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SLC39A4 1223_1227del [plasma membrane]
Stable Identifier
R-HSA-5654119
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
hZIP4, Zinc transporter ZIP4, S39A4_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) (Homo sapiens)
Defective SLC39A4 does not transport Zn2+ from extracellular region to cytosol (Homo sapiens)
SLC39A4 mutants [plasma membrane] (Homo sapiens)
SLC39A4 1223_1227del [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q6P5W5 SLC39A4
Gene Names
SLC39A4, ZIP4
Chain
signal peptide:1-22, chain:23-647
Reference Genes
BioGPS Gene:55630 SLC39A4
COSMIC (genes):SLC39A4 SLC39A4
CTD Gene:55630 SLC39A4
dbSNP Gene:55630 SLC39A4
ENSEMBL:ENSG00000147804 SLC39A4
HGNC:17129 SLC39A4
KEGG:hsa:55630 SLC39A4
Monarch:55630 SLC39A4
NCBI Gene:55630 SLC39A4
OMIM:607059 SLC39A4
UCSC:Q6P5W5 SLC39A4
Reference Transcript
RefSeq:NM_130849.3 SLC39A4
RefSeq:NM_017767.2 SLC39A4
RefSeq:NM_017767.3 SLC39A4
RefSeq:NM_130849.4 SLC39A4
Other Identifiers
11754505_a_at
17082655
219215_PM_s_at
219215_s_at
3158574
3158575
3158576
3158580
3158582
3158583
3158584
3158585
3158586
3158587
3158588
3158589
3158590
3158591
3158592
3158593
3158594
3158595
3158596
3158598
3158600
3158601
3158602
3158603
3158604
3158605
3158606
3158607
3158608
46675_at
55630
8153762
A_23_P20502
A_24_P204954
A_33_P3240353
GE55446
GO:0005215
GO:0005385
GO:0005768
GO:0005886
GO:0006829
GO:0006882
GO:0008270
GO:0015701
GO:0016020
GO:0016324
GO:0030001
GO:0030003
GO:0031410
GO:0034224
GO:0042802
GO:0043226
GO:0046872
GO:0046873
GO:0055038
GO:0055085
GO:0071577
GO:0071578
GO:0106219
GO:0140299
GO:0140313
GO:0140410
GO:0140486
HMNXSV003000219
ILMN_1694801
ILMN_1715668
PH_hs_0035924
TC08001749.hg
g8923304_3p_a_at
Participates
as a member of
SLC39A4 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC39A4 [plasma membrane]
SLC39A4 L549del [plasma membrane]
SLC39A4 G330D [plasma membrane]
SLC39A4 P200L [plasma membrane]
SLC39A4 Q323Qfs*25 [plasma membrane]
SLC39A4 G512W [plasma membrane]
SLC39A4 G526R [plasma membrane]
SLC39A4 R95C [plasma membrane]
Modified Residues
Name
Deletion of residues 1223 to 1227
Disease
Name
Identifier
Synonyms
acrodermatitis enteropathica
DOID:0050605
Cross References
RefSeq
NP_060237.3
,
NP_060237.2
,
NP_570901.3
,
NP_570901.2
Guide to Pharmacology - Targets
1183
ENSEMBL
ENSP00000301305
,
ENSP00000276833
,
ENST00000276833
,
ENSG00000147804
,
ENST00000301305
OpenTargets
ENSG00000147804
GeneCards
SLC39A4
HPA
ENSG00000147804-SLC39A4
PRO
Q6P5W5
Pharos - Targets
Q6P5W5
GlyGen
Q6P5W5
Orphanet
SLC39A4
HMDB Protein
HMDBP11937
Interactors (19)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q8NC56 LEMD2
1
LEMD2 [nuclear envelope]
(R-HSA-3067329)
0.643
4
UniProt:Q9NRW7 VPS45
2
VPS45 [Golgi membrane]
(R-HSA-6811025)
VPS45 [endosome membrane]
(R-HSA-1011607)
0.643
3
UniProt:P43304 GPD2
1
GPD2 [mitochondrial inner membrane]
(R-HSA-188469)
0.527
2
UniProt:Q96AJ9 VTI1A
2
VTI1A [trans-Golgi network membrane]
(R-HSA-6813927)
VTI1A [Golgi membrane]
(R-HSA-6811035)
0.527
2
UniProt:O00519 FAAH
1
FAAH [endoplasmic reticulum membrane]
(R-HSA-5693746)
0.527
2
UniProt:Q16706 MAN2A1
2
MAN2A1 [transport vesicle]
(R-HSA-8847487)
MAN2A1 [Golgi membrane]
(R-HSA-975823)
0.527
2
UniProt:O43909 EXTL3
2
EXTL3 [Golgi membrane]
(R-HSA-9941179)
EXTL3 [endoplasmic reticulum membrane]
(R-HSA-535476)
0.527
2
UniProt:Q7Z7B1 PIGW
1
PIGW [endoplasmic reticulum membrane]
(R-HSA-162693)
0.527
2
UniProt:Q9BYC5 FUT8
1
FUT8 [Golgi membrane]
(R-HSA-1028782)
0.527
3
UniProt:Q9BTX1 NDC1
1
NDC1 [nuclear envelope]
(R-HSA-6805183)
0.527
2
UniProt:O15228 GNPAT
3
GNPAT [cytosol]
(R-HSA-9033129)
GNPAT [peroxisomal membrane]
(R-HSA-1500605)
GNPAT [peroxisomal matrix]
(R-HSA-53413)
0.527
2
UniProt:Q09328 MGAT5
1
MGAT5 [Golgi membrane]
(R-HSA-975896)
0.527
2
UniProt:P17302 GJA1
7
GJA1 [Golgi-associated vesicle membrane]
(R-HSA-190544)
GJA1 [plasma membrane]
(R-HSA-158058)
p-Y265-GJA1 [plasma membrane]
(R-HSA-191657)
GJA1 [lysosomal membrane]
(R-HSA-196173)
GJA1 [endoplasmic reticulum membrane]
(R-HSA-190654)
GJA1 [Golgi membrane]
(R-HSA-190649)
p-S373-GJA1 [plasma membrane]
(R-HSA-9857671)
0.527
2
UniProt:P26572 MGAT1
1
MGAT1 [endoplasmic reticulum-Golgi intermediate compartment membrane]
(R-HSA-964750)
0.527
2
UniProt:P18031 PTPN1
2
PTPN1 [endosome membrane]
(R-HSA-9815895)
PTPN1 [cytosol]
(R-HSA-210625)
0.527
3
UniProt:P17706 PTPN2
3
PTPN2 [nucleoplasm]
(R-HSA-9008891)
PTPN2 [cytosol]
(R-HSA-997292)
p-PTPN2 [cytosol]
(R-HSA-9836510)
0.527
2
UniProt:O14975 SLC27A2
5
SLC27A2 [peroxisomal membrane]
(R-HSA-389579)
SLC27A2 [endoplasmic reticulum membrane]
(R-HSA-193386)
SLC27A2 [specific granule membrane]
(R-HSA-6799565)
SLC27A2 [plasma membrane]
(R-HSA-6806316)
SLC27A2 [cytosol]
(R-HSA-9033090)
0.527
2
UniProt:Q14435 GALNT3
5
GALNT3 C574G [Golgi membrane]
(R-HSA-6785545)
GALNT3 Q592* [Golgi membrane]
(R-HSA-6785551)
GALNT3 T272K [Golgi membrane]
(R-HSA-6785542)
GALNT3 R162* [Golgi membrane]
(R-HSA-6785543)
GALNT3 [Golgi membrane]
(R-HSA-913620)
0.527
2
UniProt:Q96K12 FAR2
1
FAR2 [peroxisomal membrane]
(R-HSA-390430)
0.527
2
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