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Q8NG31

- CASC5_HUMAN

UniProt

Q8NG31 - CASC5_HUMAN

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Protein

Protein CASC5

Gene

CASC5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 - 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
Complete GO annotation...

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. cytoplasm Source: HPA
  3. cytosol Source: Reactome
  4. extracellular vesicular exosome Source: UniProt
  5. kinetochore Source: UniProtKB-KW
  6. nucleoplasm Source: Reactome
  7. nucleus Source: UniProtKB
Complete GO annotation...

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

BgeeiQ8NG31.
CleanExiHS_CASC5.
ExpressionAtlasiQ8NG31. baseline and differential.
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. 26 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 – 2117Combined sources
Helixi241 – 25010Combined sources
Helixi2123 – 21308Combined sources
Beta strandi2136 – 21405Combined sources
Beta strandi2146 – 21516Combined sources
Beta strandi2154 – 21629Combined sources
Turni2168 – 21703Combined sources
Helixi2172 – 21743Combined sources
Beta strandi2177 – 21848Combined sources
Turni2188 – 21903Combined sources
Helixi2193 – 221018Combined sources
Turni2213 – 22153Combined sources
Helixi2219 – 22213Combined sources
Helixi2222 – 224928Combined sources
Helixi2250 – 22534Combined sources
Beta strandi2255 – 22617Combined sources
Beta strandi2264 – 22718Combined sources
Turni2272 – 22754Combined sources
Beta strandi2276 – 22838Combined sources
Turni2286 – 22894Combined sources
Beta strandi2295 – 23028Combined sources
Helixi2306 – 231510Combined sources
Helixi2322 – 233413Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00410000025918.
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

        10         20         30         40         50
MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL
60 70 80 90 100
RNKKNSRRVS FADTIKVFQT ESHMKIVRKS EMEGCSAMVP SQLQLLPPGF
110 120 130 140 150
KRFSCLSLPE TETGENLLLI QNKKLEDNYC EITGMNTLLS APIHTQMQQK
160 170 180 190 200
EFSIIEHTRE RKHANDQTVI FSDENQMDLT SSHTVMITKG LLDNPISEKS
210 220 230 240 250
TKIDTTSFLA NLKLHTEDSR MKKEVNFSVD QNTSSENKID FNDFIKRLKT
260 270 280 290 300
GKCSAFPDVP DKENFEIPIY SKEPNSASST HQMHVSLKED ENNSNITRLF
310 320 330 340 350
REKDDGMNFT QCHTANIQTL IPTSSETNSR ESKGNDITIY GNDFMDLTFN
360 370 380 390 400
HTLQILPATG NFSEIENQTQ NAMDVTTGYG TKASGNKTVF KSKQNTAFQD
410 420 430 440 450
LSINSADKIH ITRSHIMGAE THIVSQTCNQ DARILAMTPE SIYSNPSIQG
460 470 480 490 500
CKTVFYSSCN DAMEMTKCLS NMREEKNLLK HDSNYAKMYC NPDAMSSLTE
510 520 530 540 550
KTIYSGEENM DITKSHTVAI DNQIFKQDQS NVQIAAAPTP EKEMMLQNLM
560 570 580 590 600
TTSEDGKMNV NCNSVPHVSK ERIQQSLSNP LSISLTDRKT ELLSGENMDL
610 620 630 640 650
TESHTSNLGS QVPLAAYNLA PESTSESHSQ SKSSSDECEE ITKSRNEPFQ
660 670 680 690 700
RSDIIAKNSL TDTWNKDKDW VLKILPYLDK DSPQSADCNQ EIATSHNIVY
710 720 730 740 750
CGGVLDKQIT NRNTVSWEQS LFSTTKPLFS SGQFSMKNHD TAISSHTVKS
760 770 780 790 800
VLGQNSKLAE PLRKSLSNPT PDYCHDKMII CSEEEQNMDL TKSHTVVIGF
810 820 830 840 850
GPSELQELGK TNLEHTTGQL TTMNRQIAVK VEKCGKSPIE KSGVLKSNCI
860 870 880 890 900
MDVLEDESVQ KPKFPKEKQN VKIWGRKSVG GPKIDKTIVF SEDDKNDMDI
910 920 930 940 950
TKSYTIEINH RPLLEKRDCH LVPLAGTSET ILYTCRQDDM EITRSHTTAL
960 970 980 990 1000
ECKTVSPDEI TTRPMDKTVV FVDNHVELEM TESHTVFIDY QEKERTDRPN
1010 1020 1030 1040 1050
FELSQRKSLG TPTVICTPTE ESVFFPGNGE SDRLVANDSQ LTPLEEWSNN
1060 1070 1080 1090 1100
RGPVEVADNM ELSKSATCKN IKDVQSPGFL NEPLSSKSQR RKSLKLKNDK
1110 1120 1130 1140 1150
TIVFSENHKN DMDITQSCMV EIDNESALED KEDFHLAGAS KTILYSCGQD
1160 1170 1180 1190 1200
DMEITRSHTT ALECKTLLPN EIAIRPMDKT VLFTDNYSDL EVTDSHTVFI
1210 1220 1230 1240 1250
DCQATEKILE ENPKFGIGKG KNLGVSFPKD NSCVQEIAEK QALAVGNKIV
1260 1270 1280 1290 1300
LHTEQKQQLF AATNRTTNEI IKFHSAAMDE KVIGKVVDQA CTLEKAQVES
1310 1320 1330 1340 1350
CQLNNRDRRN VDFTSSHATA VCGSSDNYSC LPNVISCTDN LEGSAMLLCD
1360 1370 1380 1390 1400
KDEEKANYCP VQNDLAYAND FASEYYLESE GQPLSAPCPL LEKEEVIQTS
1410 1420 1430 1440 1450
TKGQLDCVIT LHKDQDLIKD PRNLLANQTL VYSQDLGEMT KLNSKRVSFK
1460 1470 1480 1490 1500
LPKDQMKVYV DDIYVIPQPH FSTDQPPLPK KGQSSINKEE VILSKAGNKS
1510 1520 1530 1540 1550
LNIIENSSAP ICENKPKILN SEEWFAAACK KELKENIQTT NYNTALDFHS
1560 1570 1580 1590 1600
NSDVTKQVIQ THVNAGEAPD PVITSNVPCF HSIKPNLNNL NGKTGEFLAF
1610 1620 1630 1640 1650
QTVHLPPLPE QLLELGNKAH NDMHIVQATE IHNINIISSN AKDSRDEENK
1660 1670 1680 1690 1700
KSHNGAETTS LPPKTVFKDK VRRCSLGIFL PRLPNKRNCS VTGIDDLEQI
1710 1720 1730 1740 1750
PADTTDINHL ETQPVSSKDS GIGSVAGKLN LSPSQYINEE NLPVYPDEIN
1760 1770 1780 1790 1800
SSDSINIETE EKALIETYQK EISPYENKMG KTCNSQKRTW VQEEEDIHKE
1810 1820 1830 1840 1850
KKIRKNEIKF SDTTQDREIF DHHTEEDIDK SANSVLIKNL SRTPSSCSSS
1860 1870 1880 1890 1900
LDSIKADGTS LDFSTYRSSQ MESQFLRDTI CEESLREKLQ DGRITIREFF
1910 1920 1930 1940 1950
ILLQVHILIQ KPRQSNLPGN FTVNTPPTPE DLMLSQYVYR PKIQIYREDC
1960 1970 1980 1990 2000
EARRQKIEEL KLSASNQDKL LVDINKNLWE KMRHCSDKEL KAFGIYLNKI
2010 2020 2030 2040 2050
KSCFTKMTKV FTHQGKVALY GKLVQSAQNE REKLQIKIDE MDKILKKIDN
2060 2070 2080 2090 2100
CLTEMETETK NLEDEEKNNP VEEWDSEMRA AEKELEQLKT EEEELQRNLL
2110 2120 2130 2140 2150
ELEVQKEQTL AQIDFMQKQR NRTEELLDQL SLSEWDVVEW SDDQAVFTFV
2160 2170 2180 2190 2200
YDTIQLTITF EESVVGFPFL DKRYRKIVDV NFQSLLDEDQ APPSSLLVHK
2210 2220 2230 2240 2250
LIFQYVEEKE SWKKTCTTQH QLPKMLEEFS LVVHHCRLLG EEIEYLKRWG
2260 2270 2280 2290 2300
PNYNLMNIDI NNNELRLLFS SSAAFAKFEI TLFLSAYYPS VPLPSTIQNH
2310 2320 2330 2340
VGNTSQDDIA TILSKVPLEN NYLKNVVKQI YQDLFQDCHF YH
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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. 26 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.
GeneTreei ENSGT00410000025918.
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

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

Gene expression databases

Bgeei Q8NG31.
CleanExi HS_CASC5.
ExpressionAtlasi Q8NG31. baseline and differential.
Genevestigatori Q8NG31.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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: November 26, 2014
This is version 104 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