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  2. HCFC1 - host cell factor C1 Gene

HCFC1 - host cell factor C1 Gene

中文名称:宿主细胞因子 C1

种属: Homo sapiens

同用名: CFF; HCF; HCF1; HFC1; MRX3; VCAF; HCF-1; MAHCX; XLID3; PPP1R89

基因 ID: 3054 | 基因类型: protein coding

关于 HCFC1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,947,557-153,971,818 (from NCBI)

This gene has 4 transcripts (splice variants), 158 orthologues, 10 paralogues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 11.5), spleen (RPKM 8.5) and 25 other tissues.

功能概要

该基因是宿主细胞因子家族的一员,编码一种具有五个 Kelch 重复序列、一个类纤连蛋白基序和六个 HCF 重复序列的蛋白质,每个重复序列都包含一个高度特异性的切割信号。这种核共激活因子在六个可能位点之一被蛋白水解切割,导致产生 N 端链和相应的 C 端链。这种蛋白质的最终形式由非共价结合的 N 和 C 末端链组成。该蛋白参与单纯疱疹病毒感染期间细胞周期的控制和转录调节。已经描述了编码不同蛋白质同种型的可变剪接变体;然而,并非所有变体都得到了充分表征。[RefSeq 提供,2008 年 7 月]

This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus Infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

HCFC1 基因产物(2)

mRNA Protein Name
NM_001410705.1 NP_001397634.1 host cell factor 1 isoform 1
NM_005334.3 NP_005325.2 host cell factor 1 isoform 2

HCFC1 蛋白结构

Kelch_1

Kelch_1: Kelch motif (32 - 69)

Kelch_3

Kelch_3: Galactose oxidase, central domain (91 - 143)

Kelch_3

Kelch_3: Galactose oxidase, central domain (146 - 208)

Kelch_3

Kelch_3: Galactose oxidase, central domain (217 - 263)

Kelch_3

Kelch_3: Galactose oxidase, central domain (264 - 330)

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  • 2035 a.a.
蛋白主名 其他名称

host cell factor 1

VP16-accessory protein

HCFC1 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 HCFC1 P51610 FOXO3 Homo sapiens O43524
Anti Tag CoIP
21909281
Intra HCFC1 P51610 THAP11 Homo sapiens Q96EK4
Pull Down
18585351
Intra HCFC1 P51610 BAP1 Homo sapiens Q92560
Anti Bait CoIP
24211834
Intra HCFC1 P51610 SP1 Homo sapiens P08047
Anti Tag CoIP
12670868
Intra HCFC1 P51610 HDAC2 Homo sapiens Q92769
Anti Tag CoIP
12670868
Intra HCFC1 P51610 HDAC1 Homo sapiens Q13547
Anti Tag CoIP
12670868
Intra HCFC1 P51610 SIN3A Homo sapiens Q96ST3
Anti Tag CoIP
12670868
Intra HCFC1 P51610 ZBTB17 Homo sapiens Q13105
Pull Down
12244100
Intra HCFC1 P51610 ZBTB17 Homo sapiens Q13105
Y2H
12244100
Intra HCFC1 P51610 CREBZF Homo sapiens Q9NS37
Y2H
10871379
Intra HCFC1 P51610 CREBZF Homo sapiens Q9NS37
Transcription Compl
10871379
Intra HCFC1 P51610 WDR5 Homo sapiens P61964
Anti Tag CoIP
12670868
Intra HCFC1 P51610 CREB3 Homo sapiens O43889
Biophysical
10629049
Intra HCFC1 P51610 CREB3 Homo sapiens O43889
Pull Down
15705566
Intra HCFC1 P51610 CREB3 Homo sapiens O43889
Transcription Compl
10871379
Intra HCFC1 P51610 CREBZF Homo sapiens Q9NS37
Pull Down
10871379
Intra HCFC1 P51610 ASH2L Homo sapiens Q9UBL3
Anti Tag CoIP
12670868
Intra HCFC1 P51610 OGT Homo sapiens O15294
Protease Assay
21295698
Intra HCFC1 P51610 OGT Homo sapiens O15294
Anti Bait CoIP
21295698
Intra HCFC1 P51610 OGT Homo sapiens O15294
Anti Tag CoIP
12670868
Intra HCFC1 P51610 SUDS3 Homo sapiens Q9H7L9
Anti Tag CoIP
12670868
Intra HCFC1 P51610 SETD1A Homo sapiens O15047
Anti Tag CoIP
12670868
Intra HCFC1 P51610 GABPB1 Homo sapiens Q06547
Pull Down
10675337
Intra HCFC1 P51610 GABPB1 Homo sapiens Q06547-2
Y2H
10675337
Intra HCFC1 P51610 GABPB1 Homo sapiens Q06547-2
Pull Down
10675337
Intra HCFC1 P51610 CREB3 Homo sapiens O43889-2
Y2H
9271389
Intra HCFC1 P51610 CREB3 Homo sapiens O43889-2
Pull Down
18391022
Intra HCFC1 P51610 GABPA Homo sapiens Q06546
Pull Down
10675337
Intra HCFC1 P51610 THAP1 Homo sapiens Q9NVV9
CH-IP
28486698
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
Methylmalonic Aciduria And Homocystinuria, Cblx Type

Mental Retardation, X-Linked 3

Methylmalonic Acidemia With Homocystinuria, Type Cblx

MAHCX

Intellectual Developmental Disorder, X-Linked 3

Xlid3

Mrx3

Methylmalonic Acidemia And Homocysteinemia Cblx Type

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx

Methylmalonic Aciduria With Homocystinuria, Type Cblx

Methylmalonic Acidemia And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia , Cblx Type

Mental Retardation, X-Linked, Type 3

Methylmalonic Aciduria And Homocystinuria, Cblc Type

MAHCC

Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase

Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic

Methylmalonic Aciduria And Homocystinuria Type Cblc

Cobalamin C Disease

Methylmalonic Acidemia With Homocystinuria Cblc

Methylmalonic Acidemia And Homocystinuria, Cblc Type

Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive

Cobalamin C Deficiency

Methylmalonic Acidemia With Homocystinuria, Type Cblc

Cblc Defect

Cobalamin C Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc

Methylmalonic Aciduria With Homocystinuria, Type Cblc

Methylmalonic Acidemia And Homocystinuria Cblc Type

Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive

Aciduria, Methylmalonic, And Homocystinuria, Cblc Type

Methylmalonic Acidemia With Homocystinuria

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Disorders Of Intracellular Cobalamin Metabolism
Herpes Simplex

Herpes Simplex Infections

Herpesvirus Hominis Disease

Herpes Simplex Disease

Herpesviral Infection Due To Herpes Simplex

Infections Due To Simplex Virus

Herpes Nos

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1

Mrx18

Mrx78

X-Linked Mental Retardation 1/78

X-Linked Mental Retardation 18

American Histoplasmosis

Infection By Histoplasma Capsulatum

Malignant Pleural Mesothelioma

Malignant Mesothelioma Of Pleura

Pleural Malignant Mesothelioma

Dengue Disease

Dengue Fever

Dengue

Df

Dengue Shock Syndrome

Dengue Virus Infection

Breakbone Fever

Classic Dengue

Classical Dengue

Dengue Hemorrhagic Fever

Hemorrhagic Dengue

Philippine Hemorrhagic Fever

Singapore Hemorrhagic Fever

Thai Hemorrhagic Fever

Severe Dengue

Dengue Fever Without Warning Signs

Dengue Haemorrhagic Fever Grade 1

Dengue Haemorrhagic Fever Without Warning Signs

Bangkok Haemorrhagic Fever

Singapore Haemorrhagic Fever

Thailand Haemorrhagic Fever

Southeast Asia Haemorrhagic Fever

Dhf -[Dengue Haemorrhagic Fever]

Dengue Fever With Warning Signs

Dengue Haemorrhagic Fever With Warning Signs

Dengue Haemorrhagic Fever Grade 2

Philippine Haemorrhagic Fever

Non-Syndromic X-Linked Intellectual Disability 2

Mrx2

Waisman Syndrome

Early-Onset Parkinsonism-Intellectual Disability Syndrome

Bgmr

Wsn

Laxova-Opitz Syndrome

WSMN

Parkinsonism, Early-Onset, With Mental Retardation

Basal Ganglion Disorder With Mental Retardation

Basal Ganglia Disorder With Intellectual Disability

Laxova Brown Hogan Syndrome

X-Linked Recessive Basal Ganglia Disorder With Intellectual Disability

African Histoplasmosis
Homocystinuria

Cystathionine Beta Synthase Deficiency

Homocysteinemia

Cbs Deficiency

Cystathionine Synthase Deficiency

Cystathionine Beta-Synthase Deficiency Disease

Holoprosencephaly 1

Arhinencephaly

HPE1

Cyclopia

Holoprosencephaly, Familial Alobar

Hpe, Familial

Hpec

Demyer Sequence

Holoprosencephaly-1

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Melanoma, Uveal

Uveal Melanoma

Choroidal Melanoma

Melanoma Of Uvea

Iris Melanoma

Malignant Melanoma Of Choroid

Malignant Melanoma Of Iris

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Macaca mulatta HCFC1 VGNC VGNC:73352
Felis catus HCFC1 VGNC VGNC:67541
Mus musculus HCFC1 MGD MGI:105942
Rattus norvegicus HCFC1 RGD RGD:1563804
Canis familiaris HCFC1 VGNC VGNC:41615
Bos taurus HCFC1 VGNC VGNC:29771