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Q6P5W5

- S39A4_HUMAN

UniProt

Q6P5W5 - S39A4_HUMAN

Protein

Zinc transporter ZIP4

Gene

SLC39A4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability By similarity.By similarity

    GO - Molecular functioni

    1. zinc ion transmembrane transporter activity Source: Ensembl

    GO - Biological processi

    1. cellular response to zinc ion starvation Source: Ensembl
    2. cellular zinc ion homeostasis Source: Ensembl
    3. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Ion transport, Transport, Zinc transport

    Keywords - Ligandi

    Zinc

    Enzyme and pathway databases

    ReactomeiREACT_20603. Zinc influx into cells by the SLC39 gene family.

    Protein family/group databases

    TCDBi2.A.5.4.1. the zinc (zn(2+))-iron (fe(2+)) permease (zip) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc transporter ZIP4
    Alternative name(s):
    Solute carrier family 39 member 4
    Zrt- and Irt-like protein 4
    Short name:
    ZIP-4
    Gene namesi
    Name:SLC39A4
    Synonyms:ZIP4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:17129. SLC39A4.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Recycling endosome membrane 1 Publication; Multi-pass membrane protein 1 Publication
    Note: Colocalized with TFRC in the recycling endosomes. Cycles between endosomal compartments and the plasma membrane in response to zinc availability.

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. cytoplasmic membrane-bounded vesicle Source: UniProtKB
    3. extracellular vesicular exosome Source: UniProt
    4. integral component of membrane Source: UniProtKB-KW
    5. plasma membrane Source: UniProtKB
    6. recycling endosome membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Endosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]: 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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti84 – 841P → L in AEZ; unknown pathological significance. 1 Publication
    VAR_023628
    Natural varianti95 – 951R → C in AEZ. 1 Publication
    VAR_023629
    Natural varianti106 – 1061N → K in AEZ. 1 Publication
    VAR_023630
    Natural varianti200 – 2001P → L in AEZ. 1 Publication
    VAR_023632
    Natural varianti251 – 2511R → W in AEZ; unknown pathological significance. 2 Publications
    Corresponds to variant rs2977838 [ dbSNP | Ensembl ].
    VAR_023633
    Natural varianti303 – 3031Q → H in AEZ. 1 Publication
    VAR_023634
    Natural varianti309 – 3091C → Y in AEZ; unknown pathological significance. 2 Publications
    VAR_023635
    Natural varianti330 – 3301G → D in AEZ. 1 Publication
    VAR_023636
    Natural varianti372 – 3721L → P in AEZ. 1 Publication
    VAR_023638
    Natural varianti374 – 3741G → R in AEZ. 1 Publication
    VAR_023639
    Natural varianti410 – 4101L → P in AEZ; unknown pathological significance. 1 Publication
    VAR_023640
    Natural varianti526 – 5261G → R in AEZ. 1 Publication
    VAR_023641
    Natural varianti630 – 6301G → R in AEZ. 1 Publication
    VAR_023642

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi201100. phenotype.
    Orphaneti37. Acrodermatitis enteropathica.
    PharmGKBiPA38204.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 647625Zinc transporter ZIP4PRO_0000042620Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi261 – 2611N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ6P5W5.
    PaxDbiQ6P5W5.
    PRIDEiQ6P5W5.

    PTM databases

    PhosphoSiteiQ6P5W5.

    Expressioni

    Tissue specificityi

    Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum.2 Publications

    Gene expression databases

    ArrayExpressiQ6P5W5.
    BgeeiQ6P5W5.
    CleanExiHS_SLC39A4.
    GenevestigatoriQ6P5W5.

    Organism-specific databases

    HPAiHPA031507.

    Interactioni

    Protein-protein interaction databases

    BioGridi120769. 1 interaction.
    STRINGi9606.ENSP00000372700.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6P5W5.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini23 – 327305ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini349 – 35911CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini381 – 40222ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini424 – 558135CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini580 – 5867ExtracellularSequence Analysis
    Topological domaini608 – 61710CytoplasmicSequence Analysis
    Topological domaini639 – 6479ExtracellularSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei328 – 34821Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei360 – 38021Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei403 – 42321Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei559 – 57921Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei587 – 60721Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei618 – 63821Helical; Name=6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0428.
    HOGENOMiHOG000293181.
    HOVERGENiHBG062532.
    InParanoidiQ6P5W5.
    KOiK14710.
    PhylomeDBiQ6P5W5.
    TreeFamiTF318470.

    Family and domain databases

    InterProiIPR003689. ZIP.
    [Graphical view]
    PfamiPF02535. Zip. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6P5W5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MASLVSLELG LLLAVLVVTA TASPPAGLLS LLTSGQGALD QEALGGLLNT    50
    LADRVHCANG PCGKCLSVED ALGLGEPEGS GLPPGPVLEA RYVARLSAAA 100
    VLYLSNPEGT CEDARAGLWA SHADHLLALL ESPKALTPGL SWLLQRMQAR 150
    AAGQTPKTAC VDIPQLLEEA VGAGAPGSAG GVLAALLDHV RSGSCFHALP 200
    SPQYFVDFVF QQHSSEVPMT LAELSALMQR LGVGREAHSD HSHRHRGASS 250
    RDPVPLISSS NSSSVWDTVC LSARDVMAAY GLSEQAGVTP EAWAQLSPAL 300
    LQQQLSGACT SQSRPPVQDQ LSQSERYLYG SLATLLICLC AVFGLLLLTC 350
    TGCRGVTHYI LQTFLSLAVG ALTGDAVLHL TPKVLGLHTH SEEGLSPQPT 400
    WRLLAMLAGL YAFFLFENLF NLLLPRDPED LEDGPCGHSS HSHGGHSHGV 450
    SLQLAPSELR QPKPPHEGSR ADLVAEESPE LLNPEPRRLS PELRLLPYMI 500
    TLGDAVHNFA DGLAVGAAFA SSWKTGLATS LAVFCHELPH ELGDFAALLH 550
    AGLSVRQALL LNLASALTAF AGLYVALAVG VSEESEAWIL AVATGLFLYV 600
    ALCDMLPAML KVRDPRPWLL FLLHNVGLLG GWTVLLLLSL YEDDITF 647
    Length:647
    Mass (Da):68,392
    Last modified:May 18, 2010 - v3
    Checksum:i1B482200EB78F881
    GO
    Isoform 2 (identifier: Q6P5W5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-25: Missing.
         26-64: AGLLSLLTSG...VHCANGPCGK → MVDVVGLERE...APLLTCLCPQ

    Show »
    Length:622
    Mass (Da):66,162
    Checksum:iAEC20AD677CB3D62
    GO

    Sequence cautioni

    The sequence BAA91091.1 differs from that shown. Reason: Frameshift at positions 573, 598 and 618.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti22 – 221A → E.
    Corresponds to variant rs2280839 [ dbSNP | Ensembl ].
    VAR_060487
    Natural varianti58 – 581A → T.3 Publications
    Corresponds to variant rs2280838 [ dbSNP | Ensembl ].
    VAR_023627
    Natural varianti84 – 841P → L in AEZ; unknown pathological significance. 1 Publication
    VAR_023628
    Natural varianti95 – 951R → C in AEZ. 1 Publication
    VAR_023629
    Natural varianti106 – 1061N → K in AEZ. 1 Publication
    VAR_023630
    Natural varianti114 – 1141A → T.3 Publications
    Corresponds to variant rs17855765 [ dbSNP | Ensembl ].
    VAR_023631
    Natural varianti158 – 1581T → M.
    Corresponds to variant rs1871533 [ dbSNP | Ensembl ].
    VAR_057481
    Natural varianti200 – 2001P → L in AEZ. 1 Publication
    VAR_023632
    Natural varianti251 – 2511R → W in AEZ; unknown pathological significance. 2 Publications
    Corresponds to variant rs2977838 [ dbSNP | Ensembl ].
    VAR_023633
    Natural varianti284 – 2841E → K.
    Corresponds to variant rs7823979 [ dbSNP | Ensembl ].
    VAR_057482
    Natural varianti303 – 3031Q → H in AEZ. 1 Publication
    VAR_023634
    Natural varianti309 – 3091C → Y in AEZ; unknown pathological significance. 2 Publications
    VAR_023635
    Natural varianti330 – 3301G → D in AEZ. 1 Publication
    VAR_023636
    Natural varianti357 – 3571T → A.2 Publications
    Corresponds to variant rs2272662 [ dbSNP | Ensembl ].
    VAR_023637
    Natural varianti372 – 3721L → P in AEZ. 1 Publication
    VAR_023638
    Natural varianti372 – 3721L → V.
    Corresponds to variant rs1871534 [ dbSNP | Ensembl ].
    VAR_057483
    Natural varianti374 – 3741G → R in AEZ. 1 Publication
    VAR_023639
    Natural varianti378 – 3781L → V.
    Corresponds to variant rs4483198 [ dbSNP | Ensembl ].
    VAR_060488
    Natural varianti410 – 4101L → P in AEZ; unknown pathological significance. 1 Publication
    VAR_023640
    Natural varianti526 – 5261G → R in AEZ. 1 Publication
    VAR_023641
    Natural varianti630 – 6301G → R in AEZ. 1 Publication
    VAR_023642

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2525Missing in isoform 2. 2 PublicationsVSP_015911Add
    BLAST
    Alternative sequencei26 – 6439AGLLS…GPCGK → MVDVVGLERETGPRGSPWPG LPLPSLVGPAPLLTCLCPQ in isoform 2. 2 PublicationsVSP_015912Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000334 mRNA. Translation: BAA91091.1. Frameshift.
    AK025537 mRNA. Translation: BAB15164.1.
    AF205589 Genomic DNA. No translation available.
    BC001688 mRNA. Translation: AAH01688.2.
    BC062625 mRNA. Translation: AAH62625.1.
    CCDSiCCDS43782.1. [Q6P5W5-2]
    CCDS6424.1. [Q6P5W5-1]
    RefSeqiNP_060237.2. NM_017767.2. [Q6P5W5-2]
    NP_570901.2. NM_130849.3. [Q6P5W5-1]
    UniGeneiHs.521934.

    Genome annotation databases

    EnsembliENST00000301305; ENSP00000301305; ENSG00000147804.
    GeneIDi55630.
    KEGGihsa:55630.
    UCSCiuc003zco.3. human. [Q6P5W5-1]
    uc003zcp.3. human. [Q6P5W5-2]

    Polymorphism databases

    DMDMi296452970.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000334 mRNA. Translation: BAA91091.1 . Frameshift.
    AK025537 mRNA. Translation: BAB15164.1 .
    AF205589 Genomic DNA. No translation available.
    BC001688 mRNA. Translation: AAH01688.2 .
    BC062625 mRNA. Translation: AAH62625.1 .
    CCDSi CCDS43782.1. [Q6P5W5-2 ]
    CCDS6424.1. [Q6P5W5-1 ]
    RefSeqi NP_060237.2. NM_017767.2. [Q6P5W5-2 ]
    NP_570901.2. NM_130849.3. [Q6P5W5-1 ]
    UniGenei Hs.521934.

    3D structure databases

    ProteinModelPortali Q6P5W5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120769. 1 interaction.
    STRINGi 9606.ENSP00000372700.

    Protein family/group databases

    TCDBi 2.A.5.4.1. the zinc (zn(2+))-iron (fe(2+)) permease (zip) family.

    PTM databases

    PhosphoSitei Q6P5W5.

    Polymorphism databases

    DMDMi 296452970.

    Proteomic databases

    MaxQBi Q6P5W5.
    PaxDbi Q6P5W5.
    PRIDEi Q6P5W5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000301305 ; ENSP00000301305 ; ENSG00000147804 .
    GeneIDi 55630.
    KEGGi hsa:55630.
    UCSCi uc003zco.3. human. [Q6P5W5-1 ]
    uc003zcp.3. human. [Q6P5W5-2 ]

    Organism-specific databases

    CTDi 55630.
    GeneCardsi GC08M145637.
    H-InvDB HIX0007856.
    HGNCi HGNC:17129. SLC39A4.
    HPAi HPA031507.
    MIMi 201100. phenotype.
    607059. gene.
    neXtProti NX_Q6P5W5.
    Orphaneti 37. Acrodermatitis enteropathica.
    PharmGKBi PA38204.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0428.
    HOGENOMi HOG000293181.
    HOVERGENi HBG062532.
    InParanoidi Q6P5W5.
    KOi K14710.
    PhylomeDBi Q6P5W5.
    TreeFami TF318470.

    Enzyme and pathway databases

    Reactomei REACT_20603. Zinc influx into cells by the SLC39 gene family.

    Miscellaneous databases

    GenomeRNAii 55630.
    NextBioi 60265.
    PROi Q6P5W5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6P5W5.
    Bgeei Q6P5W5.
    CleanExi HS_SLC39A4.
    Genevestigatori Q6P5W5.

    Family and domain databases

    InterProi IPR003689. ZIP.
    [Graphical view ]
    Pfami PF02535. Zip. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of SLC39A4, a gene involved in acrodermatitis enteropathica."
      Kuery S., Dreno B., Bezieau S., Giraudet S., Kharfi M., Kamoun R., Moisan J.-P.
      Nat. Genet. 31:239-240(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, VARIANTS AEZ LEU-200; ARG-374 AND ARG-526.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS THR-58; THR-114; AEZ TYR-309 AND ALA-357.
    3. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT TRP-251.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-58 AND THR-114.
      Tissue: Lung and Ovary.
    5. "A novel member of a zinc transporter family is defective in acrodermatitis enteropathica."
      Wang K., Zhou B., Kuo Y.-M., Zemansky J., Gitschier J.
      Am. J. Hum. Genet. 71:66-73(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, VARIANTS THR-58; THR-114 AND ALA-357, VARIANTS AEZ LEU-84; LYS-106; TRP-251; TYR-309; ASP-330; PRO-372; PRO-410 AND ARG-630.
    6. "Zn2+-stimulated endocytosis of the mZIP4 zinc transporter regulates its location at the plasma membrane."
      Kim B.-E., Wang F., Dufner-Beattie J., Andrews G.K., Eide D.J., Petris M.J.
      J. Biol. Chem. 279:4523-4530(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    7. "Novel SLC39A4 mutations in acrodermatitis enteropathica."
      Nakano A., Nakano H., Nomura K., Toyomaki Y., Hanada K.
      J. Invest. Dermatol. 120:963-966(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS AEZ CYS-95 AND HIS-303.

    Entry informationi

    Entry nameiS39A4_HUMAN
    AccessioniPrimary (citable) accession number: Q6P5W5
    Secondary accession number(s): Q7L5S5, Q9H6T8, Q9NXC4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 25, 2005
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 95 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3