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Q8NG31 (CASC5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:CASC5
Synonyms:KIAA1570, KNL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2342 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.7 Ref.9 Ref.10

Subunit structure

Interacts with DSN1, MIS12, BUB1, BUB1B, NSL1 and ZWINT. Ref.7 Ref.9

Subcellular location

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. Ref.1 Ref.8 Ref.9 Ref.10 Ref.13

Tissue specificity

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. Ref.1 Ref.2 Ref.3

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17

Ontologies

Keywords
   Biological processCell cycle
Cell division
Chromosome partition
Mitosis
   Cellular componentCentromere
Chromosome
Kinetochore
Nucleus
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DiseaseDisease mutation
Mental retardation
Primary microcephaly
   DomainCoiled coil
Repeat
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processacrosome assembly

Non-traceable author statement Ref.8. Source: UniProtKB

attachment of spindle microtubules to kinetochore

Inferred from direct assay Ref.9. Source: UniProtKB

centromere-specific nucleosome assembly

Traceable author statement. Source: Reactome

mitotic cell cycle

Traceable author statement. Source: Reactome

mitotic nuclear division

Inferred from electronic annotation. Source: UniProtKB-KW

negative regulation of phosphatase activity

Inferred from direct assay PubMed 19389623. Source: UniProtKB

nucleosome assembly

Traceable author statement. Source: Reactome

protein localization to kinetochore

Inferred from direct assay PubMed 22331848. Source: MGI

spindle assembly checkpoint

Inferred from direct assay Ref.9. Source: UniProtKB

   Cellular_componentacrosomal vesicle

Inferred from direct assay Ref.8. Source: UniProtKB

condensed chromosome kinetochore

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytoplasm

Inferred from direct assay. Source: HPA

cytosol

Traceable author statement. Source: Reactome

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay Ref.1. Source: UniProtKB

   Molecular_functionprotein binding

Inferred from physical interaction Ref.7Ref.9. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PPP1CAP621362EBI-1001161,EBI-357253

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NG31-1)

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.
Isoform 2 (identifier: Q8NG31-2)

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: Missing.
Isoform 3 (identifier: Q8NG31-3)

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: Missing.
     1764-1772: LIETYQKEI → VGTRRRRYS
     1773-2342: Missing.
Isoform 4 (identifier: Q8NG31-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 23422342Protein CASC5
PRO_0000089327

Regions

Repeat885 – 9891051
Repeat1099 – 12011032
Region1 – 728728Interaction with BUB1 and BUB1B
Region855 – 12013472 X 104 AA approximate repeats
Region1834 – 2316483Necessary for kinetochore localization and for interaction with NSL1 and DSN1
Coiled coil1942 – 2133192 Potential
Motif1789 – 180315Nuclear localization signal Potential

Sites

Site1818 – 18192Breakpoint for translocation to form KMT2A/MLL1-CASC5

Amino acid modifications

Modified residue321Phosphoserine Ref.12
Modified residue601Phosphoserine Ref.12
Modified residue5391Phosphothreonine Ref.15
Modified residue9561Phosphoserine Ref.15
Modified residue10761Phosphoserine Ref.11 Ref.12 Ref.14 Ref.15
Modified residue17731Phosphoserine Ref.12
Modified residue18311Phosphoserine Ref.15
Modified residue18451Phosphoserine Ref.12

Natural variations

Alternative sequence84 – 10926Missing in isoform 2, isoform 3 and isoform 4.
VSP_013795
Alternative sequence1764 – 17729LIETYQKEI → VGTRRRRYS in isoform 3.
VSP_013796
Alternative sequence1773 – 2342570Missing in isoform 3.
VSP_013797
Alternative sequence1819 – 185941IFDHH…KADGT → VSSVLNQRMFLNFGFCFVFL NCGYSQILILVSGRQKIIIS T in isoform 4.
VSP_018524
Alternative sequence1860 – 2342483Missing in isoform 4.
VSP_018525
Natural variant431R → T. Ref.2
Corresponds to variant rs7177192 [ dbSNP | Ensembl ].
VAR_026428
Natural variant701T → A.
Corresponds to variant rs16970874 [ dbSNP | Ensembl ].
VAR_026429
Natural variant1131T → A. Ref.2
Corresponds to variant rs12911738 [ dbSNP | Ensembl ].
VAR_026430
Natural variant1771M → V.
Corresponds to variant rs35146555 [ dbSNP | Ensembl ].
VAR_061568
Natural variant4861A → S. Ref.1 Ref.2
Corresponds to variant rs2412541 [ dbSNP | Ensembl ].
VAR_026431
Natural variant5981M → T. Ref.1 Ref.2 Ref.3 Ref.16
Corresponds to variant rs11858113 [ dbSNP | Ensembl ].
VAR_054342
Natural variant9361R → G. Ref.1 Ref.2 Ref.3
Corresponds to variant rs8040502 [ dbSNP | Ensembl ].
VAR_026432
Natural variant11901L → V.
Corresponds to variant rs58614880 [ dbSNP | Ensembl ].
VAR_061569
Natural variant12851K → E. Ref.1
Corresponds to variant rs17747633 [ dbSNP | Ensembl ].
VAR_026433
Natural variant14731T → A. Ref.1
Corresponds to variant rs16970911 [ dbSNP | Ensembl ].
VAR_026434
Natural variant20411M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. Ref.17
VAR_069085
Natural variant23381C → Y.
Corresponds to variant rs61164860 [ dbSNP | Ensembl ].
VAR_061570

Experimental info

Sequence conflict371L → H in AAM45143. Ref.3
Sequence conflict13321P → A in BAC05691. Ref.2
Sequence conflict13571N → H in BAC05691. Ref.2
Sequence conflict17561N → Y in BAC05691. Ref.2

Secondary structure

........................................... 2342
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 10, 2009. Version 3.
Checksum: 8E29150CA4F5B5C1

FASTA2,342265,391
        10         20         30         40         50         60 
MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS 

        70         80         90        100        110        120 
FADTIKVFQT ESHMKIVRKS EMEGCSAMVP SQLQLLPPGF KRFSCLSLPE TETGENLLLI 

       130        140        150        160        170        180 
QNKKLEDNYC EITGMNTLLS APIHTQMQQK EFSIIEHTRE RKHANDQTVI FSDENQMDLT 

       190        200        210        220        230        240 
SSHTVMITKG LLDNPISEKS TKIDTTSFLA NLKLHTEDSR MKKEVNFSVD QNTSSENKID 

       250        260        270        280        290        300 
FNDFIKRLKT GKCSAFPDVP DKENFEIPIY SKEPNSASST HQMHVSLKED ENNSNITRLF 

       310        320        330        340        350        360 
REKDDGMNFT QCHTANIQTL IPTSSETNSR ESKGNDITIY GNDFMDLTFN HTLQILPATG 

       370        380        390        400        410        420 
NFSEIENQTQ NAMDVTTGYG TKASGNKTVF KSKQNTAFQD LSINSADKIH ITRSHIMGAE 

       430        440        450        460        470        480 
THIVSQTCNQ DARILAMTPE SIYSNPSIQG CKTVFYSSCN DAMEMTKCLS NMREEKNLLK 

       490        500        510        520        530        540 
HDSNYAKMYC NPDAMSSLTE KTIYSGEENM DITKSHTVAI DNQIFKQDQS NVQIAAAPTP 

       550        560        570        580        590        600 
EKEMMLQNLM TTSEDGKMNV NCNSVPHVSK ERIQQSLSNP LSISLTDRKT ELLSGENMDL 

       610        620        630        640        650        660 
TESHTSNLGS QVPLAAYNLA PESTSESHSQ SKSSSDECEE ITKSRNEPFQ RSDIIAKNSL 

       670        680        690        700        710        720 
TDTWNKDKDW VLKILPYLDK DSPQSADCNQ EIATSHNIVY CGGVLDKQIT NRNTVSWEQS 

       730        740        750        760        770        780 
LFSTTKPLFS SGQFSMKNHD TAISSHTVKS VLGQNSKLAE PLRKSLSNPT PDYCHDKMII 

       790        800        810        820        830        840 
CSEEEQNMDL TKSHTVVIGF GPSELQELGK TNLEHTTGQL TTMNRQIAVK VEKCGKSPIE 

       850        860        870        880        890        900 
KSGVLKSNCI MDVLEDESVQ KPKFPKEKQN VKIWGRKSVG GPKIDKTIVF SEDDKNDMDI 

       910        920        930        940        950        960 
TKSYTIEINH RPLLEKRDCH LVPLAGTSET ILYTCRQDDM EITRSHTTAL ECKTVSPDEI 

       970        980        990       1000       1010       1020 
TTRPMDKTVV FVDNHVELEM TESHTVFIDY QEKERTDRPN FELSQRKSLG TPTVICTPTE 

      1030       1040       1050       1060       1070       1080 
ESVFFPGNGE SDRLVANDSQ LTPLEEWSNN RGPVEVADNM ELSKSATCKN IKDVQSPGFL 

      1090       1100       1110       1120       1130       1140 
NEPLSSKSQR RKSLKLKNDK TIVFSENHKN DMDITQSCMV EIDNESALED KEDFHLAGAS 

      1150       1160       1170       1180       1190       1200 
KTILYSCGQD DMEITRSHTT ALECKTLLPN EIAIRPMDKT VLFTDNYSDL EVTDSHTVFI 

      1210       1220       1230       1240       1250       1260 
DCQATEKILE ENPKFGIGKG KNLGVSFPKD NSCVQEIAEK QALAVGNKIV LHTEQKQQLF 

      1270       1280       1290       1300       1310       1320 
AATNRTTNEI IKFHSAAMDE KVIGKVVDQA CTLEKAQVES CQLNNRDRRN VDFTSSHATA 

      1330       1340       1350       1360       1370       1380 
VCGSSDNYSC LPNVISCTDN LEGSAMLLCD KDEEKANYCP VQNDLAYAND FASEYYLESE 

      1390       1400       1410       1420       1430       1440 
GQPLSAPCPL LEKEEVIQTS TKGQLDCVIT LHKDQDLIKD PRNLLANQTL VYSQDLGEMT 

      1450       1460       1470       1480       1490       1500 
KLNSKRVSFK LPKDQMKVYV DDIYVIPQPH FSTDQPPLPK KGQSSINKEE VILSKAGNKS 

      1510       1520       1530       1540       1550       1560 
LNIIENSSAP ICENKPKILN SEEWFAAACK KELKENIQTT NYNTALDFHS NSDVTKQVIQ 

      1570       1580       1590       1600       1610       1620 
THVNAGEAPD PVITSNVPCF HSIKPNLNNL NGKTGEFLAF QTVHLPPLPE QLLELGNKAH 

      1630       1640       1650       1660       1670       1680 
NDMHIVQATE IHNINIISSN AKDSRDEENK KSHNGAETTS LPPKTVFKDK VRRCSLGIFL 

      1690       1700       1710       1720       1730       1740 
PRLPNKRNCS VTGIDDLEQI PADTTDINHL ETQPVSSKDS GIGSVAGKLN LSPSQYINEE 

      1750       1760       1770       1780       1790       1800 
NLPVYPDEIN SSDSINIETE EKALIETYQK EISPYENKMG KTCNSQKRTW VQEEEDIHKE 

      1810       1820       1830       1840       1850       1860 
KKIRKNEIKF SDTTQDREIF DHHTEEDIDK SANSVLIKNL SRTPSSCSSS LDSIKADGTS 

      1870       1880       1890       1900       1910       1920 
LDFSTYRSSQ MESQFLRDTI CEESLREKLQ DGRITIREFF ILLQVHILIQ KPRQSNLPGN 

      1930       1940       1950       1960       1970       1980 
FTVNTPPTPE DLMLSQYVYR PKIQIYREDC EARRQKIEEL KLSASNQDKL LVDINKNLWE 

      1990       2000       2010       2020       2030       2040 
KMRHCSDKEL KAFGIYLNKI KSCFTKMTKV FTHQGKVALY GKLVQSAQNE REKLQIKIDE 

      2050       2060       2070       2080       2090       2100 
MDKILKKIDN CLTEMETETK NLEDEEKNNP VEEWDSEMRA AEKELEQLKT EEEELQRNLL 

      2110       2120       2130       2140       2150       2160 
ELEVQKEQTL AQIDFMQKQR NRTEELLDQL SLSEWDVVEW SDDQAVFTFV YDTIQLTITF 

      2170       2180       2190       2200       2210       2220 
EESVVGFPFL DKRYRKIVDV NFQSLLDEDQ APPSSLLVHK LIFQYVEEKE SWKKTCTTQH 

      2230       2240       2250       2260       2270       2280 
QLPKMLEEFS LVVHHCRLLG EEIEYLKRWG PNYNLMNIDI NNNELRLLFS SSAAFAKFEI 

      2290       2300       2310       2320       2330       2340 
TLFLSAYYPS VPLPSTIQNH VGNTSQDDIA TILSKVPLEN NYLKNVVKQI YQDLFQDCHF 


YH 

« Hide

Isoform 2 [UniParc].

Checksum: A04548DF87BCA275
Show »

FASTA2,316262,632
Isoform 3 [UniParc].

Checksum: 3D0CEE718D1D2370
Show »

FASTA1,746195,604
Isoform 4 [UniParc].

Checksum: CB7FF1D71B561F62
Show »

FASTA1,833205,826

References

« Hide 'large scale' references
[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]"Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancer of smokers."
Takimoto M., Wei G., Dosaka-Akita H., Mao P., Kondo S., Sakuragi N., Chiba I., Miura T., Itoh N., Sasao T., Koya R.C., Tsukamoto T., Fujimoto S., Kato H., Kuzumaki N.
Br. J. Cancer 86:1757-1762(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, VARIANTS THR-43; ALA-113; SER-486; THR-598 AND GLY-936.
Tissue: Testis.
[3]"Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14)."
Kuefer M.U., Chinwalla V., Zeleznik-Le N.J., Behm F.G., Naeve C.W., Rakestraw K.M., Mukatira S.T., Raimondi S.C., Morris S.W.
Oncogene 22:1418-1424(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Protein architecture of the human kinetochore microtubule attachment site."
Wan X., O'Quinn R.P., Pierce H.L., Joglekar A.P., Gall W.E., DeLuca J.G., Carroll C.W., Liu S.-T., Yen T.J., McEwen B.F., Stukenberg P.T., Desai A., Salmon E.D.
Cell 137:672-684(2009) [PubMed] [Europe PMC] [Abstract]
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]"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S. expand/collapse author list , Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K.
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-598.
[17]"Kinetochore KMN network gene CASC5 mutated in primary microcephaly."
Genin A., Desir J., Lambert N., Biervliet M., Van Der Aa N., Pierquin G., Killian A., Tosi M., Urbina M., Lefort A., Libert F., Pirson I., Abramowicz M.
Hum. Mol. Genet. 21:5306-5317(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MCPH4 ILE-2041.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS42023.1. [Q8NG31-1]
CCDS42024.1. [Q8NG31-2]
RefSeqNP_653091.3. NM_144508.4. [Q8NG31-2]
NP_733468.3. NM_170589.4. [Q8NG31-1]
UniGeneHs.181855.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3SI5X-ray2.20X/Y234-252[»]
4A1GX-ray2.60E/F/G/H176-226[»]
4NF9X-ray2.80A/B2117-2337[»]
4NFAX-ray2.50A2131-2337[»]
ProteinModelPortalQ8NG31.
SMRQ8NG31. Positions 2122-2337.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121354. 22 interactions.
DIPDIP-36474N.
IntActQ8NG31. 12 interactions.
MINTMINT-1194225.
STRING9606.ENSP00000335463.

PTM databases

PhosphoSiteQ8NG31.

Polymorphism databases

DMDM223590239.

Proteomic databases

MaxQBQ8NG31.
PaxDbQ8NG31.
PRIDEQ8NG31.

Protocols and materials databases

DNASU57082.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000346991; ENSP00000335463; ENSG00000137812. [Q8NG31-1]
ENST00000399668; ENSP00000382576; ENSG00000137812. [Q8NG31-2]
GeneID57082.
KEGGhsa:57082.
UCSCuc001zme.3. human. [Q8NG31-4]
uc010bbs.1. human. [Q8NG31-1]
uc010bbt.1. human. [Q8NG31-2]

Organism-specific databases

CTD57082.
GeneCardsGC15P040886.
GeneReviewsCASC5.
HGNCHGNC:24054. CASC5.
HPAHPA026624.
HPA049647.
MIM604321. phenotype.
609173. gene.
neXtProtNX_Q8NG31.
Orphanet2512. Autosomal recessive primary microcephaly.
PharmGKBPA142672201.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG116910.
HOGENOMHOG000246954.
HOVERGENHBG080986.
InParanoidQ8NG31.
KOK11542.
OMADDMEITR.
OrthoDBEOG7DNNV8.
PhylomeDBQ8NG31.
TreeFamTF335517.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.
REACT_21300. Mitotic M-M/G1 phases.

Gene expression databases

ArrayExpressQ8NG31.
BgeeQ8NG31.
CleanExHS_CASC5.
GenevestigatorQ8NG31.

Family and domain databases

ProtoNetSearch...

Other

EvolutionaryTraceQ8NG31.
GeneWikiCASC5.
GenomeRNAi57082.
NextBio62865.
PROQ8NG31.
SOURCESearch...

Entry information

Entry nameCASC5_HUMAN
AccessionPrimary (citable) accession number: Q8NG31
Secondary accession number(s): Q8NHE1 expand/collapse secondary AC list , Q8WXA6, Q9HCK2, Q9NR92
Entry history
Integrated into UniProtKB/Swiss-Prot: May 24, 2005
Last sequence update: February 10, 2009
Last modified: July 9, 2014
This is version 100 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM