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

Summary

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 MIM:607927; AllianceGenome:HGNC:20763
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]
Expression: Ubiquitous expression in brain (RPKM 13.4), ovary (RPKM 10.3) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17p13.2

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (4163821..4263979, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (4053058..4153220, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (4067115..4167274, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ANKFY1 is essential for retinal endothelial cell proliferation and migration via VEGFR2/Akt/eNOS pathway.
Title: ANKFY1 is essential for retinal endothelial cell proliferation and migration via VEGFR2/Akt/eNOS pathway.
Rabankyrin-5 is required for internalization and trafficking of the PDGF receptor.
Title: RhoD binds the Rab5 effector Rabankyrin-5 and has a role in trafficking of the platelet-derived growth factor receptor.
Rabankyrin-5 interacts with EHD1 and Vps26 to regulate endocytic trafficking and retromer function
Title: Rabankyrin-5 interacts with EHD1 and Vps26 to regulate endocytic trafficking and retromer function.
Rab5 regulates and coordinates different endocytic mechanisms through its effector Rabankyrin-5
Title: The Rab5 effector Rabankyrin-5 regulates and coordinates different endocytic mechanisms.
Characterization of the related mouse gene
Title: Molecular cloning of a novel 130-kDa cytoplasmic protein, Ankhzn, containing Ankyrin repeats hooked to a zinc finger motif.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI 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. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-85035 (e-PCR)
- UniSTS:103426

RH118775 (e-PCR)
- UniSTS:138764

D14S567 (e-PCR)
- UniSTS:149808

WI-12317 (e-PCR)
- UniSTS:82038

RH103073 (e-PCR)
- UniSTS:97407

G54313 (e-PCR)
- UniSTS:116116

G54287 (e-PCR)
- UniSTS:116123

G54294 (e-PCR)
- UniSTS:116130

G54297 (e-PCR)
- UniSTS:116133

SHGC-36655 (e-PCR)
- UniSTS:81079

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IDA Inferred from Direct Assay more info	PubMed

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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
involved_in endosomal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal vesicle fusion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of pinocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in retrograde transport, endosome to Golgi	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde transport, endosome to Golgi	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info
is_active_in endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	HDA more info	PubMed
located_in macropinosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
part_of retromer complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

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

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

NM_001257999.3 → NP_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)

AA897044, AB033081, AC087292

Consensus CDS

CCDS58502.1

UniProtKB/TrEMBL

B3KPZ0

Related

ENSP00000459943.1, ENST00000570535.5

Conserved Domains (8) summary

smart00225
Location:111 → 198

BTB; Broad-Complex, Tramtrack and Bric a brac

smart00875
Location:209 → 277

BACK; BTB And C-terminal Kelch

cd00204
Location:908 → 1034

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:1143 → 1205

FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins

pfam00651
Location:102 → 198

BTB; BTB/POZ domain

pfam12796
Location:917 → 1011

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:395 → 450

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:768 → 809

ANK; ANK repeat [structural motif]
NM_001330063.2 → NP_001316992.1 rabankyrin-5 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AA897044, AC087292, AC087742

Consensus CDS

CCDS82038.1

UniProtKB/Swiss-Prot

A8KA65, Q5RKV4, Q9P2R3, Q9ULG5

UniProtKB/TrEMBL

B3KPZ0

Related

ENSP00000343362.4, ENST00000341657.9
NM_016376.5 → NP_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)

AA897044, AC087292, AK057047, DA856905

Consensus CDS

CCDS42236.1

UniProtKB/TrEMBL

B3KPZ0

Related

ENSP00000459775.1, ENST00000574367.5

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:867 → 993

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:1102 → 1164

FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins

pfam00651
Location:60 → 156

BTB; BTB/POZ domain

pfam12796
Location:876 → 970

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:353 → 408

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:727 → 768

ANK; ANK repeat [structural motif]

RNA

NR_047571.3 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)

AA897044, AC087292, AK057047, AL706226

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

4163821..4263979 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436224.1 → XP_047292180.1 rabankyrin-5 isoform X5

UniProtKB/TrEMBL

B3KPZ0
XM_047436223.1 → XP_047292179.1 rabankyrin-5 isoform X4

UniProtKB/TrEMBL

B3KPZ0
XM_017024733.2 → XP_016880222.1 rabankyrin-5 isoform X2

UniProtKB/TrEMBL

B3KPZ0
XM_047436221.1 → XP_047292177.1 rabankyrin-5 isoform X1

UniProtKB/TrEMBL

B3KPZ0
XM_011523926.2 → XP_011522228.1 rabankyrin-5 isoform X3

UniProtKB/TrEMBL

B3KPZ0

Conserved Domains (8) summary

smart00225
Location:111 → 198

BTB; Broad-Complex, Tramtrack and Bric a brac

smart00875
Location:209 → 277

BACK; BTB And C-terminal Kelch

cd00204
Location:909 → 1035

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:1144 → 1206

FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins

pfam00651
Location:102 → 198

BTB; BTB/POZ domain

pfam12796
Location:918 → 1012

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:395 → 450

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:769 → 810

ANK; ANK repeat [structural motif]
XM_047436225.1 → XP_047292181.1 rabankyrin-5 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

4053058..4153220 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316397.1 → XP_054172372.1 rabankyrin-5 isoform X5

UniProtKB/TrEMBL

B3KPZ0
XM_054316396.1 → XP_054172371.1 rabankyrin-5 isoform X4

UniProtKB/TrEMBL

B3KPZ0
XM_054316394.1 → XP_054172369.1 rabankyrin-5 isoform X2

UniProtKB/TrEMBL

B3KPZ0
XM_054316393.1 → XP_054172368.1 rabankyrin-5 isoform X1

UniProtKB/TrEMBL

B3KPZ0
XM_054316398.1 → XP_054172373.1 rabankyrin-5 isoform X5

UniProtKB/TrEMBL

B3KPZ0
XM_054316395.1 → XP_054172370.1 rabankyrin-5 isoform X3

UniProtKB/TrEMBL

B3KPZ0
XM_054316399.1 → XP_054172374.1 rabankyrin-5 isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.