1. Gene
  2. KLB - klotho beta Gene

KLB - klotho beta Gene

中文名称:克洛索贝塔

种属: Homo sapiens

同用名: BKL

基因 ID: 152831 | 基因类型: protein coding

关于 KLB

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:39,406,930-39,451,533 (from NCBI)

This gene has 1 transcript (splice variant), 202 orthologues and 4 paralogues. Biased expression in fat (RPKM 16.3), liver (RPKM 5.1) and 2 other tissues.

功能概要

启用成纤维细胞生长因子结合活性和成纤维细胞生长因子受体结合活性。预测参与成纤维细胞生长因子受体信号通路。预计通过成纤维细胞生长因子受体信号通路和细胞群增殖的正调节在 MAPKKK 级联的上游或内部发挥作用。预测位于质膜中。预计在内质网中有活性。 [由基因组资源联盟提供,2022 年 4 月]

Enables Fibroblast Growth Factor binding activity and Fibroblast Growth Factor receptor binding activity. Predicted to be involved in Fibroblast Growth Factor receptor signaling pathway. Predicted to act upstream of or within positive regulation of MAPKKK cascade by Fibroblast Growth Factor receptor signaling pathway and positive regulation of cell population proliferation. Predicted to be located in plasma membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

KLB 基因产物(1)

mRNA Protein Name
NM_175737.4 NP_783864.1 beta-klotho
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables fibroblast growth factor binding IPI
IPI: 通过物理相互作用推断
18829467 GOA
enables fibroblast growth factor receptor binding IPI
IPI: 通过物理相互作用推断
17627937 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19059246 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

KLB 蛋白结构

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (79 - 373)

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (390 - 508)

Glyco_hydro_1

Glyco_hydro_1: Glycosyl hydrolase family 1 (519 - 966)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1044 a.a.
蛋白主名 其他名称

beta-klotho

b-Klotho

KLB 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
KLB Q86Z14 FGF21 Homo sapiens Q9NSA1
SPR
19059246
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 KLB 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77972 Klotho beta Protein, Human (HEK293, His) Q86Z14 (M30-T983) ≥95%

关联疾病

疾病名称 别名
Functional Diarrhea

Functional Diarrhoea

Outlet Dysfunction Constipation
Epilepsy, Idiopathic Generalized 4

EIG4

Epilepsy, Idiopathic Generalized, Susceptibility To 4

Idiopathic Generalized Epilepsy 4

Epilepsy, Idiopathic Generalized, Susceptibility To, 4

Epilepsy, Idiopathic Generalized Locus On Chromosome 10

Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 10

Hypogonadotropic Hypogonadism 23 With Or Without Anosmia

Fertile Eunuch Syndrome

Pasqualini Syndrome

HH23

46,Xy Disorder Of Sex Development Due To Lhb Deficiency

46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Subunit Beta Deficiency

46,Xy Dsd Due To Lhb Deficiency

46,Xy Dsd Due To Luteinizing Hormone Subunit Beta Deficiency

Leydig Cell Hypoplasia Due To Lhb Deficiency

Leydig Cell Hypoplasia Due To Luteinizing Hormone Subunit Beta Deficiency

Eunuchoidism With Spermatogenesis, Normal Fsh And Low Or Normal Interstitial Cell-Stimulating Hormone

Hypogonadism, Hypogonadotropic, Type 23, With/Without Anosmia

Non-Alcoholic Fatty Liver Disease

Fatty Liver

Non-Alcoholic Fatty Liver

Nafld

Nonalcoholic Fatty Liver Disease

Nonalcoholic Steatohepatitis

Steatosis

Nafl

Nash

Non-Alcoholic Steatohepatitis

Susceptibility To Nonalcoholic Fatty Liver Disease

Steatohepatitis

Fatty Degeneration

Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

Nafld Without Nash

Nafld Without Mention Of Nash

Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Tick-Borne Encephalitis

Siberian Tick-Borne Encephalitis

Encephalitis, Tick-Borne

Central European Encephalitis

Far Eastern Tbe

Russian Spring-Summer Encephalitis

Taiga Encephalitis

West-Siberian Encephalitis

Western European Tick-Borne Encephalitis

Tbe

Encephalitis Tick-Borne

Encephalitis, Central European

Encephalitis, Far Eastern Russian

Intrahepatic Cholestasis Of Pregnancy

Recurrent Intrahepatic Cholestasis Of Pregnancy

Gravidic Intrahepatic Cholestasis

Pregnancy-Related Cholestasis

Icp

Pregnancy Related Cholestasis

Cholestasis, Intrahepatic Of Pregnancy

Familial Intrahepatic Cholestasis Of Pregnancy

Familial Recurrent Intrahepatic Cholestasis Of Pregnancy

Ricp

Obstetric Cholestasis

Adult Hepatocellular Carcinoma

Adult Primary Hepatocellular Carcinoma

Adult Hepatoma

Adult Hcc

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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
Macaca mulatta KLB VGNC VGNC:73835
Felis catus KLB VGNC VGNC:63126
Bos taurus KLB VGNC VGNC:30622
Canis familiaris KLB VGNC VGNC:42426
Mus musculus KLB MGD MGI:1932466
Rattus norvegicus KLB RGD RGD:1308227
Others KLB NCBI