Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51479
Gene name Gene Name - the full gene name approved by the HGNC.
Ankyrin repeat and FYVE domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANKFY1
Synonyms (NCBI Gene) Gene synonyms aliases
ANKHZN, BTBD23, ZFYVE14
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15328530, 20562859, 22284051, 27189942
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005768 Component Endosome IDA
GO:0005769 Component Early endosome IDA 15328530
GO:0005829 Component Cytosol IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607927 20763 ENSG00000185722
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
30595370
Unknown
Disease term Disease name Evidence References Source
Nephrotic Syndrome familial idiopathic steroid-resistant nephrotic syndrome GenCC
Diabetes Diabetes GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 40542379
Attention Deficit Disorder with Hyperactivity Associate 26598068