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

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

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

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) 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

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
Others KEL NCBI