1. Gene
  2. FYCO1 - FYVE and coiled-coil domain autophagy adaptor 1 Gene

FYCO1 - FYVE and coiled-coil domain autophagy adaptor 1 Gene

Homo sapiens

Also known as CATC2; RUFY3; ZFYVE7; CTRCT18

Gene ID: 79443 | Gene type: protein coding

About FYCO1

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:45,917,903-45,995,824 (from NCBI)

This gene has 5 transcripts (splice variants), 286 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in heart (RPKM 22.7), endometrium (RPKM 12.6) and 25 other tissues.

Summary

The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a FYVE-type zinc finger domain, and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P), the autophagosome marker LC3, and the Kinesin KIF5. Mutations in this gene are associated with inclusion body myositis (IBM) and autosomal recessive congenital cataracts (CATC2). [provided by RefSeq, Aug 2020]

FYCO1 Products(11)

mRNA Protein Name
NM_001386421.1 NP_001373350.1 FYVE and coiled-coil domain-containing protein 1 isoform 1
NM_001386422.1 NP_001373351.1 FYVE and coiled-coil domain-containing protein 1 isoform 1
NM_001386423.1 NP_001373352.1 FYVE and coiled-coil domain-containing protein 1 isoform 2
NM_001386424.1 NP_001373353.1 FYVE and coiled-coil domain-containing protein 1 isoform 3
NM_001386425.1 NP_001373354.1 FYVE and coiled-coil domain-containing protein 1 isoform 4
NM_001386426.1 NP_001373355.1 FYVE and coiled-coil domain-containing protein 1 isoform 5
NM_001386427.1 NP_001373356.1 FYVE and coiled-coil domain-containing protein 1 isoform 6
NM_001386428.1 NP_001373357.1 FYVE and coiled-coil domain-containing protein 1 isoform 7
NM_001386429.1 NP_001373358.1 FYVE and coiled-coil domain-containing protein 1 isoform 8
NM_001386430.1 NP_001373359.1 FYVE and coiled-coil domain-containing protein 1 isoform 9
NM_024513.4 NP_078789.2 FYVE and coiled-coil domain-containing protein 1 isoform 1

FYCO1 Protein Structure

RUN

RUN: RUN domain (60 - 165)

FYVE

FYVE: FYVE zinc finger (1169 - 1231)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1478 a.a.
Protein Preferred Names Protein Names

FYVE and coiled-coil domain-containing protein 1

FYVE and coiled-coil domain containing 1

Related Diseases

Diseases Alias
Cataract 18

Cataract, Autosomal Recessive Congenital 2

Catc2

CTRCT18

Autosomal Recessive Congenital Cataract 2

Cataract 18, Autosomal Recessive

Cataract 18 Autosomal Recessive

Cataract, Type 18

Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44

Early-Onset Nuclear Cataract
Inclusion Body Myositis

Ibm

Sporadic Inclusion Body Myositis

Inflammatory Myopathy

Myositis, Inclusion Body

Inflammatory Myopathies

Sibm

Myositis Inclusion Body

Nonaka Myopathy

Inclusion Body Myopathy, Autosomal Recessive

Inclusion Body Myopathy, Autosomal Dominant

Myositis

Inclusion Body Myopathy, Sporadic

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Myositis

Idiopathic Inflammatory Myopathy

Idiopathic Inflammatory Myositis

Iim

Imm

Idiopathic Inflammatory Myopathies

Myopathy, Familial Idiopathic Inflammatory

Inflammatory Disorder Of Muscle

Idiopathic Inflammatory Myopathy, Familial

Inflammatory Myopathy, Idiopathic

Myopathies Idiopathic Inflammatory

Familial Idiopathic Inflammatory Myopathy

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Deprivation Amblyopia

Disuse Amblyopia

Stimulus Deprivation Amblyopia

Combined Cellular And Humoral Immune Defects With Granulomas

Combined Immunodeficiency With Skin Granulomas

CCHIDG

Cid Due To Rag 1/2 Deficiency

Combined Immunodeficiency Due To Rag 1/2 Deficiency

Combined Immunodeficiency With Granulomatosis

CHIDG

Immune Defects, Combined Cellular And Humoral With Granulomas

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta FYCO1 VGNC VGNC:72722
Felis catus FYCO1 VGNC VGNC:80049
Rattus norvegicus FYCO1 RGD RGD:1309069
Canis familiaris FYCO1 VGNC VGNC:41026
Bos taurus FYCO1 VGNC VGNC:29162
Mus musculus FYCO1 MGD MGI:107277