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FYCO1 FYVE and coiled-coil domain containing 1 [ Homo sapiens (human) ]

Gene ID: 79443, updated on 15-Apr-2019

Summary

Official Symbol
FYCO1provided by HGNC
Official Full Name
FYVE and coiled-coil domain containing 1provided by HGNC
Primary source
HGNC:HGNC:14673
See related
Ensembl:ENSG00000163820 MIM:607182
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CATC2; RUFY3; ZFYVE7; CTRCT18
Summary
This gene encodes a protein that contains a RUN domain, 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) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in heart (RPKM 22.7), endometrium (RPKM 12.6) and 25 other tissues See more
Orthologs

Genomic context

See FYCO1 in Genome Data Viewer
Location:
3p21.31
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (45917899..45995824, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (45959391..46037316, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene leucine zipper transcription factor like 1 Neighboring gene succinate dehydrogenase complex subunit D pseudogene 4 Neighboring gene C-C motif chemokine receptor 9 Neighboring gene C-X-C motif chemokine receptor 6 Neighboring gene uncharacterized LOC105377063 Neighboring gene nuclear receptor binding factor 2 pseudogene 2 Neighboring gene X-C motif chemokine receptor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13335, MGC126517, MGC126519, DKFZp779K1152

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
plus-end-directed vesicle transport along microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plus-end-directed vesicle transport along microtubule IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of autophagosome maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
autophagosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
FYVE and coiled-coil domain-containing protein 1
Names
RUN and FYVE domain containing 3
zinc finger FYVE domain-containing protein 7

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031955.1 RefSeqGene

    Range
    5001..82926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024513.4NP_078789.2  FYVE and coiled-coil domain-containing protein 1

    See identical proteins and their annotated locations for NP_078789.2

    Status: REVIEWED

    Source sequence(s)
    AC099782, BC101468, DB134257
    Consensus CDS
    CCDS2734.1
    UniProtKB/Swiss-Prot
    Q9BQS8
    Related
    ENSP00000296137.2, ENST00000296137.7
    Conserved Domains (6) summary
    PRK02224
    Location:226679
    PRK02224; chromosome segregation protein; Provisional
    cd15726
    Location:11701227
    FYVE_FYCO1; FYVE domain found in FYVE and coiled-coil domain-containing protein 1 (FYCO1) and similar proteins
    pfam13897
    Location:14191463
    GOLD_2; Golgi-dynamics membrane-trafficking
    pfam15619
    Location:8201033
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl02689
    Location:49164
    RUN; RUN domain
    cl19219
    Location:396479
    DUF342; Protein of unknown function (DUF342)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    45917899..45995824 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534111.3XP_011532413.1  FYVE and coiled-coil domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011532413.1

    UniProtKB/Swiss-Prot
    Q9BQS8
    Conserved Domains (6) summary
    PRK02224
    Location:226679
    PRK02224; chromosome segregation protein; Provisional
    cd15726
    Location:11701227
    FYVE_FYCO1; FYVE domain found in FYVE and coiled-coil domain-containing protein 1 (FYCO1) and similar proteins
    pfam13897
    Location:14191463
    GOLD_2; Golgi-dynamics membrane-trafficking
    pfam15619
    Location:8201033
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl02689
    Location:49164
    RUN; RUN domain
    cl19219
    Location:396479
    DUF342; Protein of unknown function (DUF342)
  2. XM_006713334.3XP_006713397.1  FYVE and coiled-coil domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006713397.1

    UniProtKB/Swiss-Prot
    Q9BQS8
    Conserved Domains (6) summary
    PRK02224
    Location:226679
    PRK02224; chromosome segregation protein; Provisional
    cd15726
    Location:11701227
    FYVE_FYCO1; FYVE domain found in FYVE and coiled-coil domain-containing protein 1 (FYCO1) and similar proteins
    pfam13897
    Location:14191463
    GOLD_2; Golgi-dynamics membrane-trafficking
    pfam15619
    Location:8201033
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl02689
    Location:49164
    RUN; RUN domain
    cl19219
    Location:396479
    DUF342; Protein of unknown function (DUF342)
  3. XM_006713333.3XP_006713396.1  FYVE and coiled-coil domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006713396.1

    UniProtKB/Swiss-Prot
    Q9BQS8
    Conserved Domains (6) summary
    PRK02224
    Location:226679
    PRK02224; chromosome segregation protein; Provisional
    cd15726
    Location:11701227
    FYVE_FYCO1; FYVE domain found in FYVE and coiled-coil domain-containing protein 1 (FYCO1) and similar proteins
    pfam13897
    Location:14191463
    GOLD_2; Golgi-dynamics membrane-trafficking
    pfam15619
    Location:8201033
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cl02689
    Location:49164
    RUN; RUN domain
    cl19219
    Location:396479
    DUF342; Protein of unknown function (DUF342)

RNA

  1. XR_245157.1 RNA Sequence

  2. XR_001740265.1 RNA Sequence

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