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  2. SYCP3 - synaptonemal complex protein 3 Gene

SYCP3 - synaptonemal complex protein 3 Gene

中文名称:联会复合蛋白 3

种属: Homo sapiens

同用名: COR1; SCP3; SPGF4; RPRGL4

基因 ID: 50511 | 基因类型: protein coding

关于 SYCP3

Cytogenetic location: 12q23.2 Genomic coordinates (GRCh38): 12:101,728,648-101,739,462 (from NCBI)

This gene has 5 transcripts (splice variants), 327 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 35.2), duodenum (RPKM 4.0) and 14 other tissues.

功能概要

该基因编码联会复合体的重要结构成分。该复合体参与减数分裂染色体的联会、重组和分离。该基因的突变与男性的无精症和女性的流产易感性有关。交替剪接导致编码相同蛋白质的多个转录变体。[RefSeq 提供,2010 年 5 月]

This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]

SYCP3 基因产物(3)

mRNA Protein Name
NM_001177948.2 NP_001171419.1 synaptonemal complex protein 3
NM_001177949.2 NP_001171420.1 synaptonemal complex protein 3
NM_153694.5 NP_710161.1 synaptonemal complex protein 3
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in sperm DNA condensation IMP
IMP: 通过突变表型推断
14643120 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
22899867 GOA
located in synaptonemal complex IDA
IDA: 通过直接分析推断
9774970 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

SYCP3 蛋白结构

Cor1

Cor1: Cor1/Xlr/Xmr conserved region (82 - 211)

  • 0
  • 100
  • 200
  • 236 a.a.
蛋白主名 其他名称

synaptonemal complex protein 3

SYCP3 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
种属内
SYCP3 Q8IZU3 BLK Homo sapiens P51451
Anti Tag CoIP
33961781
种属内
SYCP3 Q8IZU3 BLK Homo sapiens P51451
Anti Tag CoIP
28514442
种属内
SYCP3 Q8IZU3 NXF1 Homo sapiens Q9UBU9
Validated Y2H
32296183
种属内
SYCP3 Q8IZU3 C14orf119 Homo sapiens Q9NWQ9
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
Spermatogenic Failure 4

Spermatogenesis Arrest

SPGF4

Azoospermia Due To Perturbations Of Meiosis

Azoospermia With Maturation Arrest

Pregnancy Loss, Recurrent, 4

Arrest Of Spermatogenesis

RPRGL4

Recurrent Pregnancy Loss 4

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Branchiootorenal Syndrome 2

BOR2

Bor Syndrome 2

Branchiootorenal Dysplasia 2

Branchio-Oto-Renal Dysplasia 2

Branchio-Oto-Renal Syndrome Type 2

Branchiootorenal Syndrome, Type 2

Infertility
Spermatogenic Failure, X-Linked, 1

Sertoli Cell-Only Syndrome

Germinal Cell Aplasia

Del Castillo Syndrome

SPGFX1

X-Linked Spermatogenic Failure 1

Congenital Absence Of Germinal Epithelium Of Testes

Gemistocytic Astrocytoma

Gemistocytic Astrocytic Tumor

Autoimmune Cardiomyopathy
Spermatogenic Failure 10

SPGF10

Spermatogenic Failure With Defective Sperm Annulus

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Oligospermia
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

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 SYCP3 MGD MGI:109542
Rattus norvegicus SYCP3 RGD RGD:3795
Bos taurus SYCP3 VGNC VGNC:56229