ANKFY1 - ankyrin repeat and FYVE domain containing 1 Gene

Homo sapiens

Also known as ANKHZN; BTBD23; ZFYVE14

Gene ID: 51479 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Ank_2

FYVE

0
200
400
600
800
1000
1169 a.a.

Protein Preferred Names

Protein Names

rabankyrin-5

Rabankyrin-5

ANKFY1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00705	ANKFY1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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