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  2. FRA10AC1 - FRA10A associated CGG repeat 1 Gene

FRA10AC1 - FRA10A associated CGG repeat 1 Gene

中文名称:FRA10A 相关 CGG 重复 1

种属: Homo sapiens

同用名: FRA10A; NEDGFC; C10orf4; F26C11.1-like

基因 ID: 118924 | 基因类型: protein coding

关于 FRA10AC1

Cytogenetic location: 10q23.33 Genomic coordinates (GRCh38): 10:93,667,883-93,702,959 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues and 5 paralogues. Ubiquitous expression in brain (RPKM 6.1), testis (RPKM 5.4) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种功能未知的核磷蛋白。该基因在 CpG 岛内包含一个串联 CGG 重复区域,该区域通常由 8-14 个重复组成,但可以扩展到超过 200 个重复。重复区域位于某些转录变体的 5' UTR 内,但对另一个变体而言是内含子。扩展的重复等位基因是一个脆弱的位点,并变得高度甲基化,导致基因表达减少。疾病表型与扩展的等位基因无关。该基因存在于罕见的 FRA10A 叶酸敏感脆弱位点中。[RefSeq 提供,2016 年 12 月]

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]

FRA10AC1 基因产物(5)

mRNA Protein Name
NM_001347712.2 NP_001334641.1 protein FRA10AC1
NM_001347713.2 NP_001334642.1 protein FRA10AC1
NM_001347714.2 NP_001334643.1 protein FRA10AC1
NM_001347715.2 NP_001334644.1 protein FRA10AC1
NM_145246.5 NP_660289.2 protein FRA10AC1
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
16169070 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IMP
IMP: 通过突变表型推断
34694367 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IMP
IMP: 通过突变表型推断
34694367 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

FRA10AC1 蛋白结构

Fra10Ac1

Fra10Ac1: Folate-sensitive fragile site protein Fra10Ac1 (103 - 220)

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

protein FRA10AC1

fragile site 10q23.3

FRA10AC1 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
Intra FRA10AC1 Q70Z53 ESS2 Homo sapiens Q96DF8
Anti Tag CoIP
22365833
Intra FRA10AC1 Q70Z53 ESS2 Homo sapiens Q96DF8
Anti Tag CoIP
34694367
Intra FRA10AC1 Q70Z53 ESS2 Homo sapiens Q96DF8
Y2H
22365833
Intra FRA10AC1 Q70Z53 MAP3K12 Homo sapiens Q12852
Pull Down
16169070
Intra FRA10AC1 Q70Z53 MAP3K12 Homo sapiens Q12852
Y2H Pooling
16169070
Intra FRA10AC1 Q70Z53 IK Homo sapiens Q13123
Anti Tag CoIP
22365833
Intra FRA10AC1 Q70Z53 IK Homo sapiens Q13123
Y2H
22365833
Intra FRA10AC1 Q70Z53 TRIM41 Homo sapiens Q8WV44
Validated Y2H
25416956
Intra FRA10AC1 Q70Z53 TRIM41 Homo sapiens Q8WV44
Y2H Array
25416956
Intra FRA10AC1 Q70Z53 KASH5 Homo sapiens Q8N6L0
Y2H Prey Pooling
25416956
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
Failure Of Tooth Eruption, Primary

Primary Failure Of Tooth Eruption

PFE

Primary Retention Of Teeth

Unerupted Second Primary Molar

Dental Noneruption

Familial Posterior Openbite Malocclusion

Primary Failure Of Tooth Eruption, Nonsyndromic

Posterior Openbite Malocclusion, Familial

Nonsyndromic Primary Failure Of Eruption

Dental Non-Eruption

Non-Syndromic Primary Failure Of Eruption

Tooth Eruption, Failure, Primary

Jacobsen Syndrome

Chromosome 11q Deletion Syndrome

Partial 11q Monosomy Syndrome

Jacobsen Distal 11q Deletion Syndrome

JBS

11q Partial Monosomy Syndrome

Chromosome 11q Deletion

11q Deletion

11q Monosomy

Deletion 11q

Monosomy 11q

Partial Monosomy 11q

11q Deletion Disorder

11q Deletion Syndrome

11q Terminal Deletion Disorder

11q- Deletion Syndrome

11q23 Deletion Disorder

Jacobsen Thrombocytopenia

11q Terminal Deletion Syndrome

Del(11)(Q23.3)

Del(11)(Qter)

Distal Deletion 11q

Distal Monosomy 11q

Monosomy 11qter

Telomeric Deletion 11q

Paris-Trousseau Thrombocytopenia

Tracheomalacia

Congenital Tracheomalacia

Congenital Major Airway Collapse

Tracheomalacia, Congenital

Type 1 Tracheomalacia

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 FRA10AC1 RGD RGD:1309482
Bos taurus FRA10AC1 VGNC VGNC:52779
Felis catus FRA10AC1 VGNC VGNC:62353
Mus musculus FRA10AC1 MGD MGI:1917817
Macaca mulatta FRA10AC1 VGNC VGNC:97771
Canis familiaris FRA10AC1 VGNC VGNC:52992