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ANKFY1 (ankyrin repeat and FYVE domain containing 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51479
Gene nameGene Name - the full gene name approved by the HGNC.
Ankyrin repeat and FYVE domain containing 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ANKFY1
SynonymsGene synonyms aliases
ANKHZN, BTBD23, ZFYVE14
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
Causal
Disease name Disease term dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 30595370
Unknown
Disease name Disease term dbSNP ID References
Urinary bladder cancer Malignant neoplasm of urinary bladder 26039340
Bladder neoplasm Bladder Neoplasm 26039340
Genetic steroid-resistant nephrotic syndrome Genetic steroid-resistant nephrotic syndrome
Nephritis NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 29959197

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