Q8IZT6 (ASPM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Abnormal spindle-like microcephaly-associated protein

Alternative name(s):
Abnormal spindle protein homolog
Short name=Asp homolog

Gene names

Name:	ASPM
Synonyms:	MCPH5

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	3477 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis. Ref.1 Ref.3
Subcellular location	Cytoplasm By similarity. Cytoplasm › cytoskeleton › spindle. Nucleus By similarity. Note: The nuclear-cytoplasmic distribution could be regulated by the availability of calmodulin By similarity. Localizes to spindle poles during mitosis. Ref.3
Involvement in disease	Microcephaly, primary, 5 (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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.8
Sequence similarities	Contains 2 CH (calponin-homology) domains. Contains 39 IQ domains.
Sequence caution	The sequence AAH34607.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA91676.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Cell cycle Cell division Mitosis
Cellular component	Cytoplasm Cytoskeleton Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Primary microcephaly
Domain	Coiled coil Repeat
Ligand	Calmodulin-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	developmental growth Inferred from electronic annotation. Source: Compara forebrain neuroblast division Inferred from electronic annotation. Source: Compara maintenance of centrosome location Inferred from electronic annotation. Source: Compara mitosis Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of asymmetric cell division Inferred from electronic annotation. Source: Compara negative regulation of neuron differentiation Inferred from electronic annotation. Source: Compara neuron migration Inferred from electronic annotation. Source: Compara oogenesis Inferred from electronic annotation. Source: Compara positive regulation of canonical Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara positive regulation of neuroblast proliferation Inferred from electronic annotation. Source: Compara spermatogenesis Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell midbody Inferred from electronic annotation. Source: Compara nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell spindle pole Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8IZT6-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8IZT6-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 3477	3477	Abnormal spindle-like microcephaly-associated protein		PRO_0000191332
Regions
	Domain	920 – 1056	137	CH 1
	Domain	1110 – 1224	115	CH 2
	Domain	1347 – 1378	32	IQ 1
	Domain	1393 – 1422	30	IQ 2
	Domain	1582 – 1613	32	IQ 3
	Domain	1632 – 1661	30	IQ 4
	Domain	1655 – 1684	30	IQ 5
	Domain	1728 – 1757	30	IQ 6
	Domain	1751 – 1782	32	IQ 7
	Domain	1801 – 1830	30	IQ 8
	Domain	1824 – 1853	30	IQ 9
	Domain	1874 – 1903	30	IQ 10
	Domain	1897 – 1928	32	IQ 11
	Domain	1947 – 1978	32	IQ 12
	Domain	1970 – 2001	32	IQ 13
	Domain	2020 – 2049	30	IQ 14
	Domain	2043 – 2074	32	IQ 15
	Domain	2093 – 2124	32	IQ 16
	Domain	2116 – 2147	32	IQ 17
	Domain	2166 – 2197	32	IQ 18
	Domain	2189 – 2218	30	IQ 19
	Domain	2239 – 2270	32	IQ 20
	Domain	2262 – 2293	32	IQ 21
	Domain	2311 – 2342	32	IQ 22
	Domain	2334 – 2365	32	IQ 23
	Domain	2384 – 2415	32	IQ 24
	Domain	2407 – 2438	32	IQ 25
	Domain	2457 – 2488	32	IQ 26
	Domain	2530 – 2561	32	IQ 27
	Domain	2624 – 2653	30	IQ 28
	Domain	2665 – 2696	32	IQ 29
	Domain	2688 – 2719	32	IQ 30
	Domain	2738 – 2767	30	IQ 31
	Domain	2859 – 2890	32	IQ 32
	Domain	2909 – 2938	30	IQ 33
	Domain	2932 – 2963	32	IQ 34
	Domain	2954 – 2985	32	IQ 35
	Domain	3029 – 3060	32	IQ 36
	Domain	3079 – 3110	32	IQ 37
	Domain	3181 – 3210	30	IQ 38
	Domain	3204 – 3235	32	IQ 39
	Coiled coil	1057 – 1078	22	Potential
Amino acid modifications
	Modified residue	280	1	Phosphoserine Ref.11 Ref.13
	Modified residue	283	1	Phosphoserine Ref.11 Ref.13
	Modified residue	367	1	Phosphoserine Ref.12
	Modified residue	392	1	Phosphoserine Ref.10 Ref.12 Ref.13
	Modified residue	425	1	Phosphoserine Ref.9 Ref.11
	Modified residue	1103	1	Phosphoserine Ref.11
Natural variations
	Alternative sequence	1356 – 2940	1585	Missing in isoform 2.		VSP_010680
	Natural variant	313	1	I → V. Corresponds to variant rs12025066 [ dbSNP | Ensembl ].		VAR_047263
	Natural variant	430	1	R → G. Corresponds to variant rs6428388 [ dbSNP | Ensembl ].		VAR_024369
	Natural variant	869	1	T → S. Corresponds to variant rs7551108 [ dbSNP | Ensembl ].		VAR_046758
	Natural variant	1090	1	S → F. Ref.6 Corresponds to variant rs16841081 [ dbSNP | Ensembl ].		VAR_046759
	Natural variant	2494	1	Y → H. Ref.1 Ref.2 Corresponds to variant rs964201 [ dbSNP | Ensembl ].		VAR_046760
	Natural variant	2562	1	S → G. Ref.8 Corresponds to variant rs41310927 [ dbSNP | Ensembl ].		VAR_019084
	Natural variant	2620	1	Q → H. Corresponds to variant rs12138336 [ dbSNP | Ensembl ].		VAR_046761
	Natural variant	2647	1	L → I. Ref.8 Ref.14 Corresponds to variant rs3762271 [ dbSNP | Ensembl ].		VAR_019085
	Natural variant	3132	1	L → R. Ref.8 Corresponds to variant rs36004306 [ dbSNP | Ensembl ].		VAR_019086
	Natural variant	3258	1	H → R. Corresponds to variant rs7528827 [ dbSNP | Ensembl ].		VAR_046762
Experimental info
	Sequence conflict	2355	1	Q → R in AAN40011. Ref.1
	Sequence conflict	2355	1	Q → R in AAR12641. Ref.2
	Sequence conflict	2977	1	I → V in BAA91676. Ref.7
	Sequence conflict	3049	1	F → S in BAA91676. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 25, 2008. Version 2. Checksum: EB6EDAD3FF186108	FASTA	3,477	409,800
	10 20 30 40 50 60 MANRRVGRGC WEVSPTERRP PAGLRGPAAE EEASSPPVLS LSHFCRSPFL CFGDVLLGAS 70 80 90 100 110 120 RTLSLALDNP NEEVAEVKIS HFPAADLGFS VSQRCFVLQP KEKIVISVNW TPLKEGRVRE 130 140 150 160 170 180 IMTFLVNDVL KHQAILLGNA EEQKKKKRSL WDTIKKKKIS ASTSHNRRVS NIQNVNKTFS 190 200 210 220 230 240 VSQKVDRVRS PLQACENLAM NEGGPPTENN SLILEENKIP ISPISPAFNE CHGATCLPLS 250 260 270 280 290 300 VRRSTTYSSL HASENRELLN VHSANVSKVS FNEKAVTETS FNSVNVNGQR GENSKLSLTP 310 320 330 340 350 360 NCSSTLNITQ SQIHFLSPDS FVNNSHGANN ELELVTCLSS DMFMKDNSQP VHLESTIAHE 370 380 390 400 410 420 IYQKILSPDS FIKDNYGLNQ DLESESVNPI LSPNQFLKDN MAYMCTSQQT CKVPLSNENS 430 440 450 460 470 480 QVPQSPEDWR KSEVSPRIPE CQGSKSPKAI FEELVEMKSN YYSFIKQNNP KFSAVQDISS 490 500 510 520 530 540 HSHNKQPKRR PILSATVTKR KATCTRENQT EINKPKAKRC LNSAVGEHEK VINNQKEKED 550 560 570 580 590 600 FHSYLPIIDP ILSKSKSYKN EVTPSSTTAS VARKRKSDGS MEDANVRVAI TEHTEVREIK 610 620 630 640 650 660 RIHFSPSEPK TSAVKKTKNV TTPISKRISN REKLNLKKKT DLSIFRTPIS KTNKRTKPII 670 680 690 700 710 720 AVAQSSLTFI KPLKTDIPRH PMPFAAKNMF YDERWKEKQE QGFTWWLNFI LTPDDFTVKT 730 740 750 760 770 780 NISEVNAATL LLGIENQHKI SVPRAPTKEE MSLRAYTARC RLNRLRRAAC RLFTSEKMVK 790 800 810 820 830 840 AIKKLEIEIE ARRLIVRKDR HLWKDVGERQ KVLNWLLSYN PLWLRIGLET TYGELISLED 850 860 870 880 890 900 NSDVTGLAMF ILNRLLWNPD IAAEYRHPTV PHLYRDGHEE ALSKFTLKKL LLLVCFLDYA 910 920 930 940 950 960 KISRLIDHDP CLFCKDAEFK ASKEILLAFS RDFLSGEGDL SRHLGLLGLP VNHVQTPFDE 970 980 990 1000 1010 1020 FDFAVTNLAV DLQCGVRLVR TMELLTQNWD LSKKLRIPAI SRLQKMHNVD IVLQVLKSRG 1030 1040 1050 1060 1070 1080 IELSDEHGNT ILSKDIVDRH REKTLRLLWK IAFAFQVDIS LNLDQLKEEI AFLKHTKSIK 1090 1100 1110 1120 1130 1140 KTISLLSCHS DDLINKKKGK RDSGSFEQYS ENIKLLMDWV NAVCAFYNKK VENFTVSFSD 1150 1160 1170 1180 1190 1200 GRVLCYLIHH YHPCYVPFDA ICQRTTQTVE CTQTGSVVLN SSSESDDSSL DMSLKAFDHE 1210 1220 1230 1240 1250 1260 NTSELYKELL ENEKKNFHLV RSAVRDLGGI PAMINHSDMS NTIPDEKVVI TYLSFLCARL 1270 1280 1290 1300 1310 1320 LDLRKEIRAA RLIQTTWRKY KLKTDLKRHQ EREKAARIIQ LAVINFLAKQ RLRKRVNAAL 1330 1340 1350 1360 1370 1380 VIQKYWRRVL AQRKLLMLKK EKLEKVQNKA ASLIQGYWRR YSTRQRFLKL KYYSIILQSR 1390 1400 1410 1420 1430 1440 IRMIIAVTSY KRYLWATVTI QRHWRAYLRR KQDQQRYEML KSSTLIIQSM FRKWKQRKMQ 1450 1460 1470 1480 1490 1500 SQVKATVILQ RAFREWHLRK QAKEENSAII IQSWYRMHKE LRKYIYIRSC VVIIQKRFRC 1510 1520 1530 1540 1550 1560 FQAQKLYKRR KESILTIQKY YKAYLKGKIE RTNYLQKRAA AIQLQAAFRR LKAHNLCRQI 1570 1580 1590 1600 1610 1620 RAACVIQSYW RMRQDRVRFL NLKKTIIKFQ AHVRKHQQRQ KYKKMKKAAV IIQTHFRAYI 1630 1640 1650 1660 1670 1680 FAMKVLASYQ KTRSAVIVLQ SAYRGMQARK MYIHILTSVI KIQSYYRAYV SKKEFLSLKN 1690 1700 1710 1720 1730 1740 ATIKLQSTVK MKQTRKQYLH LRAAALFIQQ CYRSKKIAAQ KREEYMQMRE SCIKLQAFVR 1750 1760 1770 1780 1790 1800 GYLVRKQMRL QRKAVISLQS YFRMRKARQY YLKMYKAIIV IQNYYHAYKA QVNQRKNFLQ 1810 1820 1830 1840 1850 1860 VKKAATCLQA AYRGYKVRQL IKQQSIAALK IQSAFRGYNK RVKYQSVLQS IIKIQRWYRA 1870 1880 1890 1900 1910 1920 YKTLHDTRTH FLKTKAAVIS LQSAYRGWKV RKQIRREHQA ALKIQSAFRM AKAQKQFRLF 1930 1940 1950 1960 1970 1980 KTAALVIQQN FRAWTAGRKQ CMEYIELRHA VLVLQSMWKG KTLRRQLQRQ HKCAIIIQSY 1990 2000 2010 2020 2030 2040 YRMHVQQKKW KIMKKAALLI QKYYRAYSIG REQNHLYLKT KAAVVTLQSA YRGMKVRKRI 2050 2060 2070 2080 2090 2100 KDCNKAAVTI QSKYRAYKTK KKYATYRASA IIIQRWYRGI KITNHQHKEY LNLKKTAIKI 2110 2120 2130 2140 2150 2160 QSVYRGIRVR RHIQHMHRAA TFIKAMFKMH QSRISYHTMR KAAIVIQVRC RAYYQGKMQR 2170 2180 2190 2200 2210 2220 EKYLTILKAV KVLQASFRGV RVRRTLRKMQ TAATLIQSNY RRYRQQTYFN KLKKITKTVQ 2230 2240 2250 2260 2270 2280 QRYWAMKERN IQFQRYNKLR HSVIYIQAIF RGKKARRHLK MMHIAATLIQ RRFRTLMMRR 2290 2300 2310 2320 2330 2340 RFLSLKKTAI LIQRKYRAHL CTKHHLQFLQ VQNAVIKIQS SYRRWMIRKR MREMHRAATF 2350 2360 2370 2380 2390 2400 IQSTFRMHRL HMRYQALKQA SVVIQQQYQA NRAAKLQRQH YLRQRHSAVI LQAAFRGMKT 2410 2420 2430 2440 2450 2460 RRHLKSMHSS ATLIQSRFRS LLVRRRFISL KKATIFVQRK YRATICAKHK LYQFLHLRKA 2470 2480 2490 2500 2510 2520 AITIQSSYRR LMVKKKLQEM QRAAVLIQAT FRMYRTYITF QTWKHASILI QQHYRTYRAA 2530 2540 2550 2560 2570 2580 KLQRENYIRQ WHSAVVIQAA YKGMKARQLL REKHKASIVI QSTYRMYRQY CFYQKLQWAT 2590 2600 2610 2620 2630 2640 KIIQEKYRAN KKKQKVFQHN ELKKETCVQA GFQDMNIKKQ IQEQHQAAII IQKHCKAFKI 2650 2660 2670 2680 2690 2700 RKHYLHLRAT VVSIQRRYRK LTAVRTQAVI CIQSYYRGFK VRKDIQNMHR AATLIQSFYR 2710 2720 2730 2740 2750 2760 MHRAKVDYET KKTAIVVIQN YYRLYVRVKT ERKNFLAVQK SVRTIQAAFR GMKVRQKLKN 2770 2780 2790 2800 2810 2820 VSEEKMAAIV NQSALCCYRS KTQYEAVQSE GVMIQEWYKA SGLACSQEAE YHSQSRAAVT 2830 2840 2850 2860 2870 2880 IQKAFCRMVT RKLETQKCAA LRIQFFLQMA VYRRRFVQQK RAAITLQHYF RTWQTRKQFL 2890 2900 2910 2920 2930 2940 LYRKAAVVLQ NHYRAFLSAK HQRQVYLQIR SSVIIIQARS KGFIQKRKFQ EIKNSTIKIQ 2950 2960 2970 2980 2990 3000 AMWRRYRAKK YLCKVKAACK IQAWYRCWRA HKEYLAILKA VKIIQGCFYT KLERTRFLNV 3010 3020 3030 3040 3050 3060 RASAIIIQRK WRAILPAKIA HEHFLMIKRH RAACLIQAHY RGYKGRQVFL RQKSAALIIQ 3070 3080 3090 3100 3110 3120 KYIRAREAGK HERIKYIEFK KSTVILQALV RGWLVRKRFL EQRAKIRLLH FTAAAYYHLN 3130 3140 3150 3160 3170 3180 AVRIQRAYKL YLAVKNANKQ VNSVICIQRW FRARLQEKRF IQKYHSIKKI EHEGQECLSQ 3190 3200 3210 3220 3230 3240 RNRAASVIQK AVRHFLLRKK QEKFTSGIIK IQALWRGYSW RKKNDCTKIK AIRLSLQVVN 3250 3260 3270 3280 3290 3300 REIREENKLY KRTALALHYL LTYKHLSAIL EALKHLEVVT RLSPLCCENM AQSGAISKIF 3310 3320 3330 3340 3350 3360 VLIRSCNRSI PCMEVIRYAV QVLLNVSKYE KTTSAVYDVE NCIDILLELL QIYREKPGNK 3370 3380 3390 3400 3410 3420 VADKGGSIFT KTCCLLAILL KTTNRASDVR SRSKVVDRIY SLYKLTAHKH KMNTERILYK 3430 3440 3450 3460 3470 QKKNSSISIP FIPETPVRTR IVSRLKPDWV LRRDNMEEIT NPLQAIQMVM DTLGIPY
	Isoform 2 [UniParc]. Checksum: D6ED2A4B2DEAB0EF	FASTA	1,892	217,794
	10 20 30 40 50 60 MANRRVGRGC WEVSPTERRP PAGLRGPAAE EEASSPPVLS LSHFCRSPFL CFGDVLLGAS 70 80 90 100 110 120 RTLSLALDNP NEEVAEVKIS HFPAADLGFS VSQRCFVLQP KEKIVISVNW TPLKEGRVRE 130 140 150 160 170 180 IMTFLVNDVL KHQAILLGNA EEQKKKKRSL WDTIKKKKIS ASTSHNRRVS NIQNVNKTFS 190 200 210 220 230 240 VSQKVDRVRS PLQACENLAM NEGGPPTENN SLILEENKIP ISPISPAFNE CHGATCLPLS 250 260 270 280 290 300 VRRSTTYSSL HASENRELLN VHSANVSKVS FNEKAVTETS FNSVNVNGQR GENSKLSLTP 310 320 330 340 350 360 NCSSTLNITQ SQIHFLSPDS FVNNSHGANN ELELVTCLSS DMFMKDNSQP VHLESTIAHE 370 380 390 400 410 420 IYQKILSPDS FIKDNYGLNQ DLESESVNPI LSPNQFLKDN MAYMCTSQQT CKVPLSNENS 430 440 450 460 470 480 QVPQSPEDWR KSEVSPRIPE CQGSKSPKAI FEELVEMKSN YYSFIKQNNP KFSAVQDISS 490 500 510 520 530 540 HSHNKQPKRR PILSATVTKR KATCTRENQT EINKPKAKRC LNSAVGEHEK VINNQKEKED 550 560 570 580 590 600 FHSYLPIIDP ILSKSKSYKN EVTPSSTTAS VARKRKSDGS MEDANVRVAI TEHTEVREIK 610 620 630 640 650 660 RIHFSPSEPK TSAVKKTKNV TTPISKRISN REKLNLKKKT DLSIFRTPIS KTNKRTKPII 670 680 690 700 710 720 AVAQSSLTFI KPLKTDIPRH PMPFAAKNMF YDERWKEKQE QGFTWWLNFI LTPDDFTVKT 730 740 750 760 770 780 NISEVNAATL LLGIENQHKI SVPRAPTKEE MSLRAYTARC RLNRLRRAAC RLFTSEKMVK 790 800 810 820 830 840 AIKKLEIEIE ARRLIVRKDR HLWKDVGERQ KVLNWLLSYN PLWLRIGLET TYGELISLED 850 860 870 880 890 900 NSDVTGLAMF ILNRLLWNPD IAAEYRHPTV PHLYRDGHEE ALSKFTLKKL LLLVCFLDYA 910 920 930 940 950 960 KISRLIDHDP CLFCKDAEFK ASKEILLAFS RDFLSGEGDL SRHLGLLGLP VNHVQTPFDE 970 980 990 1000 1010 1020 FDFAVTNLAV DLQCGVRLVR TMELLTQNWD LSKKLRIPAI SRLQKMHNVD IVLQVLKSRG 1030 1040 1050 1060 1070 1080 IELSDEHGNT ILSKDIVDRH REKTLRLLWK IAFAFQVDIS LNLDQLKEEI AFLKHTKSIK 1090 1100 1110 1120 1130 1140 KTISLLSCHS DDLINKKKGK RDSGSFEQYS ENIKLLMDWV NAVCAFYNKK VENFTVSFSD 1150 1160 1170 1180 1190 1200 GRVLCYLIHH YHPCYVPFDA ICQRTTQTVE CTQTGSVVLN SSSESDDSSL DMSLKAFDHE 1210 1220 1230 1240 1250 1260 NTSELYKELL ENEKKNFHLV RSAVRDLGGI PAMINHSDMS NTIPDEKVVI TYLSFLCARL 1270 1280 1290 1300 1310 1320 LDLRKEIRAA RLIQTTWRKY KLKTDLKRHQ EREKAARIIQ LAVINFLAKQ RLRKRVNAAL 1330 1340 1350 1360 1370 1380 VIQKYWRRVL AQRKLLMLKK EKLEKVQNKA ASLIQAMWRR YRAKKYLCKV KAACKIQAWY 1390 1400 1410 1420 1430 1440 RCWRAHKEYL AILKAVKIIQ GCFYTKLERT RFLNVRASAI IIQRKWRAIL PAKIAHEHFL 1450 1460 1470 1480 1490 1500 MIKRHRAACL IQAHYRGYKG RQVFLRQKSA ALIIQKYIRA REAGKHERIK YIEFKKSTVI 1510 1520 1530 1540 1550 1560 LQALVRGWLV RKRFLEQRAK IRLLHFTAAA YYHLNAVRIQ RAYKLYLAVK NANKQVNSVI 1570 1580 1590 1600 1610 1620 CIQRWFRARL QEKRFIQKYH SIKKIEHEGQ ECLSQRNRAA SVIQKAVRHF LLRKKQEKFT 1630 1640 1650 1660 1670 1680 SGIIKIQALW RGYSWRKKND CTKIKAIRLS LQVVNREIRE ENKLYKRTAL ALHYLLTYKH 1690 1700 1710 1720 1730 1740 LSAILEALKH LEVVTRLSPL CCENMAQSGA ISKIFVLIRS CNRSIPCMEV IRYAVQVLLN 1750 1760 1770 1780 1790 1800 VSKYEKTTSA VYDVENCIDI LLELLQIYRE KPGNKVADKG GSIFTKTCCL LAILLKTTNR 1810 1820 1830 1840 1850 1860 ASDVRSRSKV VDRIYSLYKL TAHKHKMNTE RILYKQKKNS SISIPFIPET PVRTRIVSRL 1870 1880 1890 KPDWVLRRDN MEEITNPLQA IQMVMDTLGI PY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"ASPM is a major determinant of cerebral cortical size." Bond J., Roberts E., Mochida G.H., Hampshire D.J., Scott S., Askham J.M., Springell K., Mahadevan M., Crow Y.J., Markham A.F., Walsh C.A., Woods C.G. Nat. Genet. 32:316-320(2002) [PubMed] [Europe PMC] [Abstract] 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]	"The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein." Kouprina N., Pavlicek A., Collins N.K., Nakano M., Noskov V.N., Ohzeki J.I., Mochida G.H., Risinger J.I., Goldsmith P., Gunsior M., Solomon G., Gersch W., Kim J.H., Barrett J.C., Walsh C.A., Jurka J., Masumoto H., Larionov V. Hum. Mol. Genet. 14:2155-2165(2005) [PubMed] [Europe PMC] [Abstract] 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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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]	"Protein-truncating mutations in ASPM cause variable reduction in brain size." Bond J., Scott S., Hampshire D.J., Springell K., Corry P., Abramowicz M.J., Mochida G.H., Hennekam R.C.M., Maher E.R., Fryns J.-P., Alswaid A., Jafri H., Rashid Y., Mubaidin A., Walsh C.A., Roberts E., Woods C.G. Am. J. Hum. Genet. 73:1170-1177(2003) [PubMed] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-280; SER-283; SER-425 AND SER-1103, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00480042. IPI00743813.
RefSeq	NP_001193775.1. NM_001206846.1. NP_060606.3. NM_018136.4.
UniGene	Hs.121028.
3D structure databases
ProteinModelPortal	Q8IZT6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IZT6. 1 interaction.
PTM databases
PhosphoSite	Q8IZT6.
Polymorphism databases
DMDM	215273935.
Proteomic databases
PaxDb	Q8IZT6.
PRIDE	Q8IZT6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000294732; ENSP00000294732; ENSG00000066279. ENST00000367409; ENSP00000356379; ENSG00000066279.
GeneID	259266.
KEGG	hsa:259266.
UCSC	uc001gtu.3. human.
Organism-specific databases
CTD	259266.
GeneCards	GC01M197053.
HGNC	HGNC:19048. ASPM.
HPA	CAB017816.
MIM	605481. gene. 608716. phenotype.
neXtProt	NX_Q8IZT6.
Orphanet	2512. Autosomal recessive primary microcephaly.
PharmGKB	PA38782.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG331069.
HOVERGEN	HBG050595.
InParanoid	Q8IZT6.
KO	K16743.
OMA	EYRHPTV.
OrthoDB	EOG40CHG2.
PhylomeDB	Q8IZT6.
Gene expression databases
ArrayExpress	Q8IZT6.
Bgee	Q8IZT6.
Genevestigator	Q8IZT6.
GermOnline	ENSG00000066279. Homo sapiens.
Family and domain databases
Gene3D	1.10.418.10. 3 hits.
InterPro	IPR022613. CAMSAP_CH. IPR001715. CH-domain. IPR000048. IQ_motif_EF-hand-BS. [Graphical view]
Pfam	PF11971. CAMSAP_CH. 1 hit. PF00612. IQ. 38 hits. [Graphical view]
SMART	SM00033. CH. 2 hits. SM00015. IQ. 63 hits. [Graphical view]
SUPFAM	SSF47576. Calponin-homology. 1 hit.
PROSITE	PS50021. CH. 2 hits. PS50096. IQ. 39 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	259266.
NextBio	93091.
SOURCE	Search...

Entry information

Entry name

ASPM_HUMAN

Accession

Primary (citable) accession number: Q8IZT6
Secondary accession number(s): Q4G1H1 , Q5VYL3, Q86UX4, Q8IUL2, Q8IZJ7, Q8IZJ8, Q8IZJ9, Q8N4D1, Q9NVS1, Q9NVT6

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 5, 2004
Last sequence update:	November 25, 2008
Last modified:	May 1, 2013
This is version 103 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.