ANKFY1 - ankyrin repeat and FYVE domain containing 1 Gene

Also Known as ANKHZN; BTBD23; ZFYVE14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51479

About ANKFY1

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:4,163,821-4,263,979 (from NCBI)

This gene has 14 transcripts (splice variants), 211 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 13.4), ovary (RPKM 10.3) and 25 other tissues.

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]

ANKFY1 Products (3)

mRNA Protein Name
NM_001257999.3 NP_001244928.1 rabankyrin-5 isoform 3
NM_001330063.2 NP_001316992.1 rabankyrin-5 isoform 4
NM_016376.5 NP_057460.3 rabankyrin-5 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables phosphatidylinositol phosphate binding IDA
IDA: Inferred from direct assay
15328530 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15328530 GOA
enables small GTPase binding IDA
IDA: Inferred from direct assay
15328530 GOA
Biological Process GO Annotation Evidence References Source
involved in Golgi to lysosome transport IMP
IMP: Inferred from mutant phenotype
22284051 GOA
involved in endosomal transport IMP
IMP: Inferred from mutant phenotype
24102721 GOA
involved in endosomal vesicle fusion IDA
IDA: Inferred from direct assay
15328530 GOA
involved in positive regulation of pinocytosis IDA
IDA: Inferred from direct assay
15328530 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: Inferred from mutant phenotype
22284051 GOA
Cellular Component GO Annotation Evidence References Source
located in early endosome IDA
IDA: Inferred from direct assay
15328530 GOA
located in macropinosome IDA
IDA: Inferred from direct assay
15328530 GOA
located in membrane IDA
IDA: Inferred from direct assay
10940552 GOA
part of retromer complex IDA
IDA: Inferred from direct assay
22284051 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANKFY1 Protein Structure

BTB

BTB: BTB/POZ domain (60 - 156)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (293 - 397)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (443 - 520)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (547 - 651)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (729 - 831)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (910 - 994)

FYVE

FYVE: FYVE zinc finger (1108 - 1163)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1169 a.a.
Protein Preferred Names Protein Names

rabankyrin-5

  • Rabankyrin-5

ANKFY1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ANKFY1 Q9P2R3 EHD3 Homo sapiens Q9NZN3
Pull Down
27189942
Intra
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
ITC
22284051
Intra
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
Pull Down
27189942
Intra
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
Y2H
27189942
Intra
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
Confocal
22284051
Intra
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
Anti Tag CoIP
22284051
Intra
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
Y2H
22284051
Intra
ANKFY1 Q9P2R3 GABARAPL2 Homo sapiens P60520
Pull Down
20562859
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Genetic Steroid-Resistant Nephrotic Syndrome

  • Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

  • Genetic Srns

  • Hereditary Steroid-Resistant Nephrotic Syndrome

  • Familial Idiopathic Nephrotic Syndrome

  • Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

  • Srn1
Human Monocytic Ehrlichiosis

  • Ehrlichiosis Chafeensis

  • Hme

  • Human Ehrlichial Infection, Human Monocytic Type
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00705 ANKFY1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ANKFY1 VGNC VGNC:69651
Rattus norvegicus ANKFY1 RGD RGD:1309598
Canis familiaris ANKFY1 VGNC VGNC:37872
Felis catus ANKFY1 VGNC VGNC:59789
Mus musculus ANKFY1 MGD MGI:1337008
Bos taurus ANKFY1 VGNC VGNC:25900
Others ANKFY1 NCBI