SLC39A7
entrez
7922
canonical
uniprot
Q92504
canonical
ensembl
ENSG00000112473
resolver
ensembl
ENSG00000206288
resolver
ensembl
ENSG00000224399
resolver
ensembl
ENSG00000226614
resolver
ensembl
ENSG00000227402
resolver
ensembl
ENSG00000229802
resolver
ensp
ENSP00000363807
resolver
ensp
ENSP00000363809
resolver
ensp
ENSP00000372700
resolver
ensp
ENSP00000372701
resolver
ensp
ENSP00000389623
resolver
ensp
ENSP00000391735
resolver
ensp
ENSP00000403583
resolver
ensp
ENSP00000407093
resolver
ensp
ENSP00000410656
resolver
ensp
ENSP00000413027
resolver
ensp
ENSP00000414145
resolver
ensp
ENSP00000416439
resolver
enst
ENST00000374675
resolver
enst
ENST00000374677
resolver
enst
ENST00000383213
resolver
enst
ENST00000383214
resolver
enst
ENST00000416369
resolver
enst
ENST00000418477
resolver
enst
ENST00000423043
resolver
enst
ENST00000431735
resolver
enst
ENST00000441854
resolver
enst
ENST00000441953
resolver
enst
ENST00000443773
resolver
enst
ENST00000456261
resolver
genesymbol
SLC39A7
resolver
genesymbol_syn
HKE4
resolver
genesymbol_syn
RING5
resolver
hgnc
HGNC:4927
resolver
uniprot
B0UXF6
resolver
uniprot
B4DZZ8
resolver
uniprot
Q5STP8
resolver
uniprot
Q9UIQ0
resolver
uniprot_entry
B4DZZ8_HUMAN
resolver
uniprot_entry
S39A7_HUMAN
resolver
uniprot_sec
B0UXF6
resolver
uniprot_sec
Q5STP8
resolver
uniprot_sec
Q9UIQ0
resolver
activity_regulation
ACTIVITY REGULATION: Phosphorylation activates zinc transport activity. {ECO:0000269|PubMed:22317921, ECO:0000269|PubMed:28205653}.
uniprot
proteins
amino_acid_sequence
MARGLGAPHWVAVGLLTWATLGLLVAGLGGHDDLHDDLQEDFHGHSHRHSHEDFHHGHSHAHGHGHTHESIWHGHTHDHDHGHSHEDLHHGHSHGYSHESLYHRGHGHDHEHSHGGYGESGAPGIKQDLDAVTLWAYALGATVLISAAPFFVLFLIPVESNSPRHRSLLQILLSFASGGLLGDAFLHLIPHALEPHSHHTLEQPGHGHSHSGQGPILSVGLWVLSGIVAFLVVEKFVRHVKGGHGHSHGHGHAHSHTRGSHGHGRQERSTKEKQSSEEEEKETRGVQKRRGGSTVPKDGPVRPQNAEEEKRGLDLRVSGYLNLAADLAHNFTDGLAIGASFRGGRGLGILTTMTVLLHEVPHEVGDFAILVQSGCSKKQAMRLQLLTAVGALAGTACALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLPELLREASPLQSLLEVLGLLGGVIMMVLIAHLE
uniprot
proteins
disease_involvement
DISEASE: Agammaglobulinemia 9, autosomal recessive (AGM9) [MIM:619693]: A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269|PubMed:30718914}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transports Zn(2+) from the endoplasmic reticulum (ER)/Golgi apparatus to the cytosol, playing an essential role in the regulation of cytosolic zinc levels (PubMed:14525538, PubMed:15705588, PubMed:28205653, PubMed:29980658). Acts as a gatekeeper of zinc release from intracellular stores, requiring post-translational activation by phosphorylation, resulting in activation of multiple downstream pathways leading to cell growth and proliferation (PubMed:22317921, PubMed:28205653, PubMed:29980658). Has an essential role in B cell development and is required for proper B cell receptor signaling (PubMed:30718914). Plays an important role in maintaining intestinal epithelial homeostasis and skin dermis development by regulating ER function (By similarity). Controls cell signaling pathways involved in glucose metabolism in skeletal muscle (By similarity). Has a protective role against ER stress in different biological contexts (PubMed:29980658, PubMed:30237509). Mediates Zn(2+)-induced ferroptosis (PubMed:33608508). {ECO:0000250|UniProtKB:Q31125, ECO:0000269|PubMed:14525538, ECO:0000269|PubMed:15705588, ECO:0000269|PubMed:22317921, ECO:0000269|PubMed:28205653, ECO:0000269|PubMed:29980658, ECO:0000269|PubMed:30237509, ECO:0000269|PubMed:30718914, ECO:0000269|PubMed:33608508}.
uniprot
proteins
mass_dalton
50118
uniprot
proteins
mutagenesis
MUTAGEN 275; /note="S->A: Loss of phosphorylation in response to Zn(2+) treatment and of cytosolic Zn(2+) release; when associated with A-276."; /evidence="ECO:0000269|PubMed:22317921, ECO:0000269|PubMed:28205653"; MUTAGEN 276; /note="S->A: Loss of phosphorylation in response to Zn(2+) treatment and of cytosolic Zn(2+) release; when associated with A-275."; /evidence="ECO:0000269|PubMed:22317921, ECO:0000269|PubMed:28205653"; MUTAGEN 293; /note="S->A: Loss of phosphorylation in response to Zn(2+) treatment and of cytosolic Zn(2+) release."; /evidence="ECO:0000269|PubMed:28205653"; MUTAGEN 294; /note="T->A: Loss of phosphorylation in response to Zn(2+) treatment and of cytosolic Zn(2+) release."; /evidence="ECO:0000269|PubMed:28205653
uniprot
proteins
post_translational_modification
PTM: Rapidly phosphorylated by CK2 following Zn(2+) treatment. This phosphorylation is required for efficient cytosolic Zn(2+) release. {ECO:0000269|PubMed:22317921, ECO:0000269|PubMed:28205653}.; PTM: Methylation at some His residue by METTL9 leads to reduced zinc-binding. {ECO:0000269|PubMed:33563959, ECO:0000269|PubMed:37398635}.
uniprot
proteins
protein_family
KE4/Catsup subfamily
uniprot
proteins
protein_family
ZIP transporter (TC 2.A.5) family
uniprot
proteins
pubmed
14525538
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15705588
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
22317921
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28205653
uniprot
proteins
pubmed
29980658
uniprot
proteins
pubmed
30237509
uniprot
proteins
pubmed
30718914
uniprot
proteins
pubmed
33563959
uniprot
proteins
pubmed
33608508
uniprot
proteins
pubmed
37398635
uniprot
proteins
pubmed
8812499
uniprot
proteins
sequence_length
469
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14525538, ECO:0000269|PubMed:29980658, ECO:0000269|PubMed:30237509, ECO:0000269|PubMed:30718914}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:15705588}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 10..30; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 138..158; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 169..189; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 214..234; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 381..401; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 417..436; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins