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Protein

Abnormal spindle-like microcephaly-associated protein

Gene

ASPM

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

Functioni

Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis.2 Publications

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division, Mitosis

Keywords - Ligandi

Calmodulin-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Abnormal spindle-like microcephaly-associated protein
Alternative name(s):
Abnormal spindle protein homolog
Short name:
Asp homolog
Gene namesi
Name:ASPM
Synonyms:MCPH5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:19048. ASPM.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB-SubCell
  • meiotic spindle Source: Ensembl
  • microtubule minus-end Source: HGNC
  • midbody Source: Ensembl
  • mitotic spindle pole Source: HGNC
  • nucleus Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Microcephaly 5, primary, autosomal recessive (MCPH5)3 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:608716

Keywords - Diseasei

Disease mutation, Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNETi259266.
MalaCardsiASPM.
MIMi608716. phenotype.
OpenTargetsiENSG00000066279.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA38782.

Polymorphism and mutation databases

BioMutaiASPM.
DMDMi215273935.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001913321 – 3477Abnormal spindle-like microcephaly-associated proteinAdd BLAST3477

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei280PhosphoserineCombined sources1
Modified residuei283PhosphoserineCombined sources1
Modified residuei367PhosphoserineCombined sources1
Modified residuei392PhosphoserineCombined sources1
Modified residuei425PhosphoserineCombined sources1
Modified residuei605PhosphoserineCombined sources1
Modified residuei1103PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8IZT6.
MaxQBiQ8IZT6.
PaxDbiQ8IZT6.
PeptideAtlasiQ8IZT6.
PRIDEiQ8IZT6.

PTM databases

iPTMnetiQ8IZT6.
PhosphoSitePlusiQ8IZT6.

Expressioni

Gene expression databases

BgeeiENSG00000066279.
ExpressionAtlasiQ8IZT6. baseline and differential.
GenevisibleiQ8IZT6. HS.

Organism-specific databases

HPAiCAB017816.

Interactioni

Protein-protein interaction databases

BioGridi129236. 71 interactors.
IntActiQ8IZT6. 25 interactors.
MINTiMINT-3038606.
STRINGi9606.ENSP00000356379.

Structurei

3D structure databases

ProteinModelPortaliQ8IZT6.
SMRiQ8IZT6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini920 – 1056CH 1PROSITE-ProRule annotationAdd BLAST137
Domaini1110 – 1224CH 2PROSITE-ProRule annotationAdd BLAST115
Domaini1347 – 1378IQ 1PROSITE-ProRule annotationAdd BLAST32
Domaini1393 – 1422IQ 2PROSITE-ProRule annotationAdd BLAST30
Domaini1582 – 1613IQ 3PROSITE-ProRule annotationAdd BLAST32
Domaini1632 – 1661IQ 4PROSITE-ProRule annotationAdd BLAST30
Domaini1655 – 1684IQ 5PROSITE-ProRule annotationAdd BLAST30
Domaini1728 – 1757IQ 6PROSITE-ProRule annotationAdd BLAST30
Domaini1751 – 1782IQ 7PROSITE-ProRule annotationAdd BLAST32
Domaini1801 – 1830IQ 8PROSITE-ProRule annotationAdd BLAST30
Domaini1824 – 1853IQ 9PROSITE-ProRule annotationAdd BLAST30
Domaini1874 – 1903IQ 10PROSITE-ProRule annotationAdd BLAST30
Domaini1897 – 1928IQ 11PROSITE-ProRule annotationAdd BLAST32
Domaini1947 – 1978IQ 12PROSITE-ProRule annotationAdd BLAST32
Domaini1970 – 2001IQ 13PROSITE-ProRule annotationAdd BLAST32
Domaini2020 – 2049IQ 14PROSITE-ProRule annotationAdd BLAST30
Domaini2043 – 2074IQ 15PROSITE-ProRule annotationAdd BLAST32
Domaini2093 – 2124IQ 16PROSITE-ProRule annotationAdd BLAST32
Domaini2116 – 2147IQ 17PROSITE-ProRule annotationAdd BLAST32
Domaini2166 – 2197IQ 18PROSITE-ProRule annotationAdd BLAST32
Domaini2189 – 2218IQ 19PROSITE-ProRule annotationAdd BLAST30
Domaini2239 – 2270IQ 20PROSITE-ProRule annotationAdd BLAST32
Domaini2262 – 2293IQ 21PROSITE-ProRule annotationAdd BLAST32
Domaini2311 – 2342IQ 22PROSITE-ProRule annotationAdd BLAST32
Domaini2334 – 2365IQ 23PROSITE-ProRule annotationAdd BLAST32
Domaini2384 – 2415IQ 24PROSITE-ProRule annotationAdd BLAST32
Domaini2407 – 2438IQ 25PROSITE-ProRule annotationAdd BLAST32
Domaini2457 – 2488IQ 26PROSITE-ProRule annotationAdd BLAST32
Domaini2530 – 2561IQ 27PROSITE-ProRule annotationAdd BLAST32
Domaini2624 – 2653IQ 28PROSITE-ProRule annotationAdd BLAST30
Domaini2665 – 2696IQ 29PROSITE-ProRule annotationAdd BLAST32
Domaini2688 – 2719IQ 30PROSITE-ProRule annotationAdd BLAST32
Domaini2738 – 2767IQ 31PROSITE-ProRule annotationAdd BLAST30
Domaini2859 – 2890IQ 32PROSITE-ProRule annotationAdd BLAST32
Domaini2909 – 2938IQ 33PROSITE-ProRule annotationAdd BLAST30
Domaini2932 – 2963IQ 34PROSITE-ProRule annotationAdd BLAST32
Domaini2954 – 2985IQ 35PROSITE-ProRule annotationAdd BLAST32
Domaini3029 – 3060IQ 36PROSITE-ProRule annotationAdd BLAST32
Domaini3079 – 3110IQ 37PROSITE-ProRule annotationAdd BLAST32
Domaini3181 – 3210IQ 38PROSITE-ProRule annotationAdd BLAST30
Domaini3204 – 3235IQ 39PROSITE-ProRule annotationAdd BLAST32

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1057 – 1078Sequence analysisAdd BLAST22

Sequence similaritiesi

Contains 2 CH (calponin-homology) domains.PROSITE-ProRule annotation
Contains 39 IQ domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0165. Eukaryota.
ENOG410XSAR. LUCA.
GeneTreeiENSGT00560000077332.
HOGENOMiHOG000034105.
HOVERGENiHBG050595.
InParanoidiQ8IZT6.
KOiK16743.
OMAiQSHFRRW.
OrthoDBiEOG091G0332.
PhylomeDBiQ8IZT6.
TreeFamiTF351180.

Family and domain databases

Gene3Di1.10.418.10. 3 hits.
1.25.10.10. 1 hit.
4.10.270.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR031549. ASH.
IPR029955. ASPM.
IPR001715. CH-domain.
IPR000048. IQ_motif_EF-hand-BS.
IPR027401. Myosin-like_IQ_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11915:SF303. PTHR11915:SF303. 3 hits.
PfamiPF15780. ASH. 1 hit.
PF00307. CH. 1 hit.
PF00612. IQ. 38 hits.
[Graphical view]
SMARTiSM00033. CH. 2 hits.
SM00015. IQ. 63 hits.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 3 hits.
SSF48371. SSF48371. 1 hit.
SSF52540. SSF52540. 18 hits.
PROSITEiPS50021. CH. 2 hits.
PS50096. IQ. 39 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IZT6-1) [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
MANRRVGRGC WEVSPTERRP PAGLRGPAAE EEASSPPVLS LSHFCRSPFL
60 70 80 90 100
CFGDVLLGAS RTLSLALDNP NEEVAEVKIS HFPAADLGFS VSQRCFVLQP
110 120 130 140 150
KEKIVISVNW TPLKEGRVRE IMTFLVNDVL KHQAILLGNA EEQKKKKRSL
160 170 180 190 200
WDTIKKKKIS ASTSHNRRVS NIQNVNKTFS VSQKVDRVRS PLQACENLAM
210 220 230 240 250
NEGGPPTENN SLILEENKIP ISPISPAFNE CHGATCLPLS VRRSTTYSSL
260 270 280 290 300
HASENRELLN VHSANVSKVS FNEKAVTETS FNSVNVNGQR GENSKLSLTP
310 320 330 340 350
NCSSTLNITQ SQIHFLSPDS FVNNSHGANN ELELVTCLSS DMFMKDNSQP
360 370 380 390 400
VHLESTIAHE IYQKILSPDS FIKDNYGLNQ DLESESVNPI LSPNQFLKDN
410 420 430 440 450
MAYMCTSQQT CKVPLSNENS QVPQSPEDWR KSEVSPRIPE CQGSKSPKAI
460 470 480 490 500
FEELVEMKSN YYSFIKQNNP KFSAVQDISS HSHNKQPKRR PILSATVTKR
510 520 530 540 550
KATCTRENQT EINKPKAKRC LNSAVGEHEK VINNQKEKED FHSYLPIIDP
560 570 580 590 600
ILSKSKSYKN EVTPSSTTAS VARKRKSDGS MEDANVRVAI TEHTEVREIK
610 620 630 640 650
RIHFSPSEPK TSAVKKTKNV TTPISKRISN REKLNLKKKT DLSIFRTPIS
660 670 680 690 700
KTNKRTKPII AVAQSSLTFI KPLKTDIPRH PMPFAAKNMF YDERWKEKQE
710 720 730 740 750
QGFTWWLNFI LTPDDFTVKT NISEVNAATL LLGIENQHKI SVPRAPTKEE
760 770 780 790 800
MSLRAYTARC RLNRLRRAAC RLFTSEKMVK AIKKLEIEIE ARRLIVRKDR
810 820 830 840 850
HLWKDVGERQ KVLNWLLSYN PLWLRIGLET TYGELISLED NSDVTGLAMF
860 870 880 890 900
ILNRLLWNPD IAAEYRHPTV PHLYRDGHEE ALSKFTLKKL LLLVCFLDYA
910 920 930 940 950
KISRLIDHDP CLFCKDAEFK ASKEILLAFS RDFLSGEGDL SRHLGLLGLP
960 970 980 990 1000
VNHVQTPFDE FDFAVTNLAV DLQCGVRLVR TMELLTQNWD LSKKLRIPAI
1010 1020 1030 1040 1050
SRLQKMHNVD IVLQVLKSRG IELSDEHGNT ILSKDIVDRH REKTLRLLWK
1060 1070 1080 1090 1100
IAFAFQVDIS LNLDQLKEEI AFLKHTKSIK KTISLLSCHS DDLINKKKGK
1110 1120 1130 1140 1150
RDSGSFEQYS ENIKLLMDWV NAVCAFYNKK VENFTVSFSD GRVLCYLIHH
1160 1170 1180 1190 1200
YHPCYVPFDA ICQRTTQTVE CTQTGSVVLN SSSESDDSSL DMSLKAFDHE
1210 1220 1230 1240 1250
NTSELYKELL ENEKKNFHLV RSAVRDLGGI PAMINHSDMS NTIPDEKVVI
1260 1270 1280 1290 1300
TYLSFLCARL LDLRKEIRAA RLIQTTWRKY KLKTDLKRHQ EREKAARIIQ
1310 1320 1330 1340 1350
LAVINFLAKQ RLRKRVNAAL VIQKYWRRVL AQRKLLMLKK EKLEKVQNKA
1360 1370 1380 1390 1400
ASLIQGYWRR YSTRQRFLKL KYYSIILQSR IRMIIAVTSY KRYLWATVTI
1410 1420 1430 1440 1450
QRHWRAYLRR KQDQQRYEML KSSTLIIQSM FRKWKQRKMQ SQVKATVILQ
1460 1470 1480 1490 1500
RAFREWHLRK QAKEENSAII IQSWYRMHKE LRKYIYIRSC VVIIQKRFRC
1510 1520 1530 1540 1550
FQAQKLYKRR KESILTIQKY YKAYLKGKIE RTNYLQKRAA AIQLQAAFRR
1560 1570 1580 1590 1600
LKAHNLCRQI RAACVIQSYW RMRQDRVRFL NLKKTIIKFQ AHVRKHQQRQ
1610 1620 1630 1640 1650
KYKKMKKAAV IIQTHFRAYI FAMKVLASYQ KTRSAVIVLQ SAYRGMQARK
1660 1670 1680 1690 1700
MYIHILTSVI KIQSYYRAYV SKKEFLSLKN ATIKLQSTVK MKQTRKQYLH
1710 1720 1730 1740 1750
LRAAALFIQQ CYRSKKIAAQ KREEYMQMRE SCIKLQAFVR GYLVRKQMRL
1760 1770 1780 1790 1800
QRKAVISLQS YFRMRKARQY YLKMYKAIIV IQNYYHAYKA QVNQRKNFLQ
1810 1820 1830 1840 1850
VKKAATCLQA AYRGYKVRQL IKQQSIAALK IQSAFRGYNK RVKYQSVLQS
1860 1870 1880 1890 1900
IIKIQRWYRA YKTLHDTRTH FLKTKAAVIS LQSAYRGWKV RKQIRREHQA
1910 1920 1930 1940 1950
ALKIQSAFRM AKAQKQFRLF KTAALVIQQN FRAWTAGRKQ CMEYIELRHA
1960 1970 1980 1990 2000
VLVLQSMWKG KTLRRQLQRQ HKCAIIIQSY YRMHVQQKKW KIMKKAALLI
2010 2020 2030 2040 2050
QKYYRAYSIG REQNHLYLKT KAAVVTLQSA YRGMKVRKRI KDCNKAAVTI
2060 2070 2080 2090 2100
QSKYRAYKTK KKYATYRASA IIIQRWYRGI KITNHQHKEY LNLKKTAIKI
2110 2120 2130 2140 2150
QSVYRGIRVR RHIQHMHRAA TFIKAMFKMH QSRISYHTMR KAAIVIQVRC
2160 2170 2180 2190 2200
RAYYQGKMQR EKYLTILKAV KVLQASFRGV RVRRTLRKMQ TAATLIQSNY
2210 2220 2230 2240 2250
RRYRQQTYFN KLKKITKTVQ QRYWAMKERN IQFQRYNKLR HSVIYIQAIF
2260 2270 2280 2290 2300
RGKKARRHLK MMHIAATLIQ RRFRTLMMRR RFLSLKKTAI LIQRKYRAHL
2310 2320 2330 2340 2350
CTKHHLQFLQ VQNAVIKIQS SYRRWMIRKR MREMHRAATF IQSTFRMHRL
2360 2370 2380 2390 2400
HMRYQALKQA SVVIQQQYQA NRAAKLQRQH YLRQRHSAVI LQAAFRGMKT
2410 2420 2430 2440 2450
RRHLKSMHSS ATLIQSRFRS LLVRRRFISL KKATIFVQRK YRATICAKHK
2460 2470 2480 2490 2500
LYQFLHLRKA AITIQSSYRR LMVKKKLQEM QRAAVLIQAT FRMYRTYITF
2510 2520 2530 2540 2550
QTWKHASILI QQHYRTYRAA KLQRENYIRQ WHSAVVIQAA YKGMKARQLL
2560 2570 2580 2590 2600
REKHKASIVI QSTYRMYRQY CFYQKLQWAT KIIQEKYRAN KKKQKVFQHN
2610 2620 2630 2640 2650
ELKKETCVQA GFQDMNIKKQ IQEQHQAAII IQKHCKAFKI RKHYLHLRAT
2660 2670 2680 2690 2700
VVSIQRRYRK LTAVRTQAVI CIQSYYRGFK VRKDIQNMHR AATLIQSFYR
2710 2720 2730 2740 2750
MHRAKVDYET KKTAIVVIQN YYRLYVRVKT ERKNFLAVQK SVRTIQAAFR
2760 2770 2780 2790 2800
GMKVRQKLKN VSEEKMAAIV NQSALCCYRS KTQYEAVQSE GVMIQEWYKA
2810 2820 2830 2840 2850
SGLACSQEAE YHSQSRAAVT IQKAFCRMVT RKLETQKCAA LRIQFFLQMA
2860 2870 2880 2890 2900
VYRRRFVQQK RAAITLQHYF RTWQTRKQFL LYRKAAVVLQ NHYRAFLSAK
2910 2920 2930 2940 2950
HQRQVYLQIR SSVIIIQARS KGFIQKRKFQ EIKNSTIKIQ AMWRRYRAKK
2960 2970 2980 2990 3000
YLCKVKAACK IQAWYRCWRA HKEYLAILKA VKIIQGCFYT KLERTRFLNV
3010 3020 3030 3040 3050
RASAIIIQRK WRAILPAKIA HEHFLMIKRH RAACLIQAHY RGYKGRQVFL
3060 3070 3080 3090 3100
RQKSAALIIQ KYIRAREAGK HERIKYIEFK KSTVILQALV RGWLVRKRFL
3110 3120 3130 3140 3150
EQRAKIRLLH FTAAAYYHLN AVRIQRAYKL YLAVKNANKQ VNSVICIQRW
3160 3170 3180 3190 3200
FRARLQEKRF IQKYHSIKKI EHEGQECLSQ RNRAASVIQK AVRHFLLRKK
3210 3220 3230 3240 3250
QEKFTSGIIK IQALWRGYSW RKKNDCTKIK AIRLSLQVVN REIREENKLY
3260 3270 3280 3290 3300
KRTALALHYL LTYKHLSAIL EALKHLEVVT RLSPLCCENM AQSGAISKIF
3310 3320 3330 3340 3350
VLIRSCNRSI PCMEVIRYAV QVLLNVSKYE KTTSAVYDVE NCIDILLELL
3360 3370 3380 3390 3400
QIYREKPGNK VADKGGSIFT KTCCLLAILL KTTNRASDVR SRSKVVDRIY
3410 3420 3430 3440 3450
SLYKLTAHKH KMNTERILYK QKKNSSISIP FIPETPVRTR IVSRLKPDWV
3460 3470
LRRDNMEEIT NPLQAIQMVM DTLGIPY
Length:3,477
Mass (Da):409,800
Last modified:November 25, 2008 - v2
Checksum:iEB6EDAD3FF186108
GO
Isoform 2 (identifier: Q8IZT6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1356-2940: Missing.

Note: No experimental confirmation available.
Show »
Length:1,892
Mass (Da):217,794
Checksum:iD6ED2A4B2DEAB0EF
GO

Sequence cautioni

The sequence AAH34607 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA91676 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2355Q → R in AAN40011 (PubMed:12355089).Curated1
Sequence conflicti2355Q → R in AAR12641 (PubMed:14704186).Curated1
Sequence conflicti2977I → V in BAA91676 (PubMed:14702039).Curated1
Sequence conflicti3049F → S in BAA91676 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047263313I → V.Corresponds to variant rs12025066dbSNPEnsembl.1
Natural variantiVAR_024369430R → G.Corresponds to variant rs6428388dbSNPEnsembl.1
Natural variantiVAR_046758869T → S.Corresponds to variant rs7551108dbSNPEnsembl.1
Natural variantiVAR_0467591090S → F.1 PublicationCorresponds to variant rs16841081dbSNPEnsembl.1
Natural variantiVAR_0467602494Y → H.3 PublicationsCorresponds to variant rs964201dbSNPEnsembl.1
Natural variantiVAR_0719302526N → D.1 PublicationCorresponds to variant rs587783267dbSNPEnsembl.1
Natural variantiVAR_0190842562S → G.1 PublicationCorresponds to variant rs41310927dbSNPEnsembl.1
Natural variantiVAR_0467612620Q → H.Corresponds to variant rs12138336dbSNPEnsembl.1
Natural variantiVAR_0190852647L → I.3 PublicationsCorresponds to variant rs3762271dbSNPEnsembl.1
Natural variantiVAR_0190863132L → R.1 PublicationCorresponds to variant rs36004306dbSNPEnsembl.1
Natural variantiVAR_0719313180Q → P.2 PublicationsCorresponds to variant rs193251130dbSNPEnsembl.1
Natural variantiVAR_0467623258H → R.Corresponds to variant rs7528827dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0106801356 – 2940Missing in isoform 2. 2 PublicationsAdd BLAST1585

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF509326 mRNA. Translation: AAN40011.1.
AY099890 mRNA. Translation: AAM44119.1.
AY099891 mRNA. Translation: AAM44120.1.
AY099892 mRNA. Translation: AAM44121.1.
AY099893 mRNA. Translation: AAM44122.1.
AY101201 mRNA. Translation: AAM48745.1.
AY367065 mRNA. Translation: AAR12641.1.
AY971956 mRNA. Translation: AAY46814.1.
AL353809 Genomic DNA. Translation: CAH72552.1.
CH471067 Genomic DNA. Translation: EAW91274.1.
BC015396 mRNA. Translation: AAH15396.1.
BC034607 mRNA. Translation: AAH34607.1. Different initiation.
AK001411 mRNA. Translation: BAA91676.1. Different initiation.
CCDSiCCDS1389.1. [Q8IZT6-1]
CCDS55672.1. [Q8IZT6-2]
RefSeqiNP_001193775.1. NM_001206846.1. [Q8IZT6-2]
NP_060606.3. NM_018136.4. [Q8IZT6-1]
UniGeneiHs.121028.

Genome annotation databases

EnsembliENST00000294732; ENSP00000294732; ENSG00000066279. [Q8IZT6-2]
ENST00000367409; ENSP00000356379; ENSG00000066279. [Q8IZT6-1]
GeneIDi259266.
KEGGihsa:259266.
UCSCiuc001gtu.4. human. [Q8IZT6-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AF509326 mRNA. Translation: AAN40011.1.
AY099890 mRNA. Translation: AAM44119.1.
AY099891 mRNA. Translation: AAM44120.1.
AY099892 mRNA. Translation: AAM44121.1.
AY099893 mRNA. Translation: AAM44122.1.
AY101201 mRNA. Translation: AAM48745.1.
AY367065 mRNA. Translation: AAR12641.1.
AY971956 mRNA. Translation: AAY46814.1.
AL353809 Genomic DNA. Translation: CAH72552.1.
CH471067 Genomic DNA. Translation: EAW91274.1.
BC015396 mRNA. Translation: AAH15396.1.
BC034607 mRNA. Translation: AAH34607.1. Different initiation.
AK001411 mRNA. Translation: BAA91676.1. Different initiation.
CCDSiCCDS1389.1. [Q8IZT6-1]
CCDS55672.1. [Q8IZT6-2]
RefSeqiNP_001193775.1. NM_001206846.1. [Q8IZT6-2]
NP_060606.3. NM_018136.4. [Q8IZT6-1]
UniGeneiHs.121028.

3D structure databases

ProteinModelPortaliQ8IZT6.
SMRiQ8IZT6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129236. 71 interactors.
IntActiQ8IZT6. 25 interactors.
MINTiMINT-3038606.
STRINGi9606.ENSP00000356379.

PTM databases

iPTMnetiQ8IZT6.
PhosphoSitePlusiQ8IZT6.

Polymorphism and mutation databases

BioMutaiASPM.
DMDMi215273935.

Proteomic databases

EPDiQ8IZT6.
MaxQBiQ8IZT6.
PaxDbiQ8IZT6.
PeptideAtlasiQ8IZT6.
PRIDEiQ8IZT6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000294732; ENSP00000294732; ENSG00000066279. [Q8IZT6-2]
ENST00000367409; ENSP00000356379; ENSG00000066279. [Q8IZT6-1]
GeneIDi259266.
KEGGihsa:259266.
UCSCiuc001gtu.4. human. [Q8IZT6-1]

Organism-specific databases

CTDi259266.
DisGeNETi259266.
GeneCardsiASPM.
GeneReviewsiASPM.
HGNCiHGNC:19048. ASPM.
HPAiCAB017816.
MalaCardsiASPM.
MIMi605481. gene.
608716. phenotype.
neXtProtiNX_Q8IZT6.
OpenTargetsiENSG00000066279.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA38782.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0165. Eukaryota.
ENOG410XSAR. LUCA.
GeneTreeiENSGT00560000077332.
HOGENOMiHOG000034105.
HOVERGENiHBG050595.
InParanoidiQ8IZT6.
KOiK16743.
OMAiQSHFRRW.
OrthoDBiEOG091G0332.
PhylomeDBiQ8IZT6.
TreeFamiTF351180.

Miscellaneous databases

ChiTaRSiASPM. human.
GeneWikiiASPM_(gene).
GenomeRNAii259266.
PROiQ8IZT6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000066279.
ExpressionAtlasiQ8IZT6. baseline and differential.
GenevisibleiQ8IZT6. HS.

Family and domain databases

Gene3Di1.10.418.10. 3 hits.
1.25.10.10. 1 hit.
4.10.270.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR031549. ASH.
IPR029955. ASPM.
IPR001715. CH-domain.
IPR000048. IQ_motif_EF-hand-BS.
IPR027401. Myosin-like_IQ_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11915:SF303. PTHR11915:SF303. 3 hits.
PfamiPF15780. ASH. 1 hit.
PF00307. CH. 1 hit.
PF00612. IQ. 38 hits.
[Graphical view]
SMARTiSM00033. CH. 2 hits.
SM00015. IQ. 63 hits.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 3 hits.
SSF48371. SSF48371. 1 hit.
SSF52540. SSF52540. 18 hits.
PROSITEiPS50021. CH. 2 hits.
PS50096. IQ. 39 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiASPM_HUMAN
AccessioniPrimary (citable) accession number: Q8IZT6
Secondary accession number(s): Q4G1H1
, Q5VYL3, Q86UX4, Q8IUL2, Q8IZJ7, Q8IZJ8, Q8IZJ9, Q8N4D1, Q9NVS1, Q9NVT6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 141 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

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.