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Q8NFF2

- NCKX4_HUMAN

UniProt

Q8NFF2 - NCKX4_HUMAN

Protein

Sodium/potassium/calcium exchanger 4

Gene

SLC24A4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 2 (27 Jul 2011)
      Previous versions | rss
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    Functioni

    Transports 1 Ca2+ and 1 K+ in exchange for 4 Na+. Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis By similarity.By similarity

    GO - Molecular functioni

    1. calcium, potassium:sodium antiporter activity Source: Ensembl
    2. symporter activity Source: UniProtKB-KW

    GO - Biological processi

    1. amelogenesis Source: UniProtKB
    2. cellular calcium ion homeostasis Source: Ensembl
    3. ion transport Source: Reactome
    4. response to stimulus Source: UniProtKB-KW
    5. sensory perception of smell Source: UniProtKB
    6. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Antiport, Calcium transport, Ion transport, Olfaction, Potassium transport, Sensory transduction, Sodium transport, Symport, Transport

    Keywords - Ligandi

    Calcium, Potassium, Sodium

    Enzyme and pathway databases

    ReactomeiREACT_19320. Sodium/Calcium exchangers.

    Protein family/group databases

    TCDBi2.A.19.4.5. the ca(2+):cation antiporter (caca) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium/potassium/calcium exchanger 4
    Alternative name(s):
    Na(+)/K(+)/Ca(2+)-exchange protein 4
    Solute carrier family 24 member 4
    Gene namesi
    Name:SLC24A4
    Synonyms:NCKX4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:10978. SLC24A4.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    SLC24A4 mutations may be a cause of autosomal recessive hypomineralized amelogenesis imperfecta (AI), a defect of enamel formation characterized by variable degrees of incomplete mineralization of the enamel matrix, typically with a near-normal enamel matrix volume prior to posteruptive changes and premature failure.

    Keywords - Diseasei

    Amelogenesis imperfecta, Disease mutation

    Organism-specific databases

    MIMi210750. phenotype.
    Orphaneti100032. Hypocalcified amelogenesis imperfecta.
    PharmGKBiPA35854.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3838Sequence AnalysisAdd
    BLAST
    Chaini39 – 622584Sodium/potassium/calcium exchanger 4PRO_0000019373Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi69 – 691N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi76 – 761N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ8NFF2.
    PRIDEiQ8NFF2.

    Expressioni

    Tissue specificityi

    Expressed abundantly in all regions of the brain, aorta, lung and thymus. Expressed at lower levels in the stomach and intestine.

    Gene expression databases

    ArrayExpressiQ8NFF2.
    BgeeiQ8NFF2.
    CleanExiHS_SLC24A4.
    GenevestigatoriQ8NFF2.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000298877.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NFF2.
    SMRiQ8NFF2. Positions 120-242, 452-536.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini39 – 9759ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini119 – 17254CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini194 – 2007ExtracellularSequence Analysis
    Topological domaini222 – 2243CytoplasmicSequence Analysis
    Topological domaini246 – 424179ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini446 – 45712CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini479 – 4791ExtracellularSequence Analysis
    Topological domaini501 – 52626CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini548 – 55710ExtracellularSequence Analysis
    Topological domaini579 – 5868CytoplasmicSequence Analysis
    Topological domaini608 – 62215ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei98 – 11821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei173 – 19321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei201 – 22121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei225 – 24521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei425 – 44521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei458 – 47821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei480 – 50021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei527 – 54721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei558 – 57821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei587 – 60721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati139 – 17941Alpha-1Add
    BLAST
    Repeati495 – 52632Alpha-2Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi395 – 40612Poly-ProAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0530.
    HOVERGENiHBG054881.
    InParanoidiQ8NFF2.
    KOiK13752.
    OMAiKLMAPVN.
    OrthoDBiEOG776SP8.
    PhylomeDBiQ8NFF2.
    TreeFamiTF318759.

    Family and domain databases

    InterProiIPR004481. K/Na/Ca-exchanger.
    IPR004837. NaCa_Exmemb.
    [Graphical view]
    PANTHERiPTHR10846. PTHR10846. 1 hit.
    PfamiPF01699. Na_Ca_ex. 2 hits.
    [Graphical view]
    TIGRFAMsiTIGR00367. TIGR00367. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NFF2-1) [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

    MALRGTLRPL KVRRRREMLP QQVGFVCAVL ALVCCASGLF GSLGHKTASA    50
    SKRVLPDTWR NRKLMAPVNG TQTAKNCTDP AIHEFPTDLF SNKERQHGAV 100
    LLHILGALYM FYALAIVCDD FFVPSLEKIC ERLHLSEDVA GATFMAAGSS 150
    TPELFASVIG VFITHGDVGV GTIVGSAVFN ILCIIGVCGL FAGQVVRLTW 200
    WAVCRDSVYY TISVIVLIVF IYDEQIVWWE GLVLIILYVF YILIMKYNVK 250
    MQAFFTVKQK SIANGNPVNS ELEAGNDFYD GSYDDPSVPL LGQVKEKPQY 300
    GKNPVVMVDE IMSSSPPKFT FPEAGLRIMI TNKFGPRTRL RMASRIIINE 350
    RQRLINSANG VSSKPLQNGR HENIENGNVP VENPEDPQQN QEQQPPPQPP 400
    PPEPEPVEAD FLSPFSVPEA RGDKVKWVFT WPLIFLLCVT IPNCSKPRWE 450
    KFFMVTFITA TLWIAVFSYI MVWLVTIIGY TLGIPDVIMG ITFLAAGTSV 500
    PDCMASLIVA RQGLGDMAVS NTIGSNVFDI LVGLGVPWGL QTMVVNYGST 550
    VKINSRGLVY SVVLLLGSVA LTVLGIHLNK WRLDRKLGVY VLVLYAIFLC 600
    FSIMIEFNVF TFVNLPMCRE DD 622
    Length:622
    Mass (Da):69,042
    Last modified:July 27, 2011 - v2
    Checksum:i00D69370E55EE388
    GO
    Isoform 2 (identifier: Q8NFF2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-64: Missing.

    Show »
    Length:558
    Mass (Da):61,938
    Checksum:i3DC0E1DFBC5D7828
    GO
    Isoform 3 (identifier: Q8NFF2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         275-293: Missing.

    Show »
    Length:603
    Mass (Da):67,001
    Checksum:iC8A7D3637BF861F8
    GO
    Isoform 4 (identifier: Q8NFF2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-109: Missing.
         172-210: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:474
    Mass (Da):52,760
    Checksum:i5C9395536A220F7A
    GO

    Sequence cautioni

    The sequence BAC04715.1 differs from that shown. Reason: Probable cloning artifact.
    The sequence AAH69653.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAM76070.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAM76071.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAD38903.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti444 – 4441C → S in BAC04715. (PubMed:14702039)Curated
    Sequence conflicti560 – 5601Y → H in BAG58108. (PubMed:14702039)Curated

    Polymorphismi

    Genetic variants in SLC24A4 define the skin/hair/eye pigmentation variation locus 6 (SHEP6) [MIMi:210750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti499 – 4991S → C Probable disease-associated mutation found in autosomal recessive hypomineralized amelogenesis imperfecta. 1 Publication
    VAR_070183
    Natural varianti613 – 6131V → I.
    Corresponds to variant rs4900130 [ dbSNP | Ensembl ].
    VAR_042664

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 109109Missing in isoform 4. 1 PublicationVSP_008370Add
    BLAST
    Alternative sequencei1 – 6464Missing in isoform 2. 1 PublicationVSP_008369Add
    BLAST
    Alternative sequencei172 – 21039Missing in isoform 4. 1 PublicationVSP_008371Add
    BLAST
    Alternative sequencei275 – 29319Missing in isoform 3. 2 PublicationsVSP_008372Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF520704 mRNA. Translation: AAM76070.1. Different initiation.
    AF520705 mRNA. Translation: AAM76071.1. Different initiation.
    AF520706 mRNA. Translation: AAM76072.1.
    AK096171 mRNA. Translation: BAC04715.1. Sequence problems.
    AK295059 mRNA. Translation: BAG58108.1.
    AL118559 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW81485.1.
    BC069653 mRNA. Translation: AAH69653.1. Different initiation.
    AL834225 mRNA. Translation: CAD38903.1. Different initiation.
    CCDSiCCDS45155.2. [Q8NFF2-3]
    CCDS45156.1. [Q8NFF2-2]
    CCDS9903.2. [Q8NFF2-1]
    RefSeqiNP_705932.2. NM_153646.3. [Q8NFF2-1]
    NP_705933.2. NM_153647.3. [Q8NFF2-3]
    NP_705934.1. NM_153648.3. [Q8NFF2-2]
    XP_005267398.1. XM_005267341.1. [Q8NFF2-1]
    UniGeneiHs.385530.

    Genome annotation databases

    EnsembliENST00000393265; ENSP00000376948; ENSG00000140090. [Q8NFF2-2]
    ENST00000531433; ENSP00000433302; ENSG00000140090. [Q8NFF2-3]
    ENST00000532405; ENSP00000431840; ENSG00000140090. [Q8NFF2-1]
    GeneIDi123041.
    KEGGihsa:123041.
    UCSCiuc001yai.3. human. [Q8NFF2-1]
    uc010twm.2. human. [Q8NFF2-3]

    Polymorphism databases

    DMDMi341941166.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF520704 mRNA. Translation: AAM76070.1 . Different initiation.
    AF520705 mRNA. Translation: AAM76071.1 . Different initiation.
    AF520706 mRNA. Translation: AAM76072.1 .
    AK096171 mRNA. Translation: BAC04715.1 . Sequence problems.
    AK295059 mRNA. Translation: BAG58108.1 .
    AL118559 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW81485.1 .
    BC069653 mRNA. Translation: AAH69653.1 . Different initiation.
    AL834225 mRNA. Translation: CAD38903.1 . Different initiation.
    CCDSi CCDS45155.2. [Q8NFF2-3 ]
    CCDS45156.1. [Q8NFF2-2 ]
    CCDS9903.2. [Q8NFF2-1 ]
    RefSeqi NP_705932.2. NM_153646.3. [Q8NFF2-1 ]
    NP_705933.2. NM_153647.3. [Q8NFF2-3 ]
    NP_705934.1. NM_153648.3. [Q8NFF2-2 ]
    XP_005267398.1. XM_005267341.1. [Q8NFF2-1 ]
    UniGenei Hs.385530.

    3D structure databases

    ProteinModelPortali Q8NFF2.
    SMRi Q8NFF2. Positions 120-242, 452-536.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000298877.

    Protein family/group databases

    TCDBi 2.A.19.4.5. the ca(2+):cation antiporter (caca) family.

    Polymorphism databases

    DMDMi 341941166.

    Proteomic databases

    PaxDbi Q8NFF2.
    PRIDEi Q8NFF2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000393265 ; ENSP00000376948 ; ENSG00000140090 . [Q8NFF2-2 ]
    ENST00000531433 ; ENSP00000433302 ; ENSG00000140090 . [Q8NFF2-3 ]
    ENST00000532405 ; ENSP00000431840 ; ENSG00000140090 . [Q8NFF2-1 ]
    GeneIDi 123041.
    KEGGi hsa:123041.
    UCSCi uc001yai.3. human. [Q8NFF2-1 ]
    uc010twm.2. human. [Q8NFF2-3 ]

    Organism-specific databases

    CTDi 123041.
    GeneCardsi GC14P092788.
    HGNCi HGNC:10978. SLC24A4.
    MIMi 210750. phenotype.
    609840. gene.
    neXtProti NX_Q8NFF2.
    Orphaneti 100032. Hypocalcified amelogenesis imperfecta.
    PharmGKBi PA35854.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0530.
    HOVERGENi HBG054881.
    InParanoidi Q8NFF2.
    KOi K13752.
    OMAi KLMAPVN.
    OrthoDBi EOG776SP8.
    PhylomeDBi Q8NFF2.
    TreeFami TF318759.

    Enzyme and pathway databases

    Reactomei REACT_19320. Sodium/Calcium exchangers.

    Miscellaneous databases

    GenomeRNAii 123041.
    NextBioi 81061.
    PROi Q8NFF2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NFF2.
    Bgeei Q8NFF2.
    CleanExi HS_SLC24A4.
    Genevestigatori Q8NFF2.

    Family and domain databases

    InterProi IPR004481. K/Na/Ca-exchanger.
    IPR004837. NaCa_Exmemb.
    [Graphical view ]
    PANTHERi PTHR10846. PTHR10846. 1 hit.
    Pfami PF01699. Na_Ca_ex. 2 hits.
    [Graphical view ]
    TIGRFAMsi TIGR00367. TIGR00367. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4."
      Li X.-F., Kraev A.S., Lytton J.
      J. Biol. Chem. 277:48410-48417(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [MRNA] OF 10-622 (ISOFORMS 1 AND 3).
    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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-474 (ISOFORM 4).
      Tissue: Brain.
    3. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] OF 10-622 (ISOFORM 1).
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 294-622 (ISOFORM 1).
      Tissue: Testis.
    7. Cited for: INVOLVEMENT IN SHEP6.
    8. "Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta."
      Parry D.A., Poulter J.A., Logan C.V., Brookes S.J., Jafri H., Ferguson C.H., Anwari B.M., Rashid Y., Zhao H., Johnson C.A., Inglehearn C.F., Mighell A.J.
      Am. J. Hum. Genet. 92:307-312(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN AI, VARIANT CYS-499.

    Entry informationi

    Entry nameiNCKX4_HUMAN
    AccessioniPrimary (citable) accession number: Q8NFF2
    Secondary accession number(s): B4DHE7
    , B9ZVY2, Q8N8U6, Q8NCX1, Q8NFF0, Q8NFF1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2003
    Last sequence update: July 27, 2011
    Last modified: October 1, 2014
    This is version 113 of the entry and version 2 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 14
      Human chromosome 14: 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