SLCtables

SLC39A4

Protein name: ZIP4 Aliases: N/D Substrates: Zn Transport type: N/D Tissue and cellular expression: gastrointestinal tract, kidney hippocampal neurons Subcellular expression: plasma membrane, apical surface of enterocytes, lysosomes Disease: AE, pancreatic cancer, liver cancer Locus: 8q24.3 Sequence ID: NP_060237.2, NM_017767.2 NP_570901.2, NM_130849.2 Gene ID: 55630 Splice variants: N/D

S39A4_HUMAN (UniProt)

Gene names: SLC39A4, ZIP4
Protein names and data: S39A4_HUMAN, Full=Zinc transporter ZIP4, Full=Solute carrier family 39 member 4;Full=Zrt- and Irt-like protein 4;Short=ZIP-4;Flags: Precursor; Length: 647 a.a., Mass: 68392 Da,
fasta formatted sequence
Function: Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity)
Disease: (OMIM: 201100 607059) Defects in SLC39A4 are the cause of acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]. AEZ is a rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. All these manifestations are reversible with zinc supplementation. Without zinc therapy this disease is fatal
Cellular location: Cell membrane; Multi-pass membrane protein. Recycling endosome membrane; Multi-pass membrane protein. Note=Colocalized with TFRC in the recycling endosomes. Cycles between endosomal compartments and the plasma membrane in response to zinc availability
Tissue specificity: Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum

Database cross-references

UniProt: Q6P5W5
NextBio: 60265
OMIM: 201100 607059
Ensembl: ENST00000301305
GeneCard: GC08M144409
TCDB: 2.A.5.4.1
PharmGenUCSF: SLC39A4
Guide to Pharmacology: SLC39A4 (1183)
SLC39 family of metal ion transporters (1183)
HGNC: HGNC:17129

Genetic variants

See also Ensembl:ENST00000301305

22 - 22 A -> E (in dbSNP:rs2280839). VAR_060487 2280839
58 - 58 A -> T (in dbSNP:rs2280838). VAR_023627 2280838
84 - 84 P -> L (in AEZ; unknown pathological significance). VAR_023628
95 - 95 R -> C (in AEZ). VAR_023629
106 - 106 N -> K (in AEZ). VAR_023630
114 - 114 A -> T (in dbSNP:rs17855765). VAR_023631 17855765
158 - 158 T -> M (in dbSNP:rs1871533). VAR_057481 1871533
200 - 200 P -> L (in AEZ). VAR_023632
251 - 251 R -> W (in AEZ; unknown pathological significance; dbSNP:rs2977838). VAR_023633 2977838
284 - 284 E -> K (in dbSNP:rs7823979). VAR_057482 7823979
303 - 303 Q -> H (in AEZ). VAR_023634
309 - 309 C -> Y (in AEZ; unknown pathological significance). VAR_023635
330 - 330 G -> D (in AEZ). VAR_023636
357 - 357 T -> A (in dbSNP:rs2272662). VAR_023637 2272662
372 - 372 L -> P (in AEZ). VAR_023638
372 - 372 L -> V (in dbSNP:rs1871534). VAR_057483 1871534
374 - 374 G -> R (in AEZ). VAR_023639
378 - 378 L -> V (in dbSNP:rs4483198). VAR_060488 4483198
410 - 410 L -> P (in AEZ; unknown pathological significance). VAR_023640
526 - 526 G -> R (in AEZ). VAR_023641
630 - 630 G -> R (in AEZ). VAR_023642