Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79443
Gene name Gene Name - the full gene name approved by the HGNC.
FYVE and coiled-coil domain autophagy adaptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FYCO1
Synonyms (NCBI Gene) Gene synonyms aliases
CATC2, CTRCT18, RUFY3, ZFYVE7
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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 mic
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs140159323 C>T Pathogenic Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs141476300 G>A Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs200557771 G>A,C Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs387906963 G>A Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs387906964 G>A Pathogenic Non coding transcript variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002515 hsa-miR-373-3p Microarray 15685193
MIRT002515 hsa-miR-373-3p Microarray;Other 15685193
MIRT020327 hsa-miR-130b-3p Sequencing 20371350
MIRT028103 hsa-miR-93-5p Sequencing 20371350
MIRT031214 hsa-miR-19b-3p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20100911, 20562859, 23455924, 24089205, 25855459, 32353859, 32814053, 33060197, 35271311, 36217030
GO:0005764 Component Lysosome IBA
GO:0005764 Component Lysosome IDA 20100911
GO:0005764 Component Lysosome IEA
GO:0005768 Component Endosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607182 14673 ENSG00000163820
Protein
UniProt ID Q9BQS8
Protein name FYVE and coiled-coil domain-containing protein 1 (Zinc finger FYVE domain-containing protein 7)
Protein function May mediate microtubule plus end-directed vesicle transport.
PDB 5CX3 , 5D94 , 7BQI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02759 RUN 15 167 RUN domain Family
PF01363 FYVE 1168 1232 FYVE zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart and skeletal muscle. {ECO:0000269|PubMed:11896456}.
Sequence
MASTNAESQLQRIIRDLQDAVTELSKEFQEAGEPITDDSTSLHKFSYKLEYLLQFDQKEK
ATLLGNKKDYWDYFCACLAKVKGANDGIRFVKSISELRTSLGKGRAFIRYSLVHQRLADT
LQQCFMNTKVTSDWYYARSPFLQPKLSSDIVGQLYELTEVQFDLASR
GFDLDAAWPTFAR
RTLTTGSSAYLWKPPSRSSSMSSLVSSYLQTQEMVSNFDLNSPLNNEALEGFDEMRLELD
QLEVREKQLRERMQQLDRENQELRAAVSQQGEQLQTERERGRTAAEDNVRLTCLVAELQK
QWEVTQATQNTVKELQTCLQGLELGAAEKEEDYHTALRRLESMLQPLAQELEATRDSLDK
KNQHLASFPGWLAMAQQKADTASDTKGRQEPIPSDAAQEMQELGEKLQALERERTKVEEV
NRQQSAQLEQLVKELQLKEDARASLERLVKEMAPLQEELSGKGQEADQLWRRLQELLAHT
SSWEEELAELRREKKQQQEEKELLEQEVRSLTRQLQFLETQLAQVSQHVSDLEEQKKQLI
QDKDHLSQQVGMLERLAGPPGPELPVAGEKNEALVPVNSSLQEAWGKPEEEQRGLQEAQL
DDTKVQEGSQEEELRQANRELEKELQNVVGRNQLLEGKLQALQADYQALQQRESAIQGSL
ASLEAEQASIRHLGDQMEASLLAVRKAKEAMKAQMAEKEAILQSKEGECQQLREEVEQCQ
QLAEARHRELRALESQCQQQTQLIEVLTAEKGQQGVGPPTDNEARELAAQLALSQAQLEV
HQGEVQRLQAQVVDLQAKMRAALDDQDKVQSQLSMAEAVLREHKTLVQQLKEQNEALNRA
HVQELLQCSEREGALQEERADEAQQREEELRALQEELSQAKCSSEEAQLEHAELQEQLHR
ANTDTAELGIQVCALTVEKERVEEALACAVQELQDAKEAASREREGLERQVAGLQQEKES
LQEKLKAAKAAAGSLPGLQAQLAQAEQRAQSLQEAAHQELNTLKFQLSAEIMDYQSRLKN
AGEECKSLRGQLEEQGRQLQAAEEAVEKLKATQADMGEKLSCTSNHLAECQAAMLRKDKE
GAALREDLERTQKELEKATTKIQEYYNKLCQEVTNRERNDQKMLADLDDLNRTKKYLEER
LIELLRDKDALWQKSDALEFQQKLSAEERWLGDTEANHCLDCKREFSWMVRRHHCRICGR
IFCYYCCNNYVLSKHGGKKERCCRACFQKLSE
GPGSPDSSGSGTSQGEPSPALSPASPGP
QATGGQGANTDYRPPDDAVFDIITDEELCQIQESGSSLPETPTETDSLDPNAAEQDTTST
SLTPEDTEDMPVGQDSEICLLKSGELMIKVPLTVDEIASFGEGSRELFVRSSTYSLIPIT
VAEAGLTISWVFSSDPKSISFSVVFQEAEDTPLDQCKVLIPTTRCNSHKENIQGQLKVRT
PGIYMLIFDNTFSRFVSKKVFYHLTVDRPVIYDGSDFL
Sequence length 1478
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Salmonella infection  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cataract Cataract 18 rs200557771, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs747093432, rs766522434, rs1575369255 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cataract Associate 21636066, 29914532, 32355443, 33339270, 33767456, 34872443, 35638468, 36061348
Cataract Age Related Nuclear Associate 34872443
Cataract autosomal recessive congenital 2 Associate 33767456
COVID 19 Associate 33649539, 35212764, 37398645
Genetic Diseases Inborn Associate 28418495
Neoplasms Associate 32479595
Osteoarthritis Associate 37398645
Posterior Capsular Rupture Ocular Associate 26622071
Urinary Bladder Neoplasms Inhibit 28381171