1. Gene
  2. CDY1 - chromodomain Y-linked 1 Gene

CDY1 - chromodomain Y-linked 1 Gene

中文名称:染色体 Y 连锁 1

种属: Homo sapiens

同用名: CDY; CDY1A

基因 ID: 9085 | 基因类型: protein coding

关于 CDY1

Cytogenetic location: Yq11.23 Genomic coordinates (GRCh38): Y:25,622,115-25,625,511 (from NCBI)

This gene has 2 transcripts (splice variants), 132 orthologues, 13 paralogues and is associated with 1 phenotype. Restricted expression toward testis (RPKM 2.1).

功能概要

该基因编码的蛋白质含有一个染色质结构域和一个组蛋白乙酰转移酶催化结构域。染色质域蛋白是异染色质样复合物的成分,可作为基因抑制因子。这种蛋白质定位于发生组蛋白高度乙酰化的晚期精子细胞核。组蛋白高度乙酰化被认为促进鱼精蛋白取代组蛋白成为主要 DNA 包装蛋白的转变。人类 Y 染色体在一个回文区域内有两个相同的该基因拷贝;该记录代表更多的端粒拷贝。 Y 染色体还包含一对位于另一个端粒回文中的密切相关的基因以及几个相关的假基因。两种蛋白质亚型由该基因的转录变体编码。已经描述了其他转录本变体,但尚未确定其全长性质。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein containing a chromodomain and a Histone Acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

CDY1 基因产物(2)

mRNA Protein Name
NM_004680.3 NP_004671.1 testis-specific chromodomain protein Y 1 isoform b
NM_170723.2 NP_733841.1 testis-specific chromodomain protein Y 1 isoform a

CDY1 蛋白结构

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (6 - 57)

ECH_1

ECH_1: Enoyl-CoA hydratase/isomerase (290 - 534)

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  • 540 a.a.
蛋白主名 其他名称

testis-specific chromodomain protein Y 1

chromodomain protein, Y chromosome, 1

关联疾病

疾病名称 别名
Spermatogenic Failure, Y-Linked, 2

SPGFY2

Spermatogenic Failure, Nonobstructive, Y-Linked

Y-Linked Spermatogenic Failure 2

Azoospermia, Nonobstructive, Y-Linked

Oligozoospermia, Nonobstructive, Y-Linked

Oligospermia, Nonobstructive, Y-Linked

Spermatogenic Arrest, Y-Linked

Nonobstructive Y-Linked Spermatogenic Failure

Spermatogenic Failure Y-Linked 2

Azoospermia Non-Obstructive Y-Linked

Non-Obstructive Azoospermia And Infertility

Oligospermia Non-Obstructive Y-Linked

Oligozoospermia Non-Obstructive Y-Linked

Spermatogenic Arrest Y-Linked

Spermatogenic Failure Nonobstructive Y-Linked

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