DCAF17 - DDB1 and CUL4 associated factor 17 Gene

中文名称：DDB1 和 CUL4 相关因子 17

种属: Homo sapiens

同用名: C2orf37; C20orf37

基因 ID: 80067 | 基因类型: protein coding

关于 DCAF17

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:171,434,226-171,485,052 (from NCBI)

This gene has 12 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 5.0), testis (RPKM 3.3) and 25 other tissues.

功能概要

该基因编码与 cullin 4A/受损 DNA 结合蛋白 1 泛素连接酶复合物相关的核跨膜蛋白。该基因的突变与 Woodhouse-Sakati 综合征有关。交替剪接导致多个转录本变体。[RefSeq 提供，2009 年 9 月]

This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin Ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

DCAF17 基因产物(2)

mRNA	Protein	Name
NM_001164821.2	NP_001158293.1	DDB1- and CUL4-associated factor 17 isoform 2
NM_025000.4	NP_079276.2	DDB1- and CUL4-associated factor 17 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 protein binding	IPI IPI: 通过物理相互作用推断	16949367	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Cul4-RING E3 ubiquitin ligase complex	IDA IDA: 通过直接分析推断	16949367	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

蛋白主名

其他名称

DDB1- and CUL4-associated factor 17

关联疾病

疾病名称

别名

Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome	Woodhouse Sakati Syndrome
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome	WDSKS
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia	Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia	Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
Neuroectodermal Endocrine Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
Wss

Alopecia

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Hypogonadism

Neurodegeneration With Brain Iron Accumulation 4

NBIA4	Mpan
Mitochondrial Protein-Associated Neurodegeneration	Nbia Due To C19orf12 Mutation
Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation	Neurodegeneration With Brain Iron Accumulation Type 4
Mitochondrial Membrane Protein Associated Neurodegeneration	Neurodegeneration, With Brain Iron Accumulation, Type 4

Wrinkly Skin Syndrome

WSS	Wrinkled Skin Syndrome

Neurodegeneration With Brain Iron Accumulation 3

Neuroferritinopathy	NBIA3
Ferritin-Related Neurodegeneration	Hereditary Ferritinopathy
Basal Ganglia Disease, Adult-Onset	Adult Basal Ganglia Disease
Neuroferritinopathy	Basal Ganglia Disease, Adult-Onset
Basal Ganglia Disease Adult-Onset	Adult-Onset Basal Ganglia Disease
Neurodegeneration, With Brain Iron Accumulation, Type 3

Hypotrichosis

Neurodegeneration With Brain Iron Accumulation 2a

Infantile Neuroaxonal Dystrophy	Plan
Seitelberger Disease	Inad
Infantile Neuroaxonal Dystrophy 1	Inad1
Pla2g6-Associated Neurodegeneration	NBIA2A
Neuroaxonal Dystrophy, Infantile	Neurodegeneration, Pla2g6-Associated
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	Phospholipase A2-Associated Neurodegeneration
Nbia2	Pla2g6-Related Disorders
Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy	Karak Syndrome, Included
Nbia2b	Neuroaxonal Dystrophy, Atypical
Neurodegeneration With Brain Iron Accumulation 2b	Nbia, Pla2g6-Related
Seitelberger'S Disease	Neurodegeneration Pla2g6-Associated
Dystrophy, Neuroaxonal, Infantile	Neurodegeneration, With Brain Iron Accumulation, Type 2a
Neuroaxonal Dystrophies	Neurodegeneration With Brain Iron Accumulation 2

Hypotrichosis 11

HYPT11

Hypotrichosis, Type 11

Neurodegeneration With Brain Iron Accumulation 2b

NBIA2B	Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Neuroaxonal Dystrophy, Atypical	Karak Syndrome
Atypical Neuroaxonal Dystrophy	Neurodegeneration With Brain Iron Accumulation Pla2g6-Related
Neurodegeneration, With Brain Iron Accumulation, Type 2b	Neurodegeneration With Brain Iron Accumulation 2

Neurodegeneration With Brain Iron Accumulation 1

Pantothenate Kinase-Associated Neurodegeneration	Pkan
NBIA1	Hallervorden-Spatz Disease
Hallervorden-Spatz Syndrome	Pigmentary Pallidal Degeneration
Neuroaxonal Dystrophy, Late Infantile	Neurodegeneration With Brain Iron Accumulation Type 1
Classic Pantothenate Kinase-Associated Neurodegeneration	Pkan Neuroaxonal Dystrophy, Juvenile-Onset
Brain Iron Accumulation Type I Syndrome	Nbia
Neurodegeneration With Brain Iron Accumulation	Nbia1, Classic Form
Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form	Pkan, Classic Form
Atypical Pantothenate Kinase-Associated Neurodegeneration	Nbia1, Atypical Form
Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form	Pkan, Atypical Form
Hss	Pkan Neuroaxonal Dystrophy Juvenile-Onset
Neurodegeneration, With Brain Iron Accumulation, Type 1

Diabetes Mellitus

Diabetes

Hereditary Spastic Paraplegia 35

Autosomal Recessive Spastic Paraplegia Type 35	Spg35
Autosomal Recessive Spastic Paraplegia 35	Fahn
Fatty Acid Hydroxylase-Associated Neurodegeneration	Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Kufor-Rakeb Syndrome

Park9	Krppd
KRS	Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia
Autosomal Recessive Parkinson Disease 9	Parkinson Disease 9
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset	Autosomal Recessive Juvenile Onset Parkinson Disease 9
Parkinson Disease Type 9	Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia
Park 9	Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Cln12 Disease	Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis
Parkinson Disease Autosomal Recessive 9

Neurodegeneration With Brain Iron Accumulation 5

NBIA5	Beta-Propeller Protein-Associated Neurodegeneration
Bpan	Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
Senda	Neurodegeneration With Brain Iron Accumulation Type 5
Neurodegeneration With Brain Iron Accululation 5	Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood
Neurodegeneration, With Brain Iron Accululation, Type 5

Alopecia, Neurologic Defects, And Endocrinopathy Syndrome

Ane Syndrome	ANES
Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome	Alopecia-Progressive Neurological Defect-Endocrinopathy
Endocrine System Diseases

Neuroaxonal Dystrophy

Neuroaxonal Dystrophies

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome	Jensen Syndrome
Deafness Dystonia Syndrome	MTS
Dds	Deafness-Dystonia-Optic Atrophy Syndrome
Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency	Opticoacoustic Nerve Atrophy With Dementia
Dystonia-Deafness Syndrome	Ddp
Ddon Syndrome	Mohr-Tranebjærg Syndrome
Deafness Dystonia Optic Atrophy Syndrome	Deafness Dystonia Optic Neuronopathy Syndrome
Dystonia Deafness Syndrome	Ddon
Deafness - Dystonia - Optic Neuronopathy Syndrome	Deafness-Dystonia-Optic Neuronopathy Syndrome
Hearing Loss-Dystonia-Optic Neuronopathy Syndrome	Dfn-1
X-Linked Progressive Deafness Type 1

Early-Onset Parkinson'S Disease

Early-Onset Parkinson Disease

Hair Disease

Hair Diseases	Hair Anomaly
Hair Disorder	Hair Problems

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03563	DCAF17 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	DCAF17	VGNC	VGNC:80179
Rattus norvegicus	DCAF17	RGD	RGD:1565551
Canis familiaris	DCAF17	VGNC	VGNC:39793
Mus musculus	DCAF17	MGD	MGI:1923013
Bos taurus	DCAF17	VGNC	VGNC:27904
Macaca mulatta	DCAF17	VGNC	VGNC:71709

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

DCAF17 - DDB1 and CUL4 associated factor 17 Gene

关于 DCAF17

功能概要

DCAF17 基因产物(2)

关联疾病

直系同源

热门区域

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DCAF17 - DDB1 and CUL4 associated factor 17 Gene

关于 DCAF17

功能概要

DCAF17 基因产物(2)

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z