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Q96LT7

- CI072_HUMAN

UniProt

Q96LT7 - CI072_HUMAN

Protein

Protein C9orf72

Gene

C9orf72

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 2 (19 Jul 2005)
      Previous versions | rss
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    Functioni

    May play a role in endosomal trafficking and autophagy.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. Rab GTPase binding Source: UniProtKB

    GO - Biological processi

    1. autophagy Source: UniProtKB
    2. cell death Source: UniProtKB-KW
    3. endocytosis Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein C9orf72
    Gene namesi
    Name:C9orf72
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:28337. C9orf72.

    Subcellular locationi

    Nucleus. Cytoplasm. Endosome. Lysosome. Cytoplasmic vesicleautophagosome. Secreted
    Note: Detected in the cytoplasm of neurons from post mortem brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779).2 Publications

    GO - Cellular componenti

    1. autophagic vacuole Source: UniProtKB
    2. cytoplasmic vesicle Source: UniProtKB-KW
    3. endosome Source: UniProtKB
    4. extracellular space Source: UniProtKB
    5. lysosome Source: UniProtKB
    6. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoplasmic vesicle, Endosome, Lysosome, Nucleus, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) [MIM:105550]: An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry. In the first intron of the gene, the expansion of a GGGGCC hexanucleotide that can vary from 10 to thousands of repeats, represents the most common genetic cause of both familial and sporadic FTDALS. The hexanucleotide repeat expansion (HRE) is structurally polymorphic and during transcription, is responsible for the formation of RNA and DNA G-quadruplexes resulting in the production of aborted transcripts at the expense of functional transcripts. The accumulation of those aborted transcripts may cause nucleolar stress and indirectly cell death (PubMed:24598541).1 Publication

    Keywords - Diseasei

    Amyotrophic lateral sclerosis, Neurodegeneration

    Organism-specific databases

    MIMi105550. phenotype.
    Orphaneti803. Amyotrophic lateral sclerosis.
    275864. Behavioral variant of frontotemporal dementia.
    275872. Frontotemporal dementia with motor neuron disease.
    100070. Progressive non-fluent aphasia.
    100069. Semantic dementia.
    PharmGKBiPA134908144.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 481481Protein C9orf72PRO_0000089711Add
    BLAST

    Proteomic databases

    MaxQBiQ96LT7.
    PaxDbiQ96LT7.
    PRIDEiQ96LT7.

    PTM databases

    PhosphoSiteiQ96LT7.

    Expressioni

    Tissue specificityi

    Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level).2 Publications

    Gene expression databases

    ArrayExpressiQ96LT7.
    BgeeiQ96LT7.
    CleanExiHS_C9orf72.
    GenevestigatoriQ96LT7.

    Organism-specific databases

    HPAiHPA023873.

    Interactioni

    Subunit structurei

    Interacts with HNRNPA1, HNRNPA2B1 and UBQLN2. Interacts with small Rab GTPases including RAB1A and RAB7A.1 Publication

    Protein-protein interaction databases

    BioGridi128456. 5 interactions.
    IntActiQ96LT7. 3 interactions.
    STRINGi9606.ENSP00000369339.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96LT7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG40002.
    HOGENOMiHOG000231721.
    HOVERGENiHBG060354.
    InParanoidiQ96LT7.
    OMAiAQDTIIY.
    OrthoDBiEOG7H1JJZ.
    PhylomeDBiQ96LT7.
    TreeFamiTF313315.

    Family and domain databases

    InterProiIPR027819. C9orf72-like.
    [Graphical view]
    PfamiPF15019. C9orf72-like. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96LT7-1) [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

    MSTLCPPPSP AVAKTEIALS GKSPLLAATF AYWDNILGPR VRHIWAPKTE    50
    QVLLSDGEIT FLANHTLNGE ILRNAESGAI DVKFFVLSEK GVIIVSLIFD 100
    GNWNGDRSTY GLSIILPQTE LSFYLPLHRV CVDRLTHIIR KGRIWMHKER 150
    QENVQKIILE GTERMEDQGQ SIIPMLTGEV IPVMELLSSM KSHSVPEEID 200
    IADTVLNDDD IGDSCHEGFL LNAISSHLQT CGCSVVVGSS AEKVNKIVRT 250
    LCLFLTPAER KCSRLCEAES SFKYESGLFV QGLLKDSTGS FVLPFRQVMY 300
    APYPTTHIDV DVNTVKQMPP CHEHIYNQRR YMRSELTAFW RATSEEDMAQ 350
    DTIIYTDESF TPDLNIFQDV LHRDTLVKAF LDQVFQLKPG LSLRSTFLAQ 400
    FLLVLHRKAL TLIKYIEDDT QKGKKPFKSL RNLKIDLDLT AEGDLNIIMA 450
    LAEKIKPGLH SFIFGRPFYT SVQERDVLMT F 481

    Note: Encoded by 2 transcripts differing in the 5' non-coding region.

    Length:481
    Mass (Da):54,328
    Last modified:July 19, 2005 - v2
    Checksum:iB36C5576B3D268CE
    GO
    Isoform 2 (identifier: Q96LT7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         222-222: N → K
         223-481: Missing.

    Show »
    Length:222
    Mass (Da):24,759
    Checksum:i068FE35DB48FE903
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti207 – 2071N → S.
    Corresponds to variant rs17769294 [ dbSNP | Ensembl ].
    VAR_050827

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei222 – 2221N → K in isoform 2. 1 PublicationVSP_014745
    Alternative sequencei223 – 481259Missing in isoform 2. 1 PublicationVSP_014746Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    JN681271 mRNA. Translation: AET41697.1.
    AK057806 mRNA. Translation: BAB71583.1.
    AK291425 mRNA. Translation: BAF84114.1.
    AL451123 Genomic DNA. Translation: CAI13043.1.
    AL451123 Genomic DNA. Translation: CAI13044.1.
    CH471071 Genomic DNA. Translation: EAW58561.1.
    CH471071 Genomic DNA. Translation: EAW58558.1.
    CH471071 Genomic DNA. Translation: EAW58560.1.
    BC068445 mRNA. Translation: AAH68445.1.
    CCDSiCCDS6522.1. [Q96LT7-1]
    CCDS6523.1. [Q96LT7-2]
    RefSeqiNP_001242983.1. NM_001256054.1. [Q96LT7-1]
    NP_060795.1. NM_018325.3. [Q96LT7-1]
    NP_659442.2. NM_145005.5. [Q96LT7-2]
    UniGeneiHs.493639.

    Genome annotation databases

    EnsembliENST00000379995; ENSP00000369331; ENSG00000147894. [Q96LT7-2]
    ENST00000379997; ENSP00000369333; ENSG00000147894. [Q96LT7-2]
    ENST00000380003; ENSP00000369339; ENSG00000147894. [Q96LT7-1]
    GeneIDi203228.
    KEGGihsa:203228.
    UCSCiuc003zqq.3. human. [Q96LT7-1]
    uc003zqr.2. human. [Q96LT7-2]

    Polymorphism databases

    DMDMi71152412.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    JN681271 mRNA. Translation: AET41697.1 .
    AK057806 mRNA. Translation: BAB71583.1 .
    AK291425 mRNA. Translation: BAF84114.1 .
    AL451123 Genomic DNA. Translation: CAI13043.1 .
    AL451123 Genomic DNA. Translation: CAI13044.1 .
    CH471071 Genomic DNA. Translation: EAW58561.1 .
    CH471071 Genomic DNA. Translation: EAW58558.1 .
    CH471071 Genomic DNA. Translation: EAW58560.1 .
    BC068445 mRNA. Translation: AAH68445.1 .
    CCDSi CCDS6522.1. [Q96LT7-1 ]
    CCDS6523.1. [Q96LT7-2 ]
    RefSeqi NP_001242983.1. NM_001256054.1. [Q96LT7-1 ]
    NP_060795.1. NM_018325.3. [Q96LT7-1 ]
    NP_659442.2. NM_145005.5. [Q96LT7-2 ]
    UniGenei Hs.493639.

    3D structure databases

    ProteinModelPortali Q96LT7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128456. 5 interactions.
    IntActi Q96LT7. 3 interactions.
    STRINGi 9606.ENSP00000369339.

    PTM databases

    PhosphoSitei Q96LT7.

    Polymorphism databases

    DMDMi 71152412.

    Proteomic databases

    MaxQBi Q96LT7.
    PaxDbi Q96LT7.
    PRIDEi Q96LT7.

    Protocols and materials databases

    DNASUi 203228.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000379995 ; ENSP00000369331 ; ENSG00000147894 . [Q96LT7-2 ]
    ENST00000379997 ; ENSP00000369333 ; ENSG00000147894 . [Q96LT7-2 ]
    ENST00000380003 ; ENSP00000369339 ; ENSG00000147894 . [Q96LT7-1 ]
    GeneIDi 203228.
    KEGGi hsa:203228.
    UCSCi uc003zqq.3. human. [Q96LT7-1 ]
    uc003zqr.2. human. [Q96LT7-2 ]

    Organism-specific databases

    CTDi 203228.
    GeneCardsi GC09M027539.
    GeneReviewsi C9orf72.
    HGNCi HGNC:28337. C9orf72.
    HPAi HPA023873.
    MIMi 105550. phenotype.
    614260. gene.
    neXtProti NX_Q96LT7.
    Orphaneti 803. Amyotrophic lateral sclerosis.
    275864. Behavioral variant of frontotemporal dementia.
    275872. Frontotemporal dementia with motor neuron disease.
    100070. Progressive non-fluent aphasia.
    100069. Semantic dementia.
    PharmGKBi PA134908144.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40002.
    HOGENOMi HOG000231721.
    HOVERGENi HBG060354.
    InParanoidi Q96LT7.
    OMAi AQDTIIY.
    OrthoDBi EOG7H1JJZ.
    PhylomeDBi Q96LT7.
    TreeFami TF313315.

    Miscellaneous databases

    GenomeRNAii 203228.
    NextBioi 90368.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96LT7.
    Bgeei Q96LT7.
    CleanExi HS_C9orf72.
    Genevestigatori Q96LT7.

    Family and domain databases

    InterProi IPR027819. C9orf72-like.
    [Graphical view ]
    Pfami PF15019. C9orf72-like. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN FTDALS, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Frontal cortex.
    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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 318-418 (ISOFORM 1).
      Tissue: Brain and Cerebellum.
    3. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(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).
      Tissue: Testis.
    6. "A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD."
      Renton A.E., Majounie E., Waite A., Simon-Sanchez J., Rollinson S., Gibbs J.R., Schymick J.C., Laaksovirta H., van Swieten J.C., Myllykangas L., Kalimo H., Paetau A., Abramzon Y., Remes A.M., Kaganovich A., Scholz S.W., Duckworth J., Ding J.
      , Harmer D.W., Hernandez D.G., Johnson J.O., Mok K., Ryten M., Trabzuni D., Guerreiro R.J., Orrell R.W., Neal J., Murray A., Pearson J., Jansen I.E., Sondervan D., Seelaar H., Blake D., Young K., Halliwell N., Callister J.B., Toulson G., Richardson A., Gerhard A., Snowden J., Mann D., Neary D., Nalls M.A., Peuralinna T., Jansson L., Isoviita V.M., Kaivorinne A.L., Holtta-Vuori M., Ikonen E., Sulkava R., Benatar M., Wuu J., Chio A., Restagno G., Borghero G., Sabatelli M., Heckerman D., Rogaeva E., Zinman L., Rothstein J.D., Sendtner M., Drepper C., Eichler E.E., Alkan C., Abdullaev Z., Pack S.D., Dutra A., Pak E., Hardy J., Singleton A., Williams N.M., Heutink P., Pickering-Brown S., Morris H.R., Tienari P.J., Traynor B.J.
      Neuron 72:257-268(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN FTDALS, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    7. "Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide."
      Garcia-Redondo A., Dols-Icardo O., Rojas-Garcia R., Esteban-Perez J., Cordero-Vazquez P., Munoz-Blanco J.L., Catalina I., Gonzalez-Munoz M., Varona L., Sarasola E., Povedano M., Sevilla T., Guerrero A., Pardo J., de Munain A.L., Marquez-Infante C., de Rivera F.J., Pastor P.
      , Jerico I., de Arcaya A.A., Mora J.S., Clarimon J., Gonzalo-Martinez J.F., Juarez-Rufian A., Atencia G., Jimenez-Bautista R., Moran Y., Mascias J., Hernandez-Barral M., Kapetanovic S., Garcia-Barcina M., Alcala C., Vela A., Ramirez-Ramos C., Galan L., Perez-Tur J., Quintans B., Sobrido M.J., Fernandez-Torron R., Poza J.J., Gorostidi A., Paradas C., Villoslada P., Larrode P., Capablo J.L., Pascual-Calvet J., Goni M., Morgado Y., Guitart M., Moreno-Laguna S., Rueda A., Martin-Estefania C., Cemillan C., Blesa R., Lleo A.
      Hum. Mutat. 34:79-82(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN FTDALS.
    8. "C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking."
      Farg M.A., Sundaramoorthy V., Sultana J.M., Yang S., Atkinson R.A., Levina V., Halloran M.A., Gleeson P.A., Blair I.P., Soo K.Y., King A.E., Atkin J.D.
      Hum. Mol. Genet. 23:3579-3595(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN ENDOSOMAL TRAFFICKING, INTERACTION WITH RAB GTPASES; HNRNPA1; HNRNPA2B1 AND UBQLN2, SUBCELLULAR LOCATION.
    9. Cited for: PATHOLOGICAL MECHANISM.

    Entry informationi

    Entry nameiCI072_HUMAN
    AccessioniPrimary (citable) accession number: Q96LT7
    Secondary accession number(s): A8K5W0
    , D3DRK6, G8I0B6, Q6NUS9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2005
    Last sequence update: July 19, 2005
    Last modified: October 1, 2014
    This is version 86 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 9
      Human chromosome 9: 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

    External Data

    Dasty 3