SNX14
entrez
57231
canonical
uniprot
Q9Y5W7
canonical
ensembl
ENSG00000135317
resolver
ensp
ENSP00000257769
resolver
ensp
ENSP00000313121
resolver
ensp
ENSP00000358641
resolver
ensp
ENSP00000427380
resolver
ensp
ENSP00000506873
resolver
ensp
ENSP00000506970
resolver
ensp
ENSP00000507188
resolver
ensp
ENSP00000507401
resolver
ensp
ENSP00000507444
resolver
ensp
ENSP00000507491
resolver
ensp
ENSP00000507742
resolver
ensp
ENSP00000507777
resolver
ensp
ENSP00000507869
resolver
ensp
ENSP00000507950
resolver
ensp
ENSP00000508127
resolver
ensp
ENSP00000508327
resolver
ensp
ENSP00000573387
resolver
ensp
ENSP00000573388
resolver
ensp
ENSP00000619711
resolver
ensp
ENSP00000649746
resolver
enst
ENST00000682171
resolver
enst
ENST00000682491
resolver
enst
ENST00000682497
resolver
enst
ENST00000682682
resolver
enst
ENST00000682738
resolver
enst
ENST00000683643
resolver
enst
ENST00000683785
resolver
enst
ENST00000684118
resolver
enst
ENST00000684150
resolver
enst
ENST00000684570
resolver
enst
ENST00000684647
resolver
genesymbol
SNX14
resolver
hgnc
HGNC:14977
resolver
uniprot
A0A804HI30
resolver
uniprot
A0A804HIA1
resolver
uniprot
A0A804HIR3
resolver
uniprot
A0A804HJ91
resolver
uniprot
A0A804HJC6
resolver
uniprot
A0A804HK22
resolver
uniprot
A0A804HK55
resolver
uniprot
A0A804HKC6
resolver
uniprot
A0A804HKJ3
resolver
uniprot
A0A804HKZ1
resolver
uniprot
B4DI55
resolver
uniprot
Q4VBR3
resolver
uniprot
Q5TCF9
resolver
uniprot
Q5TCG0
resolver
uniprot
Q6NUI7
resolver
uniprot
Q6PI37
resolver
uniprot
Q9BSD1
resolver
uniprot_entry
A0A804HI30_HUMAN
resolver
uniprot_entry
A0A804HIA1_HUMAN
resolver
uniprot_entry
A0A804HIR3_HUMAN
resolver
uniprot_entry
A0A804HJ91_HUMAN
resolver
uniprot_entry
A0A804HJC6_HUMAN
resolver
uniprot_entry
A0A804HK22_HUMAN
resolver
uniprot_entry
A0A804HK55_HUMAN
resolver
uniprot_entry
A0A804HKC6_HUMAN
resolver
uniprot_entry
A0A804HKJ3_HUMAN
resolver
uniprot_entry
A0A804HKZ1_HUMAN
resolver
uniprot_entry
SNX14_HUMAN
resolver
uniprot_sec
B4DI55
resolver
uniprot_sec
Q4VBR3
resolver
uniprot_sec
Q5TCF9
resolver
uniprot_sec
Q5TCG0
resolver
uniprot_sec
Q6NUI7
resolver
uniprot_sec
Q6PI37
resolver
uniprot_sec
Q9BSD1
resolver
amino_acid_sequence
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKQLGLQELFPQGHSCAVCGKVKCKRHRPSLLLENYQPWLDLKISSKVDASLSEVLELVLENFVYPWYRDVTDDESFVDELRITLRFFASVLIRRIHKVDIPSIITKKLLKAAMKHIEVIVKARQKVKNTEFLQQAALEEYGPELHVALRSRRDELHYLRKLTELLFPYILPPKATDCRSLTLLIREILSGSVFLPSLDFLADPDTVNHLLIIFIDDSPPEKATEPASPLVPFLQKFAEPRNKKPSVLKLELKQIREQQDLLFRFMNFLKQEGAVHVLQFCLTVEEFNDRILRPELSNDEMLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLLENVFTPMFCHSDEYFRQLLRGAESPTRNSKLNRGSLSLDDFRNTQKRGESFGISRIGSKIKGVFKSTTMEGAMLPNYGVAEGEDDFIEEGIVVMEDDSPVEAVSTPNTPRNLAAWKISIPYVDFFEDPSSERKEKKERIPVFCIDVERNDRRAVGHEPEHWSVYRRYLEFYVLESKLTEFHGAFPDAQLPSKRIIGPKNYEFLKSKREEFQEYLQKLLQHPELSNSQLLADFLSPNGGETQFLDKILPDVNLGKIIKSVPGKLMKEKGQHLEPFIMNFINSCESPKPKPSRPELTILSPTSENNKKLFNDLFKNNANRAENTERKQNQNYFMEVMTVEGVYDYLMYVGRVVFQVPDWLHHLLMGTRILFKNTLEMYTDYYLQCKLEQLFQEHRLVSLITLLRDAIFCENTEPRSLQDKQKGAKQTFEEMMNYIPDLLVKCIGEETKYESIRLLFDGLQQPVLNKQLTYVLLDIVIQELFPELNKVQKEVTSVTSWM
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, autosomal recessive, 20 (SCAR20) [MIM:616354]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability. {ECO:0000269|PubMed:25439728, ECO:0000269|PubMed:25848753, ECO:0000269|PubMed:26443249}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes (PubMed:25848753). Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:25148684, PubMed:25848753). {ECO:0000250|UniProtKB:Q8BHY8, ECO:0000269|PubMed:25148684, ECO:0000269|PubMed:25848753, ECO:0000305|PubMed:25848753}.
uniprot
proteins
mass_dalton
110182
uniprot
proteins
protein_family
Sorting nexin family
uniprot
proteins
pubmed
11485546
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25148684
uniprot
proteins
pubmed
25439728
uniprot
proteins
pubmed
25848753
uniprot
proteins
pubmed
26443249
uniprot
proteins
sequence_length
946
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:25848753}; Multi-pass membrane protein {ECO:0000305}. Late endosome membrane {ECO:0000269|PubMed:25848753}; Multi-pass membrane protein {ECO:0000305}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q8BHY8}.
uniprot
proteins
transmembrane_region
TRANSMEM 24..44; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 49..69; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins