SLC30A7
entrez
148867
canonical
uniprot
Q8NEW0
canonical
ensembl
ENSG00000162695
resolver
ensp
ENSP00000350278
resolver
ensp
ENSP00000359130
resolver
ensp
ENSP00000520907
resolver
ensp
ENSP00000787847
resolver
enst
ENST00000357650
resolver
enst
ENST00000370112
resolver
enst
ENST00000850622
resolver
genesymbol
SLC30A7
resolver
genesymbol_syn
ZNT7
resolver
genesymbol_syn
ZNTL2
resolver
hgnc
HGNC:19306
resolver
uniprot
B2R949
resolver
uniprot
D3DT61
resolver
uniprot
Q8TCH2
resolver
uniprot_entry
ZNT7_HUMAN
resolver
uniprot_sec
B2R949
resolver
uniprot_sec
D3DT61
resolver
uniprot_sec
Q8TCH2
resolver
amino_acid_sequence
MLPLSIKDDEYKPPKFNLFGKISGWFRSILSDKTSRNLFFFLCLNLSFAFVELLYGIWSNCLGLISDSFHMFFDSTAILAGLAASVISKWRDNDAFSYGYVRAEVLAGFVNGLFLIFTAFFIFSEGVERALAPPDVHHERLLLVSILGFVVNLIGIFVFKHGGHGHSHGSGHGHSHSLFNGALDQAHGHVDHCHSHEVKHGAAHSHDHAHGHGHFHSHDGPSLKETTGPSRQILQGVFLHILADTLGSIGVIASAIMMQNFGLMIADPICSILIAILIVVSVIPLLRESVGILMQRTPPLLENSLPQCYQRVQQLQGVYSLQEQHFWTLCSDVYVGTLKLIVAPDADARWILSQTHNIFTQAGVRQLYVQIDFAAM
uniprot
proteins
disease_involvement
DISEASE: Ziegler-Huang syndrome (ZHS) [MIM:620501]: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. ZHS is an autosomal recessive form characterized by growth retardation, testicular hypoplasia, and bone marrow failure with thrombocytopenia and macrocytic anemia appearing in childhood. {ECO:0000269|PubMed:36821639}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Zinc ion transporter mediating zinc entry from the cytosol into the lumen of organelles along the secretory pathway (PubMed:15525635, PubMed:15994300). By contributing to zinc ion homeostasis within the early secretory pathway, regulates the activation and folding of enzymes like alkaline phosphatases (PubMed:15525635, PubMed:15994300). {ECO:0000269|PubMed:15525635, ECO:0000269|PubMed:15994300}.
uniprot
proteins
mass_dalton
41626
uniprot
proteins
protein_family
Cation diffusion facilitator (CDF) transporter (TC 2.A.4) family
uniprot
proteins
protein_family
SLC30A subfamily
uniprot
proteins
pubmed
12446736
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15276077
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15525635
uniprot
proteins
pubmed
15994300
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
36821639
uniprot
proteins
sequence_length
376
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:15525635}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:Q9JKN1}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:Q9JKN1}. Sarcoplasmic reticulum {ECO:0000250|UniProtKB:Q5BJM8}. Mitochondrion {ECO:0000250|UniProtKB:Q5BJM8}. Cytoplasm {ECO:0000250|UniProtKB:Q9JKN1}.
uniprot
proteins
transmembrane_region
TRANSMEM 38..58; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 68..88; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 103..123; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 141..161; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 237..257; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 263..283; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins