MAGEA6 - MAGE family member A6 Gene

中文名称：MAGE 家族成员 A6

种属: Homo sapiens

同用名: CT1.6; MAGE6; MAGE3B; MAGE-3b

基因 ID: 4105 | 基因类型: protein coding

关于 MAGEA6

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:152,766,136-152,769,689 (from NCBI)

This gene has 4 transcripts (splice variants), 302 orthologues and 37 paralogues. Restricted expression toward testis (RPKM 6.4).

功能概要

该基因是 MAGEA 基因家族的成员。这个家族的成员编码的蛋白质彼此之间有 50% 到 80% 的序列同一性。 MAGEA 基因的启动子和第一个外显子显示出相当大的变异性，表明该基因家族的存在使得相同的功能能够在不同的转录控制下表达。 MAGEA 基因聚集在染色体位置 Xq28。它们与某些遗传性疾病有关，例如先天性角化不良。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 8 月]

This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

MAGEA6 基因产物(2)

mRNA	Protein	Name
NM_005363.5	NP_005354.1	melanoma-associated antigen 6
NM_175868.4	NP_787064.1	melanoma-associated antigen 6

基因本体论

分子功能
生物过程

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	20864041	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of autophagy	IDA IDA: 通过直接分析推断	31267705	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

MAGEA6 蛋白结构

MAGE_N

MAGE

0
100
200
314 a.a.

蛋白主名

其他名称

melanoma-associated antigen 6

MAGE-6 antigen

MAGEA6 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	MAGEA6	P43360	MID2	Homo sapiens	Q9UJV3-2	Validated Y2H	32296183
Intra	MAGEA6	P43360	IQUB	Homo sapiens	Q8NA54	Validated Y2H	25416956
Intra	MAGEA6	P43360	IQUB	Homo sapiens	Q8NA54	Y2H Array	25416956
Intra	MAGEA6	P43360	BFSP2	Homo sapiens	Q13515	Validated Y2H	32296183
Intra	MAGEA6	P43360	CTF1	Homo sapiens	Q16619	Validated Y2H	25416956
Intra	MAGEA6	P43360	CTF1	Homo sapiens	Q16619	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	CTF1	Homo sapiens	Q16619	Y2H Array	25416956
Intra	MAGEA6	P43360	SNAP47	Homo sapiens	Q5SQN1	Validated Y2H	25416956
Intra	MAGEA6	P43360	SNAP47	Homo sapiens	Q5SQN1	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	SNAP47	Homo sapiens	Q5SQN1	Y2H Array	25416956
Intra	MAGEA6	P43360	FRMPD1	Homo sapiens	Q5SYB0	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	FRMPD1	Homo sapiens	Q5SYB0	Y2H Array	25416956
Intra	MAGEA6	P43360	CCDC146	Homo sapiens	Q8IYE0-2	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	CCDC146	Homo sapiens	Q8IYE0-2	Validated Y2H	25416956
Intra	MAGEA6	P43360	ELMOD3	Homo sapiens	Q96FG2	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	ELMOD3	Homo sapiens	Q96FG2	Validated Y2H	25416956
Intra	MAGEA6	P43360	CCDC146	Homo sapiens	Q8IYE0	Validated Y2H	32296183
Intra	MAGEA6	P43360	CCDC24	Homo sapiens	Q8N4L8	Validated Y2H	32296183
Intra	MAGEA6	P43360	ATPAF2	Homo sapiens	Q8N5M1	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	ATPAF2	Homo sapiens	Q8N5M1	Validated Y2H	32296183
Intra	MAGEA6	P43360	DLGAP4	Homo sapiens	Q9Y2H0-1	Validated Y2H	32296183
Intra	MAGEA6	P43360	TSPYL6	Homo sapiens	Q8N831	Validated Y2H	32296183
Intra	MAGEA6	P43360	BOLA3	Homo sapiens	Q53S33	Validated Y2H	32296183
Intra	MAGEA6	P43360	LCORL	Homo sapiens	Q8N3X6-3	Validated Y2H	32296183
Intra	MAGEA6	P43360	CTF1	Homo sapiens	Q16619-2	Validated Y2H	32296183
Intra	MAGEA6	P43360	NOSTRIN	Homo sapiens	Q8IVI9-3	Validated Y2H	32296183
Intra	MAGEA6	P43360	q9bs57_human	Homo sapiens	Q9BS57	Validated Y2H	32296183
Intra	MAGEA6	P43360	LIN52	Homo sapiens	Q52LA3	Validated Y2H	32296183
Intra	MAGEA6	P43360	MGC50722	Homo sapiens	Q8IVT4	Validated Y2H	32296183
Intra	MAGEA6	P43360	RCOR3	Homo sapiens	Q9P2K3-2	Validated Y2H	32296183
Intra	MAGEA6	P43360	PDE4D	Homo sapiens	Q08499	Y2H Array	25416956
Intra	MAGEA6	P43360	PDE4D	Homo sapiens	Q08499	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	q6zrv7_human	Homo sapiens	Q6ZRV7	Validated Y2H	32296183
Intra	MAGEA6	P43360	TRIM26	Homo sapiens	Q12899	Validated Y2H	32296183
Intra	MAGEA6	P43360	HAUS1	Homo sapiens	Q96CS2	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	HAUS1	Homo sapiens	Q96CS2	Y2H Array	25416956
Intra	MAGEA6	P43360	MIPOL1	Homo sapiens	Q8TD10	Validated Y2H	32296183
Intra	MAGEA6	P43360	MIPOL1	Homo sapiens	Q8TD10	Y2H Array	25416956
Intra	MAGEA6	P43360	BCL7B	Homo sapiens	Q9BQE9	Validated Y2H	25416956
Intra	MAGEA6	P43360	BCL7B	Homo sapiens	Q9BQE9	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	BCL7B	Homo sapiens	Q9BQE9	Validated Y2H	32296183
Intra	MAGEA6	P43360	DCTN1	Homo sapiens	Q14203-5	Y2H Array	32814053
Intra	MAGEA6	P43360	DCTN1	Homo sapiens	Q14203-5	Y2H Pooling	32814053
Intra	MAGEA6	P43360	DCTN1	Homo sapiens	Q14203-5	Validated Y2H	32814053
Intra	MAGEA6	P43360	DNTTIP1	Homo sapiens	Q9H147	Validated Y2H	32296183
Intra	MAGEA6	P43360	ATOSA	Homo sapiens	Q32MH5	Validated Y2H	25416956
Intra	MAGEA6	P43360	ATOSA	Homo sapiens	Q32MH5	Y2H Array	25416956
Intra	MAGEA6	P43360	ACTN3	Homo sapiens	Q08043	Validated Y2H	32296183
Intra	MAGEA6	P43360	RASSF4	Homo sapiens	Q9H2L5	Validated Y2H	25416956
Intra	MAGEA6	P43360	RASSF4	Homo sapiens	Q9H2L5	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	RASSF4	Homo sapiens	Q9H2L5	Y2H Array	25416956
Intra	MAGEA6	P43360	RASSF4	Homo sapiens	Q9H2L5	Validated Y2H	32296183
Intra	MAGEA6	P43360	LSM2	Homo sapiens	Q9Y333	Y2H Array	25416956
Intra	MAGEA6	P43360	LSM2	Homo sapiens	Q9Y333	Validated Y2H	32296183
Intra	MAGEA6	P43360	MCRS1	Homo sapiens	Q96EZ8	Validated Y2H	32296183
Intra	MAGEA6	P43360	RPL37A	Homo sapiens	P61513	Validated Y2H	25416956
Intra	MAGEA6	P43360	RPL37A	Homo sapiens	P61513	Validated Y2H	32296183
Intra	MAGEA6	P43360	SMARCD1	Homo sapiens	Q96GM5	Validated Y2H	32296183
Intra	MAGEA6	P43360	GADD45GIP1	Homo sapiens	Q8TAE8	Validated Y2H	32296183
Intra	MAGEA6	P43360	HNRNPM	Homo sapiens	P52272	Validated Y2H	32296183
Intra	MAGEA6	P43360	TULP3	Homo sapiens	O75386	Y2H Array	31515488
Intra	MAGEA6	P43360	TULP3	Homo sapiens	O75386	Y2H Array	25416956
Intra	MAGEA6	P43360	RUSC1	Homo sapiens	Q9BVN2	Validated Y2H	32296183
Intra	MAGEA6	P43360	PCBD2	Homo sapiens	Q9H0N5	Validated Y2H	32296183
Intra	MAGEA6	P43360	KLHL38	Homo sapiens	Q2WGJ6	Y2H Array	25416956
Intra	MAGEA6	P43360	KLHL38	Homo sapiens	Q2WGJ6	Validated Y2H	25416956
Intra	MAGEA6	P43360	KLHL38	Homo sapiens	Q2WGJ6	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	KLHL38	Homo sapiens	Q2WGJ6	Validated Y2H	32296183
Intra	MAGEA6	P43360	TXNDC9	Homo sapiens	O14530	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	TXNDC9	Homo sapiens	O14530	Validated Y2H	25416956
Intra	MAGEA6	P43360	TXNDC9	Homo sapiens	O14530	Y2H Array	25416956
Intra	MAGEA6	P43360	TXNDC9	Homo sapiens	O14530	Y2H	21516116
Intra	MAGEA6	P43360	ATP6V1G1	Homo sapiens	O75348	Y2H Array	25416956
Intra	MAGEA6	P43360	NCK2	Homo sapiens	O43639	Validated Y2H	25416956
Intra	MAGEA6	P43360	NCK2	Homo sapiens	O43639	Y2H Array	25416956
Intra	MAGEA6	P43360	LCORL	Homo sapiens	Q8N3X6	Validated Y2H	25416956
Intra	MAGEA6	P43360	STX5	Homo sapiens	Q13190	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	STX5	Homo sapiens	Q13190	Y2H Array	25416956
Intra	MAGEA6	P43360	XRCC4	Homo sapiens	Q13426	Validated Y2H	32296183
Intra	MAGEA6	P43360	SNX4	Homo sapiens	O95219	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	CCDC185	Homo sapiens	Q8N715	Validated Y2H	32296183
Intra	MAGEA6	P43360	STAMBPL1	Homo sapiens	Q96FJ0	Validated Y2H	25416956
Intra	MAGEA6	P43360	STAMBPL1	Homo sapiens	Q96FJ0	Validated Y2H	32296183
Intra	MAGEA6	P43360	REX1BD	Homo sapiens	Q96EN9	Validated Y2H	32296183
Intra	MAGEA6	P43360	SH2D4A	Homo sapiens	Q9H788	Validated Y2H	25416956
Intra	MAGEA6	P43360	SH2D4A	Homo sapiens	Q9H788	Validated Y2H	32296183
Intra	MAGEA6	P43360	SH2D4A	Homo sapiens	Q9H788	Y2H Array	25416956
Intra	MAGEA6	P43360	C1orf216	Homo sapiens	Q8TAB5	Validated Y2H	32296183
Intra	MAGEA6	P43360	LIN37	Homo sapiens	Q96GY3	Y2H Array	25416956
Intra	MAGEA6	P43360	LIN37	Homo sapiens	Q96GY3	Validated Y2H	25416956
Intra	MAGEA6	P43360	LIN37	Homo sapiens	Q96GY3	Validated Y2H	32296183
Intra	MAGEA6	P43360	BET1	Homo sapiens	O15155	Y2H Array	25416956
Intra	MAGEA6	P43360	TRIM28	Homo sapiens	Q13263	TAP	20864041
Intra	MAGEA6	P43360	KIF27	Homo sapiens	Q86VH2	Validated Y2H	32296183
Intra	MAGEA6	P43360	GFOD1	Homo sapiens	Q9NXC2	Validated Y2H	25416956
Intra	MAGEA6	P43360	GFOD1	Homo sapiens	Q9NXC2	Validated Y2H	32296183
Intra	MAGEA6	P43360	GFOD1	Homo sapiens	Q9NXC2	Y2H Array	25416956
Intra	MAGEA6	P43360	GFOD1	Homo sapiens	Q9NXC2	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	ACOT7	Homo sapiens	O00154	Y2H Array	25416956
Intra	MAGEA6	P43360	EXOC5	Homo sapiens	O00471	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	EXOC5	Homo sapiens	O00471	Validated Y2H	25416956
Intra	MAGEA6	P43360	EXOC5	Homo sapiens	O00471	Y2H Array	25416956
Intra	MAGEA6	P43360	AKAP9	Homo sapiens	Q99996-2	Y2H Array	25416956
Intra	MAGEA6	P43360	AKAP9	Homo sapiens	Q99996-2	Y2H Prey Pooling	25416956
Intra	MAGEA6	P43360	MORN3	Homo sapiens	Q6PF18	Validated Y2H	25416956
Intra	MAGEA6	P43360	MORN3	Homo sapiens	Q6PF18	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

Terminal Osseous Dysplasia

Terminal Osseous Dysplasia And Pigmentary Defects	Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Todpd	TOD
Odpd	Odpf Syndrome
Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula	Odpf
Digital Osseous Dysplasia With Facial Pigmentary Defects And Multiple Frenula	Terminal Osseous Dysplasia With Pigmentary Defects
Dcd	Digitocutaneous Dysplasia
Terminal Osseous Dysplasia And Pigmentary Defect Syndrome	Osseous Dysplasia And Pigmentary Defects

Transitional Papilloma

Transitional Cell Papilloma

Transitional Cell Papilloma, Benign

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Cold-Induced Sweating Syndrome

Crisponi Syndrome	Sohar-Crisponi Syndrome
Ciss	Cntf Receptor-Related Disorders
Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death	Sweating Syndrome, Cold-Induced

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

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