Q8NG31 (CASC5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	CASC5
Synonyms:	KIAA1570, KNL1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2342 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Chromosome › centromere › kinetochore. 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 MLL/HRX. May give rise to a MLL-CASC5 fusion protein. Microcephaly, primary, 4 (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 process	Cell cycle Cell division Chromosome partition Mitosis
Cellular component	Centromere Chromosome Kinetochore Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Disease mutation Mental retardation Primary microcephaly
Domain	Coiled coil Repeat
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	CENP-A containing nucleosome assembly at centromere Traceable author statement. Source: Reactome acrosome assembly Non-traceable author statement Ref.8. Source: UniProtKB attachment of spindle microtubules to kinetochore Inferred from direct assay Ref.9. Source: UniProtKB cell division Inferred from electronic annotation. Source: UniProtKB-KW mitotic prometaphase Traceable author statement. Source: Reactome negative regulation of phosphatase activity Inferred from direct assay PubMed 19389623. Source: UniProtKB protein localization to kinetochore Inferred from direct assay PubMed 22331848. Source: MGI spindle assembly checkpoint Inferred from direct assay Ref.9. Source: UniProtKB
Cellular_component	acrosomal vesicle Inferred from direct assay Ref.8. Source: UniProtKB condensed chromosome kinetochore Inferred from electronic annotation. Source: UniProtKB-SubCell cytosol Traceable author statement. Source: Reactome nucleoplasm Traceable author statement. Source: Reactome
Complete GO annotation...

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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 2342

2342

Protein CASC5

PRO_0000089327

Regions

Repeat

885 – 989

105

1

Repeat

1099 – 1201

103

2

Region

1 – 728

728

Interaction with BUB1 and BUB1B

Region

855 – 1201

347

2 X 104 AA approximate repeats

Region

1834 – 2316

483

Necessary for kinetochore localization and for interaction with NSL1 and DSN1

Coiled coil

1942 – 2133

192

Potential

Motif

1789 – 1803

15

Nuclear localization signal Potential

Sites

Site

1818 – 1819

2

Breakpoint for translocation to form MLL-CASC5

Amino acid modifications

Modified residue

32

1

Phosphoserine Ref.12

Modified residue

60

1

Phosphoserine Ref.12

Modified residue

539

1

Phosphothreonine Ref.15

Modified residue

956

1

Phosphoserine Ref.15

Modified residue

1076

1

Phosphoserine Ref.11 Ref.12 Ref.14 Ref.15

Modified residue

1773

1

Phosphoserine Ref.12

Modified residue

1831

1

Phosphoserine Ref.15

Modified residue

1845

1

Phosphoserine Ref.12

Natural variations

Alternative sequence

84 – 109

26

Missing in isoform 2, isoform 3 and isoform 4.

VSP_013795

Alternative sequence

1764 – 1772

9

LIETYQKEI → VGTRRRRYS in isoform 3.

VSP_013796

Alternative sequence

1773 – 2342

570

Missing in isoform 3.

VSP_013797

Alternative sequence

1819 – 1859

41

IFDHH…KADGT → VSSVLNQRMFLNFGFCFVFL NCGYSQILILVSGRQKIIIS T in isoform 4.

VSP_018524

Alternative sequence

1860 – 2342

483

Missing in isoform 4.

VSP_018525

Natural variant

43

1

R → T. Ref.2
Corresponds to variant rs7177192 [ dbSNP | Ensembl ].

VAR_026428

Natural variant

70

1

T → A.
Corresponds to variant rs16970874 [ dbSNP | Ensembl ].

VAR_026429

Natural variant

113

1

T → A. Ref.2
Corresponds to variant rs12911738 [ dbSNP | Ensembl ].

VAR_026430

Natural variant

177

1

M → V.
Corresponds to variant rs35146555 [ dbSNP | Ensembl ].

VAR_061568

Natural variant

486

1

A → S. Ref.1 Ref.2
Corresponds to variant rs2412541 [ dbSNP | Ensembl ].

VAR_026431

Natural variant

598

1

M → T. Ref.1 Ref.2 Ref.3 Ref.16
Corresponds to variant rs11858113 [ dbSNP | Ensembl ].

VAR_054342

Natural variant

936

1

R → G. Ref.1 Ref.2 Ref.3
Corresponds to variant rs8040502 [ dbSNP | Ensembl ].

VAR_026432

Natural variant

1190

1

L → V.
Corresponds to variant rs58614880 [ dbSNP | Ensembl ].

VAR_061569

Natural variant

1285

1

K → E. Ref.1
Corresponds to variant rs17747633 [ dbSNP | Ensembl ].

VAR_026433

Natural variant

1473

1

T → A. Ref.1
Corresponds to variant rs16970911 [ dbSNP | Ensembl ].

VAR_026434

Natural variant

2041

1

M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. Ref.17

VAR_069085

Natural variant

2338

1

C → Y.
Corresponds to variant rs61164860 [ dbSNP | Ensembl ].

VAR_061570

Experimental info

Sequence conflict

37

1

L → H in AAM45143. Ref.3

Sequence conflict

1332

1

P → A in BAC05691. Ref.2

Sequence conflict

1357

1

N → H in BAC05691. Ref.2

Sequence conflict

1756

1

N → Y in BAC05691. Ref.2

Secondary structure

1

.

.

.

.

.

2342

Helix Strand Turn

Details...

Helix

205 – 211

7

Helix

241 – 250

10

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 10, 2009. Version 3. Checksum: 8E29150CA4F5B5C1	FASTA	2,342	265,391
	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
	Isoform 2 [UniParc]. Checksum: A04548DF87BCA275	FASTA	2,316	262,632
	10 20 30 40 50 60 MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS 70 80 90 100 110 120 FADTIKVFQT ESHMKIVRKS EMEETETGEN LLLIQNKKLE DNYCEITGMN TLLSAPIHTQ 130 140 150 160 170 180 MQQKEFSIIE HTRERKHAND QTVIFSDENQ MDLTSSHTVM ITKGLLDNPI SEKSTKIDTT 190 200 210 220 230 240 SFLANLKLHT EDSRMKKEVN FSVDQNTSSE NKIDFNDFIK RLKTGKCSAF PDVPDKENFE 250 260 270 280 290 300 IPIYSKEPNS ASSTHQMHVS LKEDENNSNI TRLFREKDDG MNFTQCHTAN IQTLIPTSSE 310 320 330 340 350 360 TNSRESKGND ITIYGNDFMD LTFNHTLQIL PATGNFSEIE NQTQNAMDVT TGYGTKASGN 370 380 390 400 410 420 KTVFKSKQNT AFQDLSINSA DKIHITRSHI MGAETHIVSQ TCNQDARILA MTPESIYSNP 430 440 450 460 470 480 SIQGCKTVFY SSCNDAMEMT KCLSNMREEK NLLKHDSNYA KMYCNPDAMS SLTEKTIYSG 490 500 510 520 530 540 EENMDITKSH TVAIDNQIFK QDQSNVQIAA APTPEKEMML QNLMTTSEDG KMNVNCNSVP 550 560 570 580 590 600 HVSKERIQQS LSNPLSISLT DRKTELLSGE NMDLTESHTS NLGSQVPLAA YNLAPESTSE 610 620 630 640 650 660 SHSQSKSSSD ECEEITKSRN EPFQRSDIIA KNSLTDTWNK DKDWVLKILP YLDKDSPQSA 670 680 690 700 710 720 DCNQEIATSH NIVYCGGVLD KQITNRNTVS WEQSLFSTTK PLFSSGQFSM KNHDTAISSH 730 740 750 760 770 780 TVKSVLGQNS KLAEPLRKSL SNPTPDYCHD KMIICSEEEQ NMDLTKSHTV VIGFGPSELQ 790 800 810 820 830 840 ELGKTNLEHT TGQLTTMNRQ IAVKVEKCGK SPIEKSGVLK SNCIMDVLED ESVQKPKFPK 850 860 870 880 890 900 EKQNVKIWGR KSVGGPKIDK TIVFSEDDKN DMDITKSYTI EINHRPLLEK RDCHLVPLAG 910 920 930 940 950 960 TSETILYTCR QDDMEITRSH TTALECKTVS PDEITTRPMD KTVVFVDNHV ELEMTESHTV 970 980 990 1000 1010 1020 FIDYQEKERT DRPNFELSQR KSLGTPTVIC TPTEESVFFP GNGESDRLVA NDSQLTPLEE 1030 1040 1050 1060 1070 1080 WSNNRGPVEV ADNMELSKSA TCKNIKDVQS PGFLNEPLSS KSQRRKSLKL KNDKTIVFSE 1090 1100 1110 1120 1130 1140 NHKNDMDITQ SCMVEIDNES ALEDKEDFHL AGASKTILYS CGQDDMEITR SHTTALECKT 1150 1160 1170 1180 1190 1200 LLPNEIAIRP MDKTVLFTDN YSDLEVTDSH TVFIDCQATE KILEENPKFG IGKGKNLGVS 1210 1220 1230 1240 1250 1260 FPKDNSCVQE IAEKQALAVG NKIVLHTEQK QQLFAATNRT TNEIIKFHSA AMDEKVIGKV 1270 1280 1290 1300 1310 1320 VDQACTLEKA QVESCQLNNR DRRNVDFTSS HATAVCGSSD NYSCLPNVIS CTDNLEGSAM 1330 1340 1350 1360 1370 1380 LLCDKDEEKA NYCPVQNDLA YANDFASEYY LESEGQPLSA PCPLLEKEEV IQTSTKGQLD 1390 1400 1410 1420 1430 1440 CVITLHKDQD LIKDPRNLLA NQTLVYSQDL GEMTKLNSKR VSFKLPKDQM KVYVDDIYVI 1450 1460 1470 1480 1490 1500 PQPHFSTDQP PLPKKGQSSI NKEEVILSKA GNKSLNIIEN SSAPICENKP KILNSEEWFA 1510 1520 1530 1540 1550 1560 AACKKELKEN IQTTNYNTAL DFHSNSDVTK QVIQTHVNAG EAPDPVITSN VPCFHSIKPN 1570 1580 1590 1600 1610 1620 LNNLNGKTGE FLAFQTVHLP PLPEQLLELG NKAHNDMHIV QATEIHNINI ISSNAKDSRD 1630 1640 1650 1660 1670 1680 EENKKSHNGA ETTSLPPKTV FKDKVRRCSL GIFLPRLPNK RNCSVTGIDD LEQIPADTTD 1690 1700 1710 1720 1730 1740 INHLETQPVS SKDSGIGSVA GKLNLSPSQY INEENLPVYP DEINSSDSIN IETEEKALIE 1750 1760 1770 1780 1790 1800 TYQKEISPYE NKMGKTCNSQ KRTWVQEEED IHKEKKIRKN EIKFSDTTQD REIFDHHTEE 1810 1820 1830 1840 1850 1860 DIDKSANSVL IKNLSRTPSS CSSSLDSIKA DGTSLDFSTY RSSQMESQFL RDTICEESLR 1870 1880 1890 1900 1910 1920 EKLQDGRITI REFFILLQVH ILIQKPRQSN LPGNFTVNTP PTPEDLMLSQ YVYRPKIQIY 1930 1940 1950 1960 1970 1980 REDCEARRQK IEELKLSASN QDKLLVDINK NLWEKMRHCS DKELKAFGIY LNKIKSCFTK 1990 2000 2010 2020 2030 2040 MTKVFTHQGK VALYGKLVQS AQNEREKLQI KIDEMDKILK KIDNCLTEME TETKNLEDEE 2050 2060 2070 2080 2090 2100 KNNPVEEWDS EMRAAEKELE QLKTEEEELQ RNLLELEVQK EQTLAQIDFM QKQRNRTEEL 2110 2120 2130 2140 2150 2160 LDQLSLSEWD VVEWSDDQAV FTFVYDTIQL TITFEESVVG FPFLDKRYRK IVDVNFQSLL 2170 2180 2190 2200 2210 2220 DEDQAPPSSL LVHKLIFQYV EEKESWKKTC TTQHQLPKML EEFSLVVHHC RLLGEEIEYL 2230 2240 2250 2260 2270 2280 KRWGPNYNLM NIDINNNELR LLFSSSAAFA KFEITLFLSA YYPSVPLPST IQNHVGNTSQ 2290 2300 2310 DDIATILSKV PLENNYLKNV VKQIYQDLFQ DCHFYH
	Isoform 3 [UniParc]. Checksum: 3D0CEE718D1D2370	FASTA	1,746	195,604
	10 20 30 40 50 60 MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS 70 80 90 100 110 120 FADTIKVFQT ESHMKIVRKS EMEETETGEN LLLIQNKKLE DNYCEITGMN TLLSAPIHTQ 130 140 150 160 170 180 MQQKEFSIIE HTRERKHAND QTVIFSDENQ MDLTSSHTVM ITKGLLDNPI SEKSTKIDTT 190 200 210 220 230 240 SFLANLKLHT EDSRMKKEVN FSVDQNTSSE NKIDFNDFIK RLKTGKCSAF PDVPDKENFE 250 260 270 280 290 300 IPIYSKEPNS ASSTHQMHVS LKEDENNSNI TRLFREKDDG MNFTQCHTAN IQTLIPTSSE 310 320 330 340 350 360 TNSRESKGND ITIYGNDFMD LTFNHTLQIL PATGNFSEIE NQTQNAMDVT TGYGTKASGN 370 380 390 400 410 420 KTVFKSKQNT AFQDLSINSA DKIHITRSHI MGAETHIVSQ TCNQDARILA MTPESIYSNP 430 440 450 460 470 480 SIQGCKTVFY SSCNDAMEMT KCLSNMREEK NLLKHDSNYA KMYCNPDAMS SLTEKTIYSG 490 500 510 520 530 540 EENMDITKSH TVAIDNQIFK QDQSNVQIAA APTPEKEMML QNLMTTSEDG KMNVNCNSVP 550 560 570 580 590 600 HVSKERIQQS LSNPLSISLT DRKTELLSGE NMDLTESHTS NLGSQVPLAA YNLAPESTSE 610 620 630 640 650 660 SHSQSKSSSD ECEEITKSRN EPFQRSDIIA KNSLTDTWNK DKDWVLKILP YLDKDSPQSA 670 680 690 700 710 720 DCNQEIATSH NIVYCGGVLD KQITNRNTVS WEQSLFSTTK PLFSSGQFSM KNHDTAISSH 730 740 750 760 770 780 TVKSVLGQNS KLAEPLRKSL SNPTPDYCHD KMIICSEEEQ NMDLTKSHTV VIGFGPSELQ 790 800 810 820 830 840 ELGKTNLEHT TGQLTTMNRQ IAVKVEKCGK SPIEKSGVLK SNCIMDVLED ESVQKPKFPK 850 860 870 880 890 900 EKQNVKIWGR KSVGGPKIDK TIVFSEDDKN DMDITKSYTI EINHRPLLEK RDCHLVPLAG 910 920 930 940 950 960 TSETILYTCR QDDMEITRSH TTALECKTVS PDEITTRPMD KTVVFVDNHV ELEMTESHTV 970 980 990 1000 1010 1020 FIDYQEKERT DRPNFELSQR KSLGTPTVIC TPTEESVFFP GNGESDRLVA NDSQLTPLEE 1030 1040 1050 1060 1070 1080 WSNNRGPVEV ADNMELSKSA TCKNIKDVQS PGFLNEPLSS KSQRRKSLKL KNDKTIVFSE 1090 1100 1110 1120 1130 1140 NHKNDMDITQ SCMVEIDNES ALEDKEDFHL AGASKTILYS CGQDDMEITR SHTTALECKT 1150 1160 1170 1180 1190 1200 LLPNEIAIRP MDKTVLFTDN YSDLEVTDSH TVFIDCQATE KILEENPKFG IGKGKNLGVS 1210 1220 1230 1240 1250 1260 FPKDNSCVQE IAEKQALAVG NKIVLHTEQK QQLFAATNRT TNEIIKFHSA AMDEKVIGKV 1270 1280 1290 1300 1310 1320 VDQACTLEKA QVESCQLNNR DRRNVDFTSS HATAVCGSSD NYSCLPNVIS CTDNLEGSAM 1330 1340 1350 1360 1370 1380 LLCDKDEEKA NYCPVQNDLA YANDFASEYY LESEGQPLSA PCPLLEKEEV IQTSTKGQLD 1390 1400 1410 1420 1430 1440 CVITLHKDQD LIKDPRNLLA NQTLVYSQDL GEMTKLNSKR VSFKLPKDQM KVYVDDIYVI 1450 1460 1470 1480 1490 1500 PQPHFSTDQP PLPKKGQSSI NKEEVILSKA GNKSLNIIEN SSAPICENKP KILNSEEWFA 1510 1520 1530 1540 1550 1560 AACKKELKEN IQTTNYNTAL DFHSNSDVTK QVIQTHVNAG EAPDPVITSN VPCFHSIKPN 1570 1580 1590 1600 1610 1620 LNNLNGKTGE FLAFQTVHLP PLPEQLLELG NKAHNDMHIV QATEIHNINI ISSNAKDSRD 1630 1640 1650 1660 1670 1680 EENKKSHNGA ETTSLPPKTV FKDKVRRCSL GIFLPRLPNK RNCSVTGIDD LEQIPADTTD 1690 1700 1710 1720 1730 1740 INHLETQPVS SKDSGIGSVA GKLNLSPSQY INEENLPVYP DEINSSDSIN IETEEKAVGT RRRRYS
	Isoform 4 [UniParc]. Checksum: CB7FF1D71B561F62	FASTA	1,833	205,826
	10 20 30 40 50 60 MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS 70 80 90 100 110 120 FADTIKVFQT ESHMKIVRKS EMEETETGEN LLLIQNKKLE DNYCEITGMN TLLSAPIHTQ 130 140 150 160 170 180 MQQKEFSIIE HTRERKHAND QTVIFSDENQ MDLTSSHTVM ITKGLLDNPI SEKSTKIDTT 190 200 210 220 230 240 SFLANLKLHT EDSRMKKEVN FSVDQNTSSE NKIDFNDFIK RLKTGKCSAF PDVPDKENFE 250 260 270 280 290 300 IPIYSKEPNS ASSTHQMHVS LKEDENNSNI TRLFREKDDG MNFTQCHTAN IQTLIPTSSE 310 320 330 340 350 360 TNSRESKGND ITIYGNDFMD LTFNHTLQIL PATGNFSEIE NQTQNAMDVT TGYGTKASGN 370 380 390 400 410 420 KTVFKSKQNT AFQDLSINSA DKIHITRSHI MGAETHIVSQ TCNQDARILA MTPESIYSNP 430 440 450 460 470 480 SIQGCKTVFY SSCNDAMEMT KCLSNMREEK NLLKHDSNYA KMYCNPDAMS SLTEKTIYSG 490 500 510 520 530 540 EENMDITKSH TVAIDNQIFK QDQSNVQIAA APTPEKEMML QNLMTTSEDG KMNVNCNSVP 550 560 570 580 590 600 HVSKERIQQS LSNPLSISLT DRKTELLSGE NMDLTESHTS NLGSQVPLAA YNLAPESTSE 610 620 630 640 650 660 SHSQSKSSSD ECEEITKSRN EPFQRSDIIA KNSLTDTWNK DKDWVLKILP YLDKDSPQSA 670 680 690 700 710 720 DCNQEIATSH NIVYCGGVLD KQITNRNTVS WEQSLFSTTK PLFSSGQFSM KNHDTAISSH 730 740 750 760 770 780 TVKSVLGQNS KLAEPLRKSL SNPTPDYCHD KMIICSEEEQ NMDLTKSHTV VIGFGPSELQ 790 800 810 820 830 840 ELGKTNLEHT TGQLTTMNRQ IAVKVEKCGK SPIEKSGVLK SNCIMDVLED ESVQKPKFPK 850 860 870 880 890 900 EKQNVKIWGR KSVGGPKIDK TIVFSEDDKN DMDITKSYTI EINHRPLLEK RDCHLVPLAG 910 920 930 940 950 960 TSETILYTCR QDDMEITRSH TTALECKTVS PDEITTRPMD KTVVFVDNHV ELEMTESHTV 970 980 990 1000 1010 1020 FIDYQEKERT DRPNFELSQR KSLGTPTVIC TPTEESVFFP GNGESDRLVA NDSQLTPLEE 1030 1040 1050 1060 1070 1080 WSNNRGPVEV ADNMELSKSA TCKNIKDVQS PGFLNEPLSS KSQRRKSLKL KNDKTIVFSE 1090 1100 1110 1120 1130 1140 NHKNDMDITQ SCMVEIDNES ALEDKEDFHL AGASKTILYS CGQDDMEITR SHTTALECKT 1150 1160 1170 1180 1190 1200 LLPNEIAIRP MDKTVLFTDN YSDLEVTDSH TVFIDCQATE KILEENPKFG IGKGKNLGVS 1210 1220 1230 1240 1250 1260 FPKDNSCVQE IAEKQALAVG NKIVLHTEQK QQLFAATNRT TNEIIKFHSA AMDEKVIGKV 1270 1280 1290 1300 1310 1320 VDQACTLEKA QVESCQLNNR DRRNVDFTSS HATAVCGSSD NYSCLPNVIS CTDNLEGSAM 1330 1340 1350 1360 1370 1380 LLCDKDEEKA NYCPVQNDLA YANDFASEYY LESEGQPLSA PCPLLEKEEV IQTSTKGQLD 1390 1400 1410 1420 1430 1440 CVITLHKDQD LIKDPRNLLA NQTLVYSQDL GEMTKLNSKR VSFKLPKDQM KVYVDDIYVI 1450 1460 1470 1480 1490 1500 PQPHFSTDQP PLPKKGQSSI NKEEVILSKA GNKSLNIIEN SSAPICENKP KILNSEEWFA 1510 1520 1530 1540 1550 1560 AACKKELKEN IQTTNYNTAL DFHSNSDVTK QVIQTHVNAG EAPDPVITSN VPCFHSIKPN 1570 1580 1590 1600 1610 1620 LNNLNGKTGE FLAFQTVHLP PLPEQLLELG NKAHNDMHIV QATEIHNINI ISSNAKDSRD 1630 1640 1650 1660 1670 1680 EENKKSHNGA ETTSLPPKTV FKDKVRRCSL GIFLPRLPNK RNCSVTGIDD LEQIPADTTD 1690 1700 1710 1720 1730 1740 INHLETQPVS SKDSGIGSVA GKLNLSPSQY INEENLPVYP DEINSSDSIN IETEEKALIE 1750 1760 1770 1780 1790 1800 TYQKEISPYE NKMGKTCNSQ KRTWVQEEED IHKEKKIRKN EIKFSDTTQD REVSSVLNQR 1810 1820 1830 MFLNFGFCFV FLNCGYSQIL ILVSGRQKII IST

References

	« Hide 'large scale' referencesShow '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 MLL/HRX, 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 MLL/HRX, 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 MLL/HRX.
[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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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. , 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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.

IPI

IPI00163659.
IPI00170766.
IPI00220694.
IPI00747876.

RefSeq

NP_653091.3. NM_144508.4.
NP_733468.3. NM_170589.4.

UniGene

Hs.181855.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

Q8NG31.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-36474N.

IntAct

Q8NG31. 10 interactions.

MINT

MINT-1194225.

STRING

9606.ENSP00000335463.

PTM databases

PhosphoSite

Q8NG31.

Polymorphism databases

DMDM

223590239.

Proteomic databases

PaxDb

Q8NG31.

PRIDE

Q8NG31.

Protocols and materials databases

DNASU

57082.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000346991; ENSP00000335463; ENSG00000137812.
ENST00000399668; ENSP00000382576; ENSG00000137812.

GeneID

57082.

KEGG

hsa:57082.

UCSC

uc001zme.3. human.
uc010bbs.1. human.
uc010bbt.1. human.

Organism-specific databases

CTD

57082.

GeneCards

GC15P040886.

HGNC

HGNC:24054. CASC5.

HPA

HPA026624.

MIM

604321. phenotype.
609173. gene.

neXtProt

NX_Q8NG31.

PharmGKB

PA142672201.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG116910.

HOGENOM

HOG000246954.

HOVERGEN

HBG080986.

InParanoid

Q8NG31.

KO

K11542.

OMA

DDMEITR.

OrthoDB

EOG42FSGN.

Enzyme and pathway databases

Reactome

REACT_115566. Cell Cycle.
REACT_21300. Mitotic M-M/G1 phases.

Gene expression databases

ArrayExpress

Q8NG31.

Bgee

Q8NG31.

CleanEx

HS_CASC5.

Genevestigator

Q8NG31.

GermOnline

ENSG00000137812. Homo sapiens.

Family and domain databases

ProtoNet

Search...

Other

EvolutionaryTrace

Q8NG31.

GenomeRNAi

57082.

NextBio

62865.

SOURCE

Search...

Entry information

Entry name

CASC5_HUMAN

Accession

Primary (citable) accession number: Q8NG31
Secondary accession number(s): Q8NHE1 , Q8WXA6, Q9HCK2, Q9NR92

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 24, 2005
Last sequence update:	February 10, 2009
Last modified:	May 1, 2013
This is version 87 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.