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  2. ARHGAP27 - Rho GTPase activating protein 27 Gene

ARHGAP27 - Rho GTPase activating protein 27 Gene

中文名称:Rho GTP 酶激活蛋白 27

种属: Homo sapiens

同用名: PP905; SH3D20; SH3P20; CAMGAP1

基因 ID: 201176 | 基因类型: protein coding

关于 ARHGAP27

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:45,393,908-45,432,870 (from NCBI)

This gene has 24 transcripts (splice variants), 1 gene allele, 276 orthologues and 3 paralogues. Ubiquitous expression in esophagus (RPKM 12.5), spleen (RPKM 12.5) and 23 other tissues.

功能概要

该基因编码一大类蛋白质的成员,这些蛋白质可激活 Rho 型三磷酸鸟苷 (GTP) 代谢酶。编码的蛋白质可能在网格蛋白介导的内吞作用中发挥作用。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2013 年 8 月]

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing Enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]

ARHGAP27 基因产物(19)

mRNA Protein Name
NM_001282290.2 NP_001269219.1 rho GTPase-activating protein 27 isoform d
NM_001385384.1 NP_001372313.1 rho GTPase-activating protein 27 isoform e
NM_001385385.1 NP_001372314.1 rho GTPase-activating protein 27 isoform f
NM_001385386.1 NP_001372315.1 rho GTPase-activating protein 27 isoform g
NM_001385387.1 NP_001372316.1 rho GTPase-activating protein 27 isoform h
NM_001385388.1 NP_001372317.1 rho GTPase-activating protein 27 isoform i
NM_001385389.1 NP_001372318.1 rho GTPase-activating protein 27 isoform j
NM_001385390.1 NP_001372319.1 rho GTPase-activating protein 27 isoform k
NM_001385391.1 NP_001372320.1 rho GTPase-activating protein 27 isoform l
NM_001385392.1 NP_001372321.1 rho GTPase-activating protein 27 isoform m
NM_001385393.1 NP_001372322.1 rho GTPase-activating protein 27 isoform n
NM_001385394.1 NP_001372323.1 rho GTPase-activating protein 27 isoform o
NM_001385395.1 NP_001372324.1 rho GTPase-activating protein 27 isoform p
NM_001385396.1 NP_001372325.1 rho GTPase-activating protein 27 isoform q
NM_001385397.1 NP_001372326.1 rho GTPase-activating protein 27 isoform r
NM_001385398.1 NP_001372327.1 rho GTPase-activating protein 27 isoform s
NM_001385399.1 NP_001372328.1 rho GTPase-activating protein 27 isoform s
NM_174919.4 NP_777579.2 rho GTPase-activating protein 27 isoform c
NM_199282.3 NP_954976.1 rho GTPase-activating protein 27 isoform a

ARHGAP27 蛋白结构

WW

WW: WW domain (247 - 278)

PH

PH: PH domain (499 - 609)

RhoGAP

RhoGAP: RhoGAP domain (711 - 860)

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  • 889 a.a.
蛋白主名 其他名称

rho GTPase-activating protein 27

CIN85-associated multi-domain-containing Rho GTPase-activating protein 1

关联疾病

疾病名称 别名
Kanzaki Disease

Alpha-N-Acetylgalactosaminidase Deficiency Type 2

Naga Deficiency Type 2

Schindler Disease, Type Ii

Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency

Schindler Disease Type 2

Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii

Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset

Naga Deficiency, Type Ii

Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset

KANZD

Naga Deficiency Type Ii

Schindler Disease Type Ii

Schindler Disease

Alpha-N-Acetylgalactosaminidase Deficiency

Naga Deficiency

Alpha-Galactosidase B Deficiency

Alpha-Galnac Deficiency, Schindler Type

Alpha-Naga Deficiency

Angiokeratoma Corporis Diffusum-Glycopeptiduria

Galb Deficiency

Kanzaki Disease

Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum

Neuroaxonal Dystrophy, Schindler Type

Neuronal Axonal Dystrophy, Schindler Type

Schindler Disease, Type I

Schindler Disease, Type Ii

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
Bos taurus ARHGAP27 VGNC VGNC:26085
Mus musculus ARHGAP27 MGD MGI:1916903
Macaca mulatta ARHGAP27 VGNC VGNC:69935
Rattus norvegicus ARHGAP27 RGD RGD:735202
Felis catus ARHGAP27 VGNC VGNC:59884