1. Gene
  2. FHOD1 - formin homology 2 domain containing 1 Gene

FHOD1 - formin homology 2 domain containing 1 Gene

中文名称:含形式同源 2 结构域 1

种属: Homo sapiens

同用名: FHOS

基因 ID: 29109 | 基因类型: protein coding

关于 FHOD1

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,229,389-67,247,481 (from NCBI)

This gene has 10 transcripts (splice variants), 223 orthologues and 18 paralogues. Broad expression in spleen (RPKM 38.0), lung (RPKM 13.5) and 20 other tissues.

功能概要

该基因编码的蛋白质是甲醛/透明蛋白质家族的成员。该基因普遍表达,但在脾脏中大量存在。编码的蛋白质与 Formin 同源 (FH) 1 和 FH2 结构域内的透明蛋白和福明蛋白具有序列同源性。它还包含一个卷曲螺旋结构域、一个胶原样结构域、两个核定位信号和几个潜在的 PKCPKA 磷酸化位点。它主要是细胞质蛋白,在多种人类细胞系中表达。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 12 月]

This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

FHOD1 基因产物(2)

mRNA Protein Name
NM_001318202.2 NP_001305131.1 FH1/FH2 domain-containing protein 1 isoform 1
NM_013241.3 NP_037373.2 FH1/FH2 domain-containing protein 1 isoform 2
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 identical protein binding IPI
IPI: 通过物理相互作用推断
18239683 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15095401 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of stress fiber assembly IDA
IDA: 通过直接分析推断
15095401 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
15095401 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
16361249 GOA
involved in regulation of stress fiber assembly IMP
IMP: 通过突变表型推断
16361249 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
15095401 GOA
colocalizes with stress fiber IDA
IDA: 通过直接分析推断
15095401 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

FHOD1 蛋白结构

FH2

FH2: Formin Homology 2 Domain (618 - 987)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1164 a.a.
蛋白主名 其他名称

FH1/FH2 domain-containing protein 1

formin homolog overexpressed in spleen 1

FHOD1 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
种属间
FHOD1 Q9Y613 Syne2 Mus musculus Q6ZWQ0-1 24880667
种属间
FHOD1 Q9Y613 Syne2 Mus musculus Q6ZWQ0-1
Y2H
24880667
种属内
FHOD1 Q9Y613 SYNE2 Homo sapiens Q8WXH0 24880667
种属内
FHOD1 Q9Y613 SYNE2 Homo sapiens Q8WXH0 24880667
种属内
FHOD1 Q9Y613 SYNE2 Homo sapiens Q8WXH0
Y2H
24880667
种属内
FHOD1 Q9Y613 FHOD1 Homo sapiens Q9Y613 18239683
种属内
FHOD1 Q9Y613 TRIM21 Homo sapiens P19474 32296183
种属内
FHOD1 Q9Y613 FHOD1 Homo sapiens Q9Y613 15642356
种属内
FHOD1 Q9Y613 TRIM21 Homo sapiens P19474 32296183
种属内
FHOD1 Q9Y613 FHOD1 Homo sapiens Q9Y613
GMS
18786395
种属内
FHOD1 Q9Y613 FHOD1 Homo sapiens Q9Y613
Y2H
15642356
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
Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Dementia, Familial Danish

Fdd

Familial Danish Dementia

Heredopathia Ophthalmootoencephalica

Hooe

Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis

Adan Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy 2

Itm2b Amyloidosis

Familial Cerebral Amyloid Angiopathy

Itm2b-Related Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy

Familial Dementia, Danish Type

Cerebral Amyloid Angiopathy, Itm2b-Related 2

CAA-ITM2B2

Cerebellar Ataxia Cataract Deafness And Dementia Or Psychosis

Dementia, Familial, Danish

Mandibular Cancer

Mandibular Neoplasms

Malignant Neoplasm Of Inferior Maxilla

Malignant Neoplasm Of Lower Jaw Bone

Malignant Neoplasm Of Mandible

Mandible Cancer

Mandibular Neoplasm

Neoplasm Of Mandible

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

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
Macaca mulatta FHOD1 VGNC VGNC:72523
Felis catus FHOD1 VGNC VGNC:82340
Rattus norvegicus FHOD1 RGD RGD:1589776
Bos taurus FHOD1 VGNC VGNC:29003
Mus musculus FHOD1 MGD MGI:2679008
Canis familiaris FHOD1 VGNC VGNC:40875