ARVCF - ARVCF delta catenin family member Gene

中文名称：ARVCF 三角洲连环蛋白家族成员

种属: Homo sapiens

基因 ID: 421 | 基因类型: protein coding

关于 ARVCF

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,965,134-20,016,823 (from NCBI)

This gene has 11 transcripts (splice variants), 278 orthologues, 6 paralogues and is associated with 1 phenotype. Broad expression in spleen (RPKM 5.1), thyroid (RPKM 3.0) and 25 other tissues.

功能概要

Velo-Cardio-Facial 综合征 (ARVCF) 中删除的犰狳重复基因是连环蛋白家族的成员。该家族在粘附连接复合物的形成中起着重要作用，粘附连接复合物被认为可以促进细胞内外环境之间的交流。 ARVCF 基因是在寻找导致常染色体显性 Velo-Cardio-Facial 综合征 (VCFS) 的遗传缺陷时分离出来的，VCFS 是一种相对常见的人类疾病，其表型特征包括腭裂、圆锥干心脏缺陷和面部畸形。 ARVCF 基因编码的蛋白质包含两个基序，一个位于 N 末端的螺旋结构域，另一个位于中间区域的 10 犰狳重复序列。由于这些序列可以促进蛋白质-蛋白质相互作用，因此 ARVCF 被认为在蛋白质复合物中发挥作用。此外，ARVCF 包含一个预测的核靶向序列，表明它可能具有作为核蛋白的功能。[RefSeq 提供，2010 年 6 月]

Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]

ARVCF 基因产物(2)

mRNA	Protein	Name
NM_001410839.1	NP_001397768.1	splicing regulator ARVCF isoform 2
NM_001670.3	NP_001661.1	splicing regulator ARVCF isoform 1

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 cadherin binding	IPI IPI: 通过物理相互作用推断	10725230	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	19706687	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in RNA splicing	IMP IMP: 通过突变表型推断	24644279	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in adherens junction	IDA IDA: 通过直接分析推断	10725230	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	24644279	GOA
located in nucleus	IDA IDA: 通过直接分析推断	10725230	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

ARVCF 蛋白结构

Arm

0
200
400
600
800
962 a.a.

蛋白主名

其他名称

splicing regulator ARVCF

armadillo repeat protein deleted in velo-cardio-facial syndrome

armadillo repeat gene deleted in velocardiofacial syndrome

关联疾病

疾病名称

别名

Velocardiofacial Syndrome

Shprintzen Syndrome	VCFS
Chromosome 22q11.2 Deletion Syndrome	Vcf Syndrome
Shprintzen Vcf Syndrome	Vcf-Velocardiofacial Syndrome
Velo-Cardio-Facial Syndrome	Digeorge Syndrome
22q11 Deletion Syndrome	Conotruncal Anomaly Face Syndrome

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Pinguecula

Conjunctival Degeneration

Cri-Du-Chat Syndrome

5p Deletion Syndrome	5p Partial Monosomy Syndrome
Monosomy 5p	Cat Cry Syndrome
Chromosome 5p Deletion Syndrome	Cri Du Chat Syndrome
5p- Syndrome	5p Minus Syndrome
Chromosome 5p- Syndrome	Chromosome 5 Short Arm Deletion Syndrome
Chromosome 5p Deletion	Deletion 5p
Cri Du Chat	5p Partial Deletion Syndrome
Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Chromosomal Deletion Syndrome

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

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-RS01050	ARVCF Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	ARVCF	VGNC	VGNC:49535
Mus musculus	ARVCF	MGD	MGI:109620
Canis familiaris	ARVCF	VGNC	VGNC:49589
Macaca mulatta	ARVCF	VGNC	VGNC:70027
Felis catus	ARVCF	VGNC	VGNC:68319
Rattus norvegicus	ARVCF	RGD	RGD:1306655

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