1. Gene
  2. KLK12 - kallikrein related peptidase 12 Gene

KLK12 - kallikrein related peptidase 12 Gene

中文名称:激肽释放酶相关肽酶 12

种属: Homo sapiens

同用名: KLKL5; KLK-L5

基因 ID: 43849 | 基因类型: protein coding

关于 KLK12

Cytogenetic location: 19q13.41 Genomic coordinates (GRCh38): 19:51,029,094-51,035,002 (from NCBI)

This gene has 8 transcripts (splice variants), 173 orthologues and 12 paralogues. Biased expression in esophagus (RPKM 4.6), salivary gland (RPKM 1.0) and 4 other tissues.

功能概要

激肽释放酶是具有不同生理功能的丝氨酸蛋白酶的一个亚组。越来越多的证据表明,许多激肽释放酶与致癌作用有关,有些具有作为新型癌症和其他疾病生物标志物的潜力。该基因是位于 19 号染色体簇中的 15 个激肽释放酶亚家族成员之一。该基因的交替剪接导致三种转录变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel Cancer and Other disease biomarkers. This gene is one of the fifteen Kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

KLK12 基因产物(7)

mRNA Protein Name
NM_001370125.1 NP_001357054.1 kallikrein-12 isoform 2 precursor
NM_001370126.1 NP_001357055.1 kallikrein-12 isoform 4
NM_001370127.1 NP_001357056.1 kallikrein-12 isoform 3
NM_001370128.1 NP_001357057.1 kallikrein-12 isoform 3
NM_019598.3 NP_062544.1 kallikrein-12 isoform 1 precursor
NM_145894.2 NP_665901.1 kallikrein-12 isoform 2 precursor
NM_145895.2 NP_665902.2 kallikrein-12 isoform 3
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 peptidase activity IDA
IDA: 通过直接分析推断
21628462 GOA
enables serine-type peptidase activity IDA
IDA: 通过直接分析推断
15300858 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in proteolysis IDA
IDA: 通过直接分析推断
21628462 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

KLK12 蛋白结构

Trypsin

Trypsin: Trypsin (22 - 241)

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

kallikrein-12

kallikrein-like protein 5

关联疾病

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus KLK12 MGD MGI:1916761
Bos taurus KLK12 VGNC VGNC:30674
Felis catus KLK12 VGNC VGNC:67963
Rattus norvegicus KLK12 RGD RGD:1308975
Macaca mulatta KLK12 VGNC VGNC:74190