SLC30A9
entrez
10463
canonical
uniprot
Q6PML9
canonical
ensembl
ENSG00000014824
resolver
ensp
ENSP00000264451
resolver
ensp
ENSP00000710363
resolver
enst
ENST00000264451
resolver
genesymbol
SLC30A9
resolver
genesymbol_syn
C4orf1
resolver
genesymbol_syn
HUEL
resolver
hgnc
HGNC:1329
resolver
uniprot
A0A0S2Z512
resolver
uniprot
A0A0S2Z514
resolver
uniprot
Q4W5B6
resolver
uniprot
Q7Z5I7
resolver
uniprot
Q8TBB2
resolver
uniprot
Q9Y6R2
resolver
uniprot_entry
A0A0S2Z512_HUMAN
resolver
uniprot_entry
A0A0S2Z514_HUMAN
resolver
uniprot_entry
ZNT9_HUMAN
resolver
uniprot_sec
Q4W5B6
resolver
uniprot_sec
Q7Z5I7
resolver
uniprot_sec
Q8TBB2
resolver
uniprot_sec
Q9Y6R2
resolver
amino_acid_sequence
MLPGLAAAAAHRCSWSSLCRLRLRCRAAACNPSDRQEWQNLVTFGSFSNMVPCSHPYIGTLSQVKLYSTNVQKEGQGSQTLRVEKVPSFETAEGIGTELKAPLKQEPLQVRVKAVLKKREYGSKYTQNNFITGVRAINEFCLKSSDLEQLRKIRRRSPHEDTESFTVYLRSDVEAKSLEVWGSPEALAREKKLRKEAEIEYRERLFRNQKILREYRDFLGNTKPRSRTASVFFKGPGKVVMVAICINGLNCFFKFLAWIYTGSASMFSEAIHSLSDTCNQGLLALGISKSVQTPDPSHPYGFSNMRYISSLISGVGIFMMGAGLSWYHGVMGLLHPQPIESLLWAYCILAGSLVSEGATLLVAVNELRRNARAKGMSFYKYVMESRDPSTNVILLEDTAAVLGVIIAATCMGLTSITGNPLYDSLGSLGVGTLLGMVSAFLIYTNTEALLGRSIQPEQVQRLTELLENDPSVRAIHDVKATDLGLGKVRFKAEVDFDGRVVTRSYLEKQDFDQMLQEIQEVKTPEELETFMLKHGENIIDTLGAEVDRLEKELKKRNPEVRHVDLEIL
uniprot
proteins
disease_involvement
DISEASE: Birk-Landau-Perez syndrome (BILAPES) [MIM:617595]: An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy. {ECO:0000269|PubMed:28334855, ECO:0000269|PubMed:34433664, ECO:0000269|PubMed:34716203}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial proton-coupled zinc ion antiporter mediating the export of zinc from the mitochondria and involved in zinc homeostasis, zinc mobilization as well as mitochondrial morphology and health (PubMed:28334855, PubMed:34397090, PubMed:34433664, PubMed:35614220). In nucleus, functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes (By similarity). {ECO:0000250|UniProtKB:Q5IRJ6, ECO:0000269|PubMed:28334855, ECO:0000269|PubMed:34397090, ECO:0000269|PubMed:34433664, ECO:0000269|PubMed:35614220}.
uniprot
proteins
mass_dalton
63515
uniprot
proteins
protein_family
Cation diffusion facilitator (CDF) transporter (TC 2.A.4) family
uniprot
proteins
protein_family
SLC30A subfamily
uniprot
proteins
pubmed
10409434
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28334855
uniprot
proteins
pubmed
34397090
uniprot
proteins
pubmed
34433664
uniprot
proteins
pubmed
34716203
uniprot
proteins
pubmed
35614220
uniprot
proteins
sequence_length
568
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:34397090, ECO:0000269|PubMed:35614220}; Multi-pass membrane protein {ECO:0000305}. Nucleus {ECO:0000269|PubMed:10409434}. Endoplasmic reticulum {ECO:0000269|PubMed:28334855}. Note=Partial co-localization with endoplasmic reticulum (PubMed:28334855). Linked to mitochondrial ribosomes (PubMed:35614220). {ECO:0000269|PubMed:10409434, ECO:0000269|PubMed:28334855, ECO:0000269|PubMed:35614220}.
uniprot
proteins
transmembrane_region
TRANSMEM 239..259; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 314..334; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 342..362; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 392..412; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 424..444; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins