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  2. SOX30 - SRY-box transcription factor 30 Gene

SOX30 - SRY-box transcription factor 30 Gene

中文名称:SRY-box 转录因子 30

种属: Homo sapiens

基因 ID: 11063 | 基因类型: protein coding

关于 SOX30

Cytogenetic location: 5q33.3 Genomic coordinates (GRCh38): 5:157,625,679-157,671,480 (from NCBI)

This gene has 3 transcripts (splice variants), 157 orthologues and 20 paralogues. Restricted expression toward testis (RPKM 26.2).

功能概要

该基因编码参与胚胎发育调控和细胞命运决定的转录因子 SOX (SRY 相关 HMG 盒) 家族成员。编码的蛋白质在与其他蛋白质形成复合物时充当转录调节因子。它可以激活 p53 转录促进肺癌肿瘤细胞凋亡。该蛋白可能参与发育中的雄性生殖细胞的分化。该基因的可变剪接导致多个转录变体。已在 5 号染色体上鉴定出一个相关的假基因。[RefSeq 提供,2015 年 4 月]

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with Other proteins. It can activate p53 transcription to promote tumor cell Apoptosis in lung Cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]

SOX30 基因产物(3)

mRNA Protein Name
NM_001308165.2 NP_001295094.1 transcription factor SOX-30 isoform c
NM_007017.3 NP_008948.1 transcription factor SOX-30 isoform b
NM_178424.2 NP_848511.1 transcription factor SOX-30 isoform a
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 DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
10359848 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
10359848 GOA
enables beta-catenin binding IPI
IPI: 通过物理相互作用推断
29739711 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21516116 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of Wnt signaling pathway IMP
IMP: 通过突变表型推断
29739711 GOA
involved in regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
10359848 GOA
involved in response to corticosteroid IEP
IEP: 通过表达模式推断
18436822 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
29739711 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10359848 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

SOX30 蛋白结构

HMG_box

HMG_box: HMG (high mobility group) box (337 - 404)

  • 0
  • 200
  • 400
  • 600
  • 753 a.a.
蛋白主名 其他名称

transcription factor SOX-30

SRY (sex determining region Y)-box 30

SOX30 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
SOX30 O94993 FLI1 Homo sapiens Q01543
Validated Y2H
25416956
种属内
SOX30 O94993 FLI1 Homo sapiens Q01543
Y2H Prey Pooling
25416956
种属内
SOX30 O94993 AHCYL1 Homo sapiens O43865
Y2H Prey Pooling
25416956
种属内
SOX30 O94993 AHCYL1 Homo sapiens O43865
Validated Y2H
25416956
种属内
SOX30 O94993 FHL2 Homo sapiens Q14192
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
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus SOX30 VGNC VGNC:35148
Rattus norvegicus SOX30 RGD RGD:1586382
Macaca mulatta SOX30 VGNC VGNC:78026
Canis familiaris SOX30 VGNC VGNC:46680
Felis catus SOX30 VGNC VGNC:65582
Mus musculus SOX30 MGD MGI:1341157