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Q13099

- IFT88_HUMAN

UniProt

Q13099 - IFT88_HUMAN

Protein

Intraflagellar transport protein 88 homolog

Gene

IFT88

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 2 (23 Sep 2008)
      Previous versions | rss
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    Functioni

    Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment By similarity.By similarity

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. cardiac septum morphogenesis Source: Ensembl
    3. cilium morphogenesis Source: UniProtKB
    4. determination of left/right symmetry Source: Ensembl
    5. embryonic digit morphogenesis Source: Ensembl
    6. embryonic organ development Source: Ensembl
    7. epithelial cell morphogenesis Source: Ensembl
    8. eye development Source: Ensembl
    9. forebrain morphogenesis Source: Ensembl
    10. in utero embryonic development Source: Ensembl
    11. lung vasculature development Source: Ensembl
    12. palate development Source: Ensembl
    13. positive regulation of proteolysis Source: Ensembl
    14. protein localization Source: Ensembl
    15. protein processing Source: Ensembl
    16. regulation of autophagic vacuole assembly Source: UniProtKB
    17. regulation of cilium assembly Source: UniProtKB
    18. regulation of odontogenesis of dentin-containing tooth Source: Ensembl
    19. smoothened signaling pathway Source: Ensembl
    20. spinal cord dorsal/ventral patterning Source: Ensembl
    21. telencephalon development Source: Ensembl

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Intraflagellar transport protein 88 homolog
    Alternative name(s):
    Recessive polycystic kidney disease protein Tg737 homolog
    Tetratricopeptide repeat protein 10
    Short name:
    TPR repeat protein 10
    Gene namesi
    Name:IFT88
    Synonyms:TG737, TTC10
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:20606. IFT88.

    Subcellular locationi

    GO - Cellular componenti

    1. apical part of cell Source: Ensembl
    2. axoneme Source: Ensembl
    3. centriole Source: UniProtKB
    4. ciliary basal body Source: UniProtKB
    5. cilium Source: UniProtKB
    6. intraciliary transport particle B Source: BHF-UCL
    7. motile cilium Source: BHF-UCL
    8. motile primary cilium Source: Ensembl
    9. photoreceptor connecting cilium Source: Ensembl

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti474. Jeune syndrome.
    564. Meckel syndrome.
    PharmGKBiPA134991804.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 833833Intraflagellar transport protein 88 homologPRO_0000106391Add
    BLAST

    Proteomic databases

    MaxQBiQ13099.
    PaxDbiQ13099.
    PRIDEiQ13099.

    PTM databases

    PhosphoSiteiQ13099.

    Expressioni

    Tissue specificityi

    Expressed in the heart, brain, liver, lung, kidney, skeletal muscle and pancreas.1 Publication

    Gene expression databases

    ArrayExpressiQ13099.
    BgeeiQ13099.
    CleanExiHS_IFT88.
    GenevestigatoriQ13099.

    Organism-specific databases

    HPAiHPA040731.

    Interactioni

    Subunit structurei

    Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT20, IFT22, HSPB11, IFT27, IFT46, IFT52, TRAF3IP1, IFT57, IFT74, IFT80, IFT81, IFT88 AND IFT172. Interacts with C2CD3 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi113771. 4 interactions.
    IntActiQ13099. 3 interactions.
    STRINGi9606.ENSP00000323580.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13099.
    SMRiQ13099. Positions 210-341, 429-695.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati206 – 23934TPR 1Add
    BLAST
    Repeati242 – 27534TPR 2Add
    BLAST
    Repeati281 – 31434TPR 3Add
    BLAST
    Repeati316 – 34732TPR 4Add
    BLAST
    Repeati424 – 45734TPR 5Add
    BLAST
    Repeati459 – 49234TPR 6Add
    BLAST
    Repeati493 – 52634TPR 7Add
    BLAST
    Repeati527 – 56034TPR 8Add
    BLAST
    Repeati561 – 59434TPR 9Add
    BLAST
    Repeati595 – 62834TPR 10Add
    BLAST
    Repeati629 – 66234TPR 11Add
    BLAST
    Repeati663 – 69634TPR 12Add
    BLAST

    Sequence similaritiesi

    Contains 12 TPR repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, TPR repeat

    Phylogenomic databases

    eggNOGiCOG0457.
    HOGENOMiHOG000258203.
    HOVERGENiHBG059328.
    InParanoidiQ13099.
    KOiK16474.
    OMAiLILCYYA.
    OrthoDBiEOG7N37D5.
    PhylomeDBiQ13099.
    TreeFamiTF313218.

    Family and domain databases

    Gene3Di1.25.40.10. 2 hits.
    InterProiIPR006597. Sel1-like.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    [Graphical view]
    PfamiPF00515. TPR_1. 4 hits.
    PF07719. TPR_2. 1 hit.
    PF13174. TPR_6. 1 hit.
    PF13181. TPR_8. 1 hit.
    [Graphical view]
    SMARTiSM00671. SEL1. 4 hits.
    SM00028. TPR. 7 hits.
    [Graphical view]
    PROSITEiPS50005. TPR. 9 hits.
    PS50293. TPR_REGION. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q13099-1) [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

    MKFTNTKVQM MQNVHLAPET DEDDLYSGYN DYNPIYDIEE LENDAAFQQA    50
    VRTSHGRRPP ITAKISSTAV TRPIATGYGS KTSLASSIGR PMTGAIQDGV 100
    TRPMTAVRAA GFTKAALRGS AFDPLSQSRG PASPLEAKKK DSPEEKIKQL 150
    EKEVNELVEE SCIANSCGDL KLALEKAKDA GRKERVLVRQ REQVTTPENI 200
    NLDLTYSVLF NLASQYSVNE MYAEALNTYQ VIVKNKMFSN AGILKMNMGN 250
    IYLKQRNYSK AIKFYRMALD QVPSVNKQMR IKIMQNIGVT FIQAGQYSDA 300
    INSYEHIMSM APNLKAGYNL TICYFAIGDR EKMKKAFQKL ITVPLEIDED 350
    KYISPSDDPH TNLVTEAIKN DHLRQMERER KAMAEKYIMT SAKLIAPVIE 400
    TSFAAGYDWC VEVVKASQYV ELANDLEINK AVTYLRQKDY NQAVEILKVL 450
    EKKDSRVKSA AATNLSALYY MGKDFAQASS YADIAVNSDR YNPAALTNKG 500
    NTVFANGDYE KAAEFYKEAL RNDSSCTEAL YNIGLTYEKL NRLDEALDCF 550
    LKLHAILRNS AEVLYQIANI YELMENPSQA IEWLMQVVSV IPTDPQVLSK 600
    LGELYDREGD KSQAFQYYYE SYRYFPCNIE VIEWLGAYYI DTQFWEKAIQ 650
    YFERASLIQP TQVKWQLMVA SCFRRSGNYQ KALDTYKDTH RKFPENVECL 700
    RFLVRLCTDL GLKDAQEYAR KLKRLEKMKE IREQRIKSGR DGSGGSRGKR 750
    EGSASGDSGQ NYSASSKGER LSARLRALPG TNEPYESSSN KEIDASYVDP 800
    LGPQIERPKT AAKKRIDEDD FADEELGDDL LPE 833
    Length:833
    Mass (Da):94,270
    Last modified:September 23, 2008 - v2
    Checksum:i383887C9D79AF0DA
    GO
    Isoform 2 (identifier: Q13099-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-9: Missing.

    Show »
    Length:824
    Mass (Da):93,192
    Checksum:i12E30169CFC5476B
    GO
    Isoform 3 (identifier: Q13099-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         61-79: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:814
    Mass (Da):92,381
    Checksum:iB5364A6022DC66F3
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti210 – 2101F → S in AAA86720. (PubMed:7633404)Curated
    Sequence conflicti335 – 3351K → E in AAH30776. (PubMed:15489334)Curated
    Sequence conflicti388 – 3881I → V in AAH30776. (PubMed:15489334)Curated
    Sequence conflicti389 – 3891M → T in AAA86720. (PubMed:7633404)Curated
    Sequence conflicti407 – 4071Y → C in AAA86720. (PubMed:7633404)Curated
    Sequence conflicti608 – 6081E → G in AAH30776. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti383 – 3831M → I.1 Publication
    Corresponds to variant rs2442455 [ dbSNP | Ensembl ].
    VAR_046464
    Natural varianti455 – 4551S → N.1 Publication
    Corresponds to variant rs9509307 [ dbSNP | Ensembl ].
    VAR_046465
    Natural varianti671 – 6711S → G.
    Corresponds to variant rs9552254 [ dbSNP | Ensembl ].
    VAR_046466

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 99Missing in isoform 2. 1 PublicationVSP_035429
    Alternative sequencei61 – 7919Missing in isoform 3. 1 PublicationVSP_040620Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U20362 mRNA. Translation: AAA86720.1.
    AK300769 mRNA. Translation: BAG62434.1.
    AL161772, AL590096 Genomic DNA. Translation: CAM13405.1.
    AL590096, AL161772 Genomic DNA. Translation: CAM20430.1.
    AL161772, AL590096 Genomic DNA. Translation: CAH70874.2.
    AL590096, AL161772 Genomic DNA. Translation: CAI14390.2.
    CH471075 Genomic DNA. Translation: EAX08272.1.
    BC030776 mRNA. Translation: AAH30776.2.
    CCDSiCCDS31944.1. [Q13099-1]
    CCDS31945.1. [Q13099-2]
    RefSeqiNP_006522.2. NM_006531.3. [Q13099-2]
    NP_783195.2. NM_175605.3. [Q13099-1]
    XP_005266610.1. XM_005266553.1. [Q13099-1]
    XP_006719932.1. XM_006719869.1. [Q13099-2]
    XP_006719933.1. XM_006719870.1. [Q13099-2]
    UniGeneiHs.187376.

    Genome annotation databases

    EnsembliENST00000319980; ENSP00000323580; ENSG00000032742. [Q13099-1]
    ENST00000351808; ENSP00000261632; ENSG00000032742. [Q13099-2]
    GeneIDi8100.
    KEGGihsa:8100.
    UCSCiuc001unh.3. human. [Q13099-1]

    Polymorphism databases

    DMDMi206729873.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U20362 mRNA. Translation: AAA86720.1 .
    AK300769 mRNA. Translation: BAG62434.1 .
    AL161772 , AL590096 Genomic DNA. Translation: CAM13405.1 .
    AL590096 , AL161772 Genomic DNA. Translation: CAM20430.1 .
    AL161772 , AL590096 Genomic DNA. Translation: CAH70874.2 .
    AL590096 , AL161772 Genomic DNA. Translation: CAI14390.2 .
    CH471075 Genomic DNA. Translation: EAX08272.1 .
    BC030776 mRNA. Translation: AAH30776.2 .
    CCDSi CCDS31944.1. [Q13099-1 ]
    CCDS31945.1. [Q13099-2 ]
    RefSeqi NP_006522.2. NM_006531.3. [Q13099-2 ]
    NP_783195.2. NM_175605.3. [Q13099-1 ]
    XP_005266610.1. XM_005266553.1. [Q13099-1 ]
    XP_006719932.1. XM_006719869.1. [Q13099-2 ]
    XP_006719933.1. XM_006719870.1. [Q13099-2 ]
    UniGenei Hs.187376.

    3D structure databases

    ProteinModelPortali Q13099.
    SMRi Q13099. Positions 210-341, 429-695.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113771. 4 interactions.
    IntActi Q13099. 3 interactions.
    STRINGi 9606.ENSP00000323580.

    PTM databases

    PhosphoSitei Q13099.

    Polymorphism databases

    DMDMi 206729873.

    Proteomic databases

    MaxQBi Q13099.
    PaxDbi Q13099.
    PRIDEi Q13099.

    Protocols and materials databases

    DNASUi 8100.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000319980 ; ENSP00000323580 ; ENSG00000032742 . [Q13099-1 ]
    ENST00000351808 ; ENSP00000261632 ; ENSG00000032742 . [Q13099-2 ]
    GeneIDi 8100.
    KEGGi hsa:8100.
    UCSCi uc001unh.3. human. [Q13099-1 ]

    Organism-specific databases

    CTDi 8100.
    GeneCardsi GC13P021141.
    HGNCi HGNC:20606. IFT88.
    HPAi HPA040731.
    MIMi 600595. gene.
    neXtProti NX_Q13099.
    Orphaneti 474. Jeune syndrome.
    564. Meckel syndrome.
    PharmGKBi PA134991804.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0457.
    HOGENOMi HOG000258203.
    HOVERGENi HBG059328.
    InParanoidi Q13099.
    KOi K16474.
    OMAi LILCYYA.
    OrthoDBi EOG7N37D5.
    PhylomeDBi Q13099.
    TreeFami TF313218.

    Miscellaneous databases

    GeneWikii IFT88.
    GenomeRNAii 8100.
    NextBioi 30744.
    PROi Q13099.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13099.
    Bgeei Q13099.
    CleanExi HS_IFT88.
    Genevestigatori Q13099.

    Family and domain databases

    Gene3Di 1.25.40.10. 2 hits.
    InterProi IPR006597. Sel1-like.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    [Graphical view ]
    Pfami PF00515. TPR_1. 4 hits.
    PF07719. TPR_2. 1 hit.
    PF13174. TPR_6. 1 hit.
    PF13181. TPR_8. 1 hit.
    [Graphical view ]
    SMARTi SM00671. SEL1. 4 hits.
    SM00028. TPR. 7 hits.
    [Graphical view ]
    PROSITEi PS50005. TPR. 9 hits.
    PS50293. TPR_REGION. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene."
      Schrick J.J., Onuchic L.F., Reeders S.T., Korenberg J., Chen X.-N., Moyer J.H., Wilkinson J.E., Woychik R.P.
      Hum. Mol. Genet. 4:559-567(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANT ASN-455.
      Tissue: Liver.
    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).
      Tissue: Neuroepithelioma.
    3. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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), VARIANT ILE-383.
      Tissue: Testis.

    Entry informationi

    Entry nameiIFT88_HUMAN
    AccessioniPrimary (citable) accession number: Q13099
    Secondary accession number(s): A2A491
    , B4DUS2, Q5SZJ6, Q8N719
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: September 23, 2008
    Last modified: October 1, 2014
    This is version 129 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 13
      Human chromosome 13: 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