2. Gene
  3. EXPH5 - exophilin 5 Gene

EXPH5 - exophilin 5 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：exophilin 5

种属: Homo sapiens

同用名: EBS4; SLAC2B; SLAC2-B

基因 ID: 23086 | 基因类型: protein coding

关于 EXPH5

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:108,505,435-108,607,536 (from NCBI)

This gene has 6 transcripts (splice variants), 118 orthologues and is associated with 3 phenotypes. Biased expression in skin (RPKM 9.2), esophagus (RPKM 2.8) and 9 other tissues.

功能概要

由该基因编码的蛋白质是突触结合蛋白样蛋白 (Slp) 家族的成员，缺少 C2 结构域。它包含一个 N 端突触结合蛋白样同源结构域 (SHD) ，是一种 Ras 相关蛋白 Rab-27B 效应蛋白。这种蛋白质被认为参与外泌体分泌和细胞内囊泡运输。该基因表达减少会导致角蛋白丝缺陷。该基因的突变与某些大疱性表皮松解症 (一种遗传性皮肤脆弱症) 有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 8 月]

The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

EXPH5 基因产物(5)

mRNA Protein Name
NM_001144763.2 NP_001138235.1 exophilin-5 isoform 4
NM_001144764.2 NP_001138236.1 exophilin-5 isoform 5
NM_001144765.2 NP_001138237.1 exophilin-5 isoform 3
NM_001308019.2 NP_001294948.1 exophilin-5 isoform 2
NM_015065.3 NP_055880.2 exophilin-5 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 small GTPase binding IPI
IPI: 通过物理相互作用推断
16880209 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in keratinocyte development IMP
IMP: 通过突变表型推断
23176819 GOA
involved in multivesicular body sorting pathway IMP
IMP: 通过突变表型推断
19966785 GOA
involved in positive regulation of exocytosis IMP
IMP: 通过突变表型推断
19966785 GOA
involved in positive regulation of protein secretion IMP
IMP: 通过突变表型推断
19966785 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endosome IDA
IDA: 通过直接分析推断
19966785 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

exophilin-5

slp homolog lacking C2 domains b

关联疾病

疾病名称 别名
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive

EBS4

Epidermolysis Bullosa Simplex Due To Exophilin 5 Deficiency

Ebs Due To Exophilin 5 Deficiency
Epidermolysis Bullosa Simplex

Ebs

Epidermolysis Bullosa Intraepidermic

Epidermolytic Epidermolysis Bullosa
Epidermolysis Bullosa

Acantholysis Bullosa

Eb
Transient Bullous Dermolysis Of The Newborn

TBDN

Transient Bullous Of The Newborn

Epidermolysis Bullosa Dystrophica, Neonatal Form

Dystrophic Epidermolysis Bullosa, Neonatal

Deb, Bullous Dermolysis Of The Newborn

Deb-Bdn

Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form

Self-Improving Dystrophic Epidermolysis Bullosa

Self-Improving Deb

Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation

Epidermolysis Bullosa Simplex With Mottled Pigmentation

Ebsmp

Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering

Ebs-Mp

EBS2F

Ebs With Mottled Pigmentation

Epidermolysis Bullosa Simplex-Mp

Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering

Epidermolysis Bullosa Simplex, With Mottled Pigmentation
Epidermolysis Bullosa Simplex 1a, Generalized Severe

Epidermolysis Bullosa Simplex, Dowling-Meara Type

Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

EBS1A

Ebsdm

Epidermolysis Bullosa Simplex Dowling-Meara Type

Epidermolysis Bullosa Simplex, Herpetiformis

Ebs-Dm

Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type

Ebs-Gen Sev

Epidermolysis Bullosa Herpetiformis Dowling-Meara Type

Generalized Severe Epidermolysis Bullosa Simplex

Dowling-Meara Type Epidermolysis Bullosa Simplex

Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form

Autosomal Dominant Generalized Ebs, Severe Form

Epidermolysis Bullosa Simplex Herpetiformis

Dm-Ebs

Epidermolysis Bullosa Simplex, Generalized Severe

Epidermolysis Bullosa Herpetiformis, Dowling-Meara

Epidermolysis Bullosa Herpetiformis Dowling-Meara
Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional

Jeb

Epidermolysis Bullosa Atrophicans

Congenital Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Junctional

Junctional Eb - [Epidermolysis Bullosa]

Jeb - [Junctional Epidermolysis Bullosa]

Lucidolytic Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa

Deb

Dermolytic Epidermolysis Bullosa

Epidermolysis Bullosa, Dermolytic

Epidermolysis Bullosa, Dystrophic

Epidermolysis Bullosa Dystrophic

Dystrophic Eb - [Epidermolysis Bullosa]
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04606 EXPH5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus EXPH5 VGNC VGNC:28664
Mus musculus EXPH5 MGD MGI:2443248
Rattus norvegicus EXPH5 RGD RGD:1560308
Macaca mulatta EXPH5 VGNC VGNC:72412
Felis catus EXPH5 VGNC VGNC:105844
Canis familiaris EXPH5 VGNC VGNC:40530
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