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O95497

- VNN1_HUMAN

UniProt

O95497 - VNN1_HUMAN

Protein

Pantetheinase

Gene

VNN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 2 (27 Sep 2005)
      Previous versions | rss
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    Functioni

    Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine.2 Publications

    Catalytic activityi

    (R)-pantetheine + H2O = (R)-pantothenate + 2-aminoethanethiol.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei79 – 791Proton acceptorPROSITE-ProRule annotation
    Active sitei178 – 1781Proton donorPROSITE-ProRule annotation
    Active sitei211 – 2111NucleophilePROSITE-ProRule annotation

    GO - Molecular functioni

    1. GPI anchor binding Source: BHF-UCL
    2. pantetheine hydrolase activity Source: BHF-UCL

    GO - Biological processi

    1. acute inflammatory response Source: BHF-UCL
    2. cellular component movement Source: ProtInc
    3. chronic inflammatory response Source: BHF-UCL
    4. inflammatory response Source: BHF-UCL
    5. innate immune response Source: BHF-UCL
    6. negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway Source: BHF-UCL
    7. pantothenate metabolic process Source: BHF-UCL
    8. positive regulation of T cell differentiation in thymus Source: BHF-UCL
    9. response to oxidative stress Source: BHF-UCL
    10. single organismal cell-cell adhesion Source: BHF-UCL

    Keywords - Molecular functioni

    Hydrolase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pantetheinase (EC:3.5.1.92)
    Alternative name(s):
    Pantetheine hydrolase
    Tiff66
    Vascular non-inflammatory molecule 1
    Short name:
    Vanin-1
    Gene namesi
    Name:VNN1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:12705. VNN1.

    Subcellular locationi

    GO - Cellular componenti

    1. anchored component of membrane Source: UniProtKB-KW
    2. extracellular vesicular exosome Source: UniProt
    3. integral component of membrane Source: BHF-UCL
    4. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37321.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 491470PantetheinasePRO_0000019712Add
    BLAST
    Propeptidei492 – 51322Removed in mature formSequence AnalysisPRO_0000019713Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi38 – 381N-linked (GlcNAc...)1 Publication
    Glycosylationi130 – 1301N-linked (GlcNAc...)1 Publication
    Glycosylationi200 – 2001N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi283 – 2831N-linked (GlcNAc...)1 Publication
    Glycosylationi315 – 3151N-linked (GlcNAc...)1 Publication
    Glycosylationi353 – 3531N-linked (GlcNAc...)3 Publications
    Lipidationi491 – 4911GPI-anchor amidated glycineSequence Analysis

    Keywords - PTMi

    Glycoprotein, GPI-anchor, Lipoprotein

    Proteomic databases

    PaxDbiO95497.
    PeptideAtlasiO95497.
    PRIDEiO95497.

    PTM databases

    PhosphoSiteiO95497.

    Expressioni

    Tissue specificityi

    Widely expressed with higher expression in spleen, kidney and blood. Overexpressed in lesional psoriatic skin.1 Publication

    Inductioni

    By Th17/Th1 type cytokines, but not by Th2-type.1 Publication

    Gene expression databases

    BgeeiO95497.
    CleanExiHS_VNN1.
    GenevestigatoriO95497.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000356905.

    Structurei

    3D structure databases

    ProteinModelPortaliO95497.
    SMRiO95497. Positions 54-241.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini25 – 328304CN hydrolasePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 CN hydrolase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG0388.
    HOVERGENiHBG003996.
    InParanoidiO95497.
    KOiK08069.
    OMAiRYYLQIC.
    OrthoDBiEOG7HF1J0.
    PhylomeDBiO95497.
    TreeFamiTF323645.

    Family and domain databases

    Gene3Di3.60.110.10. 1 hit.
    InterProiIPR012101. Biotinidase_euk.
    IPR003010. C-N_Hydrolase.
    [Graphical view]
    PANTHERiPTHR10609. PTHR10609. 1 hit.
    PfamiPF00795. CN_hydrolase. 1 hit.
    [Graphical view]
    PIRSFiPIRSF011861. Biotinidase. 1 hit.
    SUPFAMiSSF56317. SSF56317. 1 hit.
    PROSITEiPS50263. CN_HYDROLASE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    O95497-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTTQLPAYVA ILLFYVSRAS CQDTFTAAVY EHAAILPNAT LTPVSREEAL    50
    ALMNRNLDIL EGAITSAADQ GAHIIVTPED AIYGWNFNRD SLYPYLEDIP 100
    DPEVNWIPCN NRNRFGQTPV QERLSCLAKN NSIYVVANIG DKKPCDTSDP 150
    QCPPDGRYQY NTDVVFDSQG KLVARYHKQN LFMGENQFNV PKEPEIVTFN 200
    TTFGSFGIFT CFDILFHDPA VTLVKDFHVD TIVFPTAWMN VLPHLSAVEF 250
    HSAWAMGMRV NFLASNIHYP SKKMTGSGIY APNSSRAFHY DMKTEEGKLL 300
    LSQLDSHPSH SAVVNWTSYA SSIEALSSGN KEFKGTVFFD EFTFVKLTGV 350
    AGNYTVCQKD LCCHLSYKMS ENIPNEVYAL GAFDGLHTVE GRYYLQICTL 400
    LKCKTTNLNT CGDSAETAST RFEMFSLSGT FGTQYVFPEV LLSENQLAPG 450
    EFQVSTDGRL FSLKPTSGPV LTVTLFGRLY EKDWASNASS GLTAQARIIM 500
    LIVIAPIVCS LSW 513
    Length:513
    Mass (Da):57,012
    Last modified:September 27, 2005 - v2
    Checksum:i018D2417C12E403F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti101 – 1011D → N in AAH96268. (PubMed:15489334)Curated
    Sequence conflicti113 – 1131N → I in AAY88742. 1 PublicationCurated
    Sequence conflicti423 – 4231E → D in AAF21453. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti26 – 261T → I.4 Publications
    Corresponds to variant rs2294757 [ dbSNP | Ensembl ].
    VAR_023529
    Natural varianti63 – 631A → T.1 Publication
    VAR_023967
    Natural varianti131 – 1311N → S.2 Publications
    Corresponds to variant rs2272996 [ dbSNP | Ensembl ].
    VAR_023968
    Natural varianti136 – 1361V → L.1 Publication
    Corresponds to variant rs45610032 [ dbSNP | Ensembl ].
    VAR_023969
    Natural varianti146 – 1461D → N.1 Publication
    Corresponds to variant rs45624336 [ dbSNP | Ensembl ].
    VAR_023970
    Natural varianti296 – 2961E → D.1 Publication
    Corresponds to variant rs45523444 [ dbSNP | Ensembl ].
    VAR_023971
    Natural varianti325 – 3251A → E.1 Publication
    Corresponds to variant rs34535050 [ dbSNP | Ensembl ].
    VAR_023972
    Natural varianti336 – 3361T → A.1 Publication
    Corresponds to variant rs45562238 [ dbSNP | Ensembl ].
    VAR_023973
    Natural varianti373 – 3731I → T.1 Publication
    Corresponds to variant rs35938565 [ dbSNP | Ensembl ].
    VAR_023974

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ132099 mRNA. Translation: CAA10568.1.
    U39664 mRNA. Translation: AAF21453.1.
    AK290425 mRNA. Translation: BAF83114.1.
    DQ100297 Genomic DNA. Translation: AAY88742.1.
    AL032821 Genomic DNA. Translation: CAB40075.1.
    BC096265 mRNA. Translation: AAH96265.1.
    BC096266 mRNA. Translation: AAH96266.1.
    BC096267 mRNA. Translation: AAH96267.1.
    BC096268 mRNA. Translation: AAH96268.1.
    CCDSiCCDS5159.1.
    RefSeqiNP_004657.2. NM_004666.2.
    UniGeneiHs.12114.
    Hs.720659.

    Genome annotation databases

    EnsembliENST00000367928; ENSP00000356905; ENSG00000112299.
    GeneIDi8876.
    KEGGihsa:8876.
    UCSCiuc003qdo.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ132099 mRNA. Translation: CAA10568.1 .
    U39664 mRNA. Translation: AAF21453.1 .
    AK290425 mRNA. Translation: BAF83114.1 .
    DQ100297 Genomic DNA. Translation: AAY88742.1 .
    AL032821 Genomic DNA. Translation: CAB40075.1 .
    BC096265 mRNA. Translation: AAH96265.1 .
    BC096266 mRNA. Translation: AAH96266.1 .
    BC096267 mRNA. Translation: AAH96267.1 .
    BC096268 mRNA. Translation: AAH96268.1 .
    CCDSi CCDS5159.1.
    RefSeqi NP_004657.2. NM_004666.2.
    UniGenei Hs.12114.
    Hs.720659.

    3D structure databases

    ProteinModelPortali O95497.
    SMRi O95497. Positions 54-241.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000356905.

    PTM databases

    PhosphoSitei O95497.

    Proteomic databases

    PaxDbi O95497.
    PeptideAtlasi O95497.
    PRIDEi O95497.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000367928 ; ENSP00000356905 ; ENSG00000112299 .
    GeneIDi 8876.
    KEGGi hsa:8876.
    UCSCi uc003qdo.3. human.

    Organism-specific databases

    CTDi 8876.
    GeneCardsi GC06M133001.
    H-InvDB HIX0022602.
    HGNCi HGNC:12705. VNN1.
    MIMi 603570. gene.
    neXtProti NX_O95497.
    PharmGKBi PA37321.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0388.
    HOVERGENi HBG003996.
    InParanoidi O95497.
    KOi K08069.
    OMAi RYYLQIC.
    OrthoDBi EOG7HF1J0.
    PhylomeDBi O95497.
    TreeFami TF323645.

    Miscellaneous databases

    GeneWikii VNN1.
    GenomeRNAii 8876.
    NextBioi 33325.
    PROi O95497.
    SOURCEi Search...

    Gene expression databases

    Bgeei O95497.
    CleanExi HS_VNN1.
    Genevestigatori O95497.

    Family and domain databases

    Gene3Di 3.60.110.10. 1 hit.
    InterProi IPR012101. Biotinidase_euk.
    IPR003010. C-N_Hydrolase.
    [Graphical view ]
    PANTHERi PTHR10609. PTHR10609. 1 hit.
    Pfami PF00795. CN_hydrolase. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF011861. Biotinidase. 1 hit.
    SUPFAMi SSF56317. SSF56317. 1 hit.
    PROSITEi PS50263. CN_HYDROLASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Two human genes related to murine vanin-1 are located on the long arm of human chromosome 6."
      Galland F., Malergue F., Bazin H., Mattei M.-G., Aurrand-Lions M., Theillet C., Naquet P.
      Genomics 53:203-213(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ILE-26.
      Tissue: Liver.
    2. "Human Tiff66."
      Prehn S., Friedrichson T., Henske A., Boehm S., Hartmann E., Kurzchalia T.V.
      Submitted (OCT-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ILE-26.
    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], VARIANT ILE-26.
      Tissue: Umbilical cord blood.
    4. NIEHS SNPs program
      Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-26; THR-63; SER-131; LEU-136; ASN-146; ASP-296; GLU-325; ALA-336 AND THR-373.
    5. "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].
    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], VARIANT SER-131.
    7. "Is pantetheinase the actual identity of mouse and human vanin-1 proteins?"
      Maras B., Barra D., Dupre S., Pitari G.
      FEBS Lett. 461:149-152(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    8. "Vanin genes are clustered (human 6q22-24 and mouse 10A2B1) and encode isoforms of pantetheinase ectoenzymes."
      Martin F., Malergue F., Pitari G., Philippe J.M., Philips S., Chabret C., Granjeaud S., Mattei M.G., Mungall A.J., Naquet P., Galland F.
      Immunogenetics 53:296-306(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    9. Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-38 AND ASN-353.
      Tissue: Bile.
    10. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
      J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-130; ASN-283; ASN-315 AND ASN-353.
      Tissue: Plasma.
    11. "Expression of the vanin gene family in normal and inflamed human skin: induction by proinflammatory cytokines."
      Jansen P.A.M., Kamsteeg M., Rodijk-Olthuis D., van Vlijmen-Willems I.M.J.J., de Jongh G.J., Bergers M., Tjabringa G.S., Zeeuwen P.L.J.M., Schalkwijk J.
      J. Invest. Dermatol. 129:2167-2174(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, INDUCTION BY CYTOKINES.
    12. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-353.
      Tissue: Liver.

    Entry informationi

    Entry nameiVNN1_HUMAN
    AccessioniPrimary (citable) accession number: O95497
    Secondary accession number(s): A8K310
    , Q4JFW6, Q4VAS7, Q4VAS8, Q4VAS9, Q9UF16, Q9UJF4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: September 27, 2005
    Last modified: October 1, 2014
    This is version 126 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 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