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Protein

Protein CASC5

Gene

CASC5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

  • acrosome assembly Source: UniProtKB
  • attachment of spindle microtubules to kinetochore Source: UniProtKB
  • cell division Source: UniProtKB-KW
  • CENP-A containing nucleosome assembly Source: Reactome
  • mitotic nuclear division Source: UniProtKB-KW
  • negative regulation of phosphatase activity Source: UniProtKB
  • protein localization to kinetochore Source: MGI
  • sister chromatid cohesion Source: Reactome
  • spindle assembly checkpoint Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division, Chromosome partition, Mitosis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137812-MONOMER.
ReactomeiR-HSA-2467813. Separation of Sister Chromatids.
R-HSA-2500257. Resolution of Sister Chromatid Cohesion.
R-HSA-5663220. RHO GTPases Activate Formins.
R-HSA-606279. Deposition of new CENPA-containing nucleosomes at the centromere.
R-HSA-68877. Mitotic Prometaphase.
SIGNORiQ8NG31.

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
Proteomesi
  • UP000005640 Componenti: 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

  • acrosomal vesicle Source: UniProtKB
  • condensed chromosome kinetochore Source: UniProtKB-SubCell
  • cytoplasm Source: HPA
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • nucleoplasm Source: HPA
  • 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. May give rise to a KMT2A-CASC5 fusion protein.

Microcephaly 4, primary, autosomal recessive (MCPH4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:604321
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0690852041M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. 2 PublicationsCorresponds to variant rs763915472dbSNPEnsembl.1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei1818 – 1819Breakpoint for translocation to form KMT2A-CASC51 Publication2

Keywords - Diseasei

Disease mutation, Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNETi57082.
MalaCardsiCASC5.
MIMi604321. phenotype.
OpenTargetsiENSG00000137812.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA142672201.

Polymorphism and mutation databases

DMDMi223590239.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000893271 – 2342Protein CASC5Add BLAST2342

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei32PhosphoserineCombined sources1
Modified residuei60PhosphoserineCombined sources1
Modified residuei539PhosphothreonineCombined sources1
Modified residuei578PhosphoserineCombined sources1
Modified residuei584PhosphoserineCombined sources1
Modified residuei586PhosphothreonineCombined sources1
Modified residuei767PhosphoserineCombined sources1
Modified residuei956PhosphoserineCombined sources1
Modified residuei1039PhosphoserineCombined sources1
Modified residuei1076PhosphoserineCombined sources1
Modified residuei1088PhosphoserineCombined sources1
Modified residuei1448PhosphoserineCombined sources1
Modified residuei1675PhosphoserineCombined sources1
Modified residuei1773PhosphoserineCombined sources1
Modified residuei1831PhosphoserineCombined sources1
Modified residuei1845PhosphoserineCombined sources1
Modified residuei1860PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NG31.
MaxQBiQ8NG31.
PaxDbiQ8NG31.
PeptideAtlasiQ8NG31.
PRIDEiQ8NG31.

PTM databases

iPTMnetiQ8NG31.
PhosphoSitePlusiQ8NG31.

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

BgeeiENSG00000137812.
CleanExiHS_CASC5.
ExpressionAtlasiQ8NG31. baseline and differential.
GenevisibleiQ8NG31. HS.

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. 46 interactors.
DIPiDIP-36474N.
IntActiQ8NG31. 37 interactors.
MINTiMINT-1194225.
STRINGi9606.ENSP00000335463.

Structurei

Secondary structure

12342
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi205 – 211Combined sources7
Helixi241 – 250Combined sources10
Helixi2123 – 2130Combined sources8
Beta strandi2136 – 2140Combined sources5
Beta strandi2146 – 2151Combined sources6
Beta strandi2154 – 2162Combined sources9
Turni2168 – 2170Combined sources3
Helixi2172 – 2174Combined sources3
Beta strandi2177 – 2184Combined sources8
Turni2188 – 2190Combined sources3
Helixi2193 – 2210Combined sources18
Turni2213 – 2215Combined sources3
Helixi2219 – 2221Combined sources3
Helixi2222 – 2249Combined sources28
Helixi2250 – 2253Combined sources4
Beta strandi2255 – 2261Combined sources7
Beta strandi2264 – 2271Combined sources8
Turni2272 – 2275Combined sources4
Beta strandi2276 – 2283Combined sources8
Turni2286 – 2289Combined sources4
Beta strandi2295 – 2302Combined sources8
Helixi2306 – 2315Combined sources10
Helixi2322 – 2334Combined sources13

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8NG31.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati885 – 9891Add BLAST105
Repeati1099 – 12012Add BLAST103

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 728Interaction with BUB1 and BUB1B1 PublicationAdd BLAST728
Regioni855 – 12012 X 104 AA approximate repeatsAdd BLAST347
Regioni1834 – 2316Necessary for kinetochore localization and for interaction with NSL1 and DSN11 PublicationAdd BLAST483

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1942 – 2133Sequence analysisAdd BLAST192

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1789 – 1803Nuclear localization signalSequence analysisAdd BLAST15

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IF9C. Eukaryota.
ENOG410XZXJ. LUCA.
GeneTreeiENSGT00410000025918.
HOGENOMiHOG000246954.
HOVERGENiHBG080986.
InParanoidiQ8NG31.
KOiK11542.
OMAiMEITRSH.
OrthoDBiEOG091G0YZU.
PhylomeDBiQ8NG31.
TreeFamiTF335517.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti37L → H in AAM45143 (PubMed:12618768).Curated1
Sequence conflicti1332P → A in BAC05691 (PubMed:12087463).Curated1
Sequence conflicti1357N → H in BAC05691 (PubMed:12087463).Curated1
Sequence conflicti1756N → Y in BAC05691 (PubMed:12087463).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02642843R → T.1 PublicationCorresponds to variant rs7177192dbSNPEnsembl.1
Natural variantiVAR_02642970T → A.Corresponds to variant rs16970874dbSNPEnsembl.1
Natural variantiVAR_026430113T → A.1 PublicationCorresponds to variant rs12911738dbSNPEnsembl.1
Natural variantiVAR_061568177M → V.Corresponds to variant rs35146555dbSNPEnsembl.1
Natural variantiVAR_026431486A → S.2 PublicationsCorresponds to variant rs2412541dbSNPEnsembl.1
Natural variantiVAR_054342598M → T.4 PublicationsCorresponds to variant rs11858113dbSNPEnsembl.1
Natural variantiVAR_026432936R → G.3 PublicationsCorresponds to variant rs8040502dbSNPEnsembl.1
Natural variantiVAR_0615691190L → V.Corresponds to variant rs58614880dbSNPEnsembl.1
Natural variantiVAR_0264331285K → E.1 PublicationCorresponds to variant rs17747633dbSNPEnsembl.1
Natural variantiVAR_0264341473T → A.1 PublicationCorresponds to variant rs16970911dbSNPEnsembl.1
Natural variantiVAR_0690852041M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. 2 PublicationsCorresponds to variant rs763915472dbSNPEnsembl.1
Natural variantiVAR_0615702338C → Y.Corresponds to variant rs61164860dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01379584 – 109Missing in isoform 2, isoform 3 and isoform 4. 2 PublicationsAdd BLAST26
Alternative sequenceiVSP_0137961764 – 1772LIETYQKEI → VGTRRRRYS in isoform 3. 1 Publication9
Alternative sequenceiVSP_0137971773 – 2342Missing in isoform 3. 1 PublicationAdd BLAST570
Alternative sequenceiVSP_0185241819 – 1859IFDHH…KADGT → VSSVLNQRMFLNFGFCFVFL NCGYSQILILVSGRQKIIIS T in isoform 4. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_0185251860 – 2342Missing in isoform 4. 1 PublicationAdd BLAST483

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.
UCSCiuc010bbs.2. human. [Q8NG31-1]

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.
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121354. 46 interactors.
DIPiDIP-36474N.
IntActiQ8NG31. 37 interactors.
MINTiMINT-1194225.
STRINGi9606.ENSP00000335463.

PTM databases

iPTMnetiQ8NG31.
PhosphoSitePlusiQ8NG31.

Polymorphism and mutation databases

DMDMi223590239.

Proteomic databases

EPDiQ8NG31.
MaxQBiQ8NG31.
PaxDbiQ8NG31.
PeptideAtlasiQ8NG31.
PRIDEiQ8NG31.

Protocols and materials databases

DNASUi57082.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000346991; ENSP00000335463; ENSG00000137812. [Q8NG31-1]
ENST00000399668; ENSP00000382576; ENSG00000137812. [Q8NG31-2]
GeneIDi57082.
KEGGihsa:57082.
UCSCiuc010bbs.2. human. [Q8NG31-1]

Organism-specific databases

CTDi57082.
DisGeNETi57082.
GeneCardsiCASC5.
GeneReviewsiCASC5.
HGNCiHGNC:24054. CASC5.
HPAiHPA026624.
HPA049647.
MalaCardsiCASC5.
MIMi604321. phenotype.
609173. gene.
neXtProtiNX_Q8NG31.
OpenTargetsiENSG00000137812.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA142672201.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF9C. Eukaryota.
ENOG410XZXJ. LUCA.
GeneTreeiENSGT00410000025918.
HOGENOMiHOG000246954.
HOVERGENiHBG080986.
InParanoidiQ8NG31.
KOiK11542.
OMAiMEITRSH.
OrthoDBiEOG091G0YZU.
PhylomeDBiQ8NG31.
TreeFamiTF335517.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137812-MONOMER.
ReactomeiR-HSA-2467813. Separation of Sister Chromatids.
R-HSA-2500257. Resolution of Sister Chromatid Cohesion.
R-HSA-5663220. RHO GTPases Activate Formins.
R-HSA-606279. Deposition of new CENPA-containing nucleosomes at the centromere.
R-HSA-68877. Mitotic Prometaphase.
SIGNORiQ8NG31.

Miscellaneous databases

ChiTaRSiCASC5. human.
EvolutionaryTraceiQ8NG31.
GeneWikiiCASC5.
GenomeRNAii57082.
PROiQ8NG31.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137812.
CleanExiHS_CASC5.
ExpressionAtlasiQ8NG31. baseline and differential.
GenevisibleiQ8NG31. HS.

Family and domain databases

ProtoNetiSearch...

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 30, 2016
This is version 124 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.