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Q4G0X9

- CCD40_HUMAN

UniProt

Q4G0X9 - CCD40_HUMAN

Protein

Coiled-coil domain-containing protein 40

Gene

CCDC40

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 83 (01 Oct 2014)
      Sequence version 2 (02 Oct 2007)
      Previous versions | rss
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    Functioni

    Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39.1 Publication

    GO - Biological processi

    1. axonemal dynein complex assembly Source: UniProtKB
    2. determination of digestive tract left/right asymmetry Source: BHF-UCL
    3. determination of liver left/right asymmetry Source: BHF-UCL
    4. determination of pancreatic left/right asymmetry Source: BHF-UCL
    5. epithelial cilium movement Source: BHF-UCL
    6. epithelial cilium movement involved in determination of left/right asymmetry Source: UniProtKB
    7. heart looping Source: BHF-UCL
    8. lung development Source: BHF-UCL
    9. regulation of cilium beat frequency Source: BHF-UCL

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 40
    Gene namesi
    Name:CCDC40
    Synonyms:KIAA1640
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:26090. CCDC40.

    Subcellular locationi

    Cytoplasm By similarity. Cell projectioncilium By similarity
    Note: Localizes to cytoplasm and motile cilium.By similarity

    GO - Cellular componenti

    1. cilium Source: UniProtKB
    2. cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 15 (CILD15) [MIM:613808]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi613808. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA142672195.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11421142Coiled-coil domain-containing protein 40PRO_0000305250Add
    BLAST

    Proteomic databases

    MaxQBiQ4G0X9.
    PaxDbiQ4G0X9.
    PRIDEiQ4G0X9.

    PTM databases

    PhosphoSiteiQ4G0X9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ4G0X9.
    BgeeiQ4G0X9.
    CleanExiHS_CCDC40.
    GenevestigatoriQ4G0X9.

    Organism-specific databases

    HPAiHPA022974.

    Interactioni

    Protein-protein interaction databases

    BioGridi120365. 1 interaction.
    STRINGi9606.ENSP00000380679.

    Structurei

    3D structure databases

    ProteinModelPortaliQ4G0X9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili293 – 31927Sequence AnalysisAdd
    BLAST
    Coiled coili349 – 470122Sequence AnalysisAdd
    BLAST
    Coiled coili526 – 627102Sequence AnalysisAdd
    BLAST
    Coiled coili684 – 950267Sequence AnalysisAdd
    BLAST
    Coiled coili1005 – 105450Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CCDC40 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG138528.
    HOVERGENiHBG095564.
    InParanoidiQ4G0X9.
    OMAiTTQAEGQ.
    PhylomeDBiQ4G0X9.
    TreeFamiTF325559.

    Family and domain databases

    InterProiIPR013956. E3_ubiquit_lig_BRE1.
    [Graphical view]
    PfamiPF08647. BRE1. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q4G0X9-1) [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

    MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST     50
    EHPEEVTTQA EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET 100
    SSPEGQISAA DTTYPYFSPP QELPGEEAYD SVSGEAGLQG FQQEATGPPE 150
    SRERRVTSPE PSHGVLGPSE QMGQVTSGPA VGRLTGSTEE PQGQVLPMGV 200
    QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD LPVFQDQIQQ 250
    PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN 300
    RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD 350
    RHAMASSERR QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH 400
    LFYMQNIDQD MRDDIRVMTQ VVKKAETERI RAEIEKKKQD LYVDQLTTRA 450
    QQLEEDIALF EAQYLAQAED TRILRKAVSE ACTEIDAISV EKRRIMQQWA 500
    SSLVGMKHRD EAHRAVLEAL RGCQHQAKST DGEIEAYKKS IMKEEEKNEK 550
    LASILNRTET EATLLQKLTT QCLTKQVALQ SQFNTYRLTL QDTEDALSQD 600
    QLEQMILTEE LQAIRQAIQG ELELRRKTDA AIREKLQEHM TSNKTTKYFN 650
    QLILRLQKEK TNMMTHLSKI NGDIAQTTLD ITHTSSRLDA HQKTLVELDQ 700
    DVKKVNELIT NSQSEISRRT ILIERKQGLI NFLNKQLERM VSELGGEEVG 750
    PLELEIKRLS KLIDEHDGKA VQAQVTWLRL QQEMVKVTQE QEEQLASLDA 800
    SKKELHIMEQ KKLRVESKIE QEKKEQKEIE HHMKDLDNDL KKLNMLMNKN 850
    RCSSEELEQN NRVTENEFVR SLKASERETI KMQDKLNQLS EEKATLLNQL 900
    VEAEHQIMLW EKKIQLAKEM RSSVDSEIGQ TEIRAMKGEI HRMKVRLGQL 950
    LKQQEKMIRA MELAVARRET VTTQAEGQRK MDRKALTRTD FHHKQLELRR 1000
    KIRDVRKATD ECTKTVLELE ETQRNVSSSL LEKQEKLSVI QADFDTLEAD 1050
    LTRLGALKRQ NLSEIVALQT RLKHLQAVKE GRYVFLFRSK QSLVLERQRL 1100
    DKRLALIATI LDRVRDEYPQ FQEALHKVSQ MIANKLESPG PS 1142
    Length:1,142
    Mass (Da):130,113
    Last modified:October 2, 2007 - v2
    Checksum:iB18A5808B0BEC212
    GO
    Isoform 2 (identifier: Q4G0X9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         945-945: V → KYCRTTRDAR...HEHRTHTARA
         946-1142: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,031
    Mass (Da):117,053
    Checksum:i35C3D9DD4E101603
    GO
    Isoform 3 (identifier: Q4G0X9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-217: Missing.
         218-225: EEFVSQEP → MVSLSLPP

    Show »
    Length:925
    Mass (Da):107,153
    Checksum:iA54BBA3F9B469BDB
    GO
    Isoform 4 (identifier: Q4G0X9-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         521-579: RGCQHQAKST...TQCLTKQVAL → SVSLERFPSQ...AAVDNRIREC
         580-1142: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:579
    Mass (Da):64,007
    Checksum:i0F0FD772989FB7C8
    GO
    Isoform 5 (identifier: Q4G0X9-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         440-478: DLYVDQLTTR...EDTRILRKAV → GVGDTGAAFI...VVARVSPAEL
         479-1142: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:478
    Mass (Da):52,263
    Checksum:i194B85FFFF78D73C
    GO

    Sequence cautioni

    The sequence BAB13466.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti117 – 1171F → L in BAA91365. (PubMed:14702039)Curated
    Sequence conflicti362 – 3621K → R in AAH35251. 1 PublicationCurated
    Sequence conflicti405 – 4051Q → R in BAA91365. (PubMed:14702039)Curated
    Sequence conflicti553 – 5531S → G in AAH35251. 1 PublicationCurated
    Sequence conflicti816 – 8161E → G in AAH35251. 1 PublicationCurated
    Isoform 3 (identifier: Q4G0X9-3)
    Sequence conflicti8 – 81P → A in BAB13466. (PubMed:10997877)Curated
    Isoform 4 (identifier: Q4G0X9-4)
    Sequence conflicti570 – 5701A → T in BAA91365. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81A → P.
    Corresponds to variant rs2289530 [ dbSNP | Ensembl ].
    VAR_035193

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 217217Missing in isoform 3. 1 PublicationVSP_028302Add
    BLAST
    Alternative sequencei218 – 2258EEFVSQEP → MVSLSLPP in isoform 3. 1 PublicationVSP_028303
    Alternative sequencei440 – 47839DLYVD…LRKAV → GVGDTGAAFIPKTTQGDQVS GRGKKKPGTVVARVSPAEL in isoform 5. 1 PublicationVSP_028304Add
    BLAST
    Alternative sequencei479 – 1142664Missing in isoform 5. 1 PublicationVSP_028305Add
    BLAST
    Alternative sequencei521 – 57959RGCQH…KQVAL → SVSLERFPSQNINTARSRLS TTWHSAGILLRGSFLPGASR AFASVCYGGAAVDNRIREC in isoform 4. 1 PublicationVSP_028306Add
    BLAST
    Alternative sequencei580 – 1142563Missing in isoform 4. 1 PublicationVSP_028307Add
    BLAST
    Alternative sequencei945 – 9451V → KYCRTTRDARRHVHEQHGTR AGTCTNNTGRAQARARTTRD ARRHVHEQHGTRAGTCTNNT GRAQARARTTRDARRHVHEH RTHTARA in isoform 2. 1 PublicationVSP_028308
    Alternative sequencei946 – 1142197Missing in isoform 2. 1 PublicationVSP_028309Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB046860 mRNA. Translation: BAB13466.1. Different initiation.
    AK000760 mRNA. Translation: BAA91365.1.
    AC087741 Genomic DNA. No translation available.
    AC116025 Genomic DNA. No translation available.
    CH471099 Genomic DNA. Translation: EAW89578.1.
    CH471099 Genomic DNA. Translation: EAW89579.1.
    BC035251 mRNA. Translation: AAH35251.1.
    BC058288 mRNA. Translation: AAH58288.1.
    CCDSiCCDS42395.1. [Q4G0X9-1]
    RefSeqiNP_001230271.1. NM_001243342.1.
    NP_060420.2. NM_017950.3. [Q4G0X9-1]
    XP_005257549.1. XM_005257492.2. [Q4G0X9-4]
    UniGeneiHs.202542.

    Genome annotation databases

    EnsembliENST00000269318; ENSP00000269318; ENSG00000141519. [Q4G0X9-4]
    ENST00000374876; ENSP00000364010; ENSG00000141519. [Q4G0X9-5]
    ENST00000397545; ENSP00000380679; ENSG00000141519. [Q4G0X9-1]
    GeneIDi55036.
    KEGGihsa:55036.
    UCSCiuc002jxm.4. human. [Q4G0X9-3]
    uc010dht.3. human. [Q4G0X9-1]
    uc010wub.2. human. [Q4G0X9-5]

    Polymorphism databases

    DMDMi158706471.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB046860 mRNA. Translation: BAB13466.1 . Different initiation.
    AK000760 mRNA. Translation: BAA91365.1 .
    AC087741 Genomic DNA. No translation available.
    AC116025 Genomic DNA. No translation available.
    CH471099 Genomic DNA. Translation: EAW89578.1 .
    CH471099 Genomic DNA. Translation: EAW89579.1 .
    BC035251 mRNA. Translation: AAH35251.1 .
    BC058288 mRNA. Translation: AAH58288.1 .
    CCDSi CCDS42395.1. [Q4G0X9-1 ]
    RefSeqi NP_001230271.1. NM_001243342.1.
    NP_060420.2. NM_017950.3. [Q4G0X9-1 ]
    XP_005257549.1. XM_005257492.2. [Q4G0X9-4 ]
    UniGenei Hs.202542.

    3D structure databases

    ProteinModelPortali Q4G0X9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120365. 1 interaction.
    STRINGi 9606.ENSP00000380679.

    PTM databases

    PhosphoSitei Q4G0X9.

    Polymorphism databases

    DMDMi 158706471.

    Proteomic databases

    MaxQBi Q4G0X9.
    PaxDbi Q4G0X9.
    PRIDEi Q4G0X9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000269318 ; ENSP00000269318 ; ENSG00000141519 . [Q4G0X9-4 ]
    ENST00000374876 ; ENSP00000364010 ; ENSG00000141519 . [Q4G0X9-5 ]
    ENST00000397545 ; ENSP00000380679 ; ENSG00000141519 . [Q4G0X9-1 ]
    GeneIDi 55036.
    KEGGi hsa:55036.
    UCSCi uc002jxm.4. human. [Q4G0X9-3 ]
    uc010dht.3. human. [Q4G0X9-1 ]
    uc010wub.2. human. [Q4G0X9-5 ]

    Organism-specific databases

    CTDi 55036.
    GeneCardsi GC17P078010.
    GeneReviewsi CCDC40.
    H-InvDB HIX0014236.
    HGNCi HGNC:26090. CCDC40.
    HPAi HPA022974.
    MIMi 613799. gene.
    613808. phenotype.
    neXtProti NX_Q4G0X9.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA142672195.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG138528.
    HOVERGENi HBG095564.
    InParanoidi Q4G0X9.
    OMAi TTQAEGQ.
    PhylomeDBi Q4G0X9.
    TreeFami TF325559.

    Miscellaneous databases

    GenomeRNAii 55036.
    NextBioi 58467.
    PROi Q4G0X9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q4G0X9.
    Bgeei Q4G0X9.
    CleanExi HS_CCDC40.
    Genevestigatori Q4G0X9.

    Family and domain databases

    InterProi IPR013956. E3_ubiquit_lig_BRE1.
    [Graphical view ]
    Pfami PF08647. BRE1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
      DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Brain.
    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 4).
      Tissue: Hepatoma.
    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. 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] (ISOFORMS 2 AND 5).
      Tissue: Prostate and Testis.
    6. Cited for: FUNCTION, INVOLVEMENT IN CILD15.

    Entry informationi

    Entry nameiCCD40_HUMAN
    AccessioniPrimary (citable) accession number: Q4G0X9
    Secondary accession number(s): A8MTD2
    , C9JTI9, C9JTJ0, C9JXW1, Q6PE47, Q9HCD2, Q9NWL5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 2, 2007
    Last sequence update: October 2, 2007
    Last modified: October 1, 2014
    This is version 83 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