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Q9UJT1

- TBD_HUMAN

UniProt

Q9UJT1 - TBD_HUMAN

Protein

Tubulin delta chain

Gene

TUBD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    In the elongating spermatid it is associated with the manchette, a specialized microtubule system present during reshaping of the sperm head.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi143 – 1497GTPSequence Analysis

    GO - Molecular functioni

    1. GTPase activity Source: InterPro
    2. GTP binding Source: UniProtKB-KW
    3. structural constituent of cytoskeleton Source: InterPro

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. microtubule-based process Source: InterPro
    3. multicellular organismal development Source: UniProtKB-KW
    4. protein polymerization Source: InterPro
    5. spermatogenesis Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Spermatogenesis

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Tubulin delta chain
    Alternative name(s):
    Delta-tubulin
    Gene namesi
    Name:TUBD1
    Synonyms:TUBD
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:16811. TUBD1.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Cytoplasm. Nucleus
    Note: Associated with centrioles. Both cytoplasmic and nuclear.

    GO - Cellular componenti

    1. centriole Source: ProtInc
    2. cytoplasm Source: HPA
    3. microtubule Source: UniProtKB-KW
    4. nucleus Source: HPA

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Microtubule, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134909953.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 453453Tubulin delta chainPRO_0000048484Add
    BLAST

    Proteomic databases

    MaxQBiQ9UJT1.
    PaxDbiQ9UJT1.
    PRIDEiQ9UJT1.

    PTM databases

    PhosphoSiteiQ9UJT1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UJT1.
    BgeeiQ9UJT1.
    CleanExiHS_TUBD1.
    GenevestigatoriQ9UJT1.

    Organism-specific databases

    HPAiCAB004609.
    HPA023980.
    HPA027090.

    Interactioni

    Protein-protein interaction databases

    BioGridi119352. 4 interactions.
    STRINGi9606.ENSP00000320797.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UJT1.
    SMRiQ9UJT1. Positions 3-450.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the tubulin family.Curated

    Phylogenomic databases

    eggNOGiCOG5023.
    HOGENOMiHOG000006615.
    HOVERGENiHBG000807.
    InParanoidiQ9UJT1.
    KOiK10390.
    OMAiCSKRENE.
    OrthoDBiEOG7KH9JK.
    PhylomeDBiQ9UJT1.
    TreeFamiTF329833.

    Family and domain databases

    Gene3Di1.10.287.600. 1 hit.
    3.40.50.1440. 1 hit.
    InterProiIPR002967. Delta_tubulin.
    IPR008280. Tub_FtsZ_C.
    IPR000217. Tubulin.
    IPR023123. Tubulin_C.
    IPR017975. Tubulin_CS.
    IPR003008. Tubulin_FtsZ_GTPase.
    [Graphical view]
    PANTHERiPTHR11588. PTHR11588. 1 hit.
    PTHR11588:SF4. PTHR11588:SF4. 1 hit.
    PfamiPF00091. Tubulin. 1 hit.
    [Graphical view]
    PRINTSiPR01224. DELTATUBULIN.
    PR01161. TUBULIN.
    SMARTiSM00864. Tubulin. 1 hit.
    [Graphical view]
    SUPFAMiSSF52490. SSF52490. 1 hit.
    SSF55307. SSF55307. 1 hit.
    PROSITEiPS00227. TUBULIN. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Note: Experimental confirmation may be lacking for some isoforms.

    Isoform 1 (identifier: Q9UJT1-1) [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

    MSIVTVQLGQ CGNQIGFEVF DALLSDSHSS QGLCSMRENE AYQASCKERF    50
    FSEEENGVPI ARAVLVDMEP KVINQMLSKA AQSGQWKYGQ HACFCQKQGS 100
    GNNWAYGYSV HGPRHEESIM NIIRKEVEKC DSFSGFFIIM SMAGGTGSGL 150
    GAFVTQNLED QYSNSLKMNQ IIWPYGTGEV IVQNYNSILT LSHLYRSSDA 200
    LLLHENDAIH KICAKLMNIK QISFSDINQV LAHQLGSVFQ PTYSAESSFH 250
    YRRNPLGDLM EHLVPHPEFK MLSVRNIPHM SENSLAYTTF TWAGLLKHLR 300
    QMLISNAKME EGIDRHVWPP LSGLPPLSKM SLNKDLHFNT SIANLVILRG 350
    KDVQSADVEG FKDPALYTSW LKPVNAFNVW KTQRAFSKYE KSAVLVSNSQ 400
    FLVKPLDMIV GKAWNMFASK AYIHQYTKFG IEEEDFLDSF TSLEQVVASY 450
    CNL 453
    Length:453
    Mass (Da):51,034
    Last modified:January 23, 2007 - v2
    Checksum:i2D78AB3D9EEB9158
    GO
    Isoform 2 (identifier: Q9UJT1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         257-311: Missing.

    Show »
    Length:398
    Mass (Da):44,658
    Checksum:iBEE6B7C9F36B5541
    GO
    Isoform 3 (identifier: Q9UJT1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         58-311: Missing.

    Show »
    Length:199
    Mass (Da):22,381
    Checksum:iECCC2578542A1114
    GO
    Isoform 4 (identifier: Q9UJT1-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-216: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:237
    Mass (Da):27,074
    Checksum:iD16AE1CDD4E5E1C4
    GO
    Isoform 5 (identifier: Q9UJT1-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         358-420: VEGFKDPALYTSWLKPVNAFNVWKTQRAFSKYEKSAVLVSNSQFLVKPLDMIVGKAWNMFASK → VGKKFR

    Note: No experimental confirmation available.

    Show »
    Length:396
    Mass (Da):44,555
    Checksum:iE26BC25E242DC48D
    GO
    Isoform 6 (identifier: Q9UJT1-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         257-358: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:351
    Mass (Da):39,525
    Checksum:i2F6715FAD6D6E9B2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti130 – 1301C → R in BAG60700. (PubMed:14702039)Curated
    Sequence conflicti270 – 2701K → R in BAG60700. (PubMed:14702039)Curated
    Sequence conflicti398 – 3981N → D in BAB14825. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti76 – 761M → T.2 Publications
    Corresponds to variant rs1292053 [ dbSNP | Ensembl ].
    VAR_030000

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 216216Missing in isoform 4. 1 PublicationVSP_045196Add
    BLAST
    Alternative sequencei58 – 311254Missing in isoform 3. 1 PublicationVSP_006680Add
    BLAST
    Alternative sequencei257 – 358102Missing in isoform 6. 1 PublicationVSP_046949Add
    BLAST
    Alternative sequencei257 – 31155Missing in isoform 2. 1 PublicationVSP_006681Add
    BLAST
    Alternative sequencei358 – 42063VEGFK…MFASK → VGKKFR in isoform 5. 1 PublicationVSP_046950Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF201333 mRNA. Translation: AAF09584.1.
    AB030837 mRNA. Translation: BAD16590.1.
    AB031045 mRNA. Translation: BAD83581.1.
    AK024096 mRNA. Translation: BAB14825.1.
    AK298492 mRNA. Translation: BAG60700.1.
    AK301312 mRNA. Translation: BAG62863.1.
    AC004686 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94385.1.
    CH471109 Genomic DNA. Translation: EAW94387.1.
    BC000258 mRNA. Translation: AAH00258.1.
    CCDSiCCDS11620.1. [Q9UJT1-1]
    CCDS54151.1. [Q9UJT1-4]
    CCDS54152.1. [Q9UJT1-6]
    CCDS54153.1. [Q9UJT1-2]
    CCDS54154.1. [Q9UJT1-5]
    RefSeqiNP_001180538.1. NM_001193609.1. [Q9UJT1-2]
    NP_001180539.1. NM_001193610.1. [Q9UJT1-5]
    NP_001180540.1. NM_001193611.1. [Q9UJT1-6]
    NP_001180541.1. NM_001193612.1.
    NP_001180542.1. NM_001193613.1. [Q9UJT1-4]
    NP_057345.2. NM_016261.3. [Q9UJT1-1]
    UniGeneiHs.463638.

    Genome annotation databases

    EnsembliENST00000325752; ENSP00000320797; ENSG00000108423. [Q9UJT1-1]
    ENST00000340993; ENSP00000342399; ENSG00000108423. [Q9UJT1-2]
    ENST00000346141; ENSP00000342561; ENSG00000108423. [Q9UJT1-3]
    ENST00000376094; ENSP00000365262; ENSG00000108423. [Q9UJT1-6]
    ENST00000394239; ENSP00000377785; ENSG00000108423. [Q9UJT1-5]
    ENST00000539018; ENSP00000441757; ENSG00000108423. [Q9UJT1-4]
    ENST00000592426; ENSP00000468518; ENSG00000108423. [Q9UJT1-1]
    GeneIDi51174.
    KEGGihsa:51174.
    UCSCiuc002ixw.2. human. [Q9UJT1-1]
    uc002ixx.2. human. [Q9UJT1-2]
    uc010ddi.2. human. [Q9UJT1-3]

    Polymorphism databases

    DMDMi124056483.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF201333 mRNA. Translation: AAF09584.1 .
    AB030837 mRNA. Translation: BAD16590.1 .
    AB031045 mRNA. Translation: BAD83581.1 .
    AK024096 mRNA. Translation: BAB14825.1 .
    AK298492 mRNA. Translation: BAG60700.1 .
    AK301312 mRNA. Translation: BAG62863.1 .
    AC004686 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94385.1 .
    CH471109 Genomic DNA. Translation: EAW94387.1 .
    BC000258 mRNA. Translation: AAH00258.1 .
    CCDSi CCDS11620.1. [Q9UJT1-1 ]
    CCDS54151.1. [Q9UJT1-4 ]
    CCDS54152.1. [Q9UJT1-6 ]
    CCDS54153.1. [Q9UJT1-2 ]
    CCDS54154.1. [Q9UJT1-5 ]
    RefSeqi NP_001180538.1. NM_001193609.1. [Q9UJT1-2 ]
    NP_001180539.1. NM_001193610.1. [Q9UJT1-5 ]
    NP_001180540.1. NM_001193611.1. [Q9UJT1-6 ]
    NP_001180541.1. NM_001193612.1.
    NP_001180542.1. NM_001193613.1. [Q9UJT1-4 ]
    NP_057345.2. NM_016261.3. [Q9UJT1-1 ]
    UniGenei Hs.463638.

    3D structure databases

    ProteinModelPortali Q9UJT1.
    SMRi Q9UJT1. Positions 3-450.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119352. 4 interactions.
    STRINGi 9606.ENSP00000320797.

    PTM databases

    PhosphoSitei Q9UJT1.

    Polymorphism databases

    DMDMi 124056483.

    Proteomic databases

    MaxQBi Q9UJT1.
    PaxDbi Q9UJT1.
    PRIDEi Q9UJT1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000325752 ; ENSP00000320797 ; ENSG00000108423 . [Q9UJT1-1 ]
    ENST00000340993 ; ENSP00000342399 ; ENSG00000108423 . [Q9UJT1-2 ]
    ENST00000346141 ; ENSP00000342561 ; ENSG00000108423 . [Q9UJT1-3 ]
    ENST00000376094 ; ENSP00000365262 ; ENSG00000108423 . [Q9UJT1-6 ]
    ENST00000394239 ; ENSP00000377785 ; ENSG00000108423 . [Q9UJT1-5 ]
    ENST00000539018 ; ENSP00000441757 ; ENSG00000108423 . [Q9UJT1-4 ]
    ENST00000592426 ; ENSP00000468518 ; ENSG00000108423 . [Q9UJT1-1 ]
    GeneIDi 51174.
    KEGGi hsa:51174.
    UCSCi uc002ixw.2. human. [Q9UJT1-1 ]
    uc002ixx.2. human. [Q9UJT1-2 ]
    uc010ddi.2. human. [Q9UJT1-3 ]

    Organism-specific databases

    CTDi 51174.
    GeneCardsi GC17M057936.
    HGNCi HGNC:16811. TUBD1.
    HPAi CAB004609.
    HPA023980.
    HPA027090.
    MIMi 607344. gene.
    neXtProti NX_Q9UJT1.
    PharmGKBi PA134909953.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5023.
    HOGENOMi HOG000006615.
    HOVERGENi HBG000807.
    InParanoidi Q9UJT1.
    KOi K10390.
    OMAi CSKRENE.
    OrthoDBi EOG7KH9JK.
    PhylomeDBi Q9UJT1.
    TreeFami TF329833.

    Miscellaneous databases

    ChiTaRSi TUBD1. human.
    GeneWikii TUBD1.
    GenomeRNAii 51174.
    NextBioi 54125.
    PROi Q9UJT1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UJT1.
    Bgeei Q9UJT1.
    CleanExi HS_TUBD1.
    Genevestigatori Q9UJT1.

    Family and domain databases

    Gene3Di 1.10.287.600. 1 hit.
    3.40.50.1440. 1 hit.
    InterProi IPR002967. Delta_tubulin.
    IPR008280. Tub_FtsZ_C.
    IPR000217. Tubulin.
    IPR023123. Tubulin_C.
    IPR017975. Tubulin_CS.
    IPR003008. Tubulin_FtsZ_GTPase.
    [Graphical view ]
    PANTHERi PTHR11588. PTHR11588. 1 hit.
    PTHR11588:SF4. PTHR11588:SF4. 1 hit.
    Pfami PF00091. Tubulin. 1 hit.
    [Graphical view ]
    PRINTSi PR01224. DELTATUBULIN.
    PR01161. TUBULIN.
    SMARTi SM00864. Tubulin. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52490. SSF52490. 1 hit.
    SSF55307. SSF55307. 1 hit.
    PROSITEi PS00227. TUBULIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Delta-tubulin and epsilon-tubulin: two new human centrosomal tubulins reveal new aspects of centrosome structure and function."
      Chang P., Stearns T.
      Nat. Cell Biol. 2:30-35(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-76.
    2. "Delta-tubulin is a component of intercellular bridges and both the early and mature perinuclear rings during spermatogenesis."
      Kato A., Nagata Y., Todokoro K.
      Dev. Biol. 269:196-205(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 6), VARIANT THR-76.
    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] (ISOFORMS 3; 4 AND 5).
      Tissue: Embryo, Mammary gland and Stomach.
    4. "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].
    5. 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] (ISOFORM 2).
      Tissue: Eye.

    Entry informationi

    Entry nameiTBD_HUMAN
    AccessioniPrimary (citable) accession number: Q9UJT1
    Secondary accession number(s): B4DPT8
    , B4DW01, D3DU02, E9PCA7, E9PCQ8, Q5KU36, Q9BWG9, Q9H7Z8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 131 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