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  2. MAGED1 - MAGE family member D1 Gene

MAGED1 - MAGE family member D1 Gene

中文名称:MAGE 家族成员 D1

种属: Homo sapiens

同用名: NRAGE; DLXIN-1

基因 ID: 9500 | 基因类型: protein coding

关于 MAGED1

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:51,803,076-51,902,354 (from NCBI)

This gene has 10 transcripts (splice variants), 177 orthologues and 37 paralogues. Ubiquitous expression in brain (RPKM 56.4), placenta (RPKM 55.0) and 25 other tissues.

功能概要

该基因是黑色素瘤抗原基因 (MAGE) 家族的成员。这个家族的大多数基因编码肿瘤特异性抗原,这些抗原在除睾丸外的正常成人组织中不表达。尽管该基因编码的蛋白质与 MAGE 家族成员具有很强的同源性,但它在几乎所有正常成人组织中都有表达。该基因已被证明参与 p75 神经营养蛋白受体介导的程序性细胞死亡途径。已发现该基因编码两种不同亚型的三种转录变体。[RefSeq 提供,2008 年 7 月]

This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MAGED1 基因产物(3)

mRNA Protein Name
NM_001005332.2 NP_001005332.1 melanoma-associated antigen D1 isoform b
NM_001005333.2 NP_001005333.1 melanoma-associated antigen D1 isoform a
NM_006986.4 NP_008917.3 melanoma-associated antigen D1 isoform b

MAGED1 蛋白结构

MAGE

MAGE: MAGE family (478 - 647)

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

melanoma-associated antigen D1

MAGE tumor antigen CCF

关联疾病

疾病名称 别名
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Schaaf-Yang Syndrome

Prader-Willi-Like Syndrome

Chitayat-Hall Syndrome

SHFYNG

Pwls

Magel2-Related Prader-Willi-Like Syndrome

Magel2-Related Pwls

Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies

Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial A

Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial Anomalies

Pws Due To A Point Mutation

Pws Due To Point Mutation

Prader-Willi Syndrome Due To A Point Mutation

Prader-Willi Syndrome Due To Point Mutation

Pws-Like

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
Mus musculus MAGED1 MGD MGI:1930187
Canis familiaris MAGED1 VGNC VGNC:42924
Bos taurus MAGED1 VGNC VGNC:55062
Rattus norvegicus MAGED1 RGD RGD:70898
Macaca mulatta MAGED1 VGNC VGNC:74479