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Q8NG31

- CASC5_HUMAN

UniProt

Q8NG31 - CASC5_HUMAN

Protein

Protein CASC5

Gene

CASC5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 3 (10 Feb 2009)
      Previous versions | rss
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    Functioni

    Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore.3 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei1818 – 18192Breakpoint for translocation to form KMT2A/MLL1-CASC5

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. acrosome assembly Source: UniProtKB
    2. attachment of spindle microtubules to kinetochore Source: UniProtKB
    3. CENP-A containing nucleosome assembly Source: Reactome
    4. mitotic cell cycle Source: Reactome
    5. mitotic nuclear division Source: UniProtKB-KW
    6. negative regulation of phosphatase activity Source: UniProtKB
    7. nucleosome assembly Source: Reactome
    8. protein localization to kinetochore Source: MGI
    9. spindle assembly checkpoint Source: UniProtKB

    Keywords - Biological processi

    Cell cycle, Cell division, Chromosome partition, Mitosis

    Enzyme and pathway databases

    ReactomeiREACT_150425. Resolution of Sister Chromatid Cohesion.
    REACT_150471. Separation of Sister Chromatids.
    REACT_22186. Deposition of new CENPA-containing nucleosomes at the centromere.
    REACT_682. Mitotic Prometaphase.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein CASC5
    Alternative name(s):
    ALL1-fused gene from chromosome 15q14 protein
    Short name:
    AF15q14
    Bub-linking kinetochore protein
    Short name:
    Blinkin
    Cancer susceptibility candidate gene 5 protein
    Cancer/testis antigen 29
    Short name:
    CT29
    Kinetochore-null protein 1
    Protein D40/AF15q14
    Gene namesi
    Name:CASC5
    Synonyms:KIAA1570, KNL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:24054. CASC5.

    Subcellular locationi

    Nucleus. Chromosomecentromerekinetochore
    Note: Weakly expressed in interphase nuclei. Expression increases from prophase to late anaphase, but greatly diminishes from the telophase and cytokinesis to early G1 phase of cell cycle.

    GO - Cellular componenti

    1. acrosomal vesicle Source: UniProtKB
    2. condensed chromosome kinetochore Source: UniProtKB-SubCell
    3. cytoplasm Source: HPA
    4. cytosol Source: Reactome
    5. extracellular vesicular exosome Source: UniProt
    6. nucleoplasm Source: Reactome
    7. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Centromere, Chromosome, Kinetochore, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving CASC5 is associated with acute myeloblastic leukemia (AML). Translocation t(11;15)(q23;q14) with KMT2A/MLL1. May give rise to a KMT2A/MLL1-CASC5 fusion protein.
    Microcephaly 4, primary, autosomal recessive (MCPH4) [MIM:604321]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2041 – 20411M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. 1 Publication
    VAR_069085

    Keywords - Diseasei

    Disease mutation, Mental retardation, Primary microcephaly

    Organism-specific databases

    MIMi604321. phenotype.
    Orphaneti2512. Autosomal recessive primary microcephaly.
    PharmGKBiPA142672201.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 23422342Protein CASC5PRO_0000089327Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei32 – 321Phosphoserine1 Publication
    Modified residuei60 – 601Phosphoserine1 Publication
    Modified residuei539 – 5391Phosphothreonine1 Publication
    Modified residuei956 – 9561Phosphoserine1 Publication
    Modified residuei1076 – 10761Phosphoserine4 Publications
    Modified residuei1773 – 17731Phosphoserine1 Publication
    Modified residuei1831 – 18311Phosphoserine1 Publication
    Modified residuei1845 – 18451Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8NG31.
    PaxDbiQ8NG31.
    PRIDEiQ8NG31.

    PTM databases

    PhosphoSiteiQ8NG31.

    Expressioni

    Tissue specificityi

    Highly expressed in testis, where it is localized in germ cells, in particular in spermatocytes and in the pre-acrosome of round spermatids. Detected in the acrosome of ejaculated spermatozoa. Detected in adult thymus, bone marrow, colon, small intestine, appendix and placenta, and in fetal liver and thymus.3 Publications

    Gene expression databases

    ArrayExpressiQ8NG31.
    BgeeiQ8NG31.
    CleanExiHS_CASC5.
    GenevestigatoriQ8NG31.

    Organism-specific databases

    HPAiHPA026624.
    HPA049647.

    Interactioni

    Subunit structurei

    Interacts with DSN1, MIS12, BUB1, BUB1B, NSL1 and ZWINT.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PPP1CAP621362EBI-1001161,EBI-357253

    Protein-protein interaction databases

    BioGridi121354. 22 interactions.
    DIPiDIP-36474N.
    IntActiQ8NG31. 12 interactions.
    MINTiMINT-1194225.
    STRINGi9606.ENSP00000335463.

    Structurei

    Secondary structure

    1
    2342
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi205 – 2117
    Helixi241 – 25010
    Helixi2123 – 21308
    Beta strandi2136 – 21405
    Beta strandi2146 – 21516
    Beta strandi2154 – 21629
    Turni2168 – 21703
    Helixi2172 – 21743
    Beta strandi2177 – 21848
    Turni2188 – 21903
    Helixi2193 – 221018
    Turni2213 – 22153
    Helixi2219 – 22213
    Helixi2222 – 224928
    Helixi2250 – 22534
    Beta strandi2255 – 22617
    Beta strandi2264 – 22718
    Turni2272 – 22754
    Beta strandi2276 – 22838
    Turni2286 – 22894
    Beta strandi2295 – 23028
    Helixi2306 – 231510
    Helixi2322 – 233413

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3SI5X-ray2.20X/Y234-252[»]
    4A1GX-ray2.60E/F/G/H176-226[»]
    4NF9X-ray2.80A/B2117-2337[»]
    4NFAX-ray2.50A2131-2337[»]
    ProteinModelPortaliQ8NG31.
    SMRiQ8NG31. Positions 2122-2337.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ8NG31.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati885 – 9891051Add
    BLAST
    Repeati1099 – 12011032Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 728728Interaction with BUB1 and BUB1BAdd
    BLAST
    Regioni855 – 12013472 X 104 AA approximate repeatsAdd
    BLAST
    Regioni1834 – 2316483Necessary for kinetochore localization and for interaction with NSL1 and DSN1Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili1942 – 2133192Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi1789 – 180315Nuclear localization signalSequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiNOG116910.
    HOGENOMiHOG000246954.
    HOVERGENiHBG080986.
    InParanoidiQ8NG31.
    KOiK11542.
    OMAiDDMEITR.
    OrthoDBiEOG7DNNV8.
    PhylomeDBiQ8NG31.
    TreeFamiTF335517.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NG31-1) [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

    MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL     50
    RNKKNSRRVS FADTIKVFQT ESHMKIVRKS EMEGCSAMVP SQLQLLPPGF 100
    KRFSCLSLPE TETGENLLLI QNKKLEDNYC EITGMNTLLS APIHTQMQQK 150
    EFSIIEHTRE RKHANDQTVI FSDENQMDLT SSHTVMITKG LLDNPISEKS 200
    TKIDTTSFLA NLKLHTEDSR MKKEVNFSVD QNTSSENKID FNDFIKRLKT 250
    GKCSAFPDVP DKENFEIPIY SKEPNSASST HQMHVSLKED ENNSNITRLF 300
    REKDDGMNFT QCHTANIQTL IPTSSETNSR ESKGNDITIY GNDFMDLTFN 350
    HTLQILPATG NFSEIENQTQ NAMDVTTGYG TKASGNKTVF KSKQNTAFQD 400
    LSINSADKIH ITRSHIMGAE THIVSQTCNQ DARILAMTPE SIYSNPSIQG 450
    CKTVFYSSCN DAMEMTKCLS NMREEKNLLK HDSNYAKMYC NPDAMSSLTE 500
    KTIYSGEENM DITKSHTVAI DNQIFKQDQS NVQIAAAPTP EKEMMLQNLM 550
    TTSEDGKMNV NCNSVPHVSK ERIQQSLSNP LSISLTDRKT ELLSGENMDL 600
    TESHTSNLGS QVPLAAYNLA PESTSESHSQ SKSSSDECEE ITKSRNEPFQ 650
    RSDIIAKNSL TDTWNKDKDW VLKILPYLDK DSPQSADCNQ EIATSHNIVY 700
    CGGVLDKQIT NRNTVSWEQS LFSTTKPLFS SGQFSMKNHD TAISSHTVKS 750
    VLGQNSKLAE PLRKSLSNPT PDYCHDKMII CSEEEQNMDL TKSHTVVIGF 800
    GPSELQELGK TNLEHTTGQL TTMNRQIAVK VEKCGKSPIE KSGVLKSNCI 850
    MDVLEDESVQ KPKFPKEKQN VKIWGRKSVG GPKIDKTIVF SEDDKNDMDI 900
    TKSYTIEINH RPLLEKRDCH LVPLAGTSET ILYTCRQDDM EITRSHTTAL 950
    ECKTVSPDEI TTRPMDKTVV FVDNHVELEM TESHTVFIDY QEKERTDRPN 1000
    FELSQRKSLG TPTVICTPTE ESVFFPGNGE SDRLVANDSQ LTPLEEWSNN 1050
    RGPVEVADNM ELSKSATCKN IKDVQSPGFL NEPLSSKSQR RKSLKLKNDK 1100
    TIVFSENHKN DMDITQSCMV EIDNESALED KEDFHLAGAS KTILYSCGQD 1150
    DMEITRSHTT ALECKTLLPN EIAIRPMDKT VLFTDNYSDL EVTDSHTVFI 1200
    DCQATEKILE ENPKFGIGKG KNLGVSFPKD NSCVQEIAEK QALAVGNKIV 1250
    LHTEQKQQLF AATNRTTNEI IKFHSAAMDE KVIGKVVDQA CTLEKAQVES 1300
    CQLNNRDRRN VDFTSSHATA VCGSSDNYSC LPNVISCTDN LEGSAMLLCD 1350
    KDEEKANYCP VQNDLAYAND FASEYYLESE GQPLSAPCPL LEKEEVIQTS 1400
    TKGQLDCVIT LHKDQDLIKD PRNLLANQTL VYSQDLGEMT KLNSKRVSFK 1450
    LPKDQMKVYV DDIYVIPQPH FSTDQPPLPK KGQSSINKEE VILSKAGNKS 1500
    LNIIENSSAP ICENKPKILN SEEWFAAACK KELKENIQTT NYNTALDFHS 1550
    NSDVTKQVIQ THVNAGEAPD PVITSNVPCF HSIKPNLNNL NGKTGEFLAF 1600
    QTVHLPPLPE QLLELGNKAH NDMHIVQATE IHNINIISSN AKDSRDEENK 1650
    KSHNGAETTS LPPKTVFKDK VRRCSLGIFL PRLPNKRNCS VTGIDDLEQI 1700
    PADTTDINHL ETQPVSSKDS GIGSVAGKLN LSPSQYINEE NLPVYPDEIN 1750
    SSDSINIETE EKALIETYQK EISPYENKMG KTCNSQKRTW VQEEEDIHKE 1800
    KKIRKNEIKF SDTTQDREIF DHHTEEDIDK SANSVLIKNL SRTPSSCSSS 1850
    LDSIKADGTS LDFSTYRSSQ MESQFLRDTI CEESLREKLQ DGRITIREFF 1900
    ILLQVHILIQ KPRQSNLPGN FTVNTPPTPE DLMLSQYVYR PKIQIYREDC 1950
    EARRQKIEEL KLSASNQDKL LVDINKNLWE KMRHCSDKEL KAFGIYLNKI 2000
    KSCFTKMTKV FTHQGKVALY GKLVQSAQNE REKLQIKIDE MDKILKKIDN 2050
    CLTEMETETK NLEDEEKNNP VEEWDSEMRA AEKELEQLKT EEEELQRNLL 2100
    ELEVQKEQTL AQIDFMQKQR NRTEELLDQL SLSEWDVVEW SDDQAVFTFV 2150
    YDTIQLTITF EESVVGFPFL DKRYRKIVDV NFQSLLDEDQ APPSSLLVHK 2200
    LIFQYVEEKE SWKKTCTTQH QLPKMLEEFS LVVHHCRLLG EEIEYLKRWG 2250
    PNYNLMNIDI NNNELRLLFS SSAAFAKFEI TLFLSAYYPS VPLPSTIQNH 2300
    VGNTSQDDIA TILSKVPLEN NYLKNVVKQI YQDLFQDCHF YH 2342
    Length:2,342
    Mass (Da):265,391
    Last modified:February 10, 2009 - v3
    Checksum:i8E29150CA4F5B5C1
    GO
    Isoform 2 (identifier: Q8NG31-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         84-109: Missing.

    Show »
    Length:2,316
    Mass (Da):262,632
    Checksum:iA04548DF87BCA275
    GO
    Isoform 3 (identifier: Q8NG31-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         84-109: Missing.
         1764-1772: LIETYQKEI → VGTRRRRYS
         1773-2342: Missing.

    Show »
    Length:1,746
    Mass (Da):195,604
    Checksum:i3D0CEE718D1D2370
    GO
    Isoform 4 (identifier: Q8NG31-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         84-109: Missing.
         1819-1859: IFDHHTEEDI...SLDSIKADGT → VSSVLNQRMF...SGRQKIIIST
         1860-2342: Missing.

    Show »
    Length:1,833
    Mass (Da):205,826
    Checksum:iCB7FF1D71B561F62
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti37 – 371L → H in AAM45143. (PubMed:12618768)Curated
    Sequence conflicti1332 – 13321P → A in BAC05691. (PubMed:12087463)Curated
    Sequence conflicti1357 – 13571N → H in BAC05691. (PubMed:12087463)Curated
    Sequence conflicti1756 – 17561N → Y in BAC05691. (PubMed:12087463)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti43 – 431R → T.1 Publication
    Corresponds to variant rs7177192 [ dbSNP | Ensembl ].
    VAR_026428
    Natural varianti70 – 701T → A.
    Corresponds to variant rs16970874 [ dbSNP | Ensembl ].
    VAR_026429
    Natural varianti113 – 1131T → A.1 Publication
    Corresponds to variant rs12911738 [ dbSNP | Ensembl ].
    VAR_026430
    Natural varianti177 – 1771M → V.
    Corresponds to variant rs35146555 [ dbSNP | Ensembl ].
    VAR_061568
    Natural varianti486 – 4861A → S.2 Publications
    Corresponds to variant rs2412541 [ dbSNP | Ensembl ].
    VAR_026431
    Natural varianti598 – 5981M → T.4 Publications
    Corresponds to variant rs11858113 [ dbSNP | Ensembl ].
    VAR_054342
    Natural varianti936 – 9361R → G.3 Publications
    Corresponds to variant rs8040502 [ dbSNP | Ensembl ].
    VAR_026432
    Natural varianti1190 – 11901L → V.
    Corresponds to variant rs58614880 [ dbSNP | Ensembl ].
    VAR_061569
    Natural varianti1285 – 12851K → E.1 Publication
    Corresponds to variant rs17747633 [ dbSNP | Ensembl ].
    VAR_026433
    Natural varianti1473 – 14731T → A.1 Publication
    Corresponds to variant rs16970911 [ dbSNP | Ensembl ].
    VAR_026434
    Natural varianti2041 – 20411M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. 1 Publication
    VAR_069085
    Natural varianti2338 – 23381C → Y.
    Corresponds to variant rs61164860 [ dbSNP | Ensembl ].
    VAR_061570

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei84 – 10926Missing in isoform 2, isoform 3 and isoform 4. 2 PublicationsVSP_013795Add
    BLAST
    Alternative sequencei1764 – 17729LIETYQKEI → VGTRRRRYS in isoform 3. 1 PublicationVSP_013796
    Alternative sequencei1773 – 2342570Missing in isoform 3. 1 PublicationVSP_013797Add
    BLAST
    Alternative sequencei1819 – 185941IFDHH…KADGT → VSSVLNQRMFLNFGFCFVFL NCGYSQILILVSGRQKIIIS T in isoform 4. 1 PublicationVSP_018524Add
    BLAST
    Alternative sequencei1860 – 2342483Missing in isoform 4. 1 PublicationVSP_018525Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF248041 mRNA. Translation: AAF97513.1.
    AF461041 mRNA. Translation: AAL67803.1.
    AB022190 mRNA. Translation: BAC05691.1.
    AF173994 mRNA. Translation: AAM45143.1.
    AC022405 Genomic DNA. No translation available.
    AB046790 mRNA. Translation: BAB13396.1.
    CCDSiCCDS42023.1. [Q8NG31-1]
    CCDS42024.1. [Q8NG31-2]
    RefSeqiNP_653091.3. NM_144508.4. [Q8NG31-2]
    NP_733468.3. NM_170589.4. [Q8NG31-1]
    UniGeneiHs.181855.

    Genome annotation databases

    EnsembliENST00000346991; ENSP00000335463; ENSG00000137812. [Q8NG31-1]
    ENST00000399668; ENSP00000382576; ENSG00000137812. [Q8NG31-2]
    GeneIDi57082.
    KEGGihsa:57082.
    UCSCiuc001zme.3. human. [Q8NG31-4]
    uc010bbs.1. human. [Q8NG31-1]
    uc010bbt.1. human. [Q8NG31-2]

    Polymorphism databases

    DMDMi223590239.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF248041 mRNA. Translation: AAF97513.1 .
    AF461041 mRNA. Translation: AAL67803.1 .
    AB022190 mRNA. Translation: BAC05691.1 .
    AF173994 mRNA. Translation: AAM45143.1 .
    AC022405 Genomic DNA. No translation available.
    AB046790 mRNA. Translation: BAB13396.1 .
    CCDSi CCDS42023.1. [Q8NG31-1 ]
    CCDS42024.1. [Q8NG31-2 ]
    RefSeqi NP_653091.3. NM_144508.4. [Q8NG31-2 ]
    NP_733468.3. NM_170589.4. [Q8NG31-1 ]
    UniGenei Hs.181855.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3SI5 X-ray 2.20 X/Y 234-252 [» ]
    4A1G X-ray 2.60 E/F/G/H 176-226 [» ]
    4NF9 X-ray 2.80 A/B 2117-2337 [» ]
    4NFA X-ray 2.50 A 2131-2337 [» ]
    ProteinModelPortali Q8NG31.
    SMRi Q8NG31. Positions 2122-2337.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121354. 22 interactions.
    DIPi DIP-36474N.
    IntActi Q8NG31. 12 interactions.
    MINTi MINT-1194225.
    STRINGi 9606.ENSP00000335463.

    PTM databases

    PhosphoSitei Q8NG31.

    Polymorphism databases

    DMDMi 223590239.

    Proteomic databases

    MaxQBi Q8NG31.
    PaxDbi Q8NG31.
    PRIDEi Q8NG31.

    Protocols and materials databases

    DNASUi 57082.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000346991 ; ENSP00000335463 ; ENSG00000137812 . [Q8NG31-1 ]
    ENST00000399668 ; ENSP00000382576 ; ENSG00000137812 . [Q8NG31-2 ]
    GeneIDi 57082.
    KEGGi hsa:57082.
    UCSCi uc001zme.3. human. [Q8NG31-4 ]
    uc010bbs.1. human. [Q8NG31-1 ]
    uc010bbt.1. human. [Q8NG31-2 ]

    Organism-specific databases

    CTDi 57082.
    GeneCardsi GC15P040886.
    GeneReviewsi CASC5.
    HGNCi HGNC:24054. CASC5.
    HPAi HPA026624.
    HPA049647.
    MIMi 604321. phenotype.
    609173. gene.
    neXtProti NX_Q8NG31.
    Orphaneti 2512. Autosomal recessive primary microcephaly.
    PharmGKBi PA142672201.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG116910.
    HOGENOMi HOG000246954.
    HOVERGENi HBG080986.
    InParanoidi Q8NG31.
    KOi K11542.
    OMAi DDMEITR.
    OrthoDBi EOG7DNNV8.
    PhylomeDBi Q8NG31.
    TreeFami TF335517.

    Enzyme and pathway databases

    Reactomei REACT_150425. Resolution of Sister Chromatid Cohesion.
    REACT_150471. Separation of Sister Chromatids.
    REACT_22186. Deposition of new CENPA-containing nucleosomes at the centromere.
    REACT_682. Mitotic Prometaphase.

    Miscellaneous databases

    EvolutionaryTracei Q8NG31.
    GeneWikii CASC5.
    GenomeRNAii 57082.
    NextBioi 62865.
    PROi Q8NG31.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NG31.
    Bgeei Q8NG31.
    CleanExi HS_CASC5.
    Genevestigatori Q8NG31.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14)."
      Hayette S., Tigaud I., Vanier A., Martel S., Corbo L., Charrin C., Beillard E., Deleage G., Magaud J.-P., Rimokh R.
      Oncogene 19:4446-4450(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4), CHROMOSOMAL TRANSLOCATION WITH KMT2A/MLL1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS SER-486; THR-598; GLY-936; GLU-1285 AND ALA-1473.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, VARIANTS THR-43; ALA-113; SER-486; THR-598 AND GLY-936.
      Tissue: Testis.
    3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION WITH KMT2A/MLL1, TISSUE SPECIFICITY, VARIANTS THR-598 AND GLY-936.
    4. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] OF 983-2342.
      Tissue: Brain.
    6. "A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15."
      Chinwalla V., Chien A., Odero M., Neilly M.B., Zeleznik-Le N.J., Rowley J.D.
      Oncogene 22:1400-1410(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION WITH KMT2A/MLL1.
    7. "A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1."
      Obuse C., Iwasaki O., Kiyomitsu T., Goshima G., Toyoda Y., Yanagida M.
      Nat. Cell Biol. 6:1135-1141(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DSN1 AND MIS12, IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION.
    8. "The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa."
      Sasao T., Itoh N., Takano H., Watanabe S., Wei G., Tsukamoto T., Kuzumaki N., Takimoto M.
      Reproduction 128:709-716(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    9. "Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1."
      Kiyomitsu T., Obuse C., Yanagida M.
      Dev. Cell 13:663-676(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH BUB1; BUB1B; NSL1; DSN1 AND ZWINT.
    10. "KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates."
      Cheeseman I.M., Hori T., Fukagawa T., Desai A.
      Mol. Biol. Cell 19:587-594(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    11. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1076, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-32; SER-60; SER-1076; SER-1773 AND SER-1845, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: SUBCELLULAR LOCATION.
    14. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1076, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    15. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-539; SER-956; SER-1076 AND SER-1831, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    16. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-598.
    17. Cited for: VARIANT MCPH4 ILE-2041.

    Entry informationi

    Entry nameiCASC5_HUMAN
    AccessioniPrimary (citable) accession number: Q8NG31
    Secondary accession number(s): Q8NHE1
    , Q8WXA6, Q9HCK2, Q9NR92
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 24, 2005
    Last sequence update: February 10, 2009
    Last modified: October 1, 2014
    This is version 102 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references

    External Data

    Dasty 3