PRDM9 - PR/SET domain 9 Gene

中文名称：PR/SET 域 9

种属: Homo sapiens

同用名: PFM6; KMT8B; MSBP3; ZNF899; MEISETZ

基因 ID: 56979 | 基因类型: protein coding

关于 PRDM9

Cytogenetic location: 5p14.2 Genomic coordinates (GRCh38): 5:23,507,155-23,528,093 (from NCBI)

This gene has 3 transcripts (splice variants), 74 orthologues and 62 paralogues. Restricted expression toward testis (RPKM 2.2).

功能概要

该基因编码的蛋白质是一种锌指蛋白，具有组蛋白甲基转移酶活性，可在减数分裂前期催化组蛋白 H3 赖氨酸 4 三甲基化 (H3K4me3) 。该蛋白包含多个结构域，包括一个 Kruppel 相关框 (KRAB) 结构域、一个 SSX 抑制结构域 (SSXRD) 、一个 PRD1-BF1 和 RIZ 同源区域、一个 SET (PR/SET) 结构域的子类，以及一个串联阵列 C2H2 锌指。锌指阵列识别短序列基序，导致局部 H3K4me3 和减数分裂重组热点活动。观察到的等位基因变异改变了蛋白质的 DNA 结合序列特异性，导致个体和种群之间出现明显的减数分裂重组热点。已经描述了该基因的多个替代等位基因。[RefSeq 提供，2015 年 7 月]

The protein encoded by this gene is a Zinc Finger Protein with Histone Methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein contains multiple domains, including a Kruppel-associated box (KRAB) domain, an SSX repression domain (SSXRD), a PRD1-BF1 and RIZ homologous region, a subclass of SET (PR/SET) domain, and a tandem array of C2H2 zinc fingers. The zinc finger array recognizes a short sequence motif, leading to local H3K4me3, and meiotic recombination hotspot activity. The observed allelic variation alters the DNA-binding sequence specificity of the protein, resulting in distinct meiotic recombination hotspots amongst individuals and populations. Multiple alternate alleles of this gene have been described. [provided by RefSeq, Jul 2015]

PRDM9 基因产物(3)

mRNA	Protein	Name
NM_001310214.3	NP_001297143.1	histone-lysine N-methyltransferase PRDM9 isoform PRDM9 A
NM_001376900.1	NP_001363829.1	histone-lysine N-methyltransferase PRDM9 isoform PRDM9 B
NM_020227.4	NP_064612.2	histone-lysine N-methyltransferase PRDM9 isoform PRDM9 B

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 histone H3K36 methyltransferase activity	IMP IMP: 通过突变表型推断	24634223	GOA
enables histone H3K4 methyltransferase activity	IDA IDA: 通过直接分析推断	24095733	GOA
enables histone H3K4 methyltransferase activity	IMP IMP: 通过突变表型推断	24634223	GOA
enables recombination hotspot binding	IDA IDA: 通过直接分析推断	26833727	GOA
enables recombination hotspot binding	IMP IMP: 通过突变表型推断	20044539	GOA
enables transcription cis-regulatory region binding	IMP IMP: 通过突变表型推断	29072575	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within meiotic gene conversion	IDA IDA: 通过直接分析推断	21750151	GOA
acts upstream of or within positive regulation of reciprocal meiotic recombination	IMP IMP: 通过突变表型推断	21750151	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

PRDM9 蛋白结构

KRAB

SSXRD

zf-H2C2_2

0
200
400
600
800
894 a.a.

蛋白主名

其他名称

histone-lysine N-methyltransferase PRDM9

PR domain 9

关联疾病

疾病名称

别名

Genetic Non-Acquired Premature Ovarian Failure

Spastic Paraplegia 4, Autosomal Dominant

SPG4	Hereditary Spastic Paraplegia 4
Fsp2	Autosomal Dominant Spastic Paraplegia Type 4
Familial Spastic Paraplegia, Autosomal Dominant, 2	Autosomal Dominant Spastic Paraplegia 4
Familial Spastic Paraplegia Autosomal Dominant 2	Paraplegia, Spastic, Autosomal Dominant, Type 4

Haverhill Fever

Streptobacillosis	Streptobacillary Rat-Bite Fever
Streptobacillary Fever	Rat-Bite Fever Due To Streptobacillus Moniliformis
Erythema Arthriticum Epidemicum	Epidemic Arthritic Erythema

Spastic Paraplegia 24, Autosomal Recessive

SPG24	Spastic Paraplegia 24
Hereditary Spastic Paraplegia 24	Autosomal Recessive Spastic Paraplegia Type 24
Autosomal Recessive Spastic Paraplegia 24

Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR	Alacrima, Achalasia, And Intellectual Disability Syndrome
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Intellectual Disability

Male Infertility

Infertility, Male	Infertility Male
Male Sterility	Absolute Infertility

Neuropathy, Hereditary, With Liability To Pressure Palsies

Tomaculous Neuropathy	Hereditary Neuropathy With Liability To Pressure Palsies
HNPP	Polyneuropathy, Familial Recurrent
Neuropathy, Recurrent, With Pressure Palsies	Current Pressure-Sensitive Neuropathy
Familial Recurrent Polyneuropathy	Heterozygous Microdeletion 17p11.2p12
Potato-Grubbing Palsy	Tulip-Bulb Digger'S Palsy
Compression Neuropathy	Entrapment Neuropathy
Familial Pressure Sensitive Neuropathy	Hereditary Motor And Sensory Neuropathy
Hereditary Pressure Sensitive Neuropathy	Inherited Tendency To Pressure Palsies
Hereditary Liability To Pressure Palsies	Nerve Compression Syndrome
Entrapment Neuropathies	Hereditary Motor And Sensory Neuropathies

Potocki-Lupski Syndrome

PTLS	Chromosome 17p11.2 Duplication Syndrome
17p11.2 Microduplication Syndrome	Duplication 17p11.2 Syndrome
Trisomy 17p11.2	Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
17p11.2 Duplication Syndrome	Dup(17)(P11.2p11.2)
Pls	Chromosome 17, Trisomy 17p11 2

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-114209	MRK-740	Inhibitor	99.84%	否
HY-RS11073	PRDM9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS19230	Prdm9 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS25719	Prdm9 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	PRDM9	MGD	MGI:2384854
Rattus norvegicus	PRDM9	RGD	RGD:1305247

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