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Q6ZNE5

- BAKOR_HUMAN

UniProt

Q6ZNE5 - BAKOR_HUMAN

Protein

Beclin 1-associated autophagy-related key regulator

Gene

ATG14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Required for both basal and inducible autophagy. Determines the localization of the autophagy-specific PI3-kinase complex. Plays a role in autophagosome formation and MAP1LC3/LC3 conjugation to phosphatidylethanolamine. Promotes BECN1 translocation from the trans-Golgi network to autophagosomes. Enhances PIK3C3 activity in a BECN1-dependent manner.4 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. autophagic vacuole assembly Source: UniProtKB
    2. positive regulation of autophagy Source: InterPro

    Keywords - Biological processi

    Autophagy

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beclin 1-associated autophagy-related key regulator
    Short name:
    Barkor
    Alternative name(s):
    Autophagy-related protein 14-like protein
    Short name:
    Atg14L
    Gene namesi
    Name:ATG14
    Synonyms:KIAA0831
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:19962. ATG14.

    Subcellular locationi

    Cytoplasm. Endoplasmic reticulum membrane; Peripheral membrane protein. Preautophagosomal structure membrane; Peripheral membrane protein
    Note: Cytosolic under nutrient-rich conditions. Following autophagy stimuli, such as starvation or rapamycin induction, predominantly detected in cytoplasmic foci, identified as isolation membranes and autophagosomes. Accumulates on highly curved PtdIns3P enriched autophagic membrane via its BATS domain to sense and maintain membrane curvature By similarity. Localizes also to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme By similarity.By similarity

    GO - Cellular componenti

    1. autophagic vacuole Source: UniProtKB
    2. axoneme Source: UniProtKB
    3. cytoplasm Source: HPA
    4. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    5. nucleus Source: HPA
    6. pre-autophagosomal structure membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi43 – 431C → A in Atg14L4C4A; fails to localize to the endoplasmic reticulum; when associated with A-46, A-55 and A-58. 1 Publication
    Mutagenesisi46 – 461C → A in Atg14L4C4A; fails to localize to the endoplasmic reticulum; when associated with A-43, A-55 and A-58. 1 Publication
    Mutagenesisi55 – 551C → A in Atg14L4C4A; fails to localize to the endoplasmic reticulum; when associated with A-43, A-46 and A-58. 1 Publication
    Mutagenesisi58 – 581C → A in Atg14L4C4A; fails to localize to the endoplasmic reticulum; when associated with A-43, A-46 and A-55. 1 Publication

    Organism-specific databases

    PharmGKBiPA165478560.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 492492Beclin 1-associated autophagy-related key regulatorPRO_0000050774Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei29 – 291Phosphoserine2 Publications
    Modified residuei416 – 4161Phosphoserine1 Publication
    Modified residuei429 – 4291Phosphothreonine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ6ZNE5.
    PaxDbiQ6ZNE5.
    PRIDEiQ6ZNE5.

    PTM databases

    PhosphoSiteiQ6ZNE5.

    Expressioni

    Gene expression databases

    BgeeiQ6ZNE5.
    CleanExiHS_KIAA0831.
    GenevestigatoriQ6ZNE5.

    Organism-specific databases

    HPAiCAB037242.
    HPA053515.

    Interactioni

    Subunit structurei

    Component of the autophagy-specific PI3-kinase complex I composed of ATG14, BECN1, PIK3C3 and PIK3R4, but not UVRAG, nor KIAA0226/Rubicon. UVRAG and ATG14/Barkor form mutually exclusive complexes with BECN1 through direct competition. The complex containing ATG14 up-regulates autophagy, while the one containing Rubicon down-regulates autophagy By similarity. Interacts with PIK3CB By similarity. Interacts with BECN1P1/BECN2.By similarity5 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BECN1Q1445711EBI-2690371,EBI-949378

    Protein-protein interaction databases

    BioGridi116531. 11 interactions.
    DIPiDIP-48651N.
    IntActiQ6ZNE5. 7 interactions.
    MINTiMINT-8304673.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZNE5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni43 – 5816Cysteine repeatsAdd
    BLAST
    Regioni413 – 49280BATSBy similarityAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili71 – 180110Sequence AnalysisAdd
    BLAST

    Domaini

    The coiled-coil domain is required for BECN1- and PIK3C3-binding and for autophagy.1 Publication
    The final 80 residues in the C-terminus define a minimum required region for autophagosome binding called BATS.By similarity
    The N-terminal cysteine repeats are required for proper localization to the endoplasmic reticulum.1 Publication

    Sequence similaritiesi

    Belongs to the ATG14 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG236057.
    HOVERGENiHBG081828.
    InParanoidiQ6ZNE5.
    KOiK17889.
    OMAiCVQSGDF.
    OrthoDBiEOG7SV0WR.
    PhylomeDBiQ6ZNE5.
    TreeFamiTF323392.

    Family and domain databases

    InterProiIPR018791. UV_resistance/autophagy_Atg14.
    [Graphical view]
    PfamiPF10186. Atg14. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6ZNE5-1) [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

    MASPSGKGAR ALEAPGCGPR PLARDLVDSV DDAEGLYVAV ERCPLCNTTR    50
    RRLTCAKCVQ SGDFVYFDGR DRERFIDKKE RLSRLKSKQE EFQKEVLKAM 100
    EGKWITDQLR WKIMSCKMRI EQLKQTICKG NEEMEKNSEG LLKTKEKNQK 150
    LYSRAQRHQE KKEKIQRHNR KLGDLVEKKT IDLRSHYERL ANLRRSHILE 200
    LTSVIFPIEE VKTGVRDPAD VSSESDSAMT SSTVSKLAEA RRTTYLSGRW 250
    VCDDHNGDTS ISITGPWISL PNNGDYSAYY SWVEEKKTTQ GPDMEQSNPA 300
    YTISAALCYA TQLVNILSHI LDVNLPKKLC NSEFCGENLS KQKFTRAVKK 350
    LNANILYLCF SQHVNLDQLQ PLHTLRNLMY LVSPSSEHLG RSGPFEVRAD 400
    LEESMEFVDP GVAGESDESG DERVSDEETD LGTDWENLPS PRFCDIPSQS 450
    VEVSQSQSTQ ASPPIASSSA GGMISSAAAS VTSWFKAYTG HR 492
    Length:492
    Mass (Da):55,309
    Last modified:July 5, 2004 - v1
    Checksum:iA3EAB0580077D7A6
    GO
    Isoform 2 (identifier: Q6ZNE5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-113: Missing.

    Show »
    Length:379
    Mass (Da):42,434
    Checksum:iD6051FFD708A9943
    GO

    Sequence cautioni

    The sequence BAA74854.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti256 – 2561N → S in AAI09090. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti59 – 591V → I.
    Corresponds to variant rs57295720 [ dbSNP | Ensembl ].
    VAR_061240
    Natural varianti131 – 1311N → K.
    Corresponds to variant rs17675076 [ dbSNP | Ensembl ].
    VAR_049514

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 113113Missing in isoform 2. 1 PublicationVSP_013931Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB020638 mRNA. Translation: BAA74854.2. Different initiation.
    AK131251 mRNA. Translation: BAD18430.1.
    AK292810 mRNA. Translation: BAF85499.1.
    AL158801 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW80673.1.
    BC109089 mRNA. Translation: AAI09090.1.
    BC109090 mRNA. Translation: AAI09091.1.
    BR000826 mRNA. Translation: FAA00433.1.
    CCDSiCCDS32087.1. [Q6ZNE5-1]
    RefSeqiNP_055739.2. NM_014924.4. [Q6ZNE5-1]
    UniGeneiHs.414809.

    Genome annotation databases

    EnsembliENST00000247178; ENSP00000247178; ENSG00000126775. [Q6ZNE5-1]
    GeneIDi22863.
    KEGGihsa:22863.
    UCSCiuc001xbw.2. human. [Q6ZNE5-1]

    Polymorphism databases

    DMDMi67461020.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB020638 mRNA. Translation: BAA74854.2 . Different initiation.
    AK131251 mRNA. Translation: BAD18430.1 .
    AK292810 mRNA. Translation: BAF85499.1 .
    AL158801 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW80673.1 .
    BC109089 mRNA. Translation: AAI09090.1 .
    BC109090 mRNA. Translation: AAI09091.1 .
    BR000826 mRNA. Translation: FAA00433.1 .
    CCDSi CCDS32087.1. [Q6ZNE5-1 ]
    RefSeqi NP_055739.2. NM_014924.4. [Q6ZNE5-1 ]
    UniGenei Hs.414809.

    3D structure databases

    ProteinModelPortali Q6ZNE5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116531. 11 interactions.
    DIPi DIP-48651N.
    IntActi Q6ZNE5. 7 interactions.
    MINTi MINT-8304673.

    PTM databases

    PhosphoSitei Q6ZNE5.

    Polymorphism databases

    DMDMi 67461020.

    Proteomic databases

    MaxQBi Q6ZNE5.
    PaxDbi Q6ZNE5.
    PRIDEi Q6ZNE5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000247178 ; ENSP00000247178 ; ENSG00000126775 . [Q6ZNE5-1 ]
    GeneIDi 22863.
    KEGGi hsa:22863.
    UCSCi uc001xbw.2. human. [Q6ZNE5-1 ]

    Organism-specific databases

    CTDi 22863.
    GeneCardsi GC14M055834.
    HGNCi HGNC:19962. ATG14.
    HPAi CAB037242.
    HPA053515.
    MIMi 613515. gene.
    neXtProti NX_Q6ZNE5.
    PharmGKBi PA165478560.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG236057.
    HOVERGENi HBG081828.
    InParanoidi Q6ZNE5.
    KOi K17889.
    OMAi CVQSGDF.
    OrthoDBi EOG7SV0WR.
    PhylomeDBi Q6ZNE5.
    TreeFami TF323392.

    Miscellaneous databases

    GenomeRNAii 22863.
    NextBioi 43375.
    PROi Q6ZNE5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6ZNE5.
    CleanExi HS_KIAA0831.
    Genevestigatori Q6ZNE5.

    Family and domain databases

    InterProi IPR018791. UV_resistance/autophagy_Atg14.
    [Graphical view ]
    Pfami PF10186. Atg14. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    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 1).
      Tissue: Hippocampus and Trachea.
    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] (ISOFORM 1).
    6. "Beclin 1 forms two distinct phosphatidylinositol 3-kinase complexes with mammalian Atg14 and UVRAG."
      Itakura E., Kishi C., Inoue K., Mizushima N.
      Mol. Biol. Cell 19:5360-5372(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION, FUNCTION, INTERACTION WITH BECN1; PIK3C3 AND PIK3R4, SUBCELLULAR LOCATION.
    7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-29, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Identification of Barkor as a mammalian autophagy-specific factor for Beclin 1 and class III phosphatidylinositol 3-kinase."
      Sun Q., Fan W., Chen K., Ding X., Chen S., Zhong Q.
      Proc. Natl. Acad. Sci. U.S.A. 105:19211-19216(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH BECN1, SUBCELLULAR LOCATION.
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-29; SER-416 AND THR-429, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Two Beclin 1-binding proteins, Atg14L and Rubicon, reciprocally regulate autophagy at different stages."
      Matsunaga K., Saitoh T., Tabata K., Omori H., Satoh T., Kurotori N., Maejima I., Shirahama-Noda K., Ichimura T., Isobe T., Akira S., Noda T., Yoshimori T.
      Nat. Cell Biol. 11:385-396(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH BECN1; PIK3C3 AND PIK3R4, SUBCELLULAR LOCATION.
    11. "Autophagy requires endoplasmic reticulum targeting of the PI3-kinase complex via Atg14L."
      Matsunaga K., Morita E., Saitoh T., Akira S., Ktistakis N.T., Izumi T., Noda T., Yoshimori T.
      J. Cell Biol. 190:511-521(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, DOMAIN, MUTAGENESIS OF CYS-43; CYS-46; CYS-55 AND CYS-58.
    12. "Imperfect interface of Beclin1 coiled-coil domain regulates homodimer and heterodimer formation with Atg14L and UVRAG."
      Li X., He L., Che K.H., Funderburk S.F., Pan L., Pan N., Zhang M., Yue Z., Zhao Y.
      Nat. Commun. 3:662-662(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH BECN1, SUBCELLULAR LOCATION.
    13. "Beclin 2 functions in autophagy, degradation of G protein-coupled receptors, and metabolism."
      He C., Wei Y., Sun K., Li B., Dong X., Zou Z., Liu Y., Kinch L.N., Khan S., Sinha S., Xavier R.J., Grishin N.V., Xiao G., Eskelinen E.L., Scherer P.E., Whistler J.L., Levine B.
      Cell 154:1085-1099(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH BECN1P1/BECN2.

    Entry informationi

    Entry nameiBAKOR_HUMAN
    AccessioniPrimary (citable) accession number: Q6ZNE5
    Secondary accession number(s): A6NJE4
    , A8K9U5, B7ZWP5, O94920, Q32MK7, Q32MK8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2005
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 87 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 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