ANKRD27
entrez
84079
canonical
uniprot
Q96NW4
canonical
ensembl
ENSG00000105186
resolver
ensp
ENSP00000304292
resolver
ensp
ENSP00000549752
resolver
ensp
ENSP00000590915
resolver
ensp
ENSP00000634199
resolver
enst
ENST00000306065
resolver
enst
ENST00000879693
resolver
enst
ENST00000920856
resolver
enst
ENST00000964140
resolver
genesymbol
ANKRD27
resolver
hgnc
HGNC:25310
resolver
uniprot
Q71MF5
resolver
uniprot
Q86UC3
resolver
uniprot
Q8ND80
resolver
uniprot
Q9H0I4
resolver
uniprot_entry
ANR27_HUMAN
resolver
uniprot_sec
Q71MF5
resolver
uniprot_sec
Q86UC3
resolver
uniprot_sec
Q8ND80
resolver
uniprot_sec
Q9H0I4
resolver
amino_acid_sequence
MALYDEDLLKNPFYLALQKCRPDLCSKVAQIHGIVLVPCKGSLSSSIQSTCQFESYILIPVEEHFQTLNGKDVFIQGNRIKLGAGFACLLSVPILFEETFYNEKEESFSILCIAHPLEKRESSEEPLAPSDPFSLKTIEDVREFLGRHSERFDRNIASFHRTFRECERKSLRHHIDSANALYTKCLQQLLRDSHLKMLAKQEAQMNLMKQAVEIYVHHEIYNLIFKYVGTMEASEDAAFNKITRSLQDLQQKDIGVKPEFSFNIPRAKRELAQLNKCTSPQQKLVCLRKVVQLITQSPSQRVNLETMCADDLLSVLLYLLVKTEIPNWMANLSYIKNFRFSSLAKDELGYCLTSFEAAIEYIRQGSLSAKPPESEGFGDRLFLKQRMSLLSQMTSSPTDCLFKHIASGNQKEVERLLSQEDHDKDTVQKMCHPLCFCDDCEKLVSGRLNDPSVVTPFSRDDRGHTPLHVAAVCGQASLIDLLVSKGAMVNATDYHGATPLHLACQKGYQSVTLLLLHYKASAEVQDNNGNTPLHLACTYGHEDCVKALVYYDVESCRLDIGNEKGDTPLHIAARWGYQGVIETLLQNGASTEIQNRLKETPLKCALNSKILSVMEAYHLSFERRQKSSEAPVQSPQRSVDSISQESSTSSFSSMSASSRQEETKKDYREVEKLLRAVADGDLEMVRYLLEWTEEDLEDAEDTVSAADPEFCHPLCQCPKCAPAQKRLAKVPASGLGVNVTSQDGSSPLHVAALHGRADLIPLLLKHGANAGARNADQAVPLHLACQQGHFQVVKCLLDSNAKPNKKDLSGNTPLIYACSGGHHELVALLLQHGASINASNNKGNTALHEAVIEKHVFVVELLLLHGASVQVLNKRQRTAVDCAEQNSKIMELLQVVPSCVASLDDVAETDRKEYVTVKIRKKWNSKLYDLPDEPFTRQFYFVHSAGQFKGKTSREIMARDRSVPNLTEGSLHEPGRQSVTLRQNNLPAQSGSHAAEKGNSDWPERPGLTQTGPGHRRMLRRHTVEDAVVSQGPEAAGPLSTPQEVSASRS
uniprot
proteins
function
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 complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation (PubMed:23104059). Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the function seems to require its GEF activity, probably towards Rab21, and VAMP7 but not Rab32/38 (By similarity). Proposed to be involved in Golgi sorting of VAMP7 and transport of VAMP7 vesicles to the cell surface; the function seems to implicate kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21 and MACF1 (PubMed:22705394). Required for the colocalization of VAMP7 and Rab21, probably on TGN sites (PubMed:19745841). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with VPS29 (PubMed:24856514). Regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). {ECO:0000250|UniProtKB:Q3UMR0, ECO:0000269|PubMed:23104059, ECO:0000269|PubMed:24856514, ECO:0000305|PubMed:16525121, ECO:0000305|PubMed:18477474, ECO:0000305|PubMed:22705394}.
uniprot
proteins
mass_dalton
116984
uniprot
proteins
mutagenesis
MUTAGEN 432; /note="H->A: Disrupts interaction with VPS29; when associated with A-434."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 434; /note="L->A: Disrupts interaction with VPS29; when associated with A-432."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 509; /note="Q->A: Disrupts interaction with RAB32."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 513; /note="L->D: Disrupts interaction with RAB32."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 546; /note="K->D: Impairs interaction with RAB32."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 550; /note="Y->A: Impairs interaction with RAB32."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 679; /note="D->A: Disrupts interaction with VAMP7."; /evidence="ECO:0000269|PubMed:23104059"; MUTAGEN 681; /note="D->A: Disrupts interaction with VAMP7."; /evidence="ECO:0000269|PubMed:23104059"; MUTAGEN 684; /note="M->D: Disrupts interaction with VAMP7."; /evidence="ECO:0000269|PubMed:23104059"; MUTAGEN 687; /note="Y->S: Disrupts interaction with VAMP7."; /evidence="ECO:0000269|PubMed:23104059"; MUTAGEN 712; /note="H->A: Disrupts interaction with VPS29; when associated with A-714."; /evidence="ECO:0000269|PubMed:24856514"; MUTAGEN 714; /note="L->A: Disrupts interaction with VPS29; when associated with A-712."; /evidence="ECO:0000269|PubMed:24856514
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16525121
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18477474
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19745841
uniprot
proteins
pubmed
21808068
uniprot
proteins
pubmed
22705394
uniprot
proteins
pubmed
23104059
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24856514
uniprot
proteins
sequence_length
1050
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:16525121, ECO:0000269|PubMed:24856514}. Late endosome {ECO:0000269|PubMed:23104059}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:23104059}. Lysosome {ECO:0000269|PubMed:23104059}. Cell membrane {ECO:0000269|PubMed:23104059}. Melanosome {ECO:0000250|UniProtKB:Q3UMR0}. Note=Colocalizes with VAMP7 in transport vesicles in the shaft of hippocampal neurons (By similarity). {ECO:0000250|UniProtKB:Q3UMR0}.
uniprot
proteins