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  2. RAD54L - RAD54 like Gene

RAD54L - RAD54 like Gene

中文名称:RAD54 样

种属: Homo sapiens

同用名: HR54; hHR54; RAD54A; hRAD54

基因 ID: 8438 | 基因类型: protein coding

关于 RAD54L

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:46,247,688-46,278,473 (from NCBI)

This gene has 21 transcripts (splice variants), 197 orthologues, 30 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 5.9), lymph node (RPKM 2.7) and 15 other tissues.

功能概要

该基因编码的蛋白质属于 DEAD 样解旋酶超家族,与酿酒酵母 Rad54 具有相似性,后者是一种已知参与 DNA 同源重组和修复的蛋白质。这种蛋白质已被证明在 DNA 双链断裂的同源重组相关修复中发挥作用。这种蛋白质与双链 DNA 的结合会引起 DNA 拓扑变化,这被认为有助于同源 DNA 配对,并刺激 DNA 重组。可变剪接导致编码相同蛋白质的多个转录变体。[RefSeq 提供,2008 年 12 月]

The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]

RAD54L 基因产物(3)

mRNA Protein Name
NM_001142548.2 NP_001136020.1 DNA repair and recombination protein RAD54-like isoform 1
NM_001370766.1 NP_001357695.1 DNA repair and recombination protein RAD54-like isoform 2
NM_003579.4 NP_003570.2 DNA repair and recombination protein RAD54-like isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP-dependent DNA/DNA annealing activity IDA
IDA: 通过直接分析推断
22705370 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16990250 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of protein-containing complex IMP
IMP: 通过突变表型推断
16990250 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

RAD54L 蛋白结构

Rad54_N

Rad54_N: Rad54 N terminal (73 - 123)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (156 - 463)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (532 - 611)

  • 0
  • 200
  • 400
  • 600
  • 747 a.a.
蛋白主名 其他名称

DNA repair and recombination protein RAD54-like

RAD54 homolog

RAD54L 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
RAD54L Q92698 TNKS2 Homo sapiens Q9H2K2 22153077
种属内
RAD54L Q92698 TNKS2 Homo sapiens Q9H2K2
FPS
22153077
种属内
RAD54L Q92698 NTAQ1 Homo sapiens Q96HA8 25416956
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
Lymphoma, Non-Hodgkin, Familial

Non-Hodgkin Lymphoma

Lymphoma, Non-Hodgkin

NHL

Lymphoma, Non-Hodgkin, Somatic

Lymphoma, Follicular, Somatic

Familial Non-Hodgkin Lymphoma

Lymphoma Non-Hodgkins

Follicular Lymphoma, Somatic

Lymphosarcoma

Non-Hodgkins Lymphoma

Breast Ductal Carcinoma

Ductal Breast Carcinoma

Duct Carcinoma

Carcinoma, Ductal

Mammary Ductal Carcinoma

Ductal Carcinoma

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma

Hereditary Breast Cancer

Familial Breast Cancer

Familial Breast Carcinoma

Hereditary Breast Carcinoma

Choroid Plexus Cancer

Choroid Plexus Carcinoma

Choroid Plexus Neoplasms

Choroid Plexus Neoplasm

Tumor Of Choroid Plexus

Tumor Of The Choroid Plexus

Choroid Plexus Tumor

Choroid Plexus Tumors

Anaplastic Choroid Plexus Papilloma

Choroid Plexus Papilloma Nos

Papilloma Of Choroid Plexus

Plexus Choroideus Papilloma

Choroid Plexus Papilloma In Fourth Ventricle

Plexus Choroideus Papilloma In Fourth Ventricle

Familial Adenomatous Polyposis 3

FAP3

Nthl1-Related Attenuated Familial Adenomatous Polyposis

Nthl1-Related Afap

Nthl1-Related Attenuated Fap

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

Atypical Choroid Plexus Papilloma

Atypical Papilloma Of Choroid Plexus

Atypical Cpp

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

Parkinson Disease 2, Autosomal Recessive Juvenile

Young-Onset Parkinson Disease

PARK2

Pdj

Autosomal Recessive Juvenile Parkinson Disease 2

Epdf

Parkinson Disease, Juvenile, Type 2

Parkinson'S Disease 2

Autosomal Recessive Juvenile Parkinson Disease

Early-Onset Parkinson Disease

Parkinson Disease 2

Parkinson Disease, Juvenile, Autosomal Recessive

Parkinsonism, Early-Onset, With Diurnal Fluctuation

Autosomal Recessive Juvenile Parkinson'S Disease 2

Jp

Juvenile Parkinsonism

Parkinson Disease Autosomal Recessive, Early Onset

Parkinsonism, Early Onset, With Diurnal Fluctuation

Yopd

Autosomal Recessive Early-Onset Parkinson Disease Type 2

Chromosome 6-Linked Autosomal Recessive Parkinsonism

Early-Onset Parkinsonism With Diurnal Fluctuation

Parkinsonism Young Adult Onset

Parkinson Disease, Type 2

Parkinsonism, Juvenile

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

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

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

直系同源

种属 基因名 来源 基因 ID
Felis catus RAD54L VGNC VGNC:80335
Canis familiaris RAD54L VGNC VGNC:49611
Macaca mulatta RAD54L VGNC VGNC:100050
Bos taurus RAD54L VGNC VGNC:49567
Mus musculus RAD54L MGD MGI:894697
Rattus norvegicus RAD54L RGD RGD:1310600