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FYCO1 (FYVE and coiled-coil domain autophagy adaptor 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79443
Gene nameGene Name - the full gene name approved by the HGNC.
FYVE and coiled-coil domain autophagy adaptor 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FYCO1
SynonymsGene synonyms aliases
CATC2, CTRCT18, RUFY3, ZFYVE7
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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
GO:0005764 Component Lysosome IBA 21873635
GO:0005764 Component Lysosome IDA 20100911
GO:0005770 Component Late endosome IBA 21873635
GO:0005770 Component Late endosome IDA 20100911
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Salmonella infection  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cataract Cataract, Nuclear cataract, Nuclear non-senile cataract, Cataract, autosomal recessive congenital 2, Early-onset nuclear cataract, Total early-onset cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692 21636066, 24384146, 24384146, 21636066, 11519376, 21636066
Unknown
Disease name Disease term dbSNP ID References
Congenital cataract Congenital cataract, Congenital total cataract 26622071

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