Gene Gene information from NCBI Gene database.
Entrez ID 79443
Gene name FYVE and coiled-coil domain autophagy adaptor 1
Gene symbol FYCO1
Synonyms (NCBI Gene)
CATC2CTRCT18RUFY3ZFYVE7
Chromosome 3
Chromosome location 3p21.31
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 mic
SNPs SNP information provided by dbSNP.
12
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.
412
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607182 14673 ENSG00000163820
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the eye Likely pathogenic; Pathogenic rs764164884 RCV001814428
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 18 Likely pathogenic; Pathogenic rs764164884, rs2125859216, rs777269054, rs200679450, rs2125859204, rs73830668, rs2125846016, rs2529040601, rs775542878, rs774761672, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966
View all (6 more)
RCV005094751
RCV001783320
RCV001905836
RCV001955541
RCV001967448
View all (16 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FYCO1-related disorder Pathogenic; Likely pathogenic rs372348872, rs749045427, rs933498193, rs2528977475 RCV003402847
RCV003896386
RCV003946784
RCV003954892
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31772661
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26517091 Associate
★☆☆☆☆
Found in Text Mining only
Arsenic Encephalopathy Arsenic Encephalopathy CTD_human_DG 16835338
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35018543 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28623323 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31772661
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 21636066, 29914532, 32355443, 33339270, 33767456, 34872443, 35638468, 36061348 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Cataract autosomal recessive congenital 2 Congenital cataract Pubtator 33767456 Associate
★☆☆☆☆
Found in Text Mining only
Cataract, autosomal recessive congenital 2 Cataract GENOMICS_ENGLAND_DG 11519376
★★☆☆☆
Found in Text Mining + Unknown/Other Associations