FCHO1 - FCH and mu domain containing endocytic adaptor 1 Gene

Also Known as IMD76

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23149

About 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.

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
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 References Source
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 References Source
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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FCHO1 Protein Structure

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.
Protein Preferred Names Protein Names

F-BAR domain only protein 1

  • FCH domain only 1

FCHO1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FCHO1 O14526 LGALS14 Homo sapiens Q8TCE9
Validated Y2H
25416956
Intra
FCHO1 O14526 PTK6 Homo sapiens Q13882
Y2H Array
25416956
Intra
FCHO1 O14526 PTK6 Homo sapiens Q13882
Validated Y2H
25416956
Intra
FCHO1 O14526 PTK6 Homo sapiens Q13882
Y2H Prey Pooling
25416956
Intra
FCHO1 O14526 EXOSC5 Homo sapiens Q9NQT4
Y2H Prey Pooling
25416956
Intra
FCHO1 O14526 EXOSC5 Homo sapiens Q9NQT4
Validated Y2H
25416956
Intra
FCHO1 O14526 EXOSC5 Homo sapiens Q9NQT4
Y2H Array
25416956
Cross
FCHO1 O14526 Eps15 Rattus norvegicus A7BFV9
Pull Down
19713939
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04834 FCHO1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22504 Fcho1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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