1. Gene
  2. ADAM23 - ADAM metallopeptidase domain 23 Gene

ADAM23 - ADAM metallopeptidase domain 23 Gene

中文名称:ADAM 金属肽酶结构域 23

种属: Homo sapiens

同用名: MDC3; MDC-3

基因 ID: 8745 | 基因类型: protein coding

关于 ADAM23

Cytogenetic location: 2q33.3 Genomic coordinates (GRCh38): 2:206,443,532-206,621,127 (from NCBI)

This gene has 3 transcripts (splice variants), 215 orthologues and 20 paralogues. Biased expression in brain (RPKM 14.8), heart (RPKM 6.7) and 6 other tissues.

功能概要

该基因编码 ADAM (一种去整合素和金属蛋白酶结构域) 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,并参与涉及细胞-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。据报道,该基因的失活与人类癌症的肿瘤发生有关。[RefSeq 提供,2013 年 5 月]

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) 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. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013]

ADAM23 基因产物(2)

mRNA Protein Name
NM_001410985.1 NP_001397914.1 disintegrin and metalloproteinase domain-containing protein 23 isoform 2 preproprotein
NM_003812.4 NP_003803.1 disintegrin and metalloproteinase domain-containing protein 23 isoform 1 preproprotein
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 protein binding IPI
IPI: 通过物理相互作用推断
20463223 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

ADAM23 蛋白结构

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (130 - 249)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (299 - 496)

Disintegrin

Disintegrin: Disintegrin (511 - 585)

ADAM_CR

ADAM_CR: ADAM cysteine-rich (588 - 708)

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

disintegrin and metalloproteinase domain-containing protein 23

metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3

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

Limbic Encephalitis
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
Bos taurus ADAM23 VGNC VGNC:25609
Canis familiaris ADAM23 VGNC VGNC:37581
Macaca mulatta ADAM23 VGNC VGNC:69484
Rattus norvegicus ADAM23 RGD RGD:1305739
Felis catus ADAM23 VGNC VGNC:59581
Mus musculus ADAM23 MGD MGI:1345162
Others ADAM23 NCBI