1. Gene
  2. CBLB - Cbl proto-oncogene B Gene

CBLB - Cbl proto-oncogene B Gene

中文名称:Cbl 原癌基因 B

种属: Homo sapiens

同用名: Cbl-b; RNF56; Nbla00127

基因 ID: 868 | 基因类型: protein coding

关于 CBLB

Cytogenetic location: 3q13.11 Genomic coordinates (GRCh38): 3:105,655,461-105,869,449 (from NCBI)

This gene has 17 transcripts (splice variants), 194 orthologues, 2 paralogues and is associated with 82 phenotypes. Ubiquitous expression in lymph node (RPKM 6.7), gall bladder (RPKM 4.7) and 25 other tissues.

功能概要

该基因编码一种 E3 泛素蛋白连接酶,该连接酶通过将泛素从 E2 泛素结合酶转移到底物来促进蛋白体介导的蛋白质降解。编码的蛋白质通过限制 T 细胞受体、B 细胞受体和高亲和力免疫球蛋白 epsilon 受体激活来参与免疫反应的调节。对小鼠的研究表明,该基因参与抗真菌宿主防御,其抑制会导致真菌杀灭增加。操纵该基因可能有利于针对多种病症实施免疫疗法,包括癌症、自身免疫性疾病、过敏和感染。[RefSeq 提供,2017 年 9 月]

This gene encodes an E3 ubiquitin-protein Ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating Enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in Antifungal host defense and that its inhibition leads to increased Fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including Cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]

CBLB 基因产物(21)

mRNA Protein Name
NM_001321786.1 NP_001308715.1 E3 ubiquitin-protein ligase CBL-B isoform a
NM_001321788.2 NP_001308717.1 E3 ubiquitin-protein ligase CBL-B isoform b
NM_001321789.1 NP_001308718.1 E3 ubiquitin-protein ligase CBL-B isoform c
NM_001321790.2 NP_001308719.1 E3 ubiquitin-protein ligase CBL-B isoform d
NM_001321791.2 NP_001308720.1 E3 ubiquitin-protein ligase CBL-B isoform e
NM_001321793.2 NP_001308722.1 E3 ubiquitin-protein ligase CBL-B isoform e
NM_001321794.2 NP_001308723.1 E3 ubiquitin-protein ligase CBL-B isoform f
NM_001321795.2 NP_001308724.1 E3 ubiquitin-protein ligase CBL-B isoform f
NM_001321796.2 NP_001308725.1 E3 ubiquitin-protein ligase CBL-B isoform g
NM_001321797.2 NP_001308726.1 E3 ubiquitin-protein ligase CBL-B isoform h
NM_001321798.2 NP_001308727.1 E3 ubiquitin-protein ligase CBL-B isoform h
NM_001321799.2 NP_001308728.1 E3 ubiquitin-protein ligase CBL-B isoform i
NM_001321806.2 NP_001308735.1 E3 ubiquitin-protein ligase CBL-B isoform j
NM_001321807.2 NP_001308736.1 E3 ubiquitin-protein ligase CBL-B isoform j
NM_001321808.2 NP_001308737.1 E3 ubiquitin-protein ligase CBL-B isoform k
NM_001321811.2 NP_001308740.1 E3 ubiquitin-protein ligase CBL-B isoform l
NM_001321813.1 NP_001308742.1 E3 ubiquitin-protein ligase CBL-B isoform l
NM_001321816.2 NP_001308745.1 E3 ubiquitin-protein ligase CBL-B isoform m
NM_001321820.2 NP_001308749.1 E3 ubiquitin-protein ligase CBL-B isoform n
NM_001321822.2 NP_001308751.1 E3 ubiquitin-protein ligase CBL-B isoform o
NM_170662.5 NP_733762.2 E3 ubiquitin-protein ligase CBL-B isoform b

CBLB 蛋白结构

Cbl_N

Cbl_N: CBL proto-oncogene N-terminal domain 1 (39 - 168)

Cbl_N2

Cbl_N2: CBL proto-oncogene N-terminus, EF hand-like domain (171 - 254)

Cbl_N3

Cbl_N3: CBL proto-oncogene N-terminus, SH2-like domain (256 - 341)

zf-C3HC4_3

zf-C3HC4_3: Zinc finger, C3HC4 type (RING finger) (372 - 416)

UBA

UBA: UBA/TS-N domain (934 - 964)

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蛋白主名 其他名称

E3 ubiquitin-protein ligase CBL-B

Cas-Br-M (murine) ecotropic retroviral transforming sequence b

关联疾病

疾病名称 别名
Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic

JMML

Leukemia, Juvenile Myelomonocytic, Somatic

Juvenile Chronic Myelomonocytic Leukemia

Juvenile Chronic Myelogenous Leukemia

Leukemia, Myelomonocytic, Juvenile

Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

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
Felis catus CBLB VGNC VGNC:60421
Macaca mulatta CBLB VGNC VGNC:70555
Bos taurus CBLB VGNC VGNC:26809
Mus musculus CBLB MGD MGI:2146430
Rattus norvegicus CBLB RGD RGD:620535
Canis familiaris CBLB VGNC VGNC:38759