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    WDFY3 WD repeat and FYVE domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 23001, updated on 3-Nov-2024

    Summary

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    Official Symbol
    WDFY3provided by HGNC
    Official Full Name
    WD repeat and FYVE domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:20751
    See related
    Ensembl:ENSG00000163625 MIM:617485; AllianceGenome:HGNC:20751
    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
    ALFY; BCHS; MCPH18; ZFYVE25
    Summary
    This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in kidney (RPKM 8.6), brain (RPKM 8.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDFY3 in Genome Data Viewer
    Location:
    4q21.23
    Exon count:
    74
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (84669597..84966690, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (87999582..88296708, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (85590750..85887843, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:85504073-85505026 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:85517394-85518371 Neighboring gene Sharpr-MPRA regulatory region 8979 Neighboring gene uncharacterized LOC124900854 Neighboring gene CDP-diacylglycerol synthase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:85612241-85613440 Neighboring gene RNA, 7SL, cytoplasmic 552, pseudogene Neighboring gene WDFY3 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:85777520-85778150 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:85791021-85791555 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:85791556-85792089 Neighboring gene RNA, U6 small nuclear 469, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:85848560-85849074 Neighboring gene WDFY3 antisense RNA 2 Neighboring gene RN7SK pseudogene 48 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:86087809-86088309 Neighboring gene quinone oxidoreductase-like protein 2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. The autophagy scaffold protein ALFY is critical for the granulocytic differentiation of AML cells. Schläfli AM, et al. Sci Rep, 2017 Oct 11. PMID 29021535, Free PMC Article
    2. Alfy-dependent elimination of aggregated proteins by macroautophagy: can there be too much of a good thing? Yamamoto A, et al. Autophagy, 2011 Mar. PMID 21150266, Free PMC Article
    3. ALFY localizes to early endosomes and cellular protrusions to facilitate directional cell migration. Søreng K, et al. J Cell Sci, 2022 Feb 15. PMID 35099014, Free PMC Article
    4. A master conductor for aggregate clearance by autophagy. Deretic V. Dev Cell, 2010 May 18. PMID 20493804, Free PMC Article
    5. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Le Duc D, et al. Brain, 2019 Sep 1. PMID 31327001, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A genome-wide CRISPR screen identifies WDFY3 as a regulator of macrophage efferocytosis.
      Title: A genome-wide CRISPR screen identifies WDFY3 as a regulator of macrophage efferocytosis.
    2. ALFY localizes to early endosomes and cellular protrusions to facilitate directional cell migration.
      Title: ALFY localizes to early endosomes and cellular protrusions to facilitate directional cell migration.
    3. A highly conserved glutamic acid in ALFY inhibits membrane binding to aid in aggregate clearance.
      Title: A highly conserved glutamic acid in ALFY inhibits membrane binding to aid in aggregate clearance.
    4. Alfy is required in the adult brain for the autophagy-dependent clearance of proteinaceous deposits, and its depletion in neurons derived from Huntington's disease patient fibroblasts accelerates the aberrant accumulation of this pathological hallmark shared across adult-onset neurodegenerative diseases.
      Title: Huntington's Disease Pathogenesis Is Modified In Vivo by Alfy/Wdfy3 and Selective Macroautophagy.
    5. Proliferating cortical neural progenitors of human embryonic brain regions highly express WDFY3.
      Title: Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
    6. a crucial role for ALFY in retinoid triggered maturation of acute myeloid leukemia cells, is reported.
      Title: The autophagy scaffold protein ALFY is critical for the granulocytic differentiation of AML cells.
    7. The Autophagy linked FYVE protein (Alfy), also known as WDFY3, is required for development of the central nervous system (CNS) in mice.
      Title: Autophagy linked FYVE (Alfy/WDFY3) is required for establishing neuronal connectivity in the mammalian brain.
    8. we demonstrate that normally ALFY attenuates the canonical Wnt signaling pathway via autophagy-dependent removal specifically of aggregates of DVL3 and not of Dvl1 or Dvl2.
      Title: ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
    9. ALFY binds selectively to LC3C and the GABARAPs through a LC3-interacting region in its WD40 domain.
      Title: Structural determinants in GABARAP required for the selective binding and recruitment of ALFY to LC3B-positive structures.
    10. increasing Alfy-mediated protein degradation may be beneficial in some organs, but may be detrimental in others
      Title: Alfy-dependent elimination of aggregated proteins by macroautophagy: can there be too much of a good thing?
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Microcephaly 18, primary, autosomal dominant
    MedGen: C4479608 OMIM: 617520 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-10-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-10-10)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0993, MGC16461

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aggrephagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aggrephagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Atg12-Atg5-Atg16 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in autophagosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in autophagosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in inclusion body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat and FYVE domain-containing protein 3
    Names
    autophagy-linked FYVE protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_046917.1 RefSeqGene

      Range
      4702..301795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014991.6 → NP_055806.2  WD repeat and FYVE domain-containing protein 3

      See identical proteins and their annotated locations for NP_055806.2

      Status: REVIEWED

      Source sequence(s)
      AC095046, AC104082, AC108021
      Consensus CDS
      CCDS3609.1
      UniProtKB/Swiss-Prot
      Q4W5K5, Q6P0Q5, Q8IZQ1, Q8N1T2, Q8NAV6, Q96BS7, Q96D33, Q96N85, Q9Y2J7
      UniProtKB/TrEMBL
      H0Y9T6
      Related
      ENSP00000295888.4, ENST00000295888.9
      Conserved Domains (7) summary
      smart01026
      Location:2695 → 2976
      Beach; Beige/BEACH domain
      COG2319
      Location:3044 → 3247
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2534 → 2657
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3449 → 3513
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1434 → 1554
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3084 → 3125
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3084 → 3246
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      84669597..84966690 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531759.3 → XP_011530061.1  WD repeat and FYVE domain-containing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011530061.1

      UniProtKB/TrEMBL
      H0Y9T6
      Conserved Domains (7) summary
      smart01026
      Location:2713 → 2994
      Beach; Beige/BEACH domain
      COG2319
      Location:3062 → 3265
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2552 → 2675
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3467 → 3531
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1452 → 1572
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3102 → 3143
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3102 → 3264
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_047449858.1 → XP_047305814.1  WD repeat and FYVE domain-containing protein 3 isoform X10

    3. XM_011531763.4 → XP_011530065.1  WD repeat and FYVE domain-containing protein 3 isoform X4

      See identical proteins and their annotated locations for XP_011530065.1

      UniProtKB/Swiss-Prot
      Q4W5K5, Q6P0Q5, Q8IZQ1, Q8N1T2, Q8NAV6, Q96BS7, Q96D33, Q96N85, Q9Y2J7
      UniProtKB/TrEMBL
      H0Y9T6
      Conserved Domains (7) summary
      smart01026
      Location:2695 → 2976
      Beach; Beige/BEACH domain
      COG2319
      Location:3044 → 3247
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2534 → 2657
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3449 → 3513
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1434 → 1554
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3084 → 3125
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3084 → 3246
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. XM_011531760.4 → XP_011530062.1  WD repeat and FYVE domain-containing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011530062.1

      UniProtKB/TrEMBL
      H0Y9T6
      Conserved Domains (7) summary
      smart01026
      Location:2713 → 2994
      Beach; Beige/BEACH domain
      COG2319
      Location:3062 → 3265
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2552 → 2675
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3467 → 3531
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1452 → 1572
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3102 → 3143
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3102 → 3264
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. XM_047449859.1 → XP_047305815.1  WD repeat and FYVE domain-containing protein 3 isoform X11

    6. XM_047449857.1 → XP_047305813.1  WD repeat and FYVE domain-containing protein 3 isoform X10

    7. XM_047449854.1 → XP_047305810.1  WD repeat and FYVE domain-containing protein 3 isoform X7

      Related
      ENSP00000424987.2, ENST00000514711.2

    8. XM_047449855.1 → XP_047305811.1  WD repeat and FYVE domain-containing protein 3 isoform X8

    9. XM_047449856.1 → XP_047305812.1  WD repeat and FYVE domain-containing protein 3 isoform X9

    10. XM_011531764.4 → XP_011530066.1  WD repeat and FYVE domain-containing protein 3 isoform X5

      UniProtKB/TrEMBL
      H0Y9T6
      Conserved Domains (7) summary
      smart01026
      Location:2685 → 2966
      Beach; Beige/BEACH domain
      COG2319
      Location:3034 → 3237
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2524 → 2647
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3439 → 3503
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1424 → 1544
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3074 → 3115
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3074 → 3236
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    11. XM_047449853.1 → XP_047305809.1  WD repeat and FYVE domain-containing protein 3 isoform X6

    12. XM_011531761.4 → XP_011530063.1  WD repeat and FYVE domain-containing protein 3 isoform X2

      UniProtKB/TrEMBL
      H0Y9T6
      Conserved Domains (7) summary
      smart01026
      Location:2698 → 2979
      Beach; Beige/BEACH domain
      COG2319
      Location:3047 → 3250
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2537 → 2660
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3452 → 3516
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1452 → 1572
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3087 → 3128
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3087 → 3249
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    13. XM_011531762.4 → XP_011530064.1  WD repeat and FYVE domain-containing protein 3 isoform X3

      UniProtKB/TrEMBL
      H0Y9T6
      Conserved Domains (7) summary
      smart01026
      Location:2696 → 2977
      Beach; Beige/BEACH domain
      COG2319
      Location:3045 → 3248
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2535 → 2658
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3450 → 3514
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1452 → 1572
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3085 → 3126
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3085 → 3247
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    14. XM_011531757.4 → XP_011530059.1  WD repeat and FYVE domain-containing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011530059.1

      UniProtKB/TrEMBL
      H0Y9T6
      Conserved Domains (7) summary
      smart01026
      Location:2713 → 2994
      Beach; Beige/BEACH domain
      COG2319
      Location:3062 → 3265
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2552 → 2675
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3467 → 3531
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1452 → 1572
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3102 → 3143
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3102 → 3264
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    15. XM_047449851.1 → XP_047305807.1  WD repeat and FYVE domain-containing protein 3 isoform X4

      UniProtKB/Swiss-Prot
      Q4W5K5, Q6P0Q5, Q8IZQ1, Q8N1T2, Q8NAV6, Q96BS7, Q96D33, Q96N85, Q9Y2J7

    16. XM_005262858.6 → XP_005262915.1  WD repeat and FYVE domain-containing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_005262915.1

      UniProtKB/TrEMBL
      H0Y9T6
      Conserved Domains (7) summary
      smart01026
      Location:2713 → 2994
      Beach; Beige/BEACH domain
      COG2319
      Location:3062 → 3265
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2552 → 2675
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3467 → 3531
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1452 → 1572
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3102 → 3143
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3102 → 3264
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    17. XM_017007908.3 → XP_016863397.1  WD repeat and FYVE domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      H0Y9T6
      Conserved Domains (7) summary
      smart01026
      Location:2713 → 2994
      Beach; Beige/BEACH domain
      COG2319
      Location:3062 → 3265
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2552 → 2675
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3467 → 3531
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1452 → 1572
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3102 → 3143
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3102 → 3264
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    18. XM_047449850.1 → XP_047305806.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    19. XM_047449846.1 → XP_047305802.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    20. XM_047449847.1 → XP_047305803.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    21. XM_047449848.1 → XP_047305804.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    22. XM_047449849.1 → XP_047305805.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    23. XM_017007907.3 → XP_016863396.1  WD repeat and FYVE domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      H0Y9T6
      Conserved Domains (7) summary
      smart01026
      Location:2713 → 2994
      Beach; Beige/BEACH domain
      COG2319
      Location:3062 → 3265
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2552 → 2675
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3467 → 3531
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1452 → 1572
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3102 → 3143
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3102 → 3264
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    24. XM_017007906.3 → XP_016863395.1  WD repeat and FYVE domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      H0Y9T6
      Conserved Domains (7) summary
      smart01026
      Location:2713 → 2994
      Beach; Beige/BEACH domain
      COG2319
      Location:3062 → 3265
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:2552 → 2675
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      cd15719
      Location:3467 → 3531
      FYVE_WDFY3; FYVE domain found in WD40 repeat and FYVE domain-containing protein 3 (WDFY3) and similar proteins
      pfam15787
      Location:1452 → 1572
      DUF4704; Domain of unknown function (DUF4704)
      sd00039
      Location:3102 → 3143
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3102 → 3264
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    25. XM_047449852.1 → XP_047305808.1  WD repeat and FYVE domain-containing protein 3 isoform X4

      UniProtKB/Swiss-Prot
      Q4W5K5, Q6P0Q5, Q8IZQ1, Q8N1T2, Q8NAV6, Q96BS7, Q96D33, Q96N85, Q9Y2J7

    26. XM_047449860.1 → XP_047305816.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    27. XM_011531766.3 → XP_011530068.1  WD repeat and FYVE domain-containing protein 3 isoform X12

      Conserved Domains (2) summary
      pfam15787
      Location:1452 → 1572
      DUF4704; Domain of unknown function (DUF4704)
      cl22861
      Location:1209 → 1268
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    28. XM_011531767.3 → XP_011530069.1  WD repeat and FYVE domain-containing protein 3 isoform X13

      Conserved Domains (2) summary
      pfam15787
      Location:1452 → 1572
      DUF4704; Domain of unknown function (DUF4704)
      cl22861
      Location:1209 → 1268
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      87999582..88296708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349317.1 → XP_054205292.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    2. XM_054349334.1 → XP_054205309.1  WD repeat and FYVE domain-containing protein 3 isoform X10

    3. XM_054349326.1 → XP_054205301.1  WD repeat and FYVE domain-containing protein 3 isoform X4

      UniProtKB/Swiss-Prot
      Q4W5K5, Q6P0Q5, Q8IZQ1, Q8N1T2, Q8NAV6, Q96BS7, Q96D33, Q96N85, Q9Y2J7

    4. XM_054349336.1 → XP_054205311.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    5. XM_054349333.1 → XP_054205308.1  WD repeat and FYVE domain-containing protein 3 isoform X10

    6. XM_054349316.1 → XP_054205291.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    7. XM_054349325.1 → XP_054205300.1  WD repeat and FYVE domain-containing protein 3 isoform X4

      UniProtKB/Swiss-Prot
      Q4W5K5, Q6P0Q5, Q8IZQ1, Q8N1T2, Q8NAV6, Q96BS7, Q96D33, Q96N85, Q9Y2J7

    8. XM_054349327.1 → XP_054205302.1  WD repeat and FYVE domain-containing protein 3 isoform X4

      UniProtKB/Swiss-Prot
      Q4W5K5, Q6P0Q5, Q8IZQ1, Q8N1T2, Q8NAV6, Q96BS7, Q96D33, Q96N85, Q9Y2J7

    9. XM_054349330.1 → XP_054205305.1  WD repeat and FYVE domain-containing protein 3 isoform X7

    10. XM_054349331.1 → XP_054205306.1  WD repeat and FYVE domain-containing protein 3 isoform X8

    11. XM_054349332.1 → XP_054205307.1  WD repeat and FYVE domain-containing protein 3 isoform X9

    12. XM_054349328.1 → XP_054205303.1  WD repeat and FYVE domain-containing protein 3 isoform X5

    13. XM_054349329.1 → XP_054205304.1  WD repeat and FYVE domain-containing protein 3 isoform X6

    14. XM_054349323.1 → XP_054205298.1  WD repeat and FYVE domain-containing protein 3 isoform X2

    15. XM_054349324.1 → XP_054205299.1  WD repeat and FYVE domain-containing protein 3 isoform X3

    16. XM_054349320.1 → XP_054205295.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    17. XM_054349322.1 → XP_054205297.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    18. XM_054349319.1 → XP_054205294.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    19. XM_054349318.1 → XP_054205293.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    20. XM_054349335.1 → XP_054205310.1  WD repeat and FYVE domain-containing protein 3 isoform X11

    21. XM_054349321.1 → XP_054205296.1  WD repeat and FYVE domain-containing protein 3 isoform X1

    22. XM_054349337.1 → XP_054205312.1  WD repeat and FYVE domain-containing protein 3 isoform X12

    23. XM_054349338.1 → XP_054205313.1  WD repeat and FYVE domain-containing protein 3 isoform X13

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178583.2: Suppressed sequence

      Description
      NM_178583.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_178585.2: Suppressed sequence

      Description
      NM_178585.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZQ1.2 GenPept UniProtKB/Swiss-Prot:Q8IZQ1

    Gene LinkOut

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