2. Gene
  3. KEL - Kell metallo-endopeptidase (Kell blood group) Gene

KEL - Kell metallo-endopeptidase (Kell blood group) Gene

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

中文名称：Kell 金属内肽酶 (Kell 血型)

种属: Homo sapiens

同用名: ECE3; Kell; CD238

基因 ID: 3792 | 基因类型: protein coding

关于 KEL

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:142,941,114-142,962,363 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 143 orthologues, 6 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 20.5), bone marrow (RPKM 20.3) and 2 other tissues.

功能概要

该基因编码一种 II 型跨膜糖蛋白，它是高度多态性的 Kell 血型抗原。 Kell 糖蛋白通过单个二硫键与携带 Kx 抗原的 XK 膜蛋白相连。编码的蛋白质包含与锌内肽酶中性溶酶 (M13) 家族成员的序列和结构相似性。[RefSeq 提供，2008 年 7 月]

This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the Neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]

KEL 基因产物(1)

mRNA Protein Name
NM_000420.3 NP_000411.1 kell blood group glycoprotein
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 metalloendopeptidase activity IDA
IDA: 通过直接分析推断
15769748 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
7737196 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

KEL 蛋白结构

Peptidase_M13_N

Peptidase_M13_N: Peptidase family M13 (100 - 480)

Peptidase_M13

Peptidase_M13: Peptidase family M13 (540 - 730)

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

kell blood group glycoprotein

Kell blood group, metallo-endopeptidase

重组 KEL 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70324 KEL/Kelch-like protein 41 Protein, Human (HEK293, His, solution) P23276 (N68-W732) ≥95%
HY-P70324A KEL/Kelch-like protein 41 Protein, Human (HEK293, C-His) P23276 (N68-W732) ≥95%

关联疾病

疾病名称 别名
Blood Group--Kell System

KEL

Blood Group--Kell-Cellano System

Blood Group, Kell

Kell Blood Group System

Kell Blood Group

Blood Group System, Kell
Mcleod Syndrome

Mcleod Neuroacanthocytosis Syndrome

MLS

X-Linked Mcleod Syndrome

Mcleod Phenotype

Neuroacanthocytosis, Mcleod Type

Mcleod Syndrome With Or Without Chronic Granulomatous Disease

MCLDS

Mcleod Type Neuroacanthocytosis

Mcleod Syndrome With Chronic Granulomatous Disease

Neuroacanthocytosis Mcleod Type

Blood Group Deletion Syndrome
Neuroacanthocytosis

Neuroacanthocytosis Syndrome
Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked
Blood Group Incompatibility
Fetal Erythroblastosis

Erythroblastosis, Fetal

Ef - Erythroblastosis Foetalis

Erythroblastosis Fetalis

Haemolytic Disease Due To Rhesus Isoimmunisation

Rhesus Isoimmunisation Of The Newborn
Neonatal Anemia

Anemia Neonatal

Anemia, Neonatal

Anaemia Neonatal

Neonatal Anaemia
Choreoacanthocytosis

Chorea-Acanthocytosis

CHAC

Acanthocytosis With Neurologic Disorder

Levine-Critchley Syndrome

Choreaacanthocytosis

Chorea Acanthocytosis

Neuroacanthocytosis

Levine-Critchley Syndrome, Formerly

Neuroacanthocytosis, Formerly

Choreo-Acanthocytosis

Acanthocytosis Chorea

Chorea Acanthocytosis Syndrome
Granulomatous Disease, Chronic, X-Linked

CGDX

Chronic Granulomatous Disease, X-Linked

X-Linked Chronic Granulomatous Disease

Cgd

Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked

Cdgx

X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

Granulomatous Disease, Chronic, X-Linked, Variant
Lingual-Facial-Buccal Dyskinesia

Orofacial Dyskinesia

Oro-Facial Dyskinesia

Dyskinesias
Beta-Thalassemia Major

Cooley'S Anemia

Cooley Anemia

Mediterranean Anemia
Hemoglobinopathy

Hemoglobinopathies
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 (8)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-139039 BSJ-4-116 Inhibitor 98.73% 否
HY-145765 JQAD1 98.70% 否
HY-123919 TL13-112 Inhibitor 98.15% 否
HY-122582 TL13-12 Inhibitor 98.06% 否
HY-155962 Tubulin polymerization-IN-47 Inhibitor 99.51% 否
HY-155963 Tubulin polymerization-IN-48 Inhibitor / 否
HY-158062 LC-1-40 / 否
HY-RS07233 KEL Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus KEL RGD RGD:1565470
Canis familiaris KEL VGNC VGNC:42333
Bos taurus KEL VGNC VGNC:30538
Macaca mulatta KEL VGNC VGNC:81628
Mus musculus KEL MGD MGI:1346053
Felis catus KEL VGNC VGNC:80604
Macaca fascicularis KEL NCBI NCBI:102119961
Others KEL NCBI
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