2. Gene
  3. ASPRV1 - aspartic peptidase retroviral like 1 Gene

ASPRV1 - aspartic peptidase retroviral like 1 Gene

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

中文名称：天冬氨酸肽酶逆转录病毒样 1

种属: Homo sapiens

同用名: ADLI; MUNO; SASP; Taps; SASPase

基因 ID: 151516 | 基因类型: protein coding

关于 ASPRV1

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:69,932,717-70,087,375 (from NCBI)

This gene has 296 transcripts (splice variants).

功能概要

聚丝蛋白是一种结构蛋白，对皮肤屏障的形成和维持至关重要。该基因编码一种参与原聚丝蛋白到聚丝蛋白加工的逆转录病毒样蛋白酶。主要在毛囊的表皮和内根鞘中发现表达。[RefSeq 提供，2017 年 5 月]

Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles. [provided by RefSeq, May 2017]

ASPRV1 基因产物(1)

mRNA Protein Name
NM_152792.4 NP_690005.3 retroviral-like aspartic protease 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables aspartic-type endopeptidase activity IDA
IDA: 通过直接分析推断
16098038 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein processing IDA
IDA: 通过直接分析推断
16098038 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

ASPRV1 蛋白结构

Asp_protease_2

Asp_protease_2: Aspartyl protease (199 - 288)

  • 0
  • 100
  • 200
  • 300
  • 343 a.a.
蛋白主名 其他名称

retroviral-like aspartic protease 1

TPA-inducible aspartic proteinase-like protein

关联疾病

疾病名称 别名
Ichthyosis, Lamellar, Autosomal Dominant

Lamellar Ichthyosis, Autosomal Dominant

ADLI

Ichthyosis Lamellar, Autosomal Dominant

Autosomal Dominant Lamellar Ichthyosis
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Ichthyosis Vulgaris

Ichthyosis Simplex

Dominant Congenital Ichthyosiform Erythroderma

Common Ichthyosis

Fish Scale Disease

VI

Ichthyoses

Congenital Ichthyosis
Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

RRS1

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs

Costovertebral Segmentation Defect With Mesomelia, Formerly

Covesdem Syndrome, Formerly

Costovertebral Segmentation Defect With Mesomelia

Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly

Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly

Robinow, Autosomal Recessive Syndrome, Type 1
Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma
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-RS01106 ASPRV1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ASPRV1 VGNC VGNC:70134
Mus musculus ASPRV1 MGD MGI:1915105
Rattus norvegicus ASPRV1 RGD RGD:1560859
Canis familiaris ASPRV1 VGNC VGNC:108224
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