FCHO1 - FCH and mu domain containing endocytic adaptor 1 Gene
Also Known as IMD76
生物種: Homo sapiens
About FCHO1
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.
Summary
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 Products (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 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables AP-2 adaptor complex binding |
IDA
IDA: Inferred from direct assay
|
22484487 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19713939 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in T cell receptor signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
32098969 | GOA |
| involved in clathrin coat assembly |
IMP
IMP: Inferred from mutant phenotype
|
20448150 | GOA |
| involved in clathrin-dependent endocytosis |
IMP
IMP: Inferred from mutant phenotype
|
20448150 | GOA |
| involved in positive regulation of T cell activation |
IMP
IMP: Inferred from mutant phenotype
|
32098969 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| is active in clathrin-coated pit |
IDA
IDA: Inferred from direct assay
|
20448150 | GOA |
| located in clathrin-coated pit |
IDA
IDA: Inferred from direct assay
|
22484487 | GOA |
| NOT colocalizes with clathrin-coated vesicle |
IDA
IDA: Inferred from direct assay
|
20448150 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
20448150 | GOA |
FCHO1 Protein Structure
FCH: Fes/CIP4, and EFC/F-BAR homology domain (7 - 92)
muHD: Muniscin C-terminal mu homology domain (626 - 887)
- 0
- 200
- 400
- 600
- 800
- 889 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
F-BAR domain only protein 1 |
|
FCHO1 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
FCHO1 | O14526 | LGALS14 | Homo sapiens | Q8TCE9 | 25416956 | |
|
Intra
|
FCHO1 | O14526 | PTK6 | Homo sapiens | Q13882 | 25416956 | |
|
Intra
|
FCHO1 | O14526 | PTK6 | Homo sapiens | Q13882 | 25416956 | |
|
Intra
|
FCHO1 | O14526 | PTK6 | Homo sapiens | Q13882 | 25416956 | |
|
Intra
|
FCHO1 | O14526 | EXOSC5 | Homo sapiens | Q9NQT4 | 25416956 | |
|
Intra
|
FCHO1 | O14526 | EXOSC5 | Homo sapiens | Q9NQT4 | 25416956 | |
|
Intra
|
FCHO1 | O14526 | EXOSC5 | Homo sapiens | Q9NQT4 | 25416956 | |
|
Cross
|
FCHO1 | O14526 | Eps15 | Rattus norvegicus | A7BFV9 | 19713939 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Immunodeficiency 76 |
|
|
| Severe Congenital Neutropenia |
|
|
| Guillain-Barre Syndrome |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
|
| Developmental And Epileptic Encephalopathy 48 |
|
|
| Spastic Paraplegia 50, Autosomal Recessive |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | 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 |
| Others | FCHO1 | NCBI |