1. Gene
  2. FCHO1 - FCH and mu domain containing endocytic adaptor 1 Gene

FCHO1 - FCH and mu domain containing endocytic adaptor 1 Gene

中文名称:含 FCH 和内吞适配因子 1 的 mu 域

种属: Homo sapiens

同用名: IMD76

基因 ID: 23149 | 基因类型: protein coding

关于 FCHO1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,747,744-17,788,561 (from NCBI)

This gene has 59 transcripts (splice variants), 205 orthologues, 5 paralogues and is associated with 1 phenotype. Broad expression in lymph node (RPKM 7.7), spleen (RPKM 6.3) and 14 other tissues.

功能概要

启用 AP-2 适配器复合体绑定活动。参与网格蛋白涂层组装和网格蛋白依赖性内吞作用。位于胞质溶胶中;核质;和质膜。在网格蛋白涂层的坑中活跃。与原发性免疫缺陷病有关。 [由基因组资源联盟提供,2022 年 4 月]

Enables AP-2 adaptor complex binding activity. Involved in clathrin coat assembly and clathrin-dependent endocytosis. Located in cytosol; nucleoplasm; and plasma membrane. Is active in clathrin-coated pit. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Apr 2022]

FCHO1 基因产物(40)

mRNA Protein Name
NM_001161357.2 NP_001154829.1 F-BAR domain only protein 1 isoform a
NM_001161358.2 NP_001154830.1 F-BAR domain only protein 1 isoform b
NM_001161359.2 NP_001154831.1 F-BAR domain only protein 1 isoform c
NM_001384370.1 NP_001371299.1 F-BAR domain only protein 1 isoform b
NM_001384371.1 NP_001371300.1 F-BAR domain only protein 1 isoform b
NM_001384372.1 NP_001371301.1 F-BAR domain only protein 1 isoform b
NM_001384373.1 NP_001371302.1 F-BAR domain only protein 1 isoform b
NM_001384374.1 NP_001371303.1 F-BAR domain only protein 1 isoform b
NM_001384375.1 NP_001371304.1 F-BAR domain only protein 1 isoform b
NM_001384376.1 NP_001371305.1 F-BAR domain only protein 1 isoform b
NM_001384377.1 NP_001371306.1 F-BAR domain only protein 1 isoform b
NM_001384378.1 NP_001371307.1 F-BAR domain only protein 1 isoform b
NM_001384379.1 NP_001371308.1 F-BAR domain only protein 1 isoform b
NM_001384380.1 NP_001371309.1 F-BAR domain only protein 1 isoform b
NM_001384381.1 NP_001371310.1 F-BAR domain only protein 1 isoform b
NM_001384384.1 NP_001371313.1 F-BAR domain only protein 1 isoform c
NM_001384385.1 NP_001371314.1 F-BAR domain only protein 1 isoform c
NM_001384386.1 NP_001371315.1 F-BAR domain only protein 1 isoform c
NM_001384387.1 NP_001371316.1 F-BAR domain only protein 1 isoform d
NM_001384388.1 NP_001371317.1 F-BAR domain only protein 1 isoform e
NM_001384389.1 NP_001371318.1 F-BAR domain only protein 1 isoform e
NM_001384390.1 NP_001371319.1 F-BAR domain only protein 1 isoform f
NM_001384391.1 NP_001371320.1 F-BAR domain only protein 1 isoform g
NM_001384392.1 NP_001371321.1 F-BAR domain only protein 1 isoform h
NM_001384393.1 NP_001371322.1 F-BAR domain only protein 1 isoform i
NM_001384394.1 NP_001371323.1 F-BAR domain only protein 1 isoform i
NM_001384395.1 NP_001371324.1 F-BAR domain only protein 1 isoform i
NM_001384396.1 NP_001371325.1 F-BAR domain only protein 1 isoform j
NM_001384397.1 NP_001371326.1 F-BAR domain only protein 1 isoform j
NM_001384398.1 NP_001371327.1 F-BAR domain only protein 1 isoform j
NM_001384399.1 NP_001371328.1 F-BAR domain only protein 1 isoform j
NM_001384400.1 NP_001371329.1 F-BAR domain only protein 1 isoform j
NM_001384401.1 NP_001371330.1 F-BAR domain only protein 1 isoform j
NM_001384402.1 NP_001371331.1 F-BAR domain only protein 1 isoform j
NM_001384403.1 NP_001371332.1 F-BAR domain only protein 1 isoform k
NM_001384404.1 NP_001371333.1 F-BAR domain only protein 1 isoform l
NM_001384405.1 NP_001371334.1 F-BAR domain only protein 1 isoform m
NM_001384406.1 NP_001371335.1 F-BAR domain only protein 1 isoform n
NM_001384407.1 NP_001371336.1 F-BAR domain only protein 1 isoform o
NM_015122.3 NP_055937.1 F-BAR domain only protein 1 isoform b
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 AP-2 adaptor complex binding IDA
IDA: 通过直接分析推断
22484487 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19713939 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in T cell receptor signaling pathway IMP
IMP: 通过突变表型推断
32098969 GOA
involved in clathrin coat assembly IMP
IMP: 通过突变表型推断
20448150 GOA
involved in clathrin-dependent endocytosis IMP
IMP: 通过突变表型推断
20448150 GOA
involved in positive regulation of T cell activation IMP
IMP: 通过突变表型推断
32098969 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in clathrin-coated pit IDA
IDA: 通过直接分析推断
20448150 GOA
located in clathrin-coated pit IDA
IDA: 通过直接分析推断
22484487 GOA
NOT colocalizes with clathrin-coated vesicle IDA
IDA: 通过直接分析推断
20448150 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
20448150 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

FCHO1 蛋白结构

FCH

FCH: Fes/CIP4, and EFC/F-BAR homology domain (7 - 92)

muHD

muHD: Muniscin C-terminal mu homology domain (626 - 887)

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

F-BAR domain only protein 1

FCH domain only 1

FCHO1 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
FCHO1 O14526 LGALS14 Homo sapiens Q8TCE9
Validated Y2H
25416956
种属内
FCHO1 O14526 PTK6 Homo sapiens Q13882
Y2H Array
25416956
种属内
FCHO1 O14526 PTK6 Homo sapiens Q13882
Validated Y2H
25416956
种属内
FCHO1 O14526 PTK6 Homo sapiens Q13882
Y2H Prey Pooling
25416956
种属内
FCHO1 O14526 EXOSC5 Homo sapiens Q9NQT4
Y2H Prey Pooling
25416956
种属内
FCHO1 O14526 EXOSC5 Homo sapiens Q9NQT4
Validated Y2H
25416956
种属内
FCHO1 O14526 EXOSC5 Homo sapiens Q9NQT4
Y2H Array
25416956
种属间
FCHO1 O14526 Eps15 Rattus norvegicus A7BFV9
Pull Down
19713939
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
Immunodeficiency 76

IMD76

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Guillain-Barre Syndrome

Guillain-Barré Syndrome

Acute Inflammatory Polyneuropathy

Gbs

Acute Inflammatory Demyelinating Polyneuropathy

Acute Inflammatory Demyelinating Polyradiculoneuropathy

Acute Infective Polyneuritis

Acute Inflammatory Demyelinating Polyradiculopathy

Acute Postinfectious Polyneuropathy

Infectious Neuronitis

Post-Infectious Polyneuritis

Postinfectious Polyneuritis

Acute Autoimmune Peripheral Neuropathy

Acute Immune-Mediated Polyneuropathy

Acute Inflammatory Neuropathy

Guillain-Barré-Strohl Syndrome

Landry'S Ascending Paralysis

Landry-Guillain-Barre-Strohl Syndrome

Post-Infective Polyneuritis

Acute Infectious Polyneuritis

Fisher Syndrome

Landry-Guillain-Barre Syndrome

Guillain-Barre-Strohl Syndrome

Variant Of Guillain-Barre Syndrome

Variant Of Gbs

Aidp

Acute Idiopathic Demyelinating Polyneuropathy

Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

Miller Fisher Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 56

Mental Retardation, Autosomal Dominant 56

MRD56

Autosomal Dominant Mental Retardation 56

Autosomal Dominant Intellectual Developmental Disorder 56

Autosomal Dominant Intellectual Developmental Disorder-56

Developmental And Epileptic Encephalopathy 48

DEE48

Epileptic Encephalopathy, Early Infantile, 48

Eiee48

Developmental And Epileptic Encephalopathy, 48

Early Infantile Epileptic Encephalopathy 48

Spastic Paraplegia 50, Autosomal Recessive

Hereditary Spastic Paraplegia 50

SPG50

Ap-4 Deficiency Syndrome

Ap-4-Associated Hereditary Spastic Paraplegia

Adaptor Protein Complex 4 Deficiency

Cerebral Palsy, Spastic Quadriplegic, 3, Formerly

Cpsq3, Formerly

Autosomal Recessive Spastic Paraplegia 50

Cpsq3

Spastic Quadriplegic Cerebral Palsy 3

Ap-4 Deficiency

Ap-4-Associated Hsp

Paraplegia, Spastic, Autosomal Recessive, Type 50

Spastic Paraplegia-50, Autosomal Recessive

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 FCHO1 VGNC VGNC:72591
Canis familiaris FCHO1 VGNC VGNC:40804
Rattus norvegicus FCHO1 RGD RGD:1307683
Bos taurus FCHO1 VGNC VGNC:28935
Mus musculus FCHO1 MGD MGI:1921265
Felis catus FCHO1 VGNC VGNC:62210