23 Homo sapiens Q5W5X9-3
Validated Y2H
32296183
种属内
FANCL Q9NW38 TTC23 Homo sapiens Q5W5X9-3
Y2H Array
32296183
种属内
FANCL Q9NW38 MORN3 Homo sapiens Q6PF18
Y2H Array
32296183
种属内
FANCL Q9NW38 MORN3 Homo sapiens Q6PF18
Y2H Prey Pooling
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
Fanconi Anemia, Complementation Group L

Fanconi Anemia Complementation Group L

FANCL
Vacterl Association

Vater Association

Vater Syndrome
Vacterl Association, X-Linked, With Or Without Hydrocephalus

VACTERLX

X-Linked Vacterl Association

Vacterl-H, X-Linked

Vacterl Association, X-Linked

Vacterl Association, X-Linked With Or Without Hydrocephalus

Vacterl Association X-Linked With Or Without Hydrocephalus

Vacterl Syndrome

Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies

X-Linked Vacterl-H

Vacterl Association

Vacterl Association With Hydrocephalus
Vacterl Association With Hydrocephaly, X-Linked

X-Linked Vacterl-H Syndrome

Vacterl Association With Hydrocephalus
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
Fanconi Anemia, Complementation Group B

Fanconi Anemia Complementation Group B

FANCB

Facb

Fa2

Fanconi Pancytopenia Type 2

Fanconi Pancytopenia, Type 2
Fanconi Anemia, Complementation Group V

Fanconi Anemia Complementation Group V

FANCV
Bloom Syndrome

BLM

Bs

Bls

Bloom-Torre-Machacek Syndrome

Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1

Mgrisce1

Congenital Telangiectatic Erythema

Congenital Telangiectatic Erythema Syndrome

Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability

Bloom'S Syndrome

Bsyn
Fanconi Anemia, Complementation Group O

Fanconi Anemia Complementation Group O

FANCO
Fanconi Anemia, Complementation Group R

Fanconi Anemia Complementation Group R

FANCR
Fanconi Anemia, Complementation Group D2

Fanconi Anemia Complementation Group D2

FANCD2

Fad2

Fa4

Fancd

Fanconi Pancytopenia Type 4

Fanconi Anemia, Complementation Group D

Fanconi Pancytopenia, Type 4

Facd

Fanconi Anemia Complementation Group D
Fanconi Anemia, Complementation Group I

Fanconi Anemia Complementation Group I

FANCI
Physical Disorder

Physical Illness
Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck

HNSCC

Head And Neck Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lip

Squamous Cell Carcinoma, Head And Neck, Somatic

Carcinoma Of The Head And Neck

Squamous Cell Carcinomas Of Head And Neck

Scchn

Squamous Cell Carcinoma Of The Hypopharynx

Squamous Cell Carcinoma Of The Oropharynx

Squamous Cell Carcinoma Of Salivary Glands

Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

Squamous Cell Carcinoma Of The Oral Cavity

Squamous Cell Carcinoma Of The Lip

Carcinoma, Squamous Cell Of Head And Neck

Lip Squamous Cell Carcinoma

Carcinoma, Squamous Cell, Head And Neck

Salivary Gland Squamous Cell Carcinoma

Cancer Of Head And Neck

Squamous Cell Carcinoma Of Oropharynx Nos
Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos
Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum
Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia
Orofacial Cleft

Cleft, Orofacial
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-126539 UBE2T/FANCL-IN-1 99.83% 否
HY-RS04740 FANCL Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta FANCL VGNC VGNC:72542
Mus musculus FANCL MGD MGI:1914280
Canis familiaris FANCL VGNC VGNC:40724
Bos taurus FANCL VGNC VGNC:28860
Felis catus FANCL VGNC VGNC:80093
Rattus norvegicus FANCL RGD RGD:1311427
Others FANCL NCBI
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