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

Gene ID: 51479, updated on 3-Apr-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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Location:
17p13.2
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4163821..4263979, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4053058..4153220, complement)
105.20220307 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 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
  • 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. Characterization and chromosomal mapping of a novel human gene, ANKHZN. Kuriyama H, et al. Gene, 2000 Aug 8. PMID 10940552
  5. 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

See all (75) 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_2023_10

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

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