FCHO1 (FCH and mu domain containing endocytic adaptor 1)

Gene

• Entrez ID: 23149
• Gene name: FCH and mu domain containing endocytic adaptor 1
• Gene symbol: FCHO1
• Synonyms (NCBI Gene): IMD76
• Chromosome: 19
• Chromosome location: 19p13.11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT993902	hsa-miR-103a	CLIP-seq
MIRT993903	hsa-miR-107	CLIP-seq
MIRT993904	hsa-miR-15a	CLIP-seq
MIRT993905	hsa-miR-15b	CLIP-seq
MIRT993906	hsa-miR-16	CLIP-seq
MIRT993907	hsa-miR-195	CLIP-seq
MIRT993908	hsa-miR-3621	CLIP-seq
MIRT993909	hsa-miR-3656	CLIP-seq
MIRT993910	hsa-miR-424	CLIP-seq
MIRT993911	hsa-miR-4310	CLIP-seq
MIRT993912	hsa-miR-4487	CLIP-seq
MIRT993913	hsa-miR-4731-5p	CLIP-seq
MIRT993914	hsa-miR-486-3p	CLIP-seq
MIRT993915	hsa-miR-497	CLIP-seq
MIRT993913	hsa-miR-4731-5p	CLIP-seq
MIRT2228898	hsa-miR-29a	CLIP-seq
MIRT2228899	hsa-miR-29b	CLIP-seq
MIRT2228900	hsa-miR-29c	CLIP-seq
MIRT2228901	hsa-miR-3065-3p	CLIP-seq
MIRT2228902	hsa-miR-4280	CLIP-seq
MIRT2228903	hsa-miR-4685-5p	CLIP-seq
MIRT2228904	hsa-miR-4732-5p	CLIP-seq
MIRT2228905	hsa-miR-4733-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19713939, 25416956, 31515488
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20448150
GO:0005905	Component	Clathrin-coated pit	IBA
GO:0005905	Component	Clathrin-coated pit	IDA	20448150
GO:0005905	Component	Clathrin-coated pit	IDA	22484487
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0016020	Component	Membrane	IEA
GO:0030136	Component	Clathrin-coated vesicle	IDA	20448150
GO:0035612	Function	AP-2 adaptor complex binding	IDA	22484487
GO:0048268	Process	Clathrin coat assembly	IBA
GO:0048268	Process	Clathrin coat assembly	IEA
GO:0048268	Process	Clathrin coat assembly	IMP	20448150, 32098969
GO:0050852	Process	T cell receptor signaling pathway	IMP	32098969
GO:0050870	Process	Positive regulation of T cell activation	IMP	32098969
GO:0072583	Process	Clathrin-dependent endocytosis	IBA
GO:0072583	Process	Clathrin-dependent endocytosis	IEA
GO:0072583	Process	Clathrin-dependent endocytosis	IMP	20448150, 32098969
GO:0098843	Component	Postsynaptic endocytic zone	IEA

Other IDs

• MIM: 613437
• HGNC: 29002
• e!Ensembl: ENSG00000130475

Protein

• UniProt ID: O14526
• Protein name: F-BAR domain only protein 1
• Protein function: Functions in an early step of clathrin-mediated endocytosis (PubMed:30822429). Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. May regulate Bmp signa
• PDB: 7OHI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00611	FCH	15 → 87	Fes/CIP4, and EFC/F-BAR homology domain	Family
  PF10291	muHD	626 → 888	Muniscin C-terminal mu homology domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in lymphoid cells. {ECO:0000269|PubMed:30822429}.
• Sequence:

  MSYFGEHFWGEKNHGFEVLYHSVKQGPISTKELADFIRERATIEETYSKAMAKLSKLASN
  GTPMGTFAPLWEVFRVSSDKLALCHLELTRKLQDLIKDVLRYGEEQLKTHKKCKEEVVST
  LDAVQVLSGVSQLLPKSRENYLNRCMDQERLRRESTSQKEMDKAETKTKKAAESLRRSVE
  KYNSARADFEQKMLDSALRFQAMEETHLRHMKALLGSYAHSVEDTHVQIGQVHEEFKQNI
  ENVSVEMLLRKFAESKGTGREKPGPLDFEAYSAAALQEAMKRLRGAKAFRLPGLSRRERE
  PEPPAAVDFLEPDSGTCPEVDEEGFTVRPDVTQNSTAEPSRFSSSDSDFDDEEPRKFYVH
  IKPAPARAPACSPEAAAAQLRATAGSLILPPGPGGTMKRHSSRDAAGKPQRPRSAPRTSS
  CAERLQSEEQVSKNLFGPPLESAFDHEDFTGSSSLGFTSSPSPFSSSSPENVEDSGLDSP
  SHAAPGPSPDSWVPRPGTPQSPPSCRAPPPEARGIRAPPLPDSPQPLASSPGPWGLEALA
  GGDLMPAPADPTAREGLAAPPRRLRSRKVSCPLTRSNGDLSRSLSPSPLGSSAASTALER
  PSFLSQTGHGVSRGPSPVVLGSQDALPIATAFTEYVHAYFRGHSPSCLARVTGELTMTFP
  AGIVRVFSGTPPPPVLSFRLVHTTAIEHFQPNADLLFSDPSQSDPETKDFWLNMAALTEA
  LQRQAEQNPTASYYNVVLLRYQFSRPGPQSVPLQLSAHWQCGATLTQVSVEYGYRPGATA
  VPTPLTNVQILLPVGEPVTNVRLQPAATWNLEEKRLTWRLPDVSEAGGSGRLSASWEPLS
  GPSTPSPVAAQFTSEGTTLSGVDLELVGSGYRMSLVKRRFATGMYLVSC

• Sequence length: 889

Pathways

Reactome:

Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
FCHO1-related disorder	Likely pathogenic	rs2513631162	RCV003402127	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 76	Pathogenic	rs2093571190, rs530286781, rs2086875746, rs2089298923, rs2087831882, rs2083028943	RCV001290959 RCV001290960 RCV001290961 RCV001290962 RCV001290957 RCV001290958	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunodeficiency with T and B cell lymphopenia	Pathogenic	rs1336566500	RCV001172378	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe congenital neutropenia	Pathogenic	rs1336566500, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs2091196149	RCV001194473 RCV001194470 RCV001194468 RCV001194469 RCV001194472 RCV001194471	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO FCHO1 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	34151536	Associate	★☆☆☆☆ Found in Text Mining only