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ANKRD27 (ankyrin repeat domain 27)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84079
Gene nameGene Name - the full gene name approved by the HGNC.
Ankyrin repeat domain 27
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ANKRD27
SynonymsGene synonyms aliases
PP12899, VARP
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.11
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002637 hsa-miR-124-3p Microarray 15685193
MIRT002637 hsa-miR-124-3p Microarray 18668037
MIRT002637 hsa-miR-124-3p Microarray 15685193
MIRT050984 hsa-miR-17-5p CLASH 23622248
MIRT042819 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA 21873635
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA 21873635
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 16525121
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 16525121, 19745841, 22705394, 23104059
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q96NW4
Protein name Ankyrin repeat domain-containing protein 27 (VPS9 domain-containing protein)
Protein function May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE comple
PDB 4B93 , 4CYM , 4CZ2 , 6TL0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02204 VPS9
264 367
Vacuolar sorting protein 9 (VPS9) domain
Family
PF12796 Ank_2
401 526
Ankyrin repeats (3 copies)
Repeat
PF12796 Ank_2
500 595
Ankyrin repeats (3 copies)
Repeat
PF12796 Ank_2
673 807
Ankyrin repeats (3 copies)
Repeat
PF12796 Ank_2
781 873
Ankyrin repeats (3 copies)
Repeat
Sequence
MALYDEDLLKNPFYLALQKCRPDLCSKVAQIHGIVLVPCKGSLSSSIQSTCQFESYILIP
VEEHFQTLNGKDVFIQGNRIKLGAGFACLLSVPILFEETFYNEKEESFSILCIAHPLEKR
ESSEEPLAPSDPFSLKTIEDVREFLGRHSERFDRNIASFHRTFRECERKSLRHHIDSANA
LYTKCLQQLLRDSHLKMLAKQEAQMNLMKQAVEIYVHHEIYNLIFKYVGTMEASEDAAFN
KITRSLQDLQQKDIGVKPEFSFNIPRAKRELAQLNKCTSPQQKLVCLRKVVQLITQSPSQ
RVNLETMCADDLLSVLLYLLVKTEIPNWMANLSYIKNFRFSSLAKDELGYCLTSFEAAIE
YIRQGSL
SAKPPESEGFGDRLFLKQRMSLLSQMTSSPTDCLFKHIASGNQKEVERLLSQE
DHDKDTVQKMCHPLCFCDDCEKLVSGRLNDPSVVTPFSRDDRGHTPLHVAAVCGQASLID
LLVSKGAMVNATDYHGATP
LHLACQKGYQSVTLLLLHYKASAEVQDNNGNTPLHLACTYG
HEDCVKALVYYDVESCRLDIGNEKGDTPLHIAARWGYQGVIETLLQNGASTEIQN
RLKET
PLKCALNSKILSVMEAYHLSFERRQKSSEAPVQSPQRSVDSISQESSTSSFSSMSASSRQ
EETKKDYREVEKLLRAVADGDLEMVRYLLEWTEEDLEDAEDTVSAADPEFCHPLCQCPKC
APAQKRLAKVPASGLGVNVTSQDGSSPLHVAALHGRADLIPLLLKHGANAGARNADQAVP
LHLACQQGHFQVVKCLLDSNAKPNKKDLSGNTPLIYACSGGHHELVALLLQHGASINASN
NKGNTALHEAVIEKHVFVVELLLLHGASVQVLN
KRQRTAVDCAEQNSKIMELLQVVPSCV
ASLDDVAETDRKEYVTVKIRKKWNSKLYDLPDEPFTRQFYFVHSAGQFKGKTSREIMARD
RSVPNLTEGSLHEPGRQSVTLRQNNLPAQSGSHAAEKGNSDWPERPGLTQTGPGHRRMLR
RHTVEDAVVSQGPEAAGPLSTPQEVSASRS
Sequence length 1050
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    RAB GEFs exchange GTP for GDP on RABs
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Multiple myeloma Multiple Myeloma rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612 29594489
Unknown
Disease name Disease term dbSNP ID References
Eosinophilia Eosinophilic esophagitis 25407941
Mental depression Major Depressive Disorder rs587778876, rs587778877 23377640

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