SLC12A9
entrez
56996
canonical
uniprot
Q9BXP2
canonical
ensembl
ENSG00000146828
resolver
ensp
ENSP00000275730
resolver
ensp
ENSP00000413796
resolver
ensp
ENSP00000443702
resolver
ensp
ENSP00000526669
resolver
ensp
ENSP00000526670
resolver
ensp
ENSP00000526681
resolver
ensp
ENSP00000526684
resolver
ensp
ENSP00000608744
resolver
ensp
ENSP00000608745
resolver
ensp
ENSP00000641275
resolver
genesymbol
SLC12A9
resolver
genesymbol_syn
CCC6
resolver
genesymbol_syn
CIP1
resolver
hgnc
HGNC:17435
resolver
uniprot
B7Z740
resolver
uniprot
D6W5X0
resolver
uniprot
D6W5X2
resolver
uniprot
F5H8C2
resolver
uniprot
Q9BWL2
resolver
uniprot
Q9BXP1
resolver
uniprot
Q9BYI0
resolver
uniprot
Q9NQR5
resolver
uniprot_entry
S12A9_HUMAN
resolver
uniprot_sec
B7Z740
resolver
uniprot_sec
D6W5X0
resolver
uniprot_sec
D6W5X2
resolver
uniprot_sec
F5H8C2
resolver
uniprot_sec
Q9BWL2
resolver
uniprot_sec
Q9BXP1
resolver
uniprot_sec
Q9BYI0
resolver
uniprot_sec
Q9NQR5
resolver
amino_acid_sequence
MASESSPLLAYRLLGEEGVALPANGAGGPGGASARKLSTFLGVVVPTVLSMFSIVVFLRIGFVVGHAGLLQALAMLLVAYFILALTVLSVCAIATNGAVQGGGAYFMISRTLGPEVGGSIGLMFYLANVCGCAVSLLGLVESVLDVFGADATGPSGLRVLPQGYGWNLLYGSLLLGLVGGVCTLGAGLYARASFLTFLLVSGSLASVLISFVAVGPRDIRLTPRPGPNGSSLPPRFGHFTGFNSSTLKDNLGAGYAEDYTTGAVMNFASVFAVLFNGCTGIMAGANMSGELKDPSRAIPLGTIVAVAYTFFVYVLLFFLSSFTCDRTLLQEDYGFFRAISLWPPLVLIGIYATALSASMSSLIGASRILHALARDDLFGVILAPAKVVSRGGNPWAAVLYSWGLVQLVLLAGKLNTLAAVVTVFYLVAYAAVDLSCLSLEWASAPNFRPTFSLFSWHTCLLGVASCLLMMFLISPGAAGGSLLLMGLLAALLTARGGPSSWGYVSQALLFHQVRKYLLRLDVRKDHVKFWRPQLLLLVGNPRGALPLLRLANQLKKGGLYVLGHVTLGDLDSLPSDPVQPQYGAWLSLVDRAQVKAFVDLTLSPSVRQGAQHLLRISGLGGMKPNTLVLGFYDDAPPQDHFLTDPAFSEPADSTREGSSPALSTLFPPPRAPGSPRALNPQDYVATVADALKMNKNVVLARASGALPPERLSRGSGGTSQLHHVDVWPLNLLRPRGGPGYVDVCGLFLLQMATILGMVPAWHSARLRIFLCLGPREAPGAAEGRLRALLSQLRIRAEVQEVVWGEGAGAGEPEAEEEGDFVNSGRGDAEAEALARSANALVRAQQGRGTGGGPGGPEGGDAEGPITALTFLYLPRPPADPARYPRYLALLETLTRDLGPTLLVHGVTPVTCTDL
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in SLC12A9 may play a role in a neurodevelopmental disorder characterized by hypotonia, failure to thrive, moderate to severe developmental delay and intellectual disability, pale hair, eyebrows and eyelashes, and variable presence of seizures, congenital heart defects, skeletal, and brain anomalies. {ECO:0000269|PubMed:38334070}.
uniprot
proteins
function
FUNCTION: May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function (PubMed:10871601). May play a role in lysosomal ion flux and osmoregulation (PubMed:38334070). {ECO:0000269|PubMed:10871601, ECO:0000269|PubMed:38334070}.
uniprot
proteins
mass_dalton
96110
uniprot
proteins
protein_family
SLC12A transporter family
uniprot
proteins
pubmed
10871601
uniprot
proteins
pubmed
11239002
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
38334070
uniprot
proteins
sequence_length
914
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10871601}; Multi-pass membrane protein {ECO:0000269|PubMed:10871601}. Lysosome membrane {ECO:0000269|PubMed:38334070}.
uniprot
proteins
transmembrane_region
TRANSMEM 37..57; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 73..93; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 120..140; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 168..188; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 194..214; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 263..283; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 298..318; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 339..359; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 391..411; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 417..437; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 467..487; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 741..761; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins