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Q9H2C0

- GAN_HUMAN

UniProt

Q9H2C0 - GAN_HUMAN

Protein

Gigaxonin

Gene

GAN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.4 Publications

    Pathwayi

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. protein ubiquitination Source: UniProtKB

    Keywords - Biological processi

    Ubl conjugation pathway

    Enzyme and pathway databases

    ReactomeiREACT_75842. Antigen processing: Ubiquitination & Proteasome degradation.
    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gigaxonin
    Alternative name(s):
    Kelch-like protein 16
    Gene namesi
    Name:GAN
    Synonyms:GAN1, KLHL16
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:4137. GAN.

    Subcellular locationi

    GO - Cellular componenti

    1. Cul3-RING ubiquitin ligase complex Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. cytoskeleton Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]: A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151R → S in GAN1; no effect on binding to TBCB. 1 Publication
    VAR_010759
    Natural varianti51 – 511A → P in GAN1. 1 Publication
    VAR_054113
    Natural varianti52 – 521S → G in GAN1. 1 Publication
    VAR_010760
    Natural varianti79 – 791S → L in GAN1. 1 Publication
    VAR_010761
    Natural varianti82 – 821V → F in GAN1; no effect on binding to TBCB. 1 Publication
    VAR_010762
    Natural varianti86 – 861I → F in GAN1. 1 Publication
    VAR_015680
    Natural varianti89 – 891Y → C in GAN1. 1 Publication
    VAR_054114
    Natural varianti138 – 1381R → H in GAN1. 1 Publication
    VAR_010763
    Natural varianti195 – 1951V → F in GAN1. 1 Publication
    VAR_054115
    Natural varianti269 – 2691R → Q in GAN1. 2 Publications
    VAR_010764
    Natural varianti309 – 3091L → R in GAN1. 1 Publication
    VAR_010765
    Natural varianti315 – 3151P → L in GAN1. 1 Publication
    Corresponds to variant rs144486241 [ dbSNP | Ensembl ].
    VAR_054116
    Natural varianti368 – 3681G → R in GAN1. 2 Publications
    VAR_015681
    Natural varianti423 – 4231I → T in GAN1. 2 Publications
    VAR_015560
    Natural varianti474 – 4741G → R in GAN1. 1 Publication
    VAR_054117
    Natural varianti486 – 4861E → K in GAN1. 1 Publication
    VAR_010757
    Natural varianti545 – 5451R → C in GAN1; complete loss of binding to TBCB. 1 Publication
    VAR_010766
    Natural varianti545 – 5451R → H in GAN1. 1 Publication
    VAR_054118
    Natural varianti570 – 5701C → Y in GAN1. 1 Publication
    VAR_010767

    Keywords - Diseasei

    Disease mutation, Neurodegeneration

    Organism-specific databases

    MIMi256850. phenotype.
    Orphaneti643. Giant axonal neuropathy.
    PharmGKBiPA28550.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 597597GigaxoninPRO_0000119070Add
    BLAST

    Post-translational modificationi

    Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation.1 Publication

    Keywords - PTMi

    Ubl conjugation

    Proteomic databases

    MaxQBiQ9H2C0.
    PaxDbiQ9H2C0.
    PRIDEiQ9H2C0.

    PTM databases

    PhosphoSiteiQ9H2C0.

    Expressioni

    Tissue specificityi

    Expressed in brain, heart and muscle.1 Publication

    Gene expression databases

    BgeeiQ9H2C0.
    CleanExiHS_GAN.
    GenevestigatoriQ9H2C0.

    Organism-specific databases

    HPAiCAB011825.
    HPA049473.

    Interactioni

    Subunit structurei

    Interacts with TBCB. Interacts with CUL3. Part of a complex that contains CUL3, RBX1 and GAN. Interacts (via BTB domain) with UBA1. Interacts (via Kelch domains) with MAP1B (via C-terminus) and MAP1S (via C-terminus).5 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    MAP1BP468213EBI-764342,EBI-764611
    TBCBQ994263EBI-764342,EBI-764356
    UBA1P223145EBI-764342,EBI-709688

    Protein-protein interaction databases

    BioGridi113800. 9 interactions.
    IntActiQ9H2C0. 9 interactions.
    MINTiMINT-243055.
    STRINGi9606.ENSP00000248272.

    Structurei

    Secondary structure

    1
    597
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi12 – 2211
    Beta strandi32 – 365
    Beta strandi39 – 435
    Helixi45 – 517
    Helixi53 – 619
    Beta strandi72 – 743
    Helixi80 – 9011
    Turni99 – 1013
    Helixi102 – 11110
    Helixi115 – 1228
    Helixi135 – 1439
    Helixi147 – 16418
    Helixi168 – 1714
    Helixi175 – 1839
    Helixi196 – 1994
    Turni200 – 2023
    Turni211 – 2133
    Helixi214 – 22411
    Helixi231 – 2366
    Helixi241 – 2455

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2PPIX-ray2.40A6-126[»]
    3HVEX-ray2.80A/B1-254[»]
    ProteinModelPortaliQ9H2C0.
    SMRiQ9H2C0. Positions 3-581.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9H2C0.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini30 – 9970BTBPROSITE-ProRule annotationAdd
    BLAST
    Domaini134 – 236103BACKAdd
    BLAST
    Repeati274 – 32653Kelch 1Add
    BLAST
    Repeati327 – 37448Kelch 2Add
    BLAST
    Repeati376 – 42146Kelch 3Add
    BLAST
    Repeati422 – 46847Kelch 4Add
    BLAST
    Repeati470 – 52253Kelch 5Add
    BLAST
    Repeati528 – 57447Kelch 6Add
    BLAST

    Sequence similaritiesi

    Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
    Contains 6 Kelch repeats.Curated

    Keywords - Domaini

    Kelch repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG274392.
    HOGENOMiHOG000290709.
    HOVERGENiHBG005802.
    InParanoidiQ9H2C0.
    KOiK10453.
    OMAiIQGSEMV.
    OrthoDBiEOG7P2XRJ.
    PhylomeDBiQ9H2C0.
    TreeFamiTF329218.

    Family and domain databases

    Gene3Di2.120.10.80. 1 hit.
    3.30.710.10. 1 hit.
    InterProiIPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR015915. Kelch-typ_b-propeller.
    IPR006652. Kelch_1.
    [Graphical view]
    PfamiPF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 3 hits.
    [Graphical view]
    PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTiSM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 5 hits.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 1 hit.
    PROSITEiPS50097. BTB. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9H2C0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAEGSAVSDP QHAARLLRAL SSFREESRFC DAHLVLDGEE IPVQKNILAA    50
    ASPYIRTKLN YNPPKDDGST YKIELEGISV MVMREILDYI FSGQIRLNED 100
    TIQDVVQAAD LLLLTDLKTL CCEFLEGCIA AENCIGIRDF ALHYCLHHVH 150
    YLATEYLETH FRDVSSTEEF LELSPQKLKE VISLEKLNVG NERYVFEAVI 200
    RWIAHDTEIR KVHMKDVMSA LWVSGLDSSY LREQMLNEPL VREIVKECSN 250
    IPLSQPQQGE AMLANFKPRG YSECIVTVGG EERVSRKPTA AMRCMCPLYD 300
    PNRQLWIELA PLSMPRINHG VLSAEGFLFV FGGQDENKQT LSSGEKYDPD 350
    ANTWTALPPM NEARHNFGIV EIDGMLYILG GEDGEKELIS MECYDIYSKT 400
    WTKQPDLTMV RKIGCYAAMK KKIYAMGGGS YGKLFESVEC YDPRTQQWTA 450
    ICPLKERRFG AVACGVAMEL YVFGGVRSRE DAQGSEMVTC KSEFYHDEFK 500
    RWIYLNDQNL CIPASSSFVY GAVPIGASIY VIGDLDTGTN YDYVREFKRS 550
    TGTWHHTKPL LPSDLRRTGC AALRIANCKL FRLQLQQGLF RIRVHSP 597
    Length:597
    Mass (Da):67,638
    Last modified:March 1, 2001 - v1
    Checksum:i4B6ECFA6849880C7
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151R → S in GAN1; no effect on binding to TBCB. 1 Publication
    VAR_010759
    Natural varianti51 – 511A → P in GAN1. 1 Publication
    VAR_054113
    Natural varianti52 – 521S → G in GAN1. 1 Publication
    VAR_010760
    Natural varianti79 – 791S → L in GAN1. 1 Publication
    VAR_010761
    Natural varianti82 – 821V → F in GAN1; no effect on binding to TBCB. 1 Publication
    VAR_010762
    Natural varianti86 – 861I → F in GAN1. 1 Publication
    VAR_015680
    Natural varianti89 – 891Y → C in GAN1. 1 Publication
    VAR_054114
    Natural varianti138 – 1381R → H in GAN1. 1 Publication
    VAR_010763
    Natural varianti195 – 1951V → F in GAN1. 1 Publication
    VAR_054115
    Natural varianti269 – 2691R → Q in GAN1. 2 Publications
    VAR_010764
    Natural varianti309 – 3091L → R in GAN1. 1 Publication
    VAR_010765
    Natural varianti315 – 3151P → L in GAN1. 1 Publication
    Corresponds to variant rs144486241 [ dbSNP | Ensembl ].
    VAR_054116
    Natural varianti368 – 3681G → R in GAN1. 2 Publications
    VAR_015681
    Natural varianti423 – 4231I → T in GAN1. 2 Publications
    VAR_015560
    Natural varianti474 – 4741G → R in GAN1. 1 Publication
    VAR_054117
    Natural varianti486 – 4861E → K in GAN1. 1 Publication
    VAR_010757
    Natural varianti545 – 5451R → C in GAN1; complete loss of binding to TBCB. 1 Publication
    VAR_010766
    Natural varianti545 – 5451R → H in GAN1. 1 Publication
    VAR_054118
    Natural varianti570 – 5701C → Y in GAN1. 1 Publication
    VAR_010767

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF291673 mRNA. Translation: AAG35311.1.
    BC044840 mRNA. Translation: AAH44840.1.
    CCDSiCCDS10935.1.
    RefSeqiNP_071324.1. NM_022041.3.
    UniGeneiHs.112569.

    Genome annotation databases

    EnsembliENST00000568107; ENSP00000476795; ENSG00000261609.
    GeneIDi8139.
    KEGGihsa:8139.
    UCSCiuc002fgo.3. human.

    Polymorphism databases

    DMDMi13626745.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Inherited peripheral neuropathies mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF291673 mRNA. Translation: AAG35311.1 .
    BC044840 mRNA. Translation: AAH44840.1 .
    CCDSi CCDS10935.1.
    RefSeqi NP_071324.1. NM_022041.3.
    UniGenei Hs.112569.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2PPI X-ray 2.40 A 6-126 [» ]
    3HVE X-ray 2.80 A/B 1-254 [» ]
    ProteinModelPortali Q9H2C0.
    SMRi Q9H2C0. Positions 3-581.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113800. 9 interactions.
    IntActi Q9H2C0. 9 interactions.
    MINTi MINT-243055.
    STRINGi 9606.ENSP00000248272.

    PTM databases

    PhosphoSitei Q9H2C0.

    Polymorphism databases

    DMDMi 13626745.

    Proteomic databases

    MaxQBi Q9H2C0.
    PaxDbi Q9H2C0.
    PRIDEi Q9H2C0.

    Protocols and materials databases

    DNASUi 8139.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000568107 ; ENSP00000476795 ; ENSG00000261609 .
    GeneIDi 8139.
    KEGGi hsa:8139.
    UCSCi uc002fgo.3. human.

    Organism-specific databases

    CTDi 8139.
    GeneCardsi GC16P081348.
    GeneReviewsi GAN.
    HGNCi HGNC:4137. GAN.
    HPAi CAB011825.
    HPA049473.
    MIMi 256850. phenotype.
    605379. gene.
    neXtProti NX_Q9H2C0.
    Orphaneti 643. Giant axonal neuropathy.
    PharmGKBi PA28550.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG274392.
    HOGENOMi HOG000290709.
    HOVERGENi HBG005802.
    InParanoidi Q9H2C0.
    KOi K10453.
    OMAi IQGSEMV.
    OrthoDBi EOG7P2XRJ.
    PhylomeDBi Q9H2C0.
    TreeFami TF329218.

    Enzyme and pathway databases

    UniPathwayi UPA00143 .
    Reactomei REACT_75842. Antigen processing: Ubiquitination & Proteasome degradation.

    Miscellaneous databases

    ChiTaRSi GAN. human.
    EvolutionaryTracei Q9H2C0.
    GeneWikii Gigaxonin.
    GenomeRNAii 8139.
    NextBioi 30807.
    PROi Q9H2C0.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9H2C0.
    CleanExi HS_GAN.
    Genevestigatori Q9H2C0.

    Family and domain databases

    Gene3Di 2.120.10.80. 1 hit.
    3.30.710.10. 1 hit.
    InterProi IPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR015915. Kelch-typ_b-propeller.
    IPR006652. Kelch_1.
    [Graphical view ]
    Pfami PF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 3 hits.
    [Graphical view ]
    PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTi SM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 5 hits.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 1 hit.
    PROSITEi PS50097. BTB. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy."
      Bomont P., Cavalier L., Blondeau F., Ben-Hamida C., Belal S., Tazir M., Demir E., Topaloglu H., Korinthenberg R., Tueysuez B., Landrieu P., Hentati F., Koenig M.
      Nat. Genet. 26:370-374(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GAN1 SER-15; GLY-52; LEU-79; PHE-82; HIS-138; GLN-269; ARG-309; LYS-486; CYS-545 AND TYR-570.
      Tissue: Brain.
    2. "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].
      Tissue: Placenta.
    3. "Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin."
      Ding J., Liu J.-J., Kowal A.S., Nardine T., Bhattacharya P., Lee A., Yang Y.
      J. Cell Biol. 158:427-433(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH MAP1B, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    4. "Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases."
      Furukawa M., He Y.J., Borchers C., Xiong Y.
      Nat. Cell Biol. 5:1001-1007(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CUL3.
    5. "Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway."
      Wang W., Ding J., Allen E., Zhu P., Zhang L., Vogel H., Yang Y.
      Curr. Biol. 15:2050-2055(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH TBCB, CHARACTERIZATION OF VARIANTS GAN1 SER-15; PHE-82 AND CYS-545.
    6. "Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway."
      Zhang D.D., Lo S.C., Sun Z., Habib G.M., Lieberman M.W., Hannink M.
      J. Biol. Chem. 280:30091-30099(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION IN A COMPLEX WITH CUL3 AND RBX1, UBIQUITINATION.
    7. "Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival."
      Allen E., Ding J., Wang W., Pramanik S., Chou J., Yau V., Yang Y.
      Nature 438:224-228(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH UBA1 AND MAP1B.
    8. "Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level."
      Wang X.J., Zhang D.D.
      PLoS ONE 4:E5492-E5492(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    9. "Structures of SPOP-substrate complexes: insights into molecular architectures of BTB-Cul3 ubiquitin ligases."
      Zhuang M., Calabrese M.F., Liu J., Waddell M.B., Nourse A., Hammel M., Miller D.J., Walden H., Duda D.M., Seyedin S.N., Hoggard T., Harper J.W., White K.P., Schulman B.A.
      Mol. Cell 36:39-50(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 1-254.
    10. "Structure of the BTB (tramtrack and bric a brac) domain of human gigaxonin."
      Structural genomics consortium (SGC)
      Submitted (JUL-2011) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 6-126.
    11. "Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene."
      Kuhlenbaumer G., Young P., Oberwittler C., Hunermund G., Schirmacher A., Domschke K., Ringelstein B., Stogbauer F.
      Neurology 58:1273-1276(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GAN1 THR-423.
    12. Cited for: VARIANTS GAN1 PHE-86; GLN-269 AND ARG-368.
    13. "New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy."
      Houlden H., Groves M., Miedzybrodzka Z., Roper H., Willis T., Winer J., Cole G., Reilly M.M.
      J. Neurol. Neurosurg. Psych. 78:1267-1270(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GAN1 PRO-51 AND LEU-315.
    14. Cited for: VARIANTS GAN1 CYS-89; PHE-195; ARG-368; THR-423; ARG-474 AND HIS-545.

    Entry informationi

    Entry nameiGAN_HUMAN
    AccessioniPrimary (citable) accession number: Q9H2C0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 138 of the entry and version 1 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3