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Ankfy1 ankyrin repeat and FYVE domain containing 1 [ Mus musculus (house mouse) ]

Gene ID: 11736, updated on 2-Nov-2024

Summary

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Official Symbol
Ankfy1provided by MGI
Official Full Name
ankyrin repeat and FYVE domain containing 1provided by MGI
Primary source
MGI:MGI:1337008
See related
Ensembl:ENSMUSG00000020790 AllianceGenome:MGI:1337008
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ankhzn; ZFYVE14; mKIAA1255
Summary
Predicted to enable phosphatidylinositol phosphate binding activity and small GTPase binding activity. Predicted to be involved in cytosolic transport; endosomal vesicle fusion; and positive regulation of pinocytosis. Located in endosome membrane. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; eye; and genitourinary system. Used to study Charlevoix-Saguenay spastic ataxia. Orthologous to human ANKFY1 (ankyrin repeat and FYVE domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in CNS E18 (RPKM 14.1), large intestine adult (RPKM 13.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Ankfy1 in Genome Data Viewer
Location:
11 B4; 11 44.47 cM
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (72580828..72662972)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (72690002..72772146)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_29914 Neighboring gene predicted gene, 51906 Neighboring gene predicted gene 12712 Neighboring gene STARR-positive B cell enhancer ABC_E2360 Neighboring gene STARR-positive B cell enhancer ABC_E5245 Neighboring gene ubiquitin-conjugating enzyme E2G 1 Neighboring gene predicted gene, 24143 Neighboring gene STARR-seq mESC enhancer starr_29916 Neighboring gene STARR-positive B cell enhancer ABC_E7012 Neighboring gene predicted gene, 46287 Neighboring gene STARR-positive B cell enhancer ABC_E8424 Neighboring gene cytochrome b5 domain containing 2 Neighboring gene zinc finger, ZZ-type with EF hand domain 1 Neighboring gene signal recognition particle receptor ('docking protein') pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Ankfy1 Is Involved in the Maintenance of Cerebellar Purkinje Cells. Chang L, et al. Front Cell Neurosci, 2021. PMID 33796010, Free PMC Article
  2. [Possible involvement of Ankhzn, a novel protein possessing FYVE domain, in cellular endocytosis and autophagocytosis in vitro]. Ishii N, et al. Kaibogaku Zasshi, 2003 Jun. PMID 12833855
  3. 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
  4. Characterization and chromosomal mapping of a novel human gene, ANKHZN. Kuriyama H, et al. Gene, 2000 Aug 8. PMID 10940552
  5. Ankfy1 is dispensable for neural stem/precursor cell development. Weng C, et al. Neural Regen Res, 2016 Nov. PMID 28123425, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. is essential for the formation of endocytotic and autophagocytotic vesicles.
    Title: [Possible involvement of Ankhzn, a novel protein possessing FYVE domain, in cellular endocytosis and autophagocytosis in vitro].
  2. Rab5 regulates and coordinates different endocytic mechanisms through its effector Rabankyrin-5
    Title: The Rab5 effector Rabankyrin-5 regulates and coordinates different endocytic mechanisms.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Gene trapped (1) 
  • Targeted (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol phosphate binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol phosphate binding ISO
Inferred from Sequence Orthology
more info
  
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
  
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in Golgi to lysosome transport ISO
Inferred from Sequence Orthology
more info
  
involved_in endocytosis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in endosomal transport ISO
Inferred from Sequence Orthology
more info
  
involved_in endosomal vesicle fusion IEA
Inferred from Electronic Annotation
more info
  
involved_in endosomal vesicle fusion ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of pinocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of pinocytosis ISO
Inferred from Sequence Orthology
more info
  
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde transport, endosome to Golgi IEA
Inferred from Electronic Annotation
more info
  
involved_in retrograde transport, endosome to Golgi ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in early endosome IEA
Inferred from Electronic Annotation
more info
  
located_in early endosome ISO
Inferred from Sequence Orthology
more info
  
located_in endosome ISO
Inferred from Sequence Orthology
more info
  
is_active_in endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in macropinosome IEA
Inferred from Electronic Annotation
more info
  
located_in macropinosome ISO
Inferred from Sequence Orthology
more info
  
located_in membrane ISO
Inferred from Sequence Orthology
more info
  
part_of retromer complex IEA
Inferred from Electronic Annotation
more info
  
part_of retromer complex ISO
Inferred from Sequence Orthology
more info
  

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 a zinc finger motif
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_009671.5 → NP_033801.4  rabankyrin-5

    See identical proteins and their annotated locations for NP_033801.4

    Status: VALIDATED

    Source sequence(s)
    AL663082, AL808023
    Consensus CDS
    CCDS24989.1
    UniProtKB/Swiss-Prot
    B1ATS3, O54807, Q80TG6, Q80UH8, Q810B6
    UniProtKB/TrEMBL
    B7ZP20
    Related
    ENSMUSP00000118751.2, ENSMUST00000155998.2
    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:866 → 992
    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:1101 → 1163
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
    pfam00651
    Location:61 → 156
    BTB; BTB/POZ domain
    pfam12796
    Location:875 → 969
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:353 → 408
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:726 → 767
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    72580828..72662972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030245484.2 → XP_030101344.1  rabankyrin-5 isoform X2

    Conserved Domains (4) summary
    PHA02876
    Location:22 → 384
    PHA02876; ankyrin repeat protein; Provisional
    PHA03095
    Location:247 → 538
    PHA03095; ankyrin-like protein; Provisional
    cd15728
    Location:646 → 708
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
    sd00045
    Location:271 → 312
    ANK; ANK repeat [structural motif]

  2. XM_036156245.1 → XP_036012138.1  rabankyrin-5 isoform X1

    UniProtKB/TrEMBL
    B7ZP20
    Conserved Domains (7) summary
    PHA03095
    Location:544 → 835
    PHA03095; ankyrin-like protein; Provisional
    COG0666
    Location:391 → 590
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd15728
    Location:943 → 1005
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
    sd00045
    Location:568 → 609
    ANK; ANK repeat [structural motif]
    cd18501
    Location:4 → 92
    BACK_ANKFY1_Rank5; BACK (BTB and C-terminal Kelch) domain found in rabankyrin-5 (Rank-5)
    pfam13637
    Location:101 → 151
    Ank_4; Ankyrin repeats (many copies)
    cl39094
    Location:149 → 411
    Ank_2; Ankyrin repeats (3 copies)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q810B6.2 GenPept UniProtKB/Swiss-Prot:Q810B6

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