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

Gene ID: 51479, updated on 26-May-2016
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 HPRD:09717; MIM:607927; Vega:OTTHUMG00000177727
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]
Orthologs
Location:
17p13.3
Exon count:
30
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (4163371..4264008, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4066665..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 RNA, 5S ribosomal pseudogene 434 Neighboring gene cytochrome b5 domain containing 2 Neighboring gene stem-loop binding protein pseudogene Neighboring gene receptor-like tyrosine kinase pseudogene 1 Neighboring gene ubiquitin conjugating enzyme E2 G1 Neighboring gene major facilitator superfamily domain containing 1 pseudogene 1 Neighboring gene SPNS sphingolipid transporter 3 (putative)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI 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.
NHGRI GWA Catalog

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1255, DKFZp686M19106

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi to lysosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
endosomal vesicle fusion IDA
Inferred from Direct Assay
more info
PubMed 
endosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of pinocytosis IDA
Inferred from Direct Assay
more info
PubMed 
retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
macropinosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with retromer complex IDA
Inferred from Direct Assay
more info
PubMed 
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

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_001257999.1NP_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)
    AB033081, AC087292
    Consensus CDS
    CCDS58502.1
    UniProtKB/Swiss-Prot
    Q9P2R3
    Related
    ENSP00000459943, OTTHUMP00000257555, ENST00000570535, OTTHUMT00000438703
    Conserved Domains (5) summary
    smart00225
    Location:111198
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:209277
    BACK; BTB And C-terminal Kelch
    cd00204
    Location:9081034
    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 ...
    pfam12796
    Location:771876
    Ank_2; Ankyrin repeats (3 copies)
    cd15728
    Location:11431205
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
  2. NM_016376.3NP_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)
    AC087292, AK057047, DA856905
    Consensus CDS
    CCDS42236.1
    UniProtKB/Swiss-Prot
    Q9P2R3
    UniProtKB/TrEMBL
    B3KPZ0
    Related
    ENSP00000459775, OTTHUMP00000257557, ENST00000574367, OTTHUMT00000438705
    Conserved Domains (6) summary
    smart00225
    Location:69156
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:167235
    BACK; BTB And C-terminal Kelch
    cd00204
    Location:867993
    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 ...
    pfam12796
    Location:730835
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:353408
    Ank_5; Ankyrin repeats (many copies)
    cd15728
    Location:11021164
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins

RNA

  1. NR_047571.1 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)
    AC087292, AK057047, AL706226

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    4163371..4264008 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523927.1XP_011522229.1  

    Conserved Domains (5) summary
    smart00225
    Location:111198
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:209277
    BACK; BTB And C-terminal Kelch
    cd00204
    Location:9091035
    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 ...
    pfam12796
    Location:772877
    Ank_2; Ankyrin repeats (3 copies)
    cl22851
    Location:11441168
    PHD_SF; PHD finger superfamily
  2. XM_011523926.1XP_011522228.1  

    Conserved Domains (5) summary
    smart00225
    Location:111198
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:209277
    BACK; BTB And C-terminal Kelch
    cd00204
    Location:9091035
    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 ...
    pfam12796
    Location:772877
    Ank_2; Ankyrin repeats (3 copies)
    cd15728
    Location:11441206
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
  3. XM_011523931.1XP_011522233.1  

    See identical proteins and their annotated locations for XP_011522233.1

    Conserved Domains (5) summary
    smart00225
    Location:4997
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:108176
    BACK; BTB And C-terminal Kelch
    cd00204
    Location:808934
    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 ...
    pfam12796
    Location:671776
    Ank_2; Ankyrin repeats (3 copies)
    cd15728
    Location:10431105
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
  4. XM_011523929.1XP_011522231.1  

    See identical proteins and their annotated locations for XP_011522231.1

    Conserved Domains (6) summary
    smart00225
    Location:56143
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:154222
    BACK; BTB And C-terminal Kelch
    cd00204
    Location:854980
    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 ...
    pfam12796
    Location:717822
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:340395
    Ank_5; Ankyrin repeats (many copies)
    cd15728
    Location:10891151
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
  5. XM_011523930.1XP_011522232.1  

    See identical proteins and their annotated locations for XP_011522232.1

    Conserved Domains (5) summary
    smart00225
    Location:4997
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:108176
    BACK; BTB And C-terminal Kelch
    cd00204
    Location:808934
    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 ...
    pfam12796
    Location:671776
    Ank_2; Ankyrin repeats (3 copies)
    cd15728
    Location:10431105
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
  6. XM_011523928.1XP_011522230.1  

    See identical proteins and their annotated locations for XP_011522230.1

    Conserved Domains (6) summary
    smart00225
    Location:56143
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:154222
    BACK; BTB And C-terminal Kelch
    cd00204
    Location:854980
    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 ...
    pfam12796
    Location:717822
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:340395
    Ank_5; Ankyrin repeats (many copies)
    cd15728
    Location:10891151
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
  7. XM_011523933.1XP_011522235.1  

    Conserved Domains (4) summary
    cd00204
    Location:405531
    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 ...
    pfam00023
    Location:2860
    Ank; Ankyrin repeat
    pfam12796
    Location:268373
    Ank_2; Ankyrin repeats (3 copies)
    cd15728
    Location:640702
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
  8. XM_005256679.2XP_005256736.1  

    See identical proteins and their annotated locations for XP_005256736.1

    UniProtKB/Swiss-Prot
    Q9P2R3
    Related
    ENSP00000343362, OTTHUMP00000257554, ENST00000341657, OTTHUMT00000438702
    Conserved Domains (6) summary
    smart00225
    Location:69156
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:167235
    BACK; BTB And C-terminal Kelch
    cd00204
    Location:866992
    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 ...
    pfam12796
    Location:729834
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:353408
    Ank_5; Ankyrin repeats (many copies)
    cd15728
    Location:11011163
    FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins
  9. XM_011523932.1XP_011522234.1  

    Conserved Domains (4) summary
    smart00225
    Location:111198
    BTB; Broad-Complex, Tramtrack and Bric a brac
    smart00875
    Location:209277
    BACK; BTB And C-terminal Kelch
    cd00204
    Location:292429
    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 ...
    pfam12796
    Location:589692
    Ank_2; Ankyrin repeats (3 copies)

RNA

  1. XR_934043.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    4075451..4176034 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.