Gene Gene information from NCBI Gene database.
Entrez ID 51479
Gene name Ankyrin repeat and FYVE domain containing 1
Gene symbol ANKFY1
Synonyms (NCBI Gene)
ANKHZNBTBD23ZFYVE14
Chromosome 17
Chromosome location 17p13.2
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 finge
miRNA miRNA information provided by mirtarbase database.
1186
miRTarBase ID miRNA Experiments Reference
MIRT001572 hsa-miR-155-5p pSILAC 18668040
MIRT020203 hsa-miR-130b-3p Sequencing 20371350
MIRT001572 hsa-miR-155-5p Proteomics;Other 18668040
MIRT022005 hsa-miR-128-3p Sequencing 20371350
MIRT023719 hsa-miR-1-3p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15328530, 20562859, 22284051, 27189942
GO:0005737 Component Cytoplasm IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005768 Component Endosome IDA
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607927 20763 ENSG00000185722
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2R3
Protein name Rabankyrin-5 (Rank-5) (Ankyrin repeat and FYVE domain-containing protein 1) (Ankyrin repeats hooked to a zinc finger motif)
Protein function Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytos
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 58 160 BTB/POZ domain Domain
PF13637 Ank_4 264 309 Repeat
PF00023 Ank 323 365 Ankyrin repeat Repeat
PF13857 Ank_5 477 528 Repeat
PF00023 Ank 542 575 Ankyrin repeat Repeat
PF12796 Ank_2 593 685 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 756 834 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 894 969 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 910 1003 Ankyrin repeats (3 copies) Repeat
PF01363 FYVE 1103 1165 FYVE zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: High expression in whole adult brain and intermediate expression in all other tissues and specific brain regions examined, including fetal brain. {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:10940552}.
Sequence
MAEEEVAKLEKHLMLLRQEYVKLQKKLAETEKRCALLAAQANKESSSESFISRLLAIVAD
LYEQEQYSDLKIKVGDRHISAHKFVLAARSDSWSLANLSSTKELDLSDANPEVTMTMLRW
IYTDELEFREDDVFLTELMKLANRFQLQLLRERCEKGVMS
LVNVRNCIRFYQTAEELNAS
TLMNYCAEIIASHWDDLRKEDFSSMSAQLLYKMIKSKTEYPLHKAIKVEREDVVFLYLIE
MDSQLPGKLNEADHNGDLALDLALSRRLESIATTLVSHKADVDMVDKSGWSLLHKGIQRG
DLFAATFLI
KNGAFVNAATLGAQETPLHLVALYSSKKHSADVMSEMAQIAEALLQAGANP
NMQDS
KGRTPLHVSIMAGNEYVFSQLLQCKQLDLELKDHEGSTALWLAVQHITVSSDQSV
NPFEDVPVVNGTSFDENSFAARLIQRGSHTDAPDTATGNCLLQRAAGAGNEAAALFLATN
GAHVNHRNKWGETPLHTACRHGLANLTAELLQQGANPNLQTEEALPLP
KEAASLTSLADS
VHLQTPLHMAIAYNHPDVVSVILEQKANALHATNNLQIIPDFSLKDSRDQTVLGLALWTG
MHTIAAQLLGSGAAINDTMSDGQTLLHMAIQRQDSKSALFLLEHQADINVRTQDGETALQ
LAIRNQLPLVVDAICTRGADMSVPD
EKGNPPLWLALANNLEDIASTLVRHGCDATCWGPG
PGGCLQTLLHRAIDENNEPTACFLIRSGCDVNSPRQPGANGEGEEEARDGQTPLHLAASW
GLEETVQCLLEFGANVNAQDAEGRTPIHVAISSQHGVIIQLLVSHPDIHLNVRD
RQGLTP
FACAMTFKNNKSAEAILKRESGAAEQVDNKGRNFLHVAVQNSDIESVLFLISVHANVNSR
VQDASKLTP
LHLAVQAGSEIIVRNLLLAGAKVNELTKHRQTALHLAAQQDLPTICSVLLE
NGVDFAAVD
ENGNNALHLAVMHGRLNNIRVLLTECTVDAEAFN
LRGQSPLHILGQYGKEN
AAAIFDLFLECMPGYPLDKPDADGSTVLLLAYMKGNANLCRAIVRSGARLGVNNNQGVNI
FNYQVATKQLLFRLLDMLSKEPPWCDGSYCYECTARFGVTTRKHHCRHCGRLLCHKCSTK
EIPIIKFDLNKPVRVCNICFDVLTL
GGVS
Sequence length 1169
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKFY1-related disorder Benign; Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 40542379 Associate
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 26598068 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm CTD_human_DG 26039340
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome Genetic Steroid-Resistant Nephrotic Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of urinary bladder Urinary bladder cancer CTD_human_DG 26039340
★☆☆☆☆
Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE Nephritis ORPHANET_DG 29959197
★☆☆☆☆
Found in Text Mining only