1. Gene
  2. CITED1 - Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 Gene

CITED1 - Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 Gene

中文名称:Cbp/p300 与富 Glu/Asp 的羧基末端结构域 1 相互作用的反式激活因子

种属: Homo sapiens

同用名: MSG1

基因 ID: 4435 | 基因类型: protein coding

关于 CITED1

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:72,301,646-72,307,157 (from NCBI)

This gene has 11 transcripts (splice variants), 163 orthologues and 2 paralogues. Restricted expression toward testis (RPKM 42.2).

功能概要

该基因编码 CREB 结合蛋白/p300 相互作用反式激活因子与富含 Asp/Glu 的 C 末端结构域 (CITED) 蛋白家族的成员。编码的蛋白质,也称为黑色素细胞特异性基因 1,可能作为转录共激活因子发挥作用,并可能在黑色素细胞的色素沉着中发挥作用。已经描述了选择性剪接的转录物变体。[RefSeq 提供,2009 年 1 月]

This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

CITED1 基因产物(4)

mRNA Protein Name
NM_001144885.2 NP_001138357.1 cbp/p300-interacting transactivator 1 isoform 2
NM_001144886.2 NP_001138358.1 cbp/p300-interacting transactivator 1 isoform 1
NM_001144887.2 NP_001138359.1 cbp/p300-interacting transactivator 1 isoform 1
NM_004143.4 NP_004134.2 cbp/p300-interacting transactivator 1 isoform 1
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 LBD domain binding IDA
IDA: 通过直接分析推断
11581164 GOA
enables co-SMAD binding IPI
IPI: 通过物理相互作用推断
9707553 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9707553 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
21172805 GOA
enables transcription coactivator activity IDA
IDA: 通过直接分析推断
9707553 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in SMAD protein signal transduction IDA
IDA: 通过直接分析推断
9707553 GOA
involved in melanocyte differentiation IEP
IEP: 通过表达模式推断
8901575 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
11581164 GOA
involved in negative regulation of neuron apoptotic process IDA
IDA: 通过直接分析推断
21172805 GOA
involved in nucleocytoplasmic transport IDA
IDA: 通过直接分析推断
16864582 GOA
involved in pigmentation IEP
IEP: 通过表达模式推断
8901575 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
9434189 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
21172805 GOA
involved in regulation of apoptotic process IDA
IDA: 通过直接分析推断
21172805 GOA
involved in response to estrogen IDA
IDA: 通过直接分析推断
11581164 GOA
involved in response to transforming growth factor beta IDA
IDA: 通过直接分析推断
9707553 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
9707553 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
16864582 GOA
located in cytosol IDA
IDA: 通过直接分析推断
16864582 GOA
located in nucleus IDA
IDA: 通过直接分析推断
8901575 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

CITED1 蛋白结构

CITED

CITED: CITED (1 - 191)

  • 0
  • 100
  • 193 a.a.
蛋白主名 其他名称

cbp/p300-interacting transactivator 1

melanocyte-specific gene 1

CITED1 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
CITED1 Q99966 ESR1 Homo sapiens P03372
Anti Tag CoIP
11581164
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
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Renal Hypoplasia
Thyroid Gland Follicular Carcinoma

Follicular Thyroid Carcinoma

Follicular Adenocarcinoma

Follicular Adenocarcinoma, Well Differentiated

Follicular Carcinoma

Thyroid Adenocarcinoma

Adenocarcinoma, Follicular

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome

WTS

Mrxs6

X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

Mrxswt

Wilson-Turner X-Linked Mental Retardation Syndrome

Mental Retardation, X-Linked, Syndromic 6

Mental Retardation, X-Linked, With Gynecomastia And Obesity

Intellectual Disability, X-Linked, Syndromic 6

Intellectual Disability, X-Linked, With Gynecomastia And Obesity

Wilson Turner Intellectual Disability Syndrome

X-Linked Intellectual Disability - Gynecomastia - Obesity

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

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 CITED1 RGD RGD:620781
Canis familiaris CITED1 VGNC VGNC:39283
Mus musculus CITED1 MGD MGI:108023
Felis catus CITED1 VGNC VGNC:60910
Bos taurus CITED1 VGNC VGNC:27376
Macaca mulatta CITED1 VGNC VGNC:71227