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Q8IZT6

- ASPM_HUMAN

UniProt

Q8IZT6 - ASPM_HUMAN

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Protein

Abnormal spindle-like microcephaly-associated protein

Gene

ASPM

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. developmental growth Source: Ensembl
  2. forebrain neuroblast division Source: Ensembl
  3. maintenance of centrosome location Source: Ensembl
  4. mitotic nuclear division Source: UniProtKB-KW
  5. negative regulation of asymmetric cell division Source: Ensembl
  6. negative regulation of neuron differentiation Source: Ensembl
  7. neuron migration Source: Ensembl
  8. oogenesis Source: Ensembl
  9. positive regulation of canonical Wnt signaling pathway Source: Ensembl
  10. positive regulation of neuroblast proliferation Source: Ensembl
  11. spermatogenesis Source: Ensembl
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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:19048. ASPM.

Subcellular locationi

Cytoplasm By similarity. Cytoplasmcytoskeletonspindle 1 Publication. Nucleus By similarity
Note: The nuclear-cytoplasmic distribution could be regulated by the availability of calmodulin (By similarity). Localizes to spindle poles during mitosis.By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. midbody Source: Ensembl
  3. nucleus Source: UniProtKB-KW
  4. spindle pole Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Microcephaly 5, primary, autosomal recessive (MCPH5) [MIM:608716]: 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Mental retardation, Primary microcephaly

Organism-specific databases

MIMi608716. phenotype.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA38782.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 34773477Abnormal spindle-like microcephaly-associated proteinPRO_0000191332Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei280 – 2801Phosphoserine2 Publications
Modified residuei283 – 2831Phosphoserine2 Publications
Modified residuei367 – 3671Phosphoserine1 Publication
Modified residuei392 – 3921Phosphoserine3 Publications
Modified residuei425 – 4251Phosphoserine2 Publications
Modified residuei1103 – 11031Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8IZT6.
PaxDbiQ8IZT6.
PRIDEiQ8IZT6.

PTM databases

PhosphoSiteiQ8IZT6.

Expressioni

Gene expression databases

BgeeiQ8IZT6.
ExpressionAtlasiQ8IZT6. baseline and differential.
GenevestigatoriQ8IZT6.

Organism-specific databases

HPAiCAB017816.

Interactioni

Protein-protein interaction databases

BioGridi129236. 21 interactions.
IntActiQ8IZT6. 1 interaction.
MINTiMINT-3038606.

Structurei

3D structure databases

ProteinModelPortaliQ8IZT6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini920 – 1056137CH 1PROSITE-ProRule annotationAdd
BLAST
Domaini1110 – 1224115CH 2PROSITE-ProRule annotationAdd
BLAST
Domaini1347 – 137832IQ 1PROSITE-ProRule annotationAdd
BLAST
Domaini1393 – 142230IQ 2PROSITE-ProRule annotationAdd
BLAST
Domaini1582 – 161332IQ 3PROSITE-ProRule annotationAdd
BLAST
Domaini1632 – 166130IQ 4PROSITE-ProRule annotationAdd
BLAST
Domaini1655 – 168430IQ 5PROSITE-ProRule annotationAdd
BLAST
Domaini1728 – 175730IQ 6PROSITE-ProRule annotationAdd
BLAST
Domaini1751 – 178232IQ 7PROSITE-ProRule annotationAdd
BLAST
Domaini1801 – 183030IQ 8PROSITE-ProRule annotationAdd
BLAST
Domaini1824 – 185330IQ 9PROSITE-ProRule annotationAdd
BLAST
Domaini1874 – 190330IQ 10PROSITE-ProRule annotationAdd
BLAST
Domaini1897 – 192832IQ 11PROSITE-ProRule annotationAdd
BLAST
Domaini1947 – 197832IQ 12PROSITE-ProRule annotationAdd
BLAST
Domaini1970 – 200132IQ 13PROSITE-ProRule annotationAdd
BLAST
Domaini2020 – 204930IQ 14PROSITE-ProRule annotationAdd
BLAST
Domaini2043 – 207432IQ 15PROSITE-ProRule annotationAdd
BLAST
Domaini2093 – 212432IQ 16PROSITE-ProRule annotationAdd
BLAST
Domaini2116 – 214732IQ 17PROSITE-ProRule annotationAdd
BLAST
Domaini2166 – 219732IQ 18PROSITE-ProRule annotationAdd
BLAST
Domaini2189 – 221830IQ 19PROSITE-ProRule annotationAdd
BLAST
Domaini2239 – 227032IQ 20PROSITE-ProRule annotationAdd
BLAST
Domaini2262 – 229332IQ 21PROSITE-ProRule annotationAdd
BLAST
Domaini2311 – 234232IQ 22PROSITE-ProRule annotationAdd
BLAST
Domaini2334 – 236532IQ 23PROSITE-ProRule annotationAdd
BLAST
Domaini2384 – 241532IQ 24PROSITE-ProRule annotationAdd
BLAST
Domaini2407 – 243832IQ 25PROSITE-ProRule annotationAdd
BLAST
Domaini2457 – 248832IQ 26PROSITE-ProRule annotationAdd
BLAST
Domaini2530 – 256132IQ 27PROSITE-ProRule annotationAdd
BLAST
Domaini2624 – 265330IQ 28PROSITE-ProRule annotationAdd
BLAST
Domaini2665 – 269632IQ 29PROSITE-ProRule annotationAdd
BLAST
Domaini2688 – 271932IQ 30PROSITE-ProRule annotationAdd
BLAST
Domaini2738 – 276730IQ 31PROSITE-ProRule annotationAdd
BLAST
Domaini2859 – 289032IQ 32PROSITE-ProRule annotationAdd
BLAST
Domaini2909 – 293830IQ 33PROSITE-ProRule annotationAdd
BLAST
Domaini2932 – 296332IQ 34PROSITE-ProRule annotationAdd
BLAST
Domaini2954 – 298532IQ 35PROSITE-ProRule annotationAdd
BLAST
Domaini3029 – 306032IQ 36PROSITE-ProRule annotationAdd
BLAST
Domaini3079 – 311032IQ 37PROSITE-ProRule annotationAdd
BLAST
Domaini3181 – 321030IQ 38PROSITE-ProRule annotationAdd
BLAST
Domaini3204 – 323532IQ 39PROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1057 – 107822Sequence AnalysisAdd
BLAST

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

eggNOGiNOG331069.
GeneTreeiENSGT00560000077332.
HOVERGENiHBG050595.
InParanoidiQ8IZT6.
KOiK16743.
OMAiIQVRYRA.
OrthoDBiEOG73JKTH.
PhylomeDBiQ8IZT6.
TreeFamiTF351180.

Family and domain databases

Gene3Di1.10.418.10. 3 hits.
InterProiIPR016024. ARM-type_fold.
IPR022613. CAMSAP_CH.
IPR001715. CH-domain.
IPR000048. IQ_motif_EF-hand-BS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF11971. CAMSAP_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. Align

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 AAH34607.1 differs from that shown. Reason: Erroneous initiation.
The sequence BAA91676.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2355 – 23551Q → R in AAN40011. (PubMed:12355089)Curated
Sequence conflicti2355 – 23551Q → R in AAR12641. (PubMed:14704186)Curated
Sequence conflicti2977 – 29771I → V in BAA91676. (PubMed:14702039)Curated
Sequence conflicti3049 – 30491F → S in BAA91676. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti313 – 3131I → V.
Corresponds to variant rs12025066 [ dbSNP | Ensembl ].
VAR_047263
Natural varianti430 – 4301R → G.
Corresponds to variant rs6428388 [ dbSNP | Ensembl ].
VAR_024369
Natural varianti869 – 8691T → S.
Corresponds to variant rs7551108 [ dbSNP | Ensembl ].
VAR_046758
Natural varianti1090 – 10901S → F.1 Publication
Corresponds to variant rs16841081 [ dbSNP | Ensembl ].
VAR_046759
Natural varianti2494 – 24941Y → H.2 Publications
Corresponds to variant rs964201 [ dbSNP | Ensembl ].
VAR_046760
Natural varianti2562 – 25621S → G.1 Publication
Corresponds to variant rs41310927 [ dbSNP | Ensembl ].
VAR_019084
Natural varianti2620 – 26201Q → H.
Corresponds to variant rs12138336 [ dbSNP | Ensembl ].
VAR_046761
Natural varianti2647 – 26471L → I.2 Publications
Corresponds to variant rs3762271 [ dbSNP | Ensembl ].
VAR_019085
Natural varianti3132 – 31321L → R.1 Publication
Corresponds to variant rs36004306 [ dbSNP | Ensembl ].
VAR_019086
Natural varianti3258 – 32581H → R.
Corresponds to variant rs7528827 [ dbSNP | Ensembl ].
VAR_046762

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1356 – 29401585Missing in isoform 2. 2 PublicationsVSP_010680Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q8IZT6-1]
uc001gtv.3. human. [Q8IZT6-2]

Polymorphism databases

DMDMi215273935.

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:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS1389.1. [Q8IZT6-1 ]
CCDS55672.1. [Q8IZT6-2 ]
RefSeqi NP_001193775.1. NM_001206846.1. [Q8IZT6-2 ]
NP_060606.3. NM_018136.4. [Q8IZT6-1 ]
UniGenei Hs.121028.

3D structure databases

ProteinModelPortali Q8IZT6.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129236. 21 interactions.
IntActi Q8IZT6. 1 interaction.
MINTi MINT-3038606.

PTM databases

PhosphoSitei Q8IZT6.

Polymorphism databases

DMDMi 215273935.

Proteomic databases

MaxQBi Q8IZT6.
PaxDbi Q8IZT6.
PRIDEi Q8IZT6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000294732 ; ENSP00000294732 ; ENSG00000066279 . [Q8IZT6-2 ]
ENST00000367409 ; ENSP00000356379 ; ENSG00000066279 . [Q8IZT6-1 ]
GeneIDi 259266.
KEGGi hsa:259266.
UCSCi uc001gtu.3. human. [Q8IZT6-1 ]
uc001gtv.3. human. [Q8IZT6-2 ]

Organism-specific databases

CTDi 259266.
GeneCardsi GC01M197053.
GeneReviewsi ASPM.
HGNCi HGNC:19048. ASPM.
HPAi CAB017816.
MIMi 605481. gene.
608716. phenotype.
neXtProti NX_Q8IZT6.
Orphaneti 2512. Autosomal recessive primary microcephaly.
PharmGKBi PA38782.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG331069.
GeneTreei ENSGT00560000077332.
HOVERGENi HBG050595.
InParanoidi Q8IZT6.
KOi K16743.
OMAi IQVRYRA.
OrthoDBi EOG73JKTH.
PhylomeDBi Q8IZT6.
TreeFami TF351180.

Miscellaneous databases

GeneWikii ASPM_(gene).
GenomeRNAii 259266.
NextBioi 93091.
PROi Q8IZT6.
SOURCEi Search...

Gene expression databases

Bgeei Q8IZT6.
ExpressionAtlasi Q8IZT6. baseline and differential.
Genevestigatori Q8IZT6.

Family and domain databases

Gene3Di 1.10.418.10. 3 hits.
InterProi IPR016024. ARM-type_fold.
IPR022613. CAMSAP_CH.
IPR001715. CH-domain.
IPR000048. IQ_motif_EF-hand-BS.
IPR027417. P-loop_NTPase.
[Graphical view ]
Pfami PF11971. CAMSAP_CH. 1 hit.
PF00612. IQ. 38 hits.
[Graphical view ]
SMARTi SM00033. CH. 2 hits.
SM00015. IQ. 63 hits.
[Graphical view ]
SUPFAMi SSF47576. SSF47576. 3 hits.
SSF48371. SSF48371. 1 hit.
SSF52540. SSF52540. 18 hits.
PROSITEi PS50021. CH. 2 hits.
PS50096. IQ. 39 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INVOLVEMENT IN MCPH5, VARIANT HIS-2494.
    Tissue: Colon adenocarcinoma and Fetal brain.
  2. "Evolution of the human ASPM gene, a major determinant of brain size."
    Zhang J.
    Genetics 165:2063-2070(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT HIS-2494.
  3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, ALTERNATIVE SPLICING, SUBCELLULAR LOCATION.
  4. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-147 AND 709-3477 (ISOFORM 2), VARIANT PHE-1090.
    Tissue: Kidney and Lymph.
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2740-3477 (ISOFORM 1).
  8. Cited for: INVOLVEMENT IN MCPH5, VARIANTS GLY-2562; ILE-2647 AND ARG-3132.
  9. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-425, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "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-392, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-280; SER-283; SER-425 AND SER-1103, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. "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-367 AND SER-392, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  13. "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 SER-280; SER-283 AND SER-392, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  14. "A common SNP of MCPH1 is associated with cranial volume variation in Chinese population."
    Wang J.-K., Li Y., Su B.
    Hum. Mol. Genet. 17:1329-1335(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ILE-2647.

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: October 29, 2014
This is version 119 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

External Data

Dasty 3