2. Gene
  3. PRSS12 - serine protease 12 Gene

PRSS12 - serine protease 12 Gene

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

中文名称：丝氨酸蛋白酶 12

种属: Homo sapiens

同用名: MRT1; BSSP3; BSSP-3

基因 ID: 8492 | 基因类型: protein coding

关于 PRSS12

Cytogenetic location: 4q26 Genomic coordinates (GRCh38): 4:118,280,038-118,353,003 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues, 15 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 7.3), gall bladder (RPKM 6.2) and 18 other tissues.

功能概要

该基因编码丝氨酸蛋白酶胰蛋白酶家族的一个成员，包含一个信号肽、一个富含脯氨酸的区域、一个 Kringle 结构域、四个清道夫受体富含半胱氨酸的结构域和一个类胰蛋白酶的丝氨酸蛋白酶结构域。这种蛋白质有时被称为神经胰蛋白酶或 motopsin，由神经元细胞分泌并定位于突触间隙。对老鼠的研究表明，这种蛋白质会切割一种蛋白质，即集聚蛋白，它对于兴奋性突触的形成和维持很重要。该基因的缺陷会导致一种常染色体隐性认知障碍 (MRT1) 。[RefSeq 提供，2017 年 7 月]

This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017]

PRSS12 基因产物(1)

mRNA Protein Name
NM_003619.4 NP_003610.2 neurotrypsin precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in glutamatergic synapse IDA
IDA: 通过直接分析推断
12459588 GOA
is active in presynapse IDA
IDA: 通过直接分析推断
12459588 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

PRSS12 蛋白结构

Kringle

Kringle: Kringle domain (100 - 165)

SRCR

SRCR: Scavenger receptor cysteine-rich domain (174 - 270)

SRCR

SRCR: Scavenger receptor cysteine-rich domain (284 - 380)

SRCR

SRCR: Scavenger receptor cysteine-rich domain (391 - 485)

SRCR

SRCR: Scavenger receptor cysteine-rich domain (504 - 599)

Trypsin

Trypsin: Trypsin (631 - 869)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 875 a.a.
蛋白主名 其他名称

neurotrypsin

brain-specific serine protease 3

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Recessive 1

MRT1

Autosomal Recessive Intellectual Developmental Disorder 1

Mental Retardation, Autosomal Recessive 1
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability
Spinal Muscular Atrophy, Type Ii

SMA2

Sma Ii

Muscular Atrophy, Spinal, Intermediate Type

Muscular Atrophy, Spinal, Infantile Chronic Form

Intermediate Spinal Muscular Atrophy

Spinal Muscular Atrophy Type Ii

Spinal Muscular Atrophy-2

Spinal Muscular Atrophy 2

Spinal Muscular Atrophy Type 2

Dubowitz Disease

Proximal Spinal Muscular Atrophy Type 2

Sma Type 2

Sma Type Ii

Sma-Ii

Spinal Muscular Atrophy Infantile Chronic Form

Spinal Muscular Atrophy Intermediate Type

Spinal Muscular Atrophies Of Childhood

Atrophy, Muscular, Spinal, Type Ii

Muscular Atrophy, Spinal, Type Ii
Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia
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-RS11246 PRSS12 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PRSS12 VGNC VGNC:45062
Bos taurus PRSS12 VGNC VGNC:33413
Macaca mulatta PRSS12 VGNC VGNC:76431
Rattus norvegicus PRSS12 RGD RGD:69238
Mus musculus PRSS12 MGD MGI:1100881
Felis catus PRSS12 VGNC VGNC:69088
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