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Q9UBY8

- CLN8_HUMAN

UniProt

Q9UBY8 - CLN8_HUMAN

Protein

Protein CLN8

Gene

CLN8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 3 (17 Apr 2007)
      Previous versions | rss
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    Functioni

    Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.1 Publication

    GO - Biological processi

    1. adult walking behavior Source: Ensembl
    2. age-dependent response to oxidative stress Source: Ensembl
    3. associative learning Source: Ensembl
    4. cell death Source: UniProtKB-KW
    5. cellular protein catabolic process Source: Ensembl
    6. ceramide biosynthetic process Source: UniProtKB
    7. ceramide metabolic process Source: UniProtKB
    8. cholesterol metabolic process Source: UniProtKB
    9. L-glutamate uptake involved in synaptic transmission Source: Ensembl
    10. lipid biosynthetic process Source: UniProtKB
    11. lipid transport Source: UniProtKB
    12. lysosome organization Source: Ensembl
    13. mitochondrial membrane organization Source: Ensembl
    14. musculoskeletal movement Source: Ensembl
    15. negative regulation of apoptotic process Source: Ensembl
    16. negative regulation of proteolysis Source: UniProtKB
    17. negative regulation of transferase activity Source: Ensembl
    18. nervous system development Source: UniProtKB
    19. neurofilament cytoskeleton organization Source: Ensembl
    20. neuromuscular process controlling balance Source: Ensembl
    21. neuromuscular process controlling posture Source: Ensembl
    22. phospholipid metabolic process Source: UniProtKB
    23. photoreceptor cell maintenance Source: Ensembl
    24. protein catabolic process Source: UniProtKB
    25. regulation of cell size Source: Ensembl
    26. retina development in camera-type eye Source: Ensembl
    27. social behavior Source: Ensembl
    28. somatic motor neuron differentiation Source: Ensembl
    29. visual perception Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein CLN8
    Gene namesi
    Name:CLN8
    Synonyms:C8orf61
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:2079. CLN8.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication. Endoplasmic reticulum-Golgi intermediate compartment membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
    3. endoplasmic reticulum-Golgi intermediate compartment membrane Source: UniProtKB-SubCell
    4. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    5. integral component of membrane Source: UniProtKB
    6. mitochondrion Source: GOC

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]: A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161L → M in CLN8; associated with M-170 on the same allele. 1 Publication
    VAR_026554
    Natural varianti24 – 241R → G in CLN8NE. 2 Publications
    VAR_013174
    Natural varianti30 – 301A → P in CLN8. 1 Publication
    VAR_060573
    Natural varianti61 – 611Missing in CLN8. 1 Publication
    VAR_060574
    Natural varianti70 – 701R → H in CLN8. 1 Publication
    VAR_066920
    Natural varianti76 – 761Q → R in CLN8. 1 Publication
    VAR_066921
    Natural varianti107 – 1071I → S in CLN8. 1 Publication
    VAR_066922
    Natural varianti125 – 1251N → S in CLN8. 1 Publication
    Corresponds to variant rs142269885 [ dbSNP | Ensembl ].
    VAR_066923
    Natural varianti139 – 1391H → Y in CLN8. 1 Publication
    VAR_066924
    Natural varianti158 – 1581Y → C in CLN8. 2 Publications
    VAR_058438
    Natural varianti170 – 1701T → M in CLN8; associated with M-16 on the same allele. 1 Publication
    Corresponds to variant rs188259026 [ dbSNP | Ensembl ].
    VAR_026555
    Natural varianti194 – 1941Q → R in CLN8. 1 Publication
    VAR_060575
    Natural varianti204 – 2041R → C in CLN8. 1 Publication
    VAR_026556
    Natural varianti213 – 2131Missing in CLN8. 1 Publication
    VAR_066925
    Natural varianti221 – 2211G → S in CLN8. 1 Publication
    VAR_066926
    Natural varianti229 – 2291P → A in CLN8. 1 Publication
    Corresponds to variant rs150047904 [ dbSNP | Ensembl ].
    VAR_066927
    Natural varianti237 – 2371G → R in CLN8. 2 Publications
    VAR_058439
    Natural varianti263 – 2631W → C in CLN8. 1 Publication
    Corresponds to variant rs28940569 [ dbSNP | Ensembl ].
    VAR_026557
    Natural varianti269 – 2691E → V in CLN8. 1 Publication
    VAR_066928
    Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE) [MIM:610003]: A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti24 – 241R → G in CLN8NE. 2 Publications
    VAR_013174

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi283 – 2842KK → RR: Localizes to the Golgi complex. 1 Publication

    Keywords - Diseasei

    Disease mutation, Epilepsy, Mental retardation, Neurodegeneration, Neuronal ceroid lipofuscinosis

    Organism-specific databases

    MIMi600143. phenotype.
    610003. phenotype.
    Orphaneti228354. CLN8 disease.
    1947. Progressive epilepsy - intellectual disability, Finnish type.
    PharmGKBiPA26606.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 286286Protein CLN8PRO_0000185537Add
    BLAST

    Post-translational modificationi

    Does not seem to be N-glycosylated.

    Proteomic databases

    MaxQBiQ9UBY8.
    PaxDbiQ9UBY8.
    PRIDEiQ9UBY8.

    Expressioni

    Gene expression databases

    BgeeiQ9UBY8.
    CleanExiHS_CLN8.
    GenevestigatoriQ9UBY8.

    Interactioni

    Protein-protein interaction databases

    BioGridi108369. 31 interactions.
    MINTiMINT-4723430.
    STRINGi9606.ENSP00000328182.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UBY8.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 4121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei62 – 8423HelicalSequence AnalysisAdd
    BLAST
    Transmembranei103 – 12321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei131 – 15121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei226 – 24621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini62 – 262201TLCPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi283 – 2864ER-retrieval signal

    Sequence similaritiesi

    Contains 1 TLC (TRAM/LAG1/CLN8) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG239251.
    HOGENOMiHOG000111792.
    HOVERGENiHBG028338.
    InParanoidiQ9UBY8.
    KOiK12360.
    OMAiLTYHMWW.
    OrthoDBiEOG7MSMPD.
    PhylomeDBiQ9UBY8.
    TreeFamiTF331146.

    Family and domain databases

    InterProiIPR006634. TLC-dom.
    [Graphical view]
    PfamiPF03798. TRAM_LAG1_CLN8. 1 hit.
    [Graphical view]
    SMARTiSM00724. TLC. 1 hit.
    [Graphical view]
    PROSITEiPS50922. TLC. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9UBY8-1 [UniParc]FASTAAdd to Basket

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    MNPASDGGTS ESIFDLDYAS WGIRSTLMVA GFVFYLGVFV VCHQLSSSLN    50
    ATYRSLVARE KVFWDLAATR AVFGVQSTAA GLWALLGDPV LHADKARGQQ 100
    NWCWFHITTA TGFFCFENVA VHLSNLIFRT FDLFLVIHHL FAFLGFLGCL 150
    VNLQAGHYLA MTTLLLEMST PFTCVSWMLL KAGWSESLFW KLNQWLMIHM 200
    FHCRMVLTYH MWWVCFWHWD GLVSSLYLPH LTLFLVGLAL LTLIINPYWT 250
    HKKTQQLLNP VDWNFAQPEA KSRPEGNGQL LRKKRP 286
    Length:286
    Mass (Da):32,787
    Last modified:April 17, 2007 - v3
    Checksum:i1A5995B13E14DCDC
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti225 – 2251S → N in AAF13115. (PubMed:10508524)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161L → M in CLN8; associated with M-170 on the same allele. 1 Publication
    VAR_026554
    Natural varianti24 – 241R → G in CLN8NE. 2 Publications
    VAR_013174
    Natural varianti30 – 301A → P in CLN8. 1 Publication
    VAR_060573
    Natural varianti61 – 611Missing in CLN8. 1 Publication
    VAR_060574
    Natural varianti70 – 701R → H in CLN8. 1 Publication
    VAR_066920
    Natural varianti76 – 761Q → R in CLN8. 1 Publication
    VAR_066921
    Natural varianti92 – 921H → Y.
    Corresponds to variant rs34030778 [ dbSNP | Ensembl ].
    VAR_031704
    Natural varianti107 – 1071I → S in CLN8. 1 Publication
    VAR_066922
    Natural varianti125 – 1251N → S in CLN8. 1 Publication
    Corresponds to variant rs142269885 [ dbSNP | Ensembl ].
    VAR_066923
    Natural varianti139 – 1391H → Y in CLN8. 1 Publication
    VAR_066924
    Natural varianti155 – 1551A → V.1 Publication
    VAR_013175
    Natural varianti158 – 1581Y → C in CLN8. 2 Publications
    VAR_058438
    Natural varianti170 – 1701T → M in CLN8; associated with M-16 on the same allele. 1 Publication
    Corresponds to variant rs188259026 [ dbSNP | Ensembl ].
    VAR_026555
    Natural varianti194 – 1941Q → R in CLN8. 1 Publication
    VAR_060575
    Natural varianti204 – 2041R → C in CLN8. 1 Publication
    VAR_026556
    Natural varianti213 – 2131Missing in CLN8. 1 Publication
    VAR_066925
    Natural varianti221 – 2211G → S in CLN8. 1 Publication
    VAR_066926
    Natural varianti229 – 2291P → A in CLN8. 1 Publication
    Corresponds to variant rs150047904 [ dbSNP | Ensembl ].
    VAR_066927
    Natural varianti237 – 2371G → R in CLN8. 2 Publications
    VAR_058439
    Natural varianti263 – 2631W → C in CLN8. 1 Publication
    Corresponds to variant rs28940569 [ dbSNP | Ensembl ].
    VAR_026557
    Natural varianti269 – 2691E → V in CLN8. 1 Publication
    VAR_066928

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF123757 mRNA. Translation: AAF13115.1.
    AF123758 mRNA. Translation: AAF13116.1.
    AF123759 mRNA. Translation: AAF13117.1.
    AF123760 mRNA. Translation: AAF13118.1.
    AF123761 mRNA. Translation: AAF13119.1.
    BT007049 mRNA. Translation: AAP35698.1.
    BC007725 mRNA. Translation: AAH07725.1.
    CCDSiCCDS5956.1.
    RefSeqiNP_061764.2. NM_018941.3.
    XP_005266078.1. XM_005266021.2.
    XP_005266079.1. XM_005266022.1.
    XP_005266080.1. XM_005266023.1.
    XP_005266081.1. XM_005266024.2.
    XP_005266082.1. XM_005266025.1.
    XP_005266083.1. XM_005266026.2.
    XP_005266084.1. XM_005266027.2.
    XP_006725816.1. XM_006725753.1.
    XP_006725817.1. XM_006725754.1.
    XP_006725818.1. XM_006725755.1.
    XP_006725819.1. XM_006725756.1.
    XP_006725820.1. XM_006725757.1.
    XP_006725821.1. XM_006725758.1.
    XP_006725822.1. XM_006725759.1.
    UniGeneiHs.127675.

    Genome annotation databases

    EnsembliENST00000331222; ENSP00000328182; ENSG00000182372.
    GeneIDi2055.
    KEGGihsa:2055.
    UCSCiuc003wpo.4. human.

    Polymorphism databases

    DMDMi145559455.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    NCL CLN8

    Neural Ceroid Lipofuscinoses mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF123757 mRNA. Translation: AAF13115.1 .
    AF123758 mRNA. Translation: AAF13116.1 .
    AF123759 mRNA. Translation: AAF13117.1 .
    AF123760 mRNA. Translation: AAF13118.1 .
    AF123761 mRNA. Translation: AAF13119.1 .
    BT007049 mRNA. Translation: AAP35698.1 .
    BC007725 mRNA. Translation: AAH07725.1 .
    CCDSi CCDS5956.1.
    RefSeqi NP_061764.2. NM_018941.3.
    XP_005266078.1. XM_005266021.2.
    XP_005266079.1. XM_005266022.1.
    XP_005266080.1. XM_005266023.1.
    XP_005266081.1. XM_005266024.2.
    XP_005266082.1. XM_005266025.1.
    XP_005266083.1. XM_005266026.2.
    XP_005266084.1. XM_005266027.2.
    XP_006725816.1. XM_006725753.1.
    XP_006725817.1. XM_006725754.1.
    XP_006725818.1. XM_006725755.1.
    XP_006725819.1. XM_006725756.1.
    XP_006725820.1. XM_006725757.1.
    XP_006725821.1. XM_006725758.1.
    XP_006725822.1. XM_006725759.1.
    UniGenei Hs.127675.

    3D structure databases

    ProteinModelPortali Q9UBY8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108369. 31 interactions.
    MINTi MINT-4723430.
    STRINGi 9606.ENSP00000328182.

    Polymorphism databases

    DMDMi 145559455.

    Proteomic databases

    MaxQBi Q9UBY8.
    PaxDbi Q9UBY8.
    PRIDEi Q9UBY8.

    Protocols and materials databases

    DNASUi 2055.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331222 ; ENSP00000328182 ; ENSG00000182372 .
    GeneIDi 2055.
    KEGGi hsa:2055.
    UCSCi uc003wpo.4. human.

    Organism-specific databases

    CTDi 2055.
    GeneCardsi GC08P001699.
    GeneReviewsi CLN8.
    HGNCi HGNC:2079. CLN8.
    MIMi 600143. phenotype.
    607837. gene.
    610003. phenotype.
    neXtProti NX_Q9UBY8.
    Orphaneti 228354. CLN8 disease.
    1947. Progressive epilepsy - intellectual disability, Finnish type.
    PharmGKBi PA26606.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG239251.
    HOGENOMi HOG000111792.
    HOVERGENi HBG028338.
    InParanoidi Q9UBY8.
    KOi K12360.
    OMAi LTYHMWW.
    OrthoDBi EOG7MSMPD.
    PhylomeDBi Q9UBY8.
    TreeFami TF331146.

    Miscellaneous databases

    ChiTaRSi CLN8. human.
    GeneWikii CLN8.
    GenomeRNAii 2055.
    NextBioi 8357.
    PROi Q9UBY8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UBY8.
    CleanExi HS_CLN8.
    Genevestigatori Q9UBY8.

    Family and domain databases

    InterProi IPR006634. TLC-dom.
    [Graphical view ]
    Pfami PF03798. TRAM_LAG1_CLN8. 1 hit.
    [Graphical view ]
    SMARTi SM00724. TLC. 1 hit.
    [Graphical view ]
    PROSITEi PS50922. TLC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8."
      Ranta S., Zhang Y., Ross B., Lonka L., Takkunen E., Messer A., Sharp J., Wheeler R., Kusumi K., Mole S., Liu W., Soares M.B., Bonaldo M.F., Hirvasniemi A., de la Chapelle A., Gilliam T.C., Lehesjoki A.-E.
      Nat. Genet. 23:233-236(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CLN8NE GLY-24, VARIANT VAL-155.
    2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "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: Uterus.
    4. "The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum."
      Lonka L., Kyttaelae A., Ranta S., Jalanko A., Lehesjoki A.-E.
      Hum. Mol. Genet. 9:1691-1697(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF 283-LYS-LYS-284.
    5. "Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy."
      Ranta S., Topcu M., Tegelberg S., Tan H., Uestuebuetuen A., Saatci I., Dufke A., Enders H., Pohl K., Alembik Y., Mitchell W.A., Mole S.E., Lehesjoki A.-E.
      Hum. Mutat. 23:300-305(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CLN8 MET-16; MET-170; CYS-204 AND CYS-263.
    6. "Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean."
      Cannelli N., Cassandrini D., Bertini E., Striano P., Fusco L., Gaggero R., Specchio N., Biancheri R., Vigevano F., Bruno C., Simonati A., Zara F., Santorelli F.M.
      Neurogenetics 7:111-117(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CLN8 PRO-30; CYS-158 AND ARG-194.
    7. "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis."
      Kousi M., Siintola E., Dvorakova L., Vlaskova H., Turnbull J., Topcu M., Yuksel D., Gokben S., Minassian B.A., Elleder M., Mole S.E., Lehesjoki A.-E.
      Brain 132:810-819(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CLN8 CYS-158 AND ARG-237.
    8. "A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function."
      Vantaggiato C., Redaelli F., Falcone S., Perrotta C., Tonelli A., Bondioni S., Morbin M., Riva D., Saletti V., Bonaglia M.C., Giorda R., Bresolin N., Clementi E., Bassi M.T.
      Hum. Mutat. 30:1104-1116(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CLN8 LYS-61 DEL, FUNCTION.
    9. "Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses."
      Kousi M., Lehesjoki A.E., Mole S.E.
      Hum. Mutat. 33:42-63(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CLN8 HIS-70; ARG-76; SER-107; SER-125; TYR-139; TRP-213 DEL; SER-221; ALA-229; ARG-237 AND VAL-269, VARIANT CLN8NE GLY-24.

    Entry informationi

    Entry nameiCLN8_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBY8
    Secondary accession number(s): Q86U71, Q96I95
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2002
    Last sequence update: April 17, 2007
    Last modified: October 1, 2014
    This is version 126 of the entry and version 3 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 8
      Human chromosome 8: 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