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Aliases for ANKFY1 Gene

Aliases for ANKFY1 Gene

  • Ankyrin Repeat And FYVE Domain Containing 1 2 3 5
  • Ankyrin Repeat And FYVE Domain-Containing Protein 1 3 4
  • Ankyrin Repeats Hooked To A Zinc Finger Motif 3 4
  • Rabankyrin-5 2 3
  • Rank-5 3 4
  • ANKHZN 3 4
  • Ankyrin Repeat Hooked To Zinc Finger Motif 3
  • KIAA1255 4
  • ZFYVE14 3
  • BTBD23 3

External Ids for ANKFY1 Gene

Previous GeneCards Identifiers for ANKFY1 Gene

  • GC17M004410
  • GC17M004019
  • GC17M004273
  • GC17M004013
  • GC17M004066

Summaries for ANKFY1 Gene

Entrez Gene Summary for ANKFY1 Gene

  • 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]

GeneCards Summary for ANKFY1 Gene

ANKFY1 (Ankyrin Repeat And FYVE Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include Rab GTPase binding and phosphatidylinositol phosphate binding. An important paralog of this gene is TRPA1.

UniProtKB/Swiss-Prot for ANKFY1 Gene

  • Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytosis; the function is dependent on Rab5-GTP. Required for correct endosomal localization. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Regulates the subcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport and biosynthetic transport to late endosomes and lysosomes indicative for a regulation of retromer complex-mediated retrograde transport.

Gene Wiki entry for ANKFY1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKFY1 Gene

Genomics for ANKFY1 Gene

Regulatory Elements for ANKFY1 Gene

Enhancers for ANKFY1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F004373 1.5 FANTOM5 Ensembl ENCODE 10.6 -111.1 -111120 2.7 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 YBX1 BMI1 EGR1 SCRT2 ETV6 ANKFY1 CYB5D2 UBE2G1 GC17P004368 SPNS3
GH17F004215 1.2 Ensembl ENCODE 11.3 +48.2 48212 1.4 CBX3 INSM2 SIN3A KLF17 DEAF1 FEZF1 ZSCAN9 ZNF2 RAD21 RFX5 ANKFY1 CYB5D2 RYKP1 LOC100420060
GH17F004228 1.1 Ensembl ENCODE 11.6 +34.0 33985 2.9 TBP JUN INSM2 SIN3A FEZF1 ZEB1 RFX5 ZBTB48 ZNF366 SMARCC2 LOC100130950 ANKFY1 CYB5D2 RYKP1
GH17F004340 1.1 Ensembl ENCODE 10.6 -78.0 -78019 3.3 HDGF PKNOX1 WRNIP1 ZBTB40 YY1 ZNF121 ZNF366 PRDM10 ZNF600 ZNF362 ANKFY1 CYB5D2 GC17M004334 RN7SL774P
GH17F004219 1 Ensembl ENCODE 11.3 +43.2 43199 1.7 SOX13 ZNF146 ZNF837 ZNF76 CEBPG RARA ZNF7 TEAD3 ZNF664 ZNF366 SHPK ANKFY1 CYB5D2 RYKP1 LOC100420060
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANKFY1 on UCSC Golden Path with GeneCards custom track

Promoters for ANKFY1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001339460 308 1801 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 SP3

Genomic Location for ANKFY1 Gene

Chromosome:
17
Start:
4,163,371 bp from pter
End:
4,264,008 bp from pter
Size:
100,638 bases
Orientation:
Minus strand

Genomic View for ANKFY1 Gene

Genes around ANKFY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKFY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKFY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKFY1 Gene

Proteins for ANKFY1 Gene

  • Protein details for ANKFY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2R3-ANFY1_HUMAN
    Recommended name:
    Rabankyrin-5
    Protein Accession:
    Q9P2R3
    Secondary Accessions:
    • A8KA65
    • Q5RKV4
    • Q9ULG5

    Protein attributes for ANKFY1 Gene

    Size:
    1169 amino acids
    Molecular mass:
    128399 Da
    Quaternary structure:
    • Interacts with RAB5A (in GTP-bound form). Interacts with RHOD (independent of GTP-loaded status). Interacts with EHD1. Interacts with VPS26A; the interaction is indepenedent of EHD1 and is indicative for an association with the cargo recognition subcomplex of the retromer complex.
    SequenceCaution:
    • Sequence=AAH52308.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAA86569.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKFY1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKFY1 Gene

Post-translational modifications for ANKFY1 Gene

  • Ubiquitination at Lys 858, Lys 1088, and Lys 1151
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANKFY1 Gene

Domains & Families for ANKFY1 Gene

Suggested Antigen Peptide Sequences for ANKFY1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2R3

UniProtKB/Swiss-Prot:

ANFY1_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Contains 21 ANK repeats.
Domain:
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 21 ANK repeats.
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with ANKFY1: view

Function for ANKFY1 Gene

Molecular function for ANKFY1 Gene

UniProtKB/Swiss-Prot Function:
Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytosis; the function is dependent on Rab5-GTP. Required for correct endosomal localization. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Regulates the subcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport and biosynthetic transport to late endosomes and lysosomes indicative for a regulation of retromer complex-mediated retrograde transport.

Gene Ontology (GO) - Molecular Function for ANKFY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20562859
GO:0017137 Rab GTPase binding IDA 15328530
GO:0046872 metal ion binding IEA --
GO:1901981 phosphatidylinositol phosphate binding IDA 15328530
genes like me logo Genes that share ontologies with ANKFY1: view
genes like me logo Genes that share phenotypes with ANKFY1: view

Animal Model Products

miRNA for ANKFY1 Gene

miRTarBase miRNAs that target ANKFY1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKFY1 Gene

Localization for ANKFY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKFY1 Gene

Cytoplasm. Endosome membrane; Peripheral membrane protein. Early endosome. Note=Also associated with endosomal membranes. Localizes to macropinosomes. {ECO:0000269 PubMed:15328530}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKFY1 gene
Compartment Confidence
extracellular 5
lysosome 5
endosome 5
cytosol 4

Gene Ontology (GO) - Cellular Components for ANKFY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 15328530
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with ANKFY1: view

Pathways & Interactions for ANKFY1 Gene

SuperPathways for ANKFY1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKFY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0032439 endosome localization IMP 24102721
GO:0034058 endosomal vesicle fusion IDA 15328530
GO:0042147 retrograde transport, endosome to Golgi IMP 22284051
GO:0048549 positive regulation of pinocytosis IDA 15328530
genes like me logo Genes that share ontologies with ANKFY1: view

No data available for Pathways by source and SIGNOR curated interactions for ANKFY1 Gene

Transcripts for ANKFY1 Gene

Unigene Clusters for ANKFY1 Gene

Ankyrin repeat and FYVE domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKFY1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^
SP1: - - - -
SP2: - - - - - -
SP3: -
SP4: - -
SP5: - - - - - - - - - - - - - - - - - - - - - -
SP6:
SP7:
SP8:

ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for ANKFY1 Gene

GeneLoc Exon Structure for
ANKFY1
ECgene alternative splicing isoforms for
ANKFY1

Expression for ANKFY1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKFY1 Gene

Protein differential expression in normal tissues from HIPED for ANKFY1 Gene

This gene is overexpressed in Stomach (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANKFY1 Gene



Protein tissue co-expression partners for ANKFY1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKFY1 Gene:

ANKFY1

SOURCE GeneReport for Unigene cluster for ANKFY1 Gene:

Hs.696087

mRNA Expression by UniProt/SwissProt for ANKFY1 Gene:

Q9P2R3-ANFY1_HUMAN
Tissue specificity: High expression in whole adult brain and intermediate expression in all other tissues and specific brain regions examined, including fetal brain.
genes like me logo Genes that share expression patterns with ANKFY1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ANKFY1 Gene

Orthologs for ANKFY1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKFY1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKFY1 35 34
  • 99.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKFY1 35 34
  • 89.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKFY1 35 34
  • 88.08 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankfy1 35 16 34
  • 87.8 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankfy1 34
  • 87.62 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKFY1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKFY1 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKFY1 34 35
  • 79.18 (n)
lizard
(Anolis carolinensis)
Reptilia ANKFY1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankfy1 34
  • 76.66 (n)
Str.8558 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.9657 34
zebrafish
(Danio rerio)
Actinopterygii ankfy1 35 34
  • 74.85 (n)
OneToOne
Dr.104 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6521 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002243 34
  • 53.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG41099 35 34
  • 49.94 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F22G12.4 35 34
  • 44.89 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5217 34
Species where no ortholog for ANKFY1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ANKFY1 Gene

ENSEMBL:
Gene Tree for ANKFY1 (if available)
TreeFam:
Gene Tree for ANKFY1 (if available)

Paralogs for ANKFY1 Gene

Paralogs for ANKFY1 Gene

(1) SIMAP similar genes for ANKFY1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ANKFY1: view

Variants for ANKFY1 Gene

Sequence variations from dbSNP and Humsavar for ANKFY1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1043587 -- 4,164,258(-) AACCT(A/G)TTACA nc-transcript-variant, utr-variant-3-prime
rs1043592 -- 4,164,021(-) AGGAC(C/T)ACGGC nc-transcript-variant, utr-variant-3-prime
rs1045016 -- 4,166,721(-) ACAAA(C/T)GCTTC nc-transcript-variant, utr-variant-3-prime
rs10521130 -- 4,206,729(+) GGAGA(C/T)GATTA intron-variant
rs10672147 -- 4,240,409(+) TTTTT(-/T/TT)AAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKFY1 Gene

Variant ID Type Subtype PubMed ID
nsv978352 CNV duplication 23825009
nsv833344 CNV gain 17160897
nsv574266 CNV gain 21841781
nsv457647 CNV gain 19166990
nsv1951 CNV insertion 18451855
nsv1065665 CNV gain 25217958
nsv1065237 CNV gain 25217958
nsv1058176 CNV gain 25217958
esv988491 CNV deletion 20482838
esv2762544 CNV gain 21179565
esv2751682 CNV gain 17911159
esv2715550 CNV deletion 23290073
esv2715549 CNV deletion 23290073
esv25467 CNV loss 19812545
esv2471538 CNV deletion 19546169
esv1497662 CNV deletion 17803354
dgv557e214 CNV gain 21293372
dgv3086n100 CNV gain 25217958
dgv173n21 CNV gain 19592680
dgv1681e59 CNV duplication 20981092

Variation tolerance for ANKFY1 Gene

Residual Variation Intolerance Score: 5.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.23; 40.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKFY1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKFY1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKFY1 Gene

Disorders for ANKFY1 Gene

Relevant External Links for ANKFY1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKFY1

No disorders were found for ANKFY1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKFY1 Gene

Publications for ANKFY1 Gene

  1. Characterization and chromosomal mapping of a novel human gene, ANKHZN. (PMID: 10940552) Kuriyama H. … Kuwano R. (Gene 2000) 2 3 4 64
  2. RhoD binds the Rab5 effector Rabankyrin-5 and has a role in trafficking of the platelet-derived growth factor receptor. (PMID: 24102721) Nehru V. … Aspenstroem P. (Traffic 2013) 3 4 64
  3. Rabankyrin-5 interacts with EHD1 and Vps26 to regulate endocytic trafficking and retromer function. (PMID: 22284051) Zhang J. … Caplan S. (Traffic 2012) 3 4 64
  4. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. (PMID: 17273843) Bouslam N. … Stevanin G. (Hum. Genet. 2007) 2 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for ANKFY1 Gene

Sources for ANKFY1 Gene

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