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    ANKFY1 ankyrin repeat and FYVE domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 51479, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ANKFY1provided by HGNC
    Official Full Name
    ankyrin repeat and FYVE domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:20763
    See related
    Ensembl:ENSG00000185722 MIM:607927; AllianceGenome:HGNC:20763
    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
    ANKHZN; BTBD23; ZFYVE14
    Summary
    This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]
    Expression
    Ubiquitous expression in brain (RPKM 13.4), ovary (RPKM 10.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKFY1 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4163821..4263979, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4053058..4153220, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4067115..4167274, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene zinc finger ZZ-type and EF-hand domain containing 1 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11534 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4046085-4046636 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4046637-4047189 Neighboring gene uncharacterized LOC124903898 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:4072633-4072788 Neighboring gene cytochrome b5 domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4080295-4080794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4079793-4080294 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:4081807-4083006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4089981-4090980 Neighboring gene stem-loop histone mRNA binding protein pseudogene Neighboring gene MPRA-validated peak2695 silencer Neighboring gene RYK pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11537 Neighboring gene uncharacterized LOC124904156 Neighboring gene ubiquitin conjugating enzyme E2 G1 Neighboring gene major facilitator superfamily domain containing 1 pseudogene 1

    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. ANKFY1 is essential for retinal endothelial cell proliferation and migration via VEGFR2/Akt/eNOS pathway. Tanaka M, et al. Biochem Biophys Res Commun, 2020 Dec 17. PMID 33092793
    2. Cullin-3 and its adaptor protein ANKFY1 determine the surface level of integrin β1 in endothelial cells. Maekawa M, et al. Biol Open, 2017 Nov 15. PMID 29038302, Free PMC Article
    3. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Bouslam N, et al. Hum Genet, 2007 May. PMID 17273843
    4. Molecular cloning of a novel 130-kDa cytoplasmic protein, Ankhzn, containing Ankyrin repeats hooked to a zinc finger motif. Ito K, et al. Biochem Biophys Res Commun, 1999 Apr 2. PMID 10092534
    5. Characterization and chromosomal mapping of a novel human gene, ANKHZN. Kuriyama H, et al. Gene, 2000 Aug 8. PMID 10940552

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ANKFY1 is essential for retinal endothelial cell proliferation and migration via VEGFR2/Akt/eNOS pathway.
      Title: ANKFY1 is essential for retinal endothelial cell proliferation and migration via VEGFR2/Akt/eNOS pathway.
    2. Rabankyrin-5 is required for internalization and trafficking of the PDGF receptor.
      Title: RhoD binds the Rab5 effector Rabankyrin-5 and has a role in trafficking of the platelet-derived growth factor receptor.
    3. Rabankyrin-5 interacts with EHD1 and Vps26 to regulate endocytic trafficking and retromer function
      Title: Rabankyrin-5 interacts with EHD1 and Vps26 to regulate endocytic trafficking and retromer function.
    4. Rab5 regulates and coordinates different endocytic mechanisms through its effector Rabankyrin-5
      Title: The Rab5 effector Rabankyrin-5 regulates and coordinates different endocytic mechanisms.
    5. Characterization of the related mouse gene
      Title: Molecular cloning of a novel 130-kDa cytoplasmic protein, Ankhzn, containing Ankyrin repeats hooked to a zinc finger motif.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of ankyrin repeat and FYVE domain containing 1 (ANKFY1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1255, DKFZp686M19106

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol phosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi to lysosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosomal vesicle fusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of pinocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lysosomal membrane HDA PubMed 
    located_in macropinosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of retromer complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    rabankyrin-5
    Names
    Rabankyrin-5
    ankyrin repeat and FYVE domain-containing protein 1
    ankyrin repeat hooked to zinc finger motif
    ankyrin repeats hooked to a zinc finger motif
    rank-5

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001257999.3 → NP_001244928.1  rabankyrin-5 isoform 3

      See identical proteins and their annotated locations for NP_001244928.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, has multiple differences in the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AA897044, AB033081, AC087292
      Consensus CDS
      CCDS58502.1
      UniProtKB/TrEMBL
      B3KPZ0
      Related
      ENSP00000459943.1, ENST00000570535.5
      Conserved Domains (8) summary
      smart00225
      Location:111 → 198
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:209 → 277
      BACK; BTB And C-terminal Kelch
      cd00204
      Location:908 → 1034
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd15728
      Location:1143 → 1205
      FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
      pfam00651
      Location:102 → 198
      BTB; BTB/POZ domain
      pfam12796
      Location:917 → 1011
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:395 → 450
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:768 → 809
      ANK; ANK repeat [structural motif]

    2. NM_001330063.2 → NP_001316992.1  rabankyrin-5 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AA897044, AC087292, AC087742
      Consensus CDS
      CCDS82038.1
      UniProtKB/Swiss-Prot
      A8KA65, Q5RKV4, Q9P2R3, Q9ULG5
      UniProtKB/TrEMBL
      B3KPZ0
      Related
      ENSP00000343362.4, ENST00000341657.9

    3. NM_016376.5 → NP_057460.3  rabankyrin-5 isoform 1

      See identical proteins and their annotated locations for NP_057460.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1).
      Source sequence(s)
      AA897044, AC087292, AK057047, DA856905
      Consensus CDS
      CCDS42236.1
      UniProtKB/TrEMBL
      B3KPZ0
      Related
      ENSP00000459775.1, ENST00000574367.5
      Conserved Domains (8) summary
      smart00225
      Location:69 → 156
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:167 → 235
      BACK; BTB And C-terminal Kelch
      cd00204
      Location:867 → 993
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd15728
      Location:1102 → 1164
      FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
      pfam00651
      Location:60 → 156
      BTB; BTB/POZ domain
      pfam12796
      Location:876 → 970
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:353 → 408
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:727 → 768
      ANK; ANK repeat [structural motif]

    RNA

    1. NR_047571.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA897044, AC087292, AK057047, AL706226

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4163821..4263979 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436224.1 → XP_047292180.1  rabankyrin-5 isoform X5

    2. XM_047436223.1 → XP_047292179.1  rabankyrin-5 isoform X4

    3. XM_017024733.2 → XP_016880222.1  rabankyrin-5 isoform X2

      UniProtKB/TrEMBL
      B3KPZ0

    4. XM_047436221.1 → XP_047292177.1  rabankyrin-5 isoform X1

    5. XM_011523926.2 → XP_011522228.1  rabankyrin-5 isoform X3

      UniProtKB/TrEMBL
      B3KPZ0
      Conserved Domains (8) summary
      smart00225
      Location:111 → 198
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:209 → 277
      BACK; BTB And C-terminal Kelch
      cd00204
      Location:909 → 1035
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd15728
      Location:1144 → 1206
      FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
      pfam00651
      Location:102 → 198
      BTB; BTB/POZ domain
      pfam12796
      Location:918 → 1012
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:395 → 450
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:769 → 810
      ANK; ANK repeat [structural motif]

    6. XM_047436225.1 → XP_047292181.1  rabankyrin-5 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4053058..4153220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316397.1 → XP_054172372.1  rabankyrin-5 isoform X5

    2. XM_054316396.1 → XP_054172371.1  rabankyrin-5 isoform X4

    3. XM_054316394.1 → XP_054172369.1  rabankyrin-5 isoform X2

    4. XM_054316393.1 → XP_054172368.1  rabankyrin-5 isoform X1

    5. XM_054316398.1 → XP_054172373.1  rabankyrin-5 isoform X5

    6. XM_054316395.1 → XP_054172370.1  rabankyrin-5 isoform X3

    7. XM_054316399.1 → XP_054172374.1  rabankyrin-5 isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020740.2: Suppressed sequence

      Description
      NM_020740.2: 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
    Q9P2R3.2 GenPept UniProtKB/Swiss-Prot:Q9P2R3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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