2. Gene
  3. KREMEN1 - kringle containing transmembrane protein 1 Gene

KREMEN1 - kringle containing transmembrane protein 1 Gene

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

中文名称：含 Kringle 跨膜蛋白 1

种属: Homo sapiens

同用名: KRM1; ECTD13; KREMEN

基因 ID: 83999 | 基因类型: protein coding

关于 KREMEN1

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:29,073,035-29,168,333 (from NCBI)

This gene has 6 transcripts (splice variants), 195 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in skin (RPKM 9.8), esophagus (RPKM 9.6) and 23 other tissues.

功能概要

该基因编码高亲和力的 dickkopf 同系物 1 (DKK1) 跨膜受体，该受体在功能上与 DKK1 协同阻断无翼 (Wnt) /β-连环蛋白信号传导。编码的蛋白质是膜复合物的一个组成部分，它通过脂蛋白受体相关蛋白 6 (LRP6) 调节典型的 Wnt 信号。它包含细胞外 kringle、WSC 和 CUB 结构域。该基因的突变导致外胚层发育不良。该蛋白还被发现是柯萨奇病毒 A10 的功能性受体，可能是 SARS-CoV-2 的替代进入受体。[RefSeq 提供，2021 年 11 月]

This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (Wnt)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical Wnt signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Mutations in this gene result in ectodermal dysplasia. This protein has also been found to be a functional receptor for Coxsackievirus A10 and may be an alternative entry receptor for SARS-CoV-2. [provided by RefSeq, Nov 2021]

KREMEN1 基因产物(2)

mRNA Protein Name
NM_001039570.3 NP_001034659.2 kremen protein 1 isoform 3 precursor
NM_032045.5 NP_114434.3 kremen protein 1 isoform 2 precursor

KREMEN1 蛋白结构

Kringle

Kringle: Kringle domain (32 - 114)

WSC

WSC: WSC domain (120 - 200)

CUB

CUB: CUB domain (214 - 318)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 473 a.a.
蛋白主名 其他名称

kremen protein 1

dickkopf receptor

重组 KREMEN1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76471 KREMEN1 Protein, Human (HEK293, His) Q96MU8-2/NP_114434.3 (A20-T394) ≥95%

关联疾病

疾病名称 别名
Ectodermal Dysplasia 13, Hair/Tooth Type

ECTD13

Ectodermal Dysplasia 13
Hand, Foot And Mouth Disease

Vesicular Stomatitis And Exanthem
Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal
Osteoporosis-Pseudoglioma Syndrome

OPPG

Ops

Osteoporosis With Pseudoglioma

Osteogenesis Imperfecta, Ocular Form

Ocular Form Of Osteogenesis Imperfecta

Osteogenesis Imperfecta Ocular Form

Osteoporosis Pseudoglioma Syndrome

Pseudoglioma With Bone Fragility
Hyperostosis

Hypertrophy Of Bone

Bone Hypertrophy

Bone Thickening

Periosteum Thickening
Mouth Disease

Mouth Diseases

Mouth Disorders
Schopf-Schulz-Passarge Syndrome

SSPS

Eccrine Tumors With Ectodermal Dysplasia

Eccrine Tumors-Ectodermal Dysplasia

Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome

Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis

Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia And Hypotrichosis
Sclerosteosis 2

SOST2

Sclerosteosis, Type 2
Gapo Syndrome

GAPOS

Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy

Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome

Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy
Van Buchem Disease

Hyperostosis Corticalis Generalisata

Hyperphosphatasemia Tarda

VBCH

Sost-Related Sclerosing Bone Dysplasia

Endosteal Hyperostosis Autosomal Recessive

Sclerosteosis

Endosteal Hyperostosis, Autosomal Recessive

Hyperotosis Corticalis Generalisata Familiaris

Sost Sclerosing Bone Dysplasia

Smith-Lemli-Opitz Syndrome
Sclerosteosis

Cortical Hyperostosis With Syndactyly

Sost

Cortical Hyperostosis-Syndactyly Syndrome
Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth
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-RS07428 KREMEN1 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 KREMEN1 VGNC VGNC:74066
Mus musculus KREMEN1 MGD MGI:1933988
Bos taurus KREMEN1 VGNC VGNC:53911
Felis catus KREMEN1 VGNC VGNC:63167
Rattus norvegicus KREMEN1 RGD RGD:620789
Canis familiaris KREMEN1 VGNC VGNC:42511
Others KREMEN1 NCBI
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