Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q06547

- GABP1_HUMAN

UniProt

Q06547 - GABP1_HUMAN

Protein

GA-binding protein subunit beta-1

Gene

GABPB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 2 (19 Sep 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene.2 Publications

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. protein heterodimerization activity Source: MGI
    3. sequence-specific DNA binding transcription factor activity Source: ProtInc
    4. transcription regulatory region DNA binding Source: MGI

    GO - Biological processi

    1. positive regulation of transcription from RNA polymerase II promoter Source: MGI
    2. regulation of transcription from RNA polymerase II promoter Source: ProtInc
    3. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Enzyme and pathway databases

    ReactomeiREACT_200608. Transcriptional activation of mitochondrial biogenesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    GA-binding protein subunit beta-1
    Short name:
    GABP subunit beta-1
    Short name:
    GABPB-1
    Alternative name(s):
    GABP subunit beta-2
    Short name:
    GABPB-2
    Nuclear respiratory factor 2
    Transcription factor E4TF1-47
    Transcription factor E4TF1-53
    Gene namesi
    Name:GABPB1
    Synonyms:E4TF1B, GABPB, GABPB2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:4074. GABPB1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: MGI

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi262 – 2632QQ → AA: Minor reduction in transcriptional activation; when associated with A-295 or A-305 and A-306. 1 Publication
    Mutagenesisi264 – 2652VV → AA: Minor effect upon interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-297; A-298 and A-299, or with A-307 and A-310. 1 Publication
    Mutagenesisi270 – 2712QQ → AA: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-305 and A-306. 1 Publication
    Mutagenesisi273 – 2753ITI → ATA: Strongly reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-297; A-298 and A-299, or with A-307 and A-310. 1 Publication
    Mutagenesisi295 – 2951Q → A: No effect on transcriptional activation. Minor reduction in activity; when associated with A-270 and A-271. 2 Publications
    Mutagenesisi297 – 2993IIV → AAA: Strongly reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-264 and A-265, or A-273 and A-275. 1 Publication
    Mutagenesisi305 – 3062QQ → AA: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-270 and A-271. 1 Publication
    Mutagenesisi307 – 3104VLTV → ALTA: Moderately reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-273 and A-275. 1 Publication

    Organism-specific databases

    PharmGKBiPA162389163.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 395394GA-binding protein subunit beta-1PRO_0000066993Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ06547.
    PaxDbiQ06547.
    PRIDEiQ06547.

    PTM databases

    PhosphoSiteiQ06547.

    Expressioni

    Gene expression databases

    ArrayExpressiQ06547.
    BgeeiQ06547.
    CleanExiHS_GABPB1.
    HS_GABPB2.
    GenevestigatoriQ06547.

    Organism-specific databases

    HPAiHPA019653.

    Interactioni

    Subunit structurei

    Heterotetramer of two alpha and two beta subunits. Interacts with HCFC1, causing repression of transcriptional activity.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Bai2Q8CGM13EBI-618165,EBI-8014984From a different organism.
    HCFC1P516106EBI-618189,EBI-396176
    MAGEB18Q96M613EBI-618165,EBI-741835

    Protein-protein interaction databases

    BioGridi108827. 14 interactions.
    IntActiQ06547. 15 interactions.
    MINTiMINT-1504045.
    STRINGi9606.ENSP00000370259.

    Structurei

    3D structure databases

    ProteinModelPortaliQ06547.
    SMRiQ06547. Positions 5-229.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati5 – 3430ANK 1Add
    BLAST
    Repeati37 – 6630ANK 2Add
    BLAST
    Repeati70 – 9930ANK 3Add
    BLAST
    Repeati103 – 13230ANK 4Add
    BLAST
    Repeati136 – 16631ANK 5Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni258 – 32770Transcription activation and HCFC1 interactionAdd
    BLAST

    Sequence similaritiesi

    Contains 5 ANK repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat

    Phylogenomic databases

    eggNOGiCOG0666.
    HOVERGENiHBG051686.
    InParanoidiQ06547.
    KOiK09454.
    OMAiVKRQCIE.
    OrthoDBiEOG7ZD1W2.
    PhylomeDBiQ06547.
    TreeFamiTF326036.

    Family and domain databases

    Gene3Di1.25.40.20. 2 hits.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    [Graphical view]
    PfamiPF00023. Ank. 3 hits.
    [Graphical view]
    PRINTSiPR01415. ANKYRIN.
    SMARTiSM00248. ANK. 4 hits.
    [Graphical view]
    SUPFAMiSSF48403. SSF48403. 1 hit.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 3 hits.
    [Graphical view]

    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: Q06547-1) [UniParc]FASTAAdd to Basket

    Also known as: GABPB-1, Beta-1

    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

    MSLVDLGKKL LEAARAGQDD EVRILMANGA PFTTDWLGTS PLHLAAQYGH    50
    YSTTEVLLRA GVSRDARTKV DRTPLHMAAS EGHASIVEVL LKHGADVNAK 100
    DMLKMTALHW ATEHNHQEVV ELLIKYGADV HTQSKFCKTA FDISIDNGNE 150
    DLAEILQIAM QNQINTNPES PDTVTIHAAT PQFIIGPGGV VNLTGLVSSE 200
    NSSKATDETG VSAVQFGNSS TSVLATLAAL AEASAPLSNS SETPVVATEE 250
    VVTAESVDGA IQQVVSSGGQ QVITIVTDGI QLGNLHSIPT SGIGQPIIVT 300
    MPDGQQVLTV PATDIAEETV ISEEPPAKRQ CIEIIENRVE SAEIEEREAL 350
    QKQLDEANRE AQKYRQQLLK KEQEAEAYRQ KLEAMTRLQT NKEAV 395
    Length:395
    Mass (Da):42,483
    Last modified:September 19, 2002 - v2
    Checksum:i723D63962FB29BD9
    GO
    Isoform 2 (identifier: Q06547-2) [UniParc]FASTAAdd to Basket

    Also known as: Beta-2

    The sequence of this isoform differs from the canonical sequence as follows:
         195-206: Missing.

    Show »
    Length:383
    Mass (Da):41,321
    Checksum:i07E7081A60016288
    GO
    Isoform 3 (identifier: Q06547-3) [UniParc]FASTAAdd to Basket

    Also known as: GABPB-2, Gamma-1

    The sequence of this isoform differs from the canonical sequence as follows:
         346-395: EREALQKQLDEANREAQKYRQQLLKKEQEAEAYRQKLEAMTRLQTNKEAV → VRSLLPGVLCRSHPK

    Show »
    Length:360
    Mass (Da):38,111
    Checksum:i39917E58EF91120F
    GO
    Isoform 4 (identifier: Q06547-4) [UniParc]FASTAAdd to Basket

    Also known as: Gamma-2

    The sequence of this isoform differs from the canonical sequence as follows:
         195-206: Missing.
         346-395: EREALQKQLDEANREAQKYRQQLLKKEQEAEAYRQKLEAMTRLQTNKEAV → VRSLLPGVLCRSHPK

    Show »
    Length:348
    Mass (Da):36,950
    Checksum:i9657186214E046D5
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti76 – 761H → L AA sequence (PubMed:7918435)Curated
    Sequence conflicti246 – 2461Missing in BAA02573. (PubMed:8441384)Curated
    Sequence conflicti274 – 2741T → A in AAH36080. (PubMed:15489334)Curated
    Sequence conflicti341 – 3411S → C AA sequence (PubMed:8383622)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311P → A in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035613

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei195 – 20612Missing in isoform 2 and isoform 4. 3 PublicationsVSP_000275Add
    BLAST
    Alternative sequencei346 – 39550EREAL…NKEAV → VRSLLPGVLCRSHPK in isoform 3 and isoform 4. 3 PublicationsVSP_009337Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D13316 mRNA. Translation: BAA02573.1.
    D13317 mRNA. Translation: BAA02574.1.
    U13045 mRNA. Translation: AAA65707.1.
    U13046 mRNA. Translation: AAA65708.1.
    U13047 mRNA. Translation: AAA65709.1.
    U13048 mRNA. Translation: AAA65710.1.
    EU159454 mRNA. Translation: ABV90874.1.
    BT006652 mRNA. Translation: AAP35298.1.
    CH471082 Genomic DNA. Translation: EAW77395.1.
    BC016910 mRNA. Translation: AAH16910.1.
    BC036080 mRNA. Translation: AAH36080.1.
    BC050702 mRNA. Translation: AAH50702.1.
    CCDSiCCDS10135.1. [Q06547-2]
    CCDS10136.1. [Q06547-4]
    CCDS32239.1. [Q06547-1]
    CCDS45258.1. [Q06547-3]
    PIRiC48146.
    I38741.
    I38743.
    I38744.
    RefSeqiNP_002032.2. NM_002041.4. [Q06547-3]
    NP_005245.2. NM_005254.5. [Q06547-1]
    NP_057738.1. NM_016654.4. [Q06547-2]
    NP_057739.1. NM_016655.4. [Q06547-4]
    NP_852092.1. NM_181427.3. [Q06547-4]
    XP_005254330.1. XM_005254273.2. [Q06547-1]
    XP_005254331.1. XM_005254274.2. [Q06547-1]
    UniGeneiHs.654350.

    Genome annotation databases

    EnsembliENST00000220429; ENSP00000220429; ENSG00000104064. [Q06547-1]
    ENST00000359031; ENSP00000351923; ENSG00000104064. [Q06547-4]
    ENST00000380877; ENSP00000370259; ENSG00000104064. [Q06547-2]
    ENST00000396464; ENSP00000379728; ENSG00000104064. [Q06547-4]
    ENST00000429662; ENSP00000395771; ENSG00000104064. [Q06547-3]
    GeneIDi2553.
    KEGGihsa:2553.
    UCSCiuc001zya.3. human. [Q06547-2]
    uc001zyb.3. human. [Q06547-1]
    uc001zyc.3. human. [Q06547-4]
    uc001zye.3. human. [Q06547-3]

    Polymorphism databases

    DMDMi23503070.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D13316 mRNA. Translation: BAA02573.1 .
    D13317 mRNA. Translation: BAA02574.1 .
    U13045 mRNA. Translation: AAA65707.1 .
    U13046 mRNA. Translation: AAA65708.1 .
    U13047 mRNA. Translation: AAA65709.1 .
    U13048 mRNA. Translation: AAA65710.1 .
    EU159454 mRNA. Translation: ABV90874.1 .
    BT006652 mRNA. Translation: AAP35298.1 .
    CH471082 Genomic DNA. Translation: EAW77395.1 .
    BC016910 mRNA. Translation: AAH16910.1 .
    BC036080 mRNA. Translation: AAH36080.1 .
    BC050702 mRNA. Translation: AAH50702.1 .
    CCDSi CCDS10135.1. [Q06547-2 ]
    CCDS10136.1. [Q06547-4 ]
    CCDS32239.1. [Q06547-1 ]
    CCDS45258.1. [Q06547-3 ]
    PIRi C48146.
    I38741.
    I38743.
    I38744.
    RefSeqi NP_002032.2. NM_002041.4. [Q06547-3 ]
    NP_005245.2. NM_005254.5. [Q06547-1 ]
    NP_057738.1. NM_016654.4. [Q06547-2 ]
    NP_057739.1. NM_016655.4. [Q06547-4 ]
    NP_852092.1. NM_181427.3. [Q06547-4 ]
    XP_005254330.1. XM_005254273.2. [Q06547-1 ]
    XP_005254331.1. XM_005254274.2. [Q06547-1 ]
    UniGenei Hs.654350.

    3D structure databases

    ProteinModelPortali Q06547.
    SMRi Q06547. Positions 5-229.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108827. 14 interactions.
    IntActi Q06547. 15 interactions.
    MINTi MINT-1504045.
    STRINGi 9606.ENSP00000370259.

    PTM databases

    PhosphoSitei Q06547.

    Polymorphism databases

    DMDMi 23503070.

    Proteomic databases

    MaxQBi Q06547.
    PaxDbi Q06547.
    PRIDEi Q06547.

    Protocols and materials databases

    DNASUi 2553.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000220429 ; ENSP00000220429 ; ENSG00000104064 . [Q06547-1 ]
    ENST00000359031 ; ENSP00000351923 ; ENSG00000104064 . [Q06547-4 ]
    ENST00000380877 ; ENSP00000370259 ; ENSG00000104064 . [Q06547-2 ]
    ENST00000396464 ; ENSP00000379728 ; ENSG00000104064 . [Q06547-4 ]
    ENST00000429662 ; ENSP00000395771 ; ENSG00000104064 . [Q06547-3 ]
    GeneIDi 2553.
    KEGGi hsa:2553.
    UCSCi uc001zya.3. human. [Q06547-2 ]
    uc001zyb.3. human. [Q06547-1 ]
    uc001zyc.3. human. [Q06547-4 ]
    uc001zye.3. human. [Q06547-3 ]

    Organism-specific databases

    CTDi 2553.
    GeneCardsi GC15M050569.
    HGNCi HGNC:4074. GABPB1.
    HPAi HPA019653.
    MIMi 600610. gene.
    neXtProti NX_Q06547.
    PharmGKBi PA162389163.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0666.
    HOVERGENi HBG051686.
    InParanoidi Q06547.
    KOi K09454.
    OMAi VKRQCIE.
    OrthoDBi EOG7ZD1W2.
    PhylomeDBi Q06547.
    TreeFami TF326036.

    Enzyme and pathway databases

    Reactomei REACT_200608. Transcriptional activation of mitochondrial biogenesis.

    Miscellaneous databases

    GeneWikii GABPB2.
    GenomeRNAii 2553.
    NextBioi 10075.
    PROi Q06547.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q06547.
    Bgeei Q06547.
    CleanExi HS_GABPB1.
    HS_GABPB2.
    Genevestigatori Q06547.

    Family and domain databases

    Gene3Di 1.25.40.20. 2 hits.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    [Graphical view ]
    Pfami PF00023. Ank. 3 hits.
    [Graphical view ]
    PRINTSi PR01415. ANKYRIN.
    SMARTi SM00248. ANK. 4 hits.
    [Graphical view ]
    SUPFAMi SSF48403. SSF48403. 1 hit.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "cDNA cloning of transcription factor E4TF1 subunits with Ets and notch motifs."
      Watanabe H., Sawada J., Yano K., Yamaguchi K., Goto M., Handa H.
      Mol. Cell. Biol. 13:1385-1391(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "Four structurally distinct, non-DNA-binding subunits of human nuclear respiratory factor 2 share a conserved transcriptional activation domain."
      Gugneja S., Virbasius J.V., Scarpulla R.C.
      Mol. Cell. Biol. 15:102-111(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4).
      Tissue: Testis.
    3. Yang S.J., Li K.N., Zhang Y.Q.
      Submitted (SEP-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Hepatoma.
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORMS 1; 2 AND 3).
      Tissue: Prostate, Testis and Uterus.
    7. "Purification and characterization of nuclear factors binding to the negative regulatory element D of human apolipoprotein A-II promoter: a negative regulatory effect is reversed by GABP, an Ets-related protein."
      Cardot P., Pastier D., Lacorte J.-M., Mangeney M., Zannis V.I., Chambaz J.
      Biochemistry 33:12139-12148(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 74-81.
    8. "Identity of GABP with NRF-2, a multisubunit activator of cytochrome oxidase expression, reveals a cellular role for an ETS domain activator of viral promoters."
      Virbasius J.V., Virbasius C.A., Scarpulla R.C.
      Genes Dev. 7:380-392(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 105-125 AND 339-385.
    9. "Nuclear respiratory factors 1 and 2 utilize similar glutamine-containing clusters of hydrophobic residues to activate transcription."
      Gugneja S., Virbasius C.M., Scarpulla R.C.
      Mol. Cell. Biol. 16:5708-5716(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF 262-GLN-GLN-263; 264-VAL-VAL-265; 270-GLN-GLN-271; 273-ILE--ILE-275; GLN-295; 297-ILE--VAL-299; 305-GLN-GLN-306 AND 307-VAL--VAL-310.
    10. "The novel coactivator C1 (HCF) coordinates multiprotein enhancer formation and mediates transcription activation by GABP."
      Vogel J.L., Kristie T.M.
      EMBO J. 19:683-690(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH HCFC1, MUTAGENESIS OF 264-VAL-VAL-265; 273-ILE--ILE-275; 297-ILE--VAL-299 AND 307-VAL--VAL-310.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    13. Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-31.

    Entry informationi

    Entry nameiGABP1_HUMAN
    AccessioniPrimary (citable) accession number: Q06547
    Secondary accession number(s): A8IE52
    , Q06545, Q12940, Q12941, Q12942, Q8IYD0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: September 19, 2002
    Last modified: October 1, 2014
    This is version 154 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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