FYVE And Coiled-Coil Domain Containing 1

Alternative Names

  • FYCO1

Associated Diseases

Cataract 18
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OMIM Number

607182

NCBI Gene ID

79443

Uniprot ID

Q9BQS8

Length

77,922 bases

No. of Exons

23

No. of isoforms

4

Protein Name

FYVE and coiled-coil domain-containing protein 1

Molecular Mass

166983 Da

Amino Acid Count

1478

Genomic Location

chr3:45,917,903-45,995,824

Gene Map Locus
3p21.31

Description

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). [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024513.3:c.449T>CSaudi ArabiaNC_000003.12:g.45973178A>GPathogenicCataract 18NG_031955.1:g.27647T>C; NM_024513.3:c.449T>C; NP_078789.2:p.Ile150Thr866620968
NM_024513.4:c.2345delSaudi ArabiaNC_000003.12:g.45966989delPathogenicPathogenicCataract 18NG_031955.1:g.33836del; NM_024513.4:c.2345del; NP_078789.2:p.Gln782ArgfsTer327755428782203348
NM_024513.4:c.2505delSaudi ArabiaNC_000003.12:g.45966830delPathogenicPathogenicCataract 18NG_031955.1:g.33996del; NM_024513.4:c.2505del; NP_078789.2:p.Ala836ProfsTer801575369255660217
NM_024513.4:c.2714_2715delSaudi ArabiaNC_000003.12:g.45966622_45966623delPathogenicCataract 18NG_031955.1:g.34205_34206del; NM_024513.4:c.2714_2715del; NP_078789.2:p.Thr905SerfsTer21434423179
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