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P43003

- EAA1_HUMAN

UniProt

P43003 - EAA1_HUMAN

Protein

Excitatory amino acid transporter 1

Gene

SLC1A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 1 (01 Nov 1995)
      Previous versions | rss
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    Functioni

    Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium.

    GO - Molecular functioni

    1. glutamate binding Source: Ensembl
    2. high-affinity glutamate transmembrane transporter activity Source: Ensembl
    3. L-glutamate transmembrane transporter activity Source: BHF-UCL
    4. sodium:dicarboxylate symporter activity Source: InterPro

    GO - Biological processi

    1. auditory behavior Source: Ensembl
    2. cell morphogenesis involved in neuron differentiation Source: Ensembl
    3. cranial nerve development Source: Ensembl
    4. D-aspartate import Source: UniProtKB
    5. gamma-aminobutyric acid biosynthetic process Source: Ensembl
    6. glutamate biosynthetic process Source: Ensembl
    7. ion transport Source: Reactome
    8. L-glutamate import Source: UniProtKB
    9. neuromuscular process controlling balance Source: Ensembl
    10. neurotransmitter uptake Source: ProtInc
    11. positive regulation of synaptic transmission Source: Ensembl
    12. response to antibiotic Source: Ensembl
    13. response to drug Source: Ensembl
    14. response to light stimulus Source: Ensembl
    15. response to wounding Source: Ensembl
    16. sensory perception of sound Source: Ensembl
    17. synaptic transmission Source: ProtInc
    18. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Symport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_13639. Astrocytic Glutamate-Glutamine Uptake And Metabolism.
    REACT_19397. Transport of inorganic cations/anions and amino acids/oligopeptides.

    Protein family/group databases

    TCDBi2.A.23.2.6. the dicarboxylate/amino acid:cation (na(+) or h(+)) symporter (daacs) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Excitatory amino acid transporter 1
    Alternative name(s):
    Sodium-dependent glutamate/aspartate transporter 1
    Short name:
    GLAST-1
    Solute carrier family 1 member 3
    Gene namesi
    Name:SLC1A3
    Synonyms:EAAT1, GLAST, GLAST1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:10941. SLC1A3.

    Subcellular locationi

    GO - Cellular componenti

    1. cell projection Source: Ensembl
    2. cell surface Source: Ensembl
    3. fibril Source: Ensembl
    4. integral component of membrane Source: UniProtKB-KW
    5. membrane Source: ProtInc
    6. neuronal cell body Source: Ensembl
    7. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Episodic ataxia 6 (EA6) [MIM:612656]: A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti290 – 2901P → R in EA6. 1 Publication
    VAR_031733

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi612656. phenotype.
    Orphaneti2131. Alternating hemiplegia of childhood.
    209967. Episodic ataxia type 6.
    PharmGKBiPA35828.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 542542Excitatory amino acid transporter 1PRO_0000202057Add
    BLAST

    Post-translational modificationi

    Glycosylated.

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiP43003.
    PaxDbiP43003.
    PRIDEiP43003.

    PTM databases

    PhosphoSiteiP43003.

    Expressioni

    Tissue specificityi

    Highly expressed in cerebellum, but also found in frontal cortex, hippocampus and basal ganglia.

    Gene expression databases

    ArrayExpressiP43003.
    BgeeiP43003.
    CleanExiHS_SLC1A3.
    GenevestigatoriP43003.

    Organism-specific databases

    HPAiCAB002573.
    HPA037467.
    HPA037468.

    Interactioni

    Protein-protein interaction databases

    BioGridi112398. 2 interactions.
    IntActiP43003. 1 interaction.
    MINTiMINT-5004226.
    STRINGi9606.ENSP00000265113.

    Structurei

    3D structure databases

    ProteinModelPortaliP43003.
    SMRiP43003. Positions 55-494.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4747CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini146 – 23792ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei48 – 6821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei91 – 11121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei123 – 14523HelicalSequence AnalysisAdd
    BLAST
    Transmembranei238 – 26023HelicalSequence AnalysisAdd
    BLAST
    Transmembranei281 – 30222HelicalSequence AnalysisAdd
    BLAST
    Transmembranei319 – 34022HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1301.
    HOGENOMiHOG000208776.
    HOVERGENiHBG000080.
    InParanoidiP43003.
    KOiK05614.
    OMAiTLRPYRM.
    OrthoDBiEOG7RV9G2.
    PhylomeDBiP43003.
    TreeFamiTF315206.

    Family and domain databases

    Gene3Di1.10.3860.10. 2 hits.
    InterProiIPR001991. Na-dicarboxylate_symporter.
    IPR018107. Na-dicarboxylate_symporter_CS.
    [Graphical view]
    PANTHERiPTHR11958. PTHR11958. 1 hit.
    PfamiPF00375. SDF. 1 hit.
    [Graphical view]
    PRINTSiPR00173. EDTRNSPORT.
    SUPFAMiSSF118215. SSF118215. 2 hits.
    PROSITEiPS00713. NA_DICARBOXYL_SYMP_1. 1 hit.
    PS00714. NA_DICARBOXYL_SYMP_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P43003-1) [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

    MTKSNGEEPK MGGRMERFQQ GVRKRTLLAK KKVQNITKED VKSYLFRNAF    50
    VLLTVTAVIV GTILGFTLRP YRMSYREVKY FSFPGELLMR MLQMLVLPLI 100
    ISSLVTGMAA LDSKASGKMG MRAVVYYMTT TIIAVVIGII IVIIIHPGKG 150
    TKENMHREGK IVRVTAADAF LDLIRNMFPP NLVEACFKQF KTNYEKRSFK 200
    VPIQANETLV GAVINNVSEA METLTRITEE LVPVPGSVNG VNALGLVVFS 250
    MCFGFVIGNM KEQGQALREF FDSLNEAIMR LVAVIMWYAP VGILFLIAGK 300
    IVEMEDMGVI GGQLAMYTVT VIVGLLIHAV IVLPLLYFLV TRKNPWVFIG 350
    GLLQALITAL GTSSSSATLP ITFKCLEENN GVDKRVTRFV LPVGATINMD 400
    GTALYEALAA IFIAQVNNFE LNFGQIITIS ITATAASIGA AGIPQAGLVT 450
    MVIVLTSVGL PTDDITLIIA VDWFLDRLRT TTNVLGDSLG AGIVEHLSRH 500
    ELKNRDVEMG NSVIEENEMK KPYQLIAQDN ETEKPIDSET KM 542
    Length:542
    Mass (Da):59,572
    Last modified:November 1, 1995 - v1
    Checksum:i6E9F62D35A3A5A29
    GO
    Isoform 2 (identifier: P43003-2) [UniParc]FASTAAdd to Basket

    Also known as: EAAT1ex9skip

    The sequence of this isoform differs from the canonical sequence as follows:
         430-475: SITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFL → R

    Note: Expressed throughout the CNS, both in gray matter and axonal tracts, at levels ranging between 10% and 20% of isoform 1. Localizes to ER, has no functional glutamate uptake activity, and exerts a dominant negative effect isoform 1.

    Show »
    Length:497
    Mass (Da):55,149
    Checksum:i7C21EC2B467E1C11
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti366 – 3661S → CT(PubMed:8218410)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti219 – 2191E → D.
    Corresponds to variant rs2032892 [ dbSNP | Ensembl ].
    VAR_011877
    Natural varianti290 – 2901P → R in EA6. 1 Publication
    VAR_031733

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei430 – 47546SITAT…VDWFL → R in isoform 2. 1 PublicationVSP_043913Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L19158 mRNA. No translation available.
    U03504 mRNA. Translation: AAA50428.1.
    D26443 mRNA. Translation: BAA05462.1.
    Z31713
    , Z31703, Z31704, Z31705, Z31706, Z31707, Z31708, Z31709, Z31710 Genomic DNA. Translation: CAA83507.1.
    AY954110 mRNA. Translation: AAY28724.1.
    AK312304 mRNA. Translation: BAG35230.1.
    AC008957 Genomic DNA. No translation available.
    AC010631 Genomic DNA. No translation available.
    CH471119 Genomic DNA. Translation: EAW55945.1.
    CCDSiCCDS3919.1. [P43003-1]
    CCDS54844.1. [P43003-2]
    PIRiS38353.
    RefSeqiNP_001160167.1. NM_001166695.2. [P43003-2]
    NP_001276869.1. NM_001289940.1.
    NP_004163.3. NM_004172.4. [P43003-1]
    XP_005248399.1. XM_005248342.1. [P43003-1]
    XP_006714551.1. XM_006714488.1. [P43003-1]
    UniGeneiHs.481918.

    Genome annotation databases

    EnsembliENST00000265113; ENSP00000265113; ENSG00000079215. [P43003-1]
    ENST00000381918; ENSP00000371343; ENSG00000079215. [P43003-2]
    GeneIDi6507.
    KEGGihsa:6507.
    UCSCiuc003jkj.4. human. [P43003-1]
    uc010iuy.3. human. [P43003-2]

    Polymorphism databases

    DMDMi1169458.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L19158 mRNA. No translation available.
    U03504 mRNA. Translation: AAA50428.1 .
    D26443 mRNA. Translation: BAA05462.1 .
    Z31713
    , Z31703 , Z31704 , Z31705 , Z31706 , Z31707 , Z31708 , Z31709 , Z31710 Genomic DNA. Translation: CAA83507.1 .
    AY954110 mRNA. Translation: AAY28724.1 .
    AK312304 mRNA. Translation: BAG35230.1 .
    AC008957 Genomic DNA. No translation available.
    AC010631 Genomic DNA. No translation available.
    CH471119 Genomic DNA. Translation: EAW55945.1 .
    CCDSi CCDS3919.1. [P43003-1 ]
    CCDS54844.1. [P43003-2 ]
    PIRi S38353.
    RefSeqi NP_001160167.1. NM_001166695.2. [P43003-2 ]
    NP_001276869.1. NM_001289940.1.
    NP_004163.3. NM_004172.4. [P43003-1 ]
    XP_005248399.1. XM_005248342.1. [P43003-1 ]
    XP_006714551.1. XM_006714488.1. [P43003-1 ]
    UniGenei Hs.481918.

    3D structure databases

    ProteinModelPortali P43003.
    SMRi P43003. Positions 55-494.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112398. 2 interactions.
    IntActi P43003. 1 interaction.
    MINTi MINT-5004226.
    STRINGi 9606.ENSP00000265113.

    Chemistry

    BindingDBi P43003.
    ChEMBLi CHEMBL3085.
    DrugBanki DB00142. L-Glutamic Acid.
    GuidetoPHARMACOLOGYi 868.

    Protein family/group databases

    TCDBi 2.A.23.2.6. the dicarboxylate/amino acid:cation (na(+) or h(+)) symporter (daacs) family.

    PTM databases

    PhosphoSitei P43003.

    Polymorphism databases

    DMDMi 1169458.

    Proteomic databases

    MaxQBi P43003.
    PaxDbi P43003.
    PRIDEi P43003.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265113 ; ENSP00000265113 ; ENSG00000079215 . [P43003-1 ]
    ENST00000381918 ; ENSP00000371343 ; ENSG00000079215 . [P43003-2 ]
    GeneIDi 6507.
    KEGGi hsa:6507.
    UCSCi uc003jkj.4. human. [P43003-1 ]
    uc010iuy.3. human. [P43003-2 ]

    Organism-specific databases

    CTDi 6507.
    GeneCardsi GC05P036606.
    HGNCi HGNC:10941. SLC1A3.
    HPAi CAB002573.
    HPA037467.
    HPA037468.
    MIMi 600111. gene.
    612656. phenotype.
    neXtProti NX_P43003.
    Orphaneti 2131. Alternating hemiplegia of childhood.
    209967. Episodic ataxia type 6.
    PharmGKBi PA35828.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1301.
    HOGENOMi HOG000208776.
    HOVERGENi HBG000080.
    InParanoidi P43003.
    KOi K05614.
    OMAi TLRPYRM.
    OrthoDBi EOG7RV9G2.
    PhylomeDBi P43003.
    TreeFami TF315206.

    Enzyme and pathway databases

    Reactomei REACT_13639. Astrocytic Glutamate-Glutamine Uptake And Metabolism.
    REACT_19397. Transport of inorganic cations/anions and amino acids/oligopeptides.

    Miscellaneous databases

    ChiTaRSi SLC1A3. human.
    GeneWikii Glutamate_aspartate_transporter.
    GenomeRNAii 6507.
    NextBioi 25301.
    PROi P43003.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P43003.
    Bgeei P43003.
    CleanExi HS_SLC1A3.
    Genevestigatori P43003.

    Family and domain databases

    Gene3Di 1.10.3860.10. 2 hits.
    InterProi IPR001991. Na-dicarboxylate_symporter.
    IPR018107. Na-dicarboxylate_symporter_CS.
    [Graphical view ]
    PANTHERi PTHR11958. PTHR11958. 1 hit.
    Pfami PF00375. SDF. 1 hit.
    [Graphical view ]
    PRINTSi PR00173. EDTRNSPORT.
    SUPFAMi SSF118215. SSF118215. 2 hits.
    PROSITEi PS00713. NA_DICARBOXYL_SYMP_1. 1 hit.
    PS00714. NA_DICARBOXYL_SYMP_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of a glutamate transporter cDNA from human cerebellum."
      Shashidharan P., Plaitakis A.
      Biochim. Biophys. Acta 1216:161-164(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Cerebellum.
    2. "Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex."
      Arriza J.L., Fairman W.A., Wendy A., Wadiche J.I., Murdoch G.H., Kavanaugh M.P., Amara S.G.
      J. Neurosci. 14:5559-5569(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain cortex.
    3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    4. "Human high affinity, Na(+)-dependent L-glutamate/L-aspartate transporter GLAST-1 (EAAT-1): gene structure and localization to chromosome 5p11-p12."
      Stoffel W., Sasse J., Dueker M., Mueller R., Hofmann K.O., Fink T., Lichter P.
      FEBS Lett. 386:189-193(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "A novel alternative splicing form of excitatory amino acid transporter 1 is a negative regulator of glutamate uptake."
      Vallejo-Illarramendi A., Domercq M., Matute C.
      J. Neurochem. 95:341-348(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    6. "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 1).
      Tissue: Cerebellum.
    7. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures."
      Jen J.C., Wan J., Palos T.P., Howard B.D., Baloh R.W.
      Neurology 65:529-534(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA6 ARG-290.

    Entry informationi

    Entry nameiEAA1_HUMAN
    AccessioniPrimary (citable) accession number: P43003
    Secondary accession number(s): B2R5T3, Q4JCQ8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: November 1, 1995
    Last modified: October 1, 2014
    This is version 136 of the entry and version 1 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 5
      Human chromosome 5: 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