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Q9NXB0

- MKS1_HUMAN

UniProt

Q9NXB0 - MKS1_HUMAN

Protein

Meckel syndrome type 1 protein

Gene

MKS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 2 (07 Mar 2006)
      Previous versions | rss
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    Functioni

    Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. branching morphogenesis of an epithelial tube Source: Ensembl
    2. cilium assembly Source: UniProtKB
    3. cilium morphogenesis Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Meckel syndrome type 1 protein
    Gene namesi
    Name:MKS1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:7121. MKS1.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome
    Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme.By similarity

    GO - Cellular componenti

    1. centrosome Source: UniProtKB
    2. ciliary basal body Source: UniProtKB
    3. cytoplasm Source: UniProtKB
    4. membrane Source: Ensembl
    5. TCTN-B9D complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Meckel syndrome 1 (MKS1) [MIM:249000]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti166 – 1661R → W in MKS1; unknown pathological significance. 1 Publication
    VAR_062288
    Bardet-Biedl syndrome 13 (BBS13) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti371 – 3711Missing in BBS13. 1 Publication
    VAR_062290
    Natural varianti492 – 4921C → W in BBS13. 1 Publication
    VAR_062292

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Meckel syndrome, Mental retardation, Obesity

    Organism-specific databases

    MIMi209900. phenotype.
    249000. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    564. Meckel syndrome.
    PharmGKBiPA30840.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 559559Meckel syndrome type 1 proteinPRO_0000225686Add
    BLAST

    Proteomic databases

    MaxQBiQ9NXB0.
    PaxDbiQ9NXB0.
    PRIDEiQ9NXB0.

    PTM databases

    PhosphoSiteiQ9NXB0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NXB0.
    BgeeiQ9NXB0.
    CleanExiHS_MKS1.
    GenevestigatoriQ9NXB0.

    Organism-specific databases

    HPAiHPA021372.
    HPA021812.

    Interactioni

    Subunit structurei

    Part of the tectonic-like complex (also named B9 complex) By similarity. Interacts with TCTN3 and AHI1 By similarity. Interacts with FLNA.By similarity2 Publications

    Protein-protein interaction databases

    BioGridi120249. 3 interactions.
    IntActiQ9NXB0. 2 interactions.
    MINTiMINT-1415211.
    STRINGi9606.ENSP00000376827.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NXB0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini311 – 439129B9PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 B9 domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG306467.
    HOGENOMiHOG000251592.
    HOVERGENiHBG079759.
    InParanoidiQ9NXB0.
    OMAiCATKSLG.
    OrthoDBiEOG73FQMN.
    PhylomeDBiQ9NXB0.
    TreeFamiTF323812.

    Family and domain databases

    InterProiIPR010796. B9_dom.
    [Graphical view]
    PfamiPF07162. B9-C2. 1 hit.
    [Graphical view]
    PROSITEiPS51381. B9. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NXB0-1) [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

    MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD    50
    LIDLATFRPQ PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ 100
    SPLDYQYRQE ILKLENSGGK KNRRIFTYTD SDRYTNLEEH CQRMTTAASE 150
    VPSFLVERMA NVRRRRQDRR GMEGGILKSR IVTWEPSEEF VRNNHVINTP 200
    LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP DFTGLKGPYR 250
    IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG 300
    TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ 350
    LSGVTQTCTT KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE 400
    VLSLDFWQRY RVEGYGAVVL PATPGSHTLT VSTWRPVELG TVAELRRFFI 450
    GGSLELEDLS YVRIPGSFKG ERLSRFGLRT ETTGTVTFRL HCLQQSRAFM 500
    ESSSLQKRMR SVLDRLEGFS QQSSIHNVLE AFRRARRRMQ EARESLPQDL 550
    VSPSGTLVS 559
    Length:559
    Mass (Da):64,528
    Last modified:March 7, 2006 - v2
    Checksum:i3E4EBFDAFA8FB39D
    GO
    Isoform 2 (identifier: Q9NXB0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         471-559: ERLSRFGLRT...LVSPSGTLVS → LSSSKTKEGR...RLRYELFLSK

    Note: No experimental confirmation available.

    Show »
    Length:520
    Mass (Da):59,869
    Checksum:i505F4279EB7A9E35
    GO
    Isoform 3 (identifier: Q9NXB0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-26: MAETVWSTDTGEAVYRSRDPVRNLRL → MAVPVSSFAQRTRSRF

    Note: No experimental confirmation available.

    Show »
    Length:549
    Mass (Da):63,344
    Checksum:i6760801F0209F8A5
    GO

    Sequence cautioni

    The sequence AAH10061.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA91105.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391L → F.
    Corresponds to variant rs11653070 [ dbSNP | Ensembl ].
    VAR_060161
    Natural varianti123 – 1231R → Q.1 Publication
    VAR_062287
    Natural varianti166 – 1661R → W in MKS1; unknown pathological significance. 1 Publication
    VAR_062288
    Natural varianti286 – 2861D → G.1 Publication
    Corresponds to variant rs151023718 [ dbSNP | Ensembl ].
    VAR_062289
    Natural varianti371 – 3711Missing in BBS13. 1 Publication
    VAR_062290
    Natural varianti450 – 4501I → T.1 Publication
    VAR_062291
    Natural varianti492 – 4921C → W in BBS13. 1 Publication
    VAR_062292

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2626MAETV…RNLRL → MAVPVSSFAQRTRSRF in isoform 3. 1 PublicationVSP_046063Add
    BLAST
    Alternative sequencei471 – 55989ERLSR…GTLVS → LSSSKTKEGRKVDGERVLNP QPVSLSLFPGKPHSTAWGLL RLRYELFLSK in isoform 2. 1 PublicationVSP_017414Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ185029 mRNA. Translation: AAZ94714.1.
    AK000352 mRNA. Translation: BAA91105.1. Different initiation.
    AK310815 mRNA. No translation available.
    AC005962 Genomic DNA. No translation available.
    BC010061 mRNA. Translation: AAH10061.1. Different initiation.
    CR457229 mRNA. Translation: CAG33510.1.
    CCDSiCCDS11603.2. [Q9NXB0-1]
    CCDS54148.1. [Q9NXB0-3]
    RefSeqiNP_001159399.1. NM_001165927.1. [Q9NXB0-3]
    NP_060247.2. NM_017777.3. [Q9NXB0-1]
    UniGeneiHs.408843.

    Genome annotation databases

    EnsembliENST00000393119; ENSP00000376827; ENSG00000011143. [Q9NXB0-1]
    ENST00000537529; ENSP00000442096; ENSG00000011143. [Q9NXB0-3]
    GeneIDi54903.
    KEGGihsa:54903.
    UCSCiuc002ivr.2. human. [Q9NXB0-1]

    Polymorphism databases

    DMDMi92087008.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ185029 mRNA. Translation: AAZ94714.1 .
    AK000352 mRNA. Translation: BAA91105.1 . Different initiation.
    AK310815 mRNA. No translation available.
    AC005962 Genomic DNA. No translation available.
    BC010061 mRNA. Translation: AAH10061.1 . Different initiation.
    CR457229 mRNA. Translation: CAG33510.1 .
    CCDSi CCDS11603.2. [Q9NXB0-1 ]
    CCDS54148.1. [Q9NXB0-3 ]
    RefSeqi NP_001159399.1. NM_001165927.1. [Q9NXB0-3 ]
    NP_060247.2. NM_017777.3. [Q9NXB0-1 ]
    UniGenei Hs.408843.

    3D structure databases

    ProteinModelPortali Q9NXB0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120249. 3 interactions.
    IntActi Q9NXB0. 2 interactions.
    MINTi MINT-1415211.
    STRINGi 9606.ENSP00000376827.

    PTM databases

    PhosphoSitei Q9NXB0.

    Polymorphism databases

    DMDMi 92087008.

    Proteomic databases

    MaxQBi Q9NXB0.
    PaxDbi Q9NXB0.
    PRIDEi Q9NXB0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000393119 ; ENSP00000376827 ; ENSG00000011143 . [Q9NXB0-1 ]
    ENST00000537529 ; ENSP00000442096 ; ENSG00000011143 . [Q9NXB0-3 ]
    GeneIDi 54903.
    KEGGi hsa:54903.
    UCSCi uc002ivr.2. human. [Q9NXB0-1 ]

    Organism-specific databases

    CTDi 54903.
    GeneCardsi GC17M056282.
    GeneReviewsi MKS1.
    HGNCi HGNC:7121. MKS1.
    HPAi HPA021372.
    HPA021812.
    MIMi 209900. phenotype.
    249000. phenotype.
    609883. gene.
    neXtProti NX_Q9NXB0.
    Orphaneti 110. Bardet-Biedl syndrome.
    564. Meckel syndrome.
    PharmGKBi PA30840.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG306467.
    HOGENOMi HOG000251592.
    HOVERGENi HBG079759.
    InParanoidi Q9NXB0.
    OMAi CATKSLG.
    OrthoDBi EOG73FQMN.
    PhylomeDBi Q9NXB0.
    TreeFami TF323812.

    Miscellaneous databases

    GeneWikii MKS1.
    GenomeRNAii 54903.
    NextBioi 57936.
    PROi Q9NXB0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NXB0.
    Bgeei Q9NXB0.
    CleanExi HS_MKS1.
    Genevestigatori Q9NXB0.

    Family and domain databases

    InterProi IPR010796. B9_dom.
    [Graphical view ]
    Pfami PF07162. B9-C2. 1 hit.
    [Graphical view ]
    PROSITEi PS51381. B9. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome."
      Kyttaelae M., Tallila J., Salonen R., Kopra O., Kohlschmidt N., Paavola-Sakki P., Peltonen L., Kestilae M.
      Nat. Genet. 38:155-157(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN MKS1.
    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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 86-559 (ISOFORM 1).
      Tissue: Hepatoma and Trachea.
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [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 2).
      Tissue: Ovary.
    5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 144-559 (ISOFORM 1).
    6. "The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation."
      Dawe H.R., Smith U.M., Cullinane A.R., Gerrelli D., Cox P., Badano J.L., Blair-Reid S., Sriram N., Katsanis N., Attie-Bitach T., Afford S.C., Copp A.J., Kelly D.A., Gull K., Johnson C.A.
      Hum. Mol. Genet. 16:173-186(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, FUNCTION, INTERACTION WITH TMEM67.
    7. "Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3."
      Tammachote R., Hommerding C.J., Sinders R.M., Miller C.A., Czarnecki P.G., Leightner A.C., Salisbury J.L., Ward C.J., Torres V.E., Gattone V.H. II, Harris P.C.
      Hum. Mol. Genet. 18:3311-3323(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    8. "Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins."
      Bialas N.J., Inglis P.N., Li C., Robinson J.F., Parker J.D., Healey M.P., Davis E.E., Inglis C.D., Toivonen T., Cottell D.C., Blacque O.E., Quarmby L.M., Katsanis N., Leroux M.R.
      J. Cell Sci. 122:611-624(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    9. Cited for: INTERACTION WITH FLNA.
    10. "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome."
      Leitch C.C., Zaghloul N.A., Davis E.E., Stoetzel C., Diaz-Font A., Rix S., Alfadhel M., Lewis R.A., Eyaid W., Banin E., Dollfus H., Beales P.L., Badano J.L., Katsanis N.
      Nat. Genet. 40:443-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BBS13 PHE-371 DEL AND TRP-492, VARIANTS GLN-123; GLY-286 AND THR-450.
    11. "Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?"
      Tallila J., Salonen R., Kohlschmidt N., Peltonen L., Kestilae M.
      Hum. Mutat. 30:E813-E830(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MKS1 TRP-166.

    Entry informationi

    Entry nameiMKS1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NXB0
    Secondary accession number(s): B7WNX4
    , F5H885, Q284T0, Q96G13
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 7, 2006
    Last sequence update: March 7, 2006
    Last modified: October 1, 2014
    This is version 92 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 17
      Human chromosome 17: 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