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P53680

- AP2S1_HUMAN

UniProt

P53680 - AP2S1_HUMAN

Protein

AP-2 complex subunit sigma

Gene

AP2S1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif By similarity. May also play a role in extracellular calcium homeostasis.By similarity4 Publications

    GO - Molecular functioni

    1. protein transporter activity Source: UniProtKB
    2. transporter activity Source: ProtInc

    GO - Biological processi

    1. antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
    2. axon guidance Source: Reactome
    3. clathrin coat assembly Source: UniProtKB
    4. endocytosis Source: UniProtKB-KW
    5. epidermal growth factor receptor signaling pathway Source: Reactome
    6. intracellular protein transport Source: InterPro
    7. negative regulation of epidermal growth factor receptor signaling pathway Source: Reactome
    8. neurotrophin TRK receptor signaling pathway Source: Reactome
    9. regulation of defense response to virus by virus Source: Reactome
    10. regulation of endocytosis Source: UniProtKB
    11. synaptic transmission Source: Reactome
    12. viral process Source: Reactome

    Keywords - Biological processi

    Endocytosis, Protein transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_11166. Nef Mediated CD4 Down-regulation.
    REACT_11200. Nef Mediated CD8 Down-regulation.
    REACT_121399. MHC class II antigen presentation.
    REACT_12435. Retrograde neurotrophin signalling.
    REACT_12484. EGFR downregulation.
    REACT_172599. WNT5A-dependent internalization of FZD4.
    REACT_18422. Trafficking of GluR2-containing AMPA receptors.
    REACT_22365. Recycling pathway of L1.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    AP-2 complex subunit sigma
    Alternative name(s):
    Adaptor protein complex AP-2 subunit sigma
    Adaptor-related protein complex 2 subunit sigma
    Clathrin assembly protein 2 sigma small chain
    Clathrin coat assembly protein AP17
    Clathrin coat-associated protein AP17
    HA2 17 kDa subunit
    Plasma membrane adaptor AP-2 17 kDa protein
    Sigma2-adaptin
    Gene namesi
    Name:AP2S1
    Synonyms:AP17, CLAPS2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:565. AP2S1.

    Subcellular locationi

    Cell membrane. Membranecoated pit; Peripheral membrane protein; Cytoplasmic side
    Note: AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV.By similarity

    GO - Cellular componenti

    1. AP-2 adaptor complex Source: UniProtKB
    2. clathrin-coated endocytic vesicle membrane Source: Reactome
    3. cytosol Source: Reactome
    4. endocytic vesicle membrane Source: Reactome
    5. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Coated pit, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151R → C in HHC3; there is a rightward shift in Ca(2+)concentration-response curves with the mutant compared to wild-type, indicating a decrease in the sensitivity of cells expressing CASR to extracellular calcium. 1 Publication
    VAR_069570
    Natural varianti15 – 151R → H in HHC3; there is a rightward shift in Ca(2+)concentration-response curves with the mutant compared to wild-type, indicating a decrease in the sensitivity of cells expressing CASR to extracellular calcium. 1 Publication
    VAR_069571
    Natural varianti15 – 151R → L in HHC3; there is a rightward shift in Ca(2+)concentration-response curves with the mutant compared to wild-type, indicating a decrease in the sensitivity of cells expressing CASR to extracellular calcium. 1 Publication
    VAR_069572

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi600740. phenotype.
    Orphaneti101050. Familial hypocalciuric hypercalcemia type 3.
    PharmGKBiPA24856.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 142142AP-2 complex subunit sigmaPRO_0000193804Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei140 – 1401Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP53680.
    PaxDbiP53680.
    PRIDEiP53680.

    PTM databases

    PhosphoSiteiP53680.

    Expressioni

    Gene expression databases

    ArrayExpressiP53680.
    BgeeiP53680.
    CleanExiHS_AP2S1.
    GenevestigatoriP53680.

    Interactioni

    Subunit structurei

    Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1).

    Protein-protein interaction databases

    BioGridi107589. 15 interactions.
    IntActiP53680. 6 interactions.
    MINTiMINT-256650.
    STRINGi9606.ENSP00000263270.

    Structurei

    3D structure databases

    ProteinModelPortaliP53680.
    SMRiP53680. Positions 1-142.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG5030.
    HOGENOMiHOG000185227.
    HOVERGENiHBG050517.
    InParanoidiP53680.
    KOiK11827.
    OrthoDBiEOG7S7SGC.
    PhylomeDBiP53680.
    TreeFamiTF300139.

    Family and domain databases

    InterProiIPR016635. AP_complex_ssu.
    IPR022775. AP_mu_sigma_su.
    IPR027156. APS2.
    IPR000804. Clathrin_sm-chain_CS.
    IPR011012. Longin-like_dom.
    [Graphical view]
    PANTHERiPTHR11753. PTHR11753. 1 hit.
    PTHR11753:SF6. PTHR11753:SF6. 1 hit.
    PfamiPF01217. Clat_adaptor_s. 1 hit.
    [Graphical view]
    PIRSFiPIRSF015588. AP_complex_sigma. 1 hit.
    SUPFAMiSSF64356. SSF64356. 1 hit.
    PROSITEiPS00989. CLAT_ADAPTOR_S. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P53680-1) [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

    MIRFILIQNR AGKTRLAKWY MQFDDDEKQK LIEEVHAVVT VRDAKHTNFV    50
    EFRNFKIIYR RYAGLYFCIC VDVNDNNLAY LEAIHNFVEV LNEYFHNVCE 100
    LDLVFNFYKV YTVVDEMFLA GEIRETSQTK VLKQLLMLQS LE 142
    Length:142
    Mass (Da):17,018
    Last modified:August 16, 2004 - v2
    Checksum:iCA3FD868C65AEDF6
    GO
    Isoform 2 (identifier: P53680-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         52-89: Missing.

    Show »
    Length:104
    Mass (Da):12,417
    Checksum:i0240F8D55B64095C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti77 – 771N → K in CAA65782. (PubMed:9040778)Curated
    Sequence conflicti77 – 771N → K in CAA09018. (PubMed:9767099)Curated
    Sequence conflicti83 – 831A → G in CAA65782. (PubMed:9040778)Curated
    Sequence conflicti83 – 831A → G in CAA09018. (PubMed:9767099)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151R → C in HHC3; there is a rightward shift in Ca(2+)concentration-response curves with the mutant compared to wild-type, indicating a decrease in the sensitivity of cells expressing CASR to extracellular calcium. 1 Publication
    VAR_069570
    Natural varianti15 – 151R → H in HHC3; there is a rightward shift in Ca(2+)concentration-response curves with the mutant compared to wild-type, indicating a decrease in the sensitivity of cells expressing CASR to extracellular calcium. 1 Publication
    VAR_069571
    Natural varianti15 – 151R → L in HHC3; there is a rightward shift in Ca(2+)concentration-response curves with the mutant compared to wild-type, indicating a decrease in the sensitivity of cells expressing CASR to extracellular calcium. 1 Publication
    VAR_069572

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei52 – 8938Missing in isoform 2. 1 PublicationVSP_017352Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X97074 mRNA. Translation: CAA65782.1.
    AJ010148 mRNA. Translation: CAA09018.1.
    AJ010149 mRNA. Translation: CAA09019.1.
    AK312003 mRNA. Translation: BAG34941.1.
    CH471126 Genomic DNA. Translation: EAW57448.1.
    BC006337 mRNA. Translation: AAH06337.1.
    CCDSiCCDS12693.1. [P53680-2]
    CCDS33062.1. [P53680-1]
    RefSeqiNP_004060.2. NM_004069.3. [P53680-1]
    NP_067586.1. NM_021575.2. [P53680-2]
    UniGeneiHs.119591.

    Genome annotation databases

    EnsembliENST00000263270; ENSP00000263270; ENSG00000042753. [P53680-1]
    ENST00000601649; ENSP00000470898; ENSG00000042753. [P53680-2]
    GeneIDi1175.
    KEGGihsa:1175.
    UCSCiuc002pft.1. human. [P53680-1]
    uc002pfu.1. human. [P53680-2]

    Polymorphism databases

    DMDMi51338780.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X97074 mRNA. Translation: CAA65782.1 .
    AJ010148 mRNA. Translation: CAA09018.1 .
    AJ010149 mRNA. Translation: CAA09019.1 .
    AK312003 mRNA. Translation: BAG34941.1 .
    CH471126 Genomic DNA. Translation: EAW57448.1 .
    BC006337 mRNA. Translation: AAH06337.1 .
    CCDSi CCDS12693.1. [P53680-2 ]
    CCDS33062.1. [P53680-1 ]
    RefSeqi NP_004060.2. NM_004069.3. [P53680-1 ]
    NP_067586.1. NM_021575.2. [P53680-2 ]
    UniGenei Hs.119591.

    3D structure databases

    ProteinModelPortali P53680.
    SMRi P53680. Positions 1-142.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107589. 15 interactions.
    IntActi P53680. 6 interactions.
    MINTi MINT-256650.
    STRINGi 9606.ENSP00000263270.

    Chemistry

    BindingDBi P53680.

    PTM databases

    PhosphoSitei P53680.

    Polymorphism databases

    DMDMi 51338780.

    Proteomic databases

    MaxQBi P53680.
    PaxDbi P53680.
    PRIDEi P53680.

    Protocols and materials databases

    DNASUi 1175.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263270 ; ENSP00000263270 ; ENSG00000042753 . [P53680-1 ]
    ENST00000601649 ; ENSP00000470898 ; ENSG00000042753 . [P53680-2 ]
    GeneIDi 1175.
    KEGGi hsa:1175.
    UCSCi uc002pft.1. human. [P53680-1 ]
    uc002pfu.1. human. [P53680-2 ]

    Organism-specific databases

    CTDi 1175.
    GeneCardsi GC19M047341.
    HGNCi HGNC:565. AP2S1.
    MIMi 600740. phenotype.
    602242. gene.
    neXtProti NX_P53680.
    Orphaneti 101050. Familial hypocalciuric hypercalcemia type 3.
    PharmGKBi PA24856.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5030.
    HOGENOMi HOG000185227.
    HOVERGENi HBG050517.
    InParanoidi P53680.
    KOi K11827.
    OrthoDBi EOG7S7SGC.
    PhylomeDBi P53680.
    TreeFami TF300139.

    Enzyme and pathway databases

    Reactomei REACT_11166. Nef Mediated CD4 Down-regulation.
    REACT_11200. Nef Mediated CD8 Down-regulation.
    REACT_121399. MHC class II antigen presentation.
    REACT_12435. Retrograde neurotrophin signalling.
    REACT_12484. EGFR downregulation.
    REACT_172599. WNT5A-dependent internalization of FZD4.
    REACT_18422. Trafficking of GluR2-containing AMPA receptors.
    REACT_22365. Recycling pathway of L1.

    Miscellaneous databases

    ChiTaRSi AP2S1. human.
    GeneWikii AP2S1.
    GenomeRNAii 1175.
    NextBioi 4856.
    PROi P53680.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P53680.
    Bgeei P53680.
    CleanExi HS_AP2S1.
    Genevestigatori P53680.

    Family and domain databases

    InterProi IPR016635. AP_complex_ssu.
    IPR022775. AP_mu_sigma_su.
    IPR027156. APS2.
    IPR000804. Clathrin_sm-chain_CS.
    IPR011012. Longin-like_dom.
    [Graphical view ]
    PANTHERi PTHR11753. PTHR11753. 1 hit.
    PTHR11753:SF6. PTHR11753:SF6. 1 hit.
    Pfami PF01217. Clat_adaptor_s. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF015588. AP_complex_sigma. 1 hit.
    SUPFAMi SSF64356. SSF64356. 1 hit.
    PROSITEi PS00989. CLAT_ADAPTOR_S. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-->q13.3."
      Winterpacht A., Endele S., Enklaar T., Fuhry M., Zabel B.
      Cytogenet. Cell Genet. 75:132-135(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Kidney.
    2. "A novel spliced transcript of human CLAPS2 encoding a protein alternative to clathrin adaptor protein AP17."
      Holzmann K., Poeltl A., Sauermann G.
      Gene 220:39-44(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    3. "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: Tongue.
    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).
      Tissue: Uterus.
    6. "Adaptor protein complexes as the key regulators of protein sorting in the post-Golgi network."
      Nakatsu F., Ohno H.
      Cell Struct. Funct. 28:419-429(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION OF THE AP-2 COMPLEX IN CLATHRIN-MEDIATED ENDOCYTOSIS.
    7. "Adaptors for clathrin coats: structure and function."
      Owen D.J., Collins B.M., Evans P.R.
      Annu. Rev. Cell Dev. Biol. 20:153-191(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION OF THE AP-2 COMPLEX IN CLATHRIN-MEDIATED ENDOCYTOSIS.
    8. "The adaptor complex AP-2 regulates post-endocytic trafficking through the non-clathrin Arf6-dependent endocytic pathway."
      Lau A.W., Chou M.M.
      J. Cell Sci. 121:4008-4017(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION OF THE AP-2 COMPLEX IN NON-CLATHRIN-DEPENDENT ENDOCYTOSIS.
    9. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-140, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: FUNCTION, VARIANTS HHC3 CYS-15; HIS-15 AND LEU-15, CHARACTERIZATION OF VARIANTS HHC3 CYS-15; HIS-15 AND LEU-15.

    Entry informationi

    Entry nameiAP2S1_HUMAN
    AccessioniPrimary (citable) accession number: P53680
    Secondary accession number(s): B2R4Z4, O75977, Q6PK67
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: August 16, 2004
    Last modified: October 1, 2014
    This is version 121 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 19
      Human chromosome 19: 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