1. Gene
  2. ADAM11 - ADAM metallopeptidase domain 11 Gene

ADAM11 - ADAM metallopeptidase domain 11 Gene

中文名称:ADAM 金属肽酶结构域 11

种属: Homo sapiens

同用名: MDC

基因 ID: 4185 | 基因类型: protein coding

关于 ADAM11

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,758,988-44,781,846 (from NCBI)

This gene has 5 transcripts (splice variants), 246 orthologues and 20 paralogues. Biased expression in brain (RPKM 9.4), heart (RPKM 3.1) and 5 other tissues.

功能概要

该基因编码 ADAM (一种解整合素和金属蛋白酶) 蛋白家族的成员。该家族的成员是膜锚定蛋白,在结构上与蛇毒解离蛋白相关,并且涉及涉及细胞-细胞和细胞-基质相互作用的各种生物过程,包括受精、肌肉发育和神经发生。编码的前原蛋白经过蛋白水解处理以产生成熟的蛋白酶。该基因代表人类乳腺癌的候选肿瘤抑制基因,基于其在先前由肿瘤缺失映射定义的染色体 17q21 的最小区域内的位置。可变剪接导致多个转录本变体,其中至少一个编码一种经过蛋白水解处理的亚型。[RefSeq 提供,2016 年 1 月]

This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast Cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

ADAM11 基因产物(2)

mRNA Protein Name
NM_001318933.2 NP_001305862.1 disintegrin and metalloproteinase domain-containing protein 11 isoform 3
NM_002390.6 NP_002381.2 disintegrin and metalloproteinase domain-containing protein 11 isoform 1 preproprotein

ADAM11 蛋白结构

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (46 - 189)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (239 - 438)

Disintegrin

Disintegrin: Disintegrin (453 - 528)

ADAM_CR

ADAM_CR: ADAM cysteine-rich (531 - 645)

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  • 769 a.a.
蛋白主名 其他名称

disintegrin and metalloproteinase domain-containing protein 11

ADAM 11

关联疾病

疾病名称 别名
Epilepsy, Familial Temporal Lobe, 1

ETL1

Adpeaf

Adlte

Epilepsy, Partial, With Auditory Features

Autosomal Dominant Partial Epilepsy With Auditory Features

Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

Familial Temporal Lobe Epilepsy 1

Partial Epilepsy With Auditory Features

Autosomal Dominant Lateral Temporal Lobe Epilepsy

Lateral Temporal Lobe Epilepsy Autosomal Dominant

Epilepsy, Temporal Lobe, Familial, Type 1

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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
Canis familiaris ADAM11 VGNC VGNC:37573
Macaca mulatta ADAM11 VGNC VGNC:69466
Rattus norvegicus ADAM11 RGD RGD:1307515
Bos taurus ADAM11 VGNC VGNC:55768
Mus musculus ADAM11 MGD MGI:1098667
Felis catus ADAM11 VGNC VGNC:59574
Others ADAM11 NCBI