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  2. TSPYL1 - TSPY like 1 Gene

TSPYL1 - TSPY like 1 Gene

中文名称:样 1

种属: Homo sapiens

同用名: TSPYL

基因 ID: 7259 | 基因类型: protein coding

关于 TSPYL1

Cytogenetic location: 6q22.1 Genomic coordinates (GRCh38): 6:116,274,858-116,279,930 (from NCBI)

This gene has 2 transcripts (splice variants), 232 orthologues, 18 paralogues and is associated with 2 phenotypes.

功能概要

由该基因编码的蛋白质存在于核仁中,类似于 Y 染色体上的一个基因家族。这个基因是无内含子的。该基因的缺陷是导致婴儿猝死并伴有睾丸发育不全综合征 (SIDDT) 的原因。[RefSeq 提供,2009 年 12 月]

The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]

TSPYL1 基因产物(1)

mRNA Protein Name
NM_003309.4 NP_003300.1 testis-specific Y-encoded-like protein 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables enzyme binding IPI
IPI: 通过物理相互作用推断
23382074 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

TSPYL1 蛋白结构

NAP

NAP: Nucleosome assembly protein (NAP) (228 - 409)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 437 a.a.
蛋白主名 其他名称

testis-specific Y-encoded-like protein 1

TSPY-like protein 1

关联疾病

疾病名称 别名
Sudden Infant Death With Dysgenesis Of The Testes Syndrome

SIDDT

Sudden Infant Death-Dysgenesis Of The Testes Syndrome

Sudden Infant Death - Dysgenesis Of The Testes

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Mixed Germ Cell-Sex Cord Neoplasm

Mixed Germ Cell-Sex Cord-Stromal Tumor

Mixed Germ Cell-Sex Cord Tumor

Yunis-Varon Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Yunis Varon Syndrome

YVS

Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome

Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia

Yunis-Varón Syndrome

Fetal Hemoglobin Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin

Delta-Beta-Thalassemia

Delta-Beta Thalassemia

Delta Beta-Thalassemia

HBFQTL1

Hemoglobin F, Hereditary Persistence Of

Hpfh

Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related

Hemoglobin, Fetal, Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin Thalassemia

Hpfh - [Hereditary Persistence Of Fetal Haemoglobin]

Fetal Haemoglobin

Persistence Of Fetal Haemoglobin

Persistent Haemoglobin F

Gastroesophageal Reflux

Gastroesophageal Reflux Disease

Gerd

GER

Gastroesophageal Reflux, Pediatric

Acid Reflux

Gastresophageal Reflux

Gastro-Esophageal Reflux

Gerd - Gastro-Esophageal Reflux Disease

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
Rattus norvegicus TSPYL1 RGD RGD:1307726
Mus musculus TSPYL1 MGD MGI:1298395
Bos taurus TSPYL1 VGNC VGNC:53811
Macaca mulatta TSPYL1 VGNC VGNC:104437