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O15160

- RPAC1_HUMAN

UniProt

O15160 - RPAC1_HUMAN

Protein

DNA-directed RNA polymerases I and III subunit RPAC1

Gene

POLR1C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft By similarity.By similarity

    GO - Molecular functioni

    1. DNA binding Source: InterPro
    2. DNA-directed RNA polymerase activity Source: ProtInc

    GO - Biological processi

    1. gene expression Source: Reactome
    2. innate immune response Source: Reactome
    3. positive regulation of type I interferon production Source: Reactome
    4. termination of RNA polymerase III transcription Source: Reactome
    5. termination of RNA polymerase I transcription Source: Reactome
    6. transcription elongation from RNA polymerase III promoter Source: Reactome
    7. transcription elongation from RNA polymerase I promoter Source: Reactome
    8. transcription from RNA polymerase III promoter Source: Reactome
    9. transcription from RNA polymerase I promoter Source: Reactome
    10. transcription initiation from RNA polymerase I promoter Source: Reactome

    Keywords - Biological processi

    Transcription

    Enzyme and pathway databases

    ReactomeiREACT_1036. RNA Polymerase III Transcription Initiation From Type 2 Promoter.
    REACT_1074. RNA Polymerase I Transcription Termination.
    REACT_1913. RNA Polymerase I Promoter Escape.
    REACT_200856. NoRC negatively regulates rRNA expression.
    REACT_2204. RNA Polymerase I Chain Elongation.
    REACT_22339. RNA Polymerase III Abortive And Retractive Initiation.
    REACT_347. RNA Polymerase III Transcription Initiation From Type 1 Promoter.
    REACT_571. RNA Polymerase III Transcription Initiation From Type 3 Promoter.
    REACT_63. RNA Polymerase III Transcription Termination.
    REACT_756. RNA Polymerase III Chain Elongation.
    REACT_953. RNA Polymerase I Transcription Initiation.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DNA-directed RNA polymerases I and III subunit RPAC1
    Short name:
    DNA-directed RNA polymerase I subunit C
    Short name:
    RNA polymerases I and III subunit AC1
    Alternative name(s):
    AC40
    DNA-directed RNA polymerases I and III 40 kDa polypeptide
    Short name:
    RPA40
    RPA39
    RPC40
    Gene namesi
    Name:POLR1C
    Synonyms:POLR1E
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:20194. POLR1C.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. DNA-directed RNA polymerase I complex Source: ProtInc
    3. DNA-directed RNA polymerase III complex Source: MGI
    4. nucleoplasm Source: Reactome

    Keywords - Cellular componenti

    DNA-directed RNA polymerase, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Treacher Collins syndrome 3 (TCS3) [MIM:248390]: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti279 – 2791R → Q in TCS3. 1 Publication
    Corresponds to variant rs191582628 [ dbSNP | Ensembl ].
    VAR_064899
    Natural varianti279 – 2791R → W in TCS3. 1 Publication
    VAR_064900

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi248390. phenotype.
    Orphaneti861. Treacher-Collins syndrome.
    PharmGKBiPA134882004.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed4 Publications
    Chaini2 – 346345DNA-directed RNA polymerases I and III subunit RPAC1PRO_0000132739Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine4 Publications

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO15160.
    PaxDbiO15160.
    PRIDEiO15160.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00217386.
    SWISS-2DPAGEO15160.

    PTM databases

    PhosphoSiteiO15160.

    Expressioni

    Gene expression databases

    ArrayExpressiO15160.
    BgeeiO15160.
    CleanExiHS_POLR1C.
    HS_POLR1E.
    GenevestigatoriO15160.

    Organism-specific databases

    HPAiHPA031010.

    Interactioni

    Subunit structurei

    Component of the RNA polymerase I (Pol I) and RNA polymerase III (Pol III) complexes consisting of at least 13 and 17 subunits, respectively.By similarity

    Protein-protein interaction databases

    BioGridi114909. 49 interactions.
    DIPiDIP-27587N.
    IntActiO15160. 22 interactions.
    MINTiMINT-1137932.
    STRINGi9606.ENSP00000361465.

    Structurei

    3D structure databases

    ProteinModelPortaliO15160.
    SMRiO15160. Positions 40-332.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0202.
    HOGENOMiHOG000230845.
    HOVERGENiHBG017743.
    InParanoidiO15160.
    KOiK03027.
    OMAiGKCQRFL.
    PhylomeDBiO15160.
    TreeFamiTF103034.

    Family and domain databases

    Gene3Di2.170.120.12. 1 hit.
    InterProiIPR001514. DNA-dir_RNA_pol_30-40kDasu_CS.
    IPR011262. DNA-dir_RNA_pol_insert.
    IPR011263. DNA-dir_RNA_pol_RpoA/D/Rpb3.
    IPR009025. RBP11-like_dimer.
    [Graphical view]
    PfamiPF01000. RNA_pol_A_bac. 1 hit.
    PF01193. RNA_pol_L. 1 hit.
    [Graphical view]
    SMARTiSM00662. RPOLD. 1 hit.
    [Graphical view]
    SUPFAMiSSF55257. SSF55257. 2 hits.
    SSF56553. SSF56553. 1 hit.
    PROSITEiPS00446. RNA_POL_D_30KD. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O15160-1) [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

    MAASQAVEEM RSRVVLGEFG VRNVHTTDFP GNYSGYDDAW DQDRFEKNFR    50
    VDVVHMDENS LEFDMVGIDA AIANAFRRIL LAEVPTMAVE KVLVYNNTSI 100
    VQDEILAHRL GLIPIHADPR LFEYRNQGDE EGTEIDTLQF RLQVRCTRNP 150
    HAAKDSSDPN ELYVNHKVYT RHMTWIPLGN QADLFPEGTI RPVHDDILIA 200
    QLRPGQEIDL LMHCVKGIGK DHAKFSPVAT ASYRLLPDIT LLEPVEGEAA 250
    EELSRCFSPG VIEVQEVQGK KVARVANPRL DTFSREIFRN EKLKKVVRLA 300
    RVRDHYIFSV ESTGVLPPDV LVSEAIKVLM GKCRRFLDEL DAVQMD 346
    Length:346
    Mass (Da):39,250
    Last modified:January 1, 1998 - v1
    Checksum:iB7D558BC8F33D92E
    GO
    Isoform 2 (identifier: O15160-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         308-346: FSVESTGVLPPDVLVSEAIKVLMGKCRRFLDELDAVQMD → CKKDLLAAVAHTCNPSTLGGQGEWITGSRERDHPG

    Note: No experimental confirmation available.

    Show »
    Length:342
    Mass (Da):38,647
    Checksum:i9E2785123BB74D8B
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti279 – 2791R → Q in TCS3. 1 Publication
    Corresponds to variant rs191582628 [ dbSNP | Ensembl ].
    VAR_064899
    Natural varianti279 – 2791R → W in TCS3. 1 Publication
    VAR_064900

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei308 – 34639FSVES…AVQMD → CKKDLLAAVAHTCNPSTLGG QGEWITGSRERDHPG in isoform 2. 1 PublicationVSP_005913Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF008442 mRNA. Translation: AAC14354.1.
    AF047441 mRNA. Translation: AAC39892.1.
    AL355802 Genomic DNA. Translation: CAI42629.1.
    BC008863 mRNA. Translation: AAH08863.1.
    CCDSiCCDS4901.1. [O15160-1]
    RefSeqiNP_976035.1. NM_203290.2. [O15160-1]
    XP_005249548.1. XM_005249491.1. [O15160-2]
    UniGeneiHs.743509.

    Genome annotation databases

    EnsembliENST00000304004; ENSP00000307212; ENSG00000171453. [O15160-2]
    ENST00000372389; ENSP00000361465; ENSG00000171453. [O15160-1]
    GeneIDi9533.
    KEGGihsa:9533.
    UCSCiuc003ovn.3. human. [O15160-1]
    uc003ovo.2. human. [O15160-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF008442 mRNA. Translation: AAC14354.1 .
    AF047441 mRNA. Translation: AAC39892.1 .
    AL355802 Genomic DNA. Translation: CAI42629.1 .
    BC008863 mRNA. Translation: AAH08863.1 .
    CCDSi CCDS4901.1. [O15160-1 ]
    RefSeqi NP_976035.1. NM_203290.2. [O15160-1 ]
    XP_005249548.1. XM_005249491.1. [O15160-2 ]
    UniGenei Hs.743509.

    3D structure databases

    ProteinModelPortali O15160.
    SMRi O15160. Positions 40-332.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114909. 49 interactions.
    DIPi DIP-27587N.
    IntActi O15160. 22 interactions.
    MINTi MINT-1137932.
    STRINGi 9606.ENSP00000361465.

    PTM databases

    PhosphoSitei O15160.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00217386.
    SWISS-2DPAGE O15160.

    Proteomic databases

    MaxQBi O15160.
    PaxDbi O15160.
    PRIDEi O15160.

    Protocols and materials databases

    DNASUi 9533.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000304004 ; ENSP00000307212 ; ENSG00000171453 . [O15160-2 ]
    ENST00000372389 ; ENSP00000361465 ; ENSG00000171453 . [O15160-1 ]
    GeneIDi 9533.
    KEGGi hsa:9533.
    UCSCi uc003ovn.3. human. [O15160-1 ]
    uc003ovo.2. human. [O15160-2 ]

    Organism-specific databases

    CTDi 9533.
    GeneCardsi GC06P043484.
    GeneReviewsi POLR1C.
    H-InvDB HIX0005907.
    HGNCi HGNC:20194. POLR1C.
    HPAi HPA031010.
    MIMi 248390. phenotype.
    610060. gene.
    neXtProti NX_O15160.
    Orphaneti 861. Treacher-Collins syndrome.
    PharmGKBi PA134882004.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0202.
    HOGENOMi HOG000230845.
    HOVERGENi HBG017743.
    InParanoidi O15160.
    KOi K03027.
    OMAi GKCQRFL.
    PhylomeDBi O15160.
    TreeFami TF103034.

    Enzyme and pathway databases

    Reactomei REACT_1036. RNA Polymerase III Transcription Initiation From Type 2 Promoter.
    REACT_1074. RNA Polymerase I Transcription Termination.
    REACT_1913. RNA Polymerase I Promoter Escape.
    REACT_200856. NoRC negatively regulates rRNA expression.
    REACT_2204. RNA Polymerase I Chain Elongation.
    REACT_22339. RNA Polymerase III Abortive And Retractive Initiation.
    REACT_347. RNA Polymerase III Transcription Initiation From Type 1 Promoter.
    REACT_571. RNA Polymerase III Transcription Initiation From Type 3 Promoter.
    REACT_63. RNA Polymerase III Transcription Termination.
    REACT_756. RNA Polymerase III Chain Elongation.
    REACT_953. RNA Polymerase I Transcription Initiation.

    Miscellaneous databases

    GeneWikii POLR1C.
    GenomeRNAii 9533.
    NextBioi 35740.
    PROi O15160.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15160.
    Bgeei O15160.
    CleanExi HS_POLR1C.
    HS_POLR1E.
    Genevestigatori O15160.

    Family and domain databases

    Gene3Di 2.170.120.12. 1 hit.
    InterProi IPR001514. DNA-dir_RNA_pol_30-40kDasu_CS.
    IPR011262. DNA-dir_RNA_pol_insert.
    IPR011263. DNA-dir_RNA_pol_RpoA/D/Rpb3.
    IPR009025. RBP11-like_dimer.
    [Graphical view ]
    Pfami PF01000. RNA_pol_A_bac. 1 hit.
    PF01193. RNA_pol_L. 1 hit.
    [Graphical view ]
    SMARTi SM00662. RPOLD. 1 hit.
    [Graphical view ]
    SUPFAMi SSF55257. SSF55257. 2 hits.
    SSF56553. SSF56553. 1 hit.
    PROSITEi PS00446. RNA_POL_D_30KD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of the human RNA polymerase I subunit hRPA40."
      Dammann R., Pfeifer G.P.
      Biochim. Biophys. Acta 1396:153-157(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning."
      Mao M., Fu G., Wu J.-S., Zhang Q.-H., Zhou J., Kan L.-X., Huang Q.-H., He K.-L., Gu B.-W., Han Z.-G., Shen Y., Gu J., Yu Y.-P., Xu S.-H., Wang Y.-X., Chen S.-J., Chen Z.
      Proc. Natl. Acad. Sci. U.S.A. 95:8175-8180(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Umbilical cord blood.
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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: Brain.
    5. Bienvenut W.V., Lilla S., von Kriegsheim A., Lempens A., Kolch W.
      Submitted (DEC-2008) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-11; 14-22; 79-91; 110-120; 155-167 AND 225-255, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Ovarian carcinoma.
    6. "Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits."
      Hu P., Wu S., Sun Y., Yuan C.-C., Kobayashi R., Myers M.P., Hernandez N.
      Mol. Cell. Biol. 22:8044-8055(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE RNA POL III COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
    7. "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells."
      Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J.
      Nat. Biotechnol. 23:94-101(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: VARIANTS TCS3 GLN-279 AND TRP-279.

    Entry informationi

    Entry nameiRPAC1_HUMAN
    AccessioniPrimary (citable) accession number: O15160
    Secondary accession number(s): O75395, Q5JTE3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 152 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: 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