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Q8IZT6 (ASPM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Abnormal spindle-like microcephaly-associated protein
Alternative name(s):
Abnormal spindle protein homolog
Short name=Asp homolog
Gene names
Name:ASPM
Synonyms:MCPH5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3477 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Cytoplasmcytoskeletonspindle. 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 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.
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 processCell cycle
Cell division
Mitosis
   Cellular componentCytoplasm
Cytoskeleton
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseMental retardation
Primary microcephaly
   DomainCoiled coil
Repeat
   LigandCalmodulin-binding
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processdevelopmental growth

Inferred from electronic annotation. Source: Ensembl

forebrain neuroblast division

Inferred from electronic annotation. Source: Ensembl

maintenance of centrosome location

Inferred from electronic annotation. Source: Ensembl

mitotic nuclear division

Inferred from electronic annotation. Source: UniProtKB-KW

negative regulation of asymmetric cell division

Inferred from electronic annotation. Source: Ensembl

negative regulation of neuron differentiation

Inferred from electronic annotation. Source: Ensembl

neuron migration

Inferred from electronic annotation. Source: Ensembl

oogenesis

Inferred from electronic annotation. Source: Ensembl

positive regulation of canonical Wnt signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of neuroblast proliferation

Inferred from electronic annotation. Source: Ensembl

spermatogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

midbody

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

spindle pole

Inferred from electronic annotation. Source: Ensembl

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 34773477Abnormal spindle-like microcephaly-associated protein
PRO_0000191332

Regions

Domain920 – 1056137CH 1
Domain1110 – 1224115CH 2
Domain1347 – 137832IQ 1
Domain1393 – 142230IQ 2
Domain1582 – 161332IQ 3
Domain1632 – 166130IQ 4
Domain1655 – 168430IQ 5
Domain1728 – 175730IQ 6
Domain1751 – 178232IQ 7
Domain1801 – 183030IQ 8
Domain1824 – 185330IQ 9
Domain1874 – 190330IQ 10
Domain1897 – 192832IQ 11
Domain1947 – 197832IQ 12
Domain1970 – 200132IQ 13
Domain2020 – 204930IQ 14
Domain2043 – 207432IQ 15
Domain2093 – 212432IQ 16
Domain2116 – 214732IQ 17
Domain2166 – 219732IQ 18
Domain2189 – 221830IQ 19
Domain2239 – 227032IQ 20
Domain2262 – 229332IQ 21
Domain2311 – 234232IQ 22
Domain2334 – 236532IQ 23
Domain2384 – 241532IQ 24
Domain2407 – 243832IQ 25
Domain2457 – 248832IQ 26
Domain2530 – 256132IQ 27
Domain2624 – 265330IQ 28
Domain2665 – 269632IQ 29
Domain2688 – 271932IQ 30
Domain2738 – 276730IQ 31
Domain2859 – 289032IQ 32
Domain2909 – 293830IQ 33
Domain2932 – 296332IQ 34
Domain2954 – 298532IQ 35
Domain3029 – 306032IQ 36
Domain3079 – 311032IQ 37
Domain3181 – 321030IQ 38
Domain3204 – 323532IQ 39
Coiled coil1057 – 107822 Potential

Amino acid modifications

Modified residue2801Phosphoserine Ref.11 Ref.13
Modified residue2831Phosphoserine Ref.11 Ref.13
Modified residue3671Phosphoserine Ref.12
Modified residue3921Phosphoserine Ref.10 Ref.12 Ref.13
Modified residue4251Phosphoserine Ref.9 Ref.11
Modified residue11031Phosphoserine Ref.11

Natural variations

Alternative sequence1356 – 29401585Missing in isoform 2.
VSP_010680
Natural variant3131I → V.
Corresponds to variant rs12025066 [ dbSNP | Ensembl ].
VAR_047263
Natural variant4301R → G.
Corresponds to variant rs6428388 [ dbSNP | Ensembl ].
VAR_024369
Natural variant8691T → S.
Corresponds to variant rs7551108 [ dbSNP | Ensembl ].
VAR_046758
Natural variant10901S → F. Ref.6
Corresponds to variant rs16841081 [ dbSNP | Ensembl ].
VAR_046759
Natural variant24941Y → H. Ref.1 Ref.2
Corresponds to variant rs964201 [ dbSNP | Ensembl ].
VAR_046760
Natural variant25621S → G. Ref.8
Corresponds to variant rs41310927 [ dbSNP | Ensembl ].
VAR_019084
Natural variant26201Q → H.
Corresponds to variant rs12138336 [ dbSNP | Ensembl ].
VAR_046761
Natural variant26471L → I. Ref.8 Ref.14
Corresponds to variant rs3762271 [ dbSNP | Ensembl ].
VAR_019085
Natural variant31321L → R. Ref.8
Corresponds to variant rs36004306 [ dbSNP | Ensembl ].
VAR_019086
Natural variant32581H → R.
Corresponds to variant rs7528827 [ dbSNP | Ensembl ].
VAR_046762

Experimental info

Sequence conflict23551Q → R in AAN40011. Ref.1
Sequence conflict23551Q → R in AAR12641. Ref.2
Sequence conflict29771I → V in BAA91676. Ref.7
Sequence conflict30491F → S in BAA91676. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 25, 2008. Version 2.
Checksum: EB6EDAD3FF186108

FASTA3,477409,800
        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 

« Hide

Isoform 2 [UniParc].

Checksum: D6ED2A4B2DEAB0EF
Show »

FASTA1,892217,794

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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, 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]"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, 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.
+Additional computationally mapped references.

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.
CCDSCCDS1389.1. [Q8IZT6-1]
CCDS55672.1. [Q8IZT6-2]
RefSeqNP_001193775.1. NM_001206846.1. [Q8IZT6-2]
NP_060606.3. NM_018136.4. [Q8IZT6-1]
UniGeneHs.121028.

3D structure databases

ProteinModelPortalQ8IZT6.
SMRQ8IZT6. Positions 1349-1384, 1417-1457, 1468-1500.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129236. 10 interactions.
IntActQ8IZT6. 1 interaction.
MINTMINT-3038606.

PTM databases

PhosphoSiteQ8IZT6.

Polymorphism databases

DMDM215273935.

Proteomic databases

MaxQBQ8IZT6.
PaxDbQ8IZT6.
PRIDEQ8IZT6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000294732; ENSP00000294732; ENSG00000066279. [Q8IZT6-2]
ENST00000367409; ENSP00000356379; ENSG00000066279. [Q8IZT6-1]
GeneID259266.
KEGGhsa:259266.
UCSCuc001gtu.3. human. [Q8IZT6-1]
uc001gtv.3. human. [Q8IZT6-2]

Organism-specific databases

CTD259266.
GeneCardsGC01M197053.
GeneReviewsASPM.
HGNCHGNC:19048. ASPM.
HPACAB017816.
MIM605481. gene.
608716. phenotype.
neXtProtNX_Q8IZT6.
Orphanet2512. Autosomal recessive primary microcephaly.
PharmGKBPA38782.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG331069.
HOVERGENHBG050595.
InParanoidQ8IZT6.
KOK16743.
OMAIQVRYRA.
OrthoDBEOG73JKTH.
PhylomeDBQ8IZT6.
TreeFamTF351180.

Gene expression databases

ArrayExpressQ8IZT6.
BgeeQ8IZT6.
GenevestigatorQ8IZT6.

Family and domain databases

Gene3D1.10.418.10. 3 hits.
InterProIPR016024. ARM-type_fold.
IPR022613. CAMSAP_CH.
IPR001715. CH-domain.
IPR000048. IQ_motif_EF-hand-BS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF11971. CAMSAP_CH. 1 hit.
PF00612. IQ. 38 hits.
[Graphical view]
SMARTSM00033. CH. 2 hits.
SM00015. IQ. 63 hits.
[Graphical view]
SUPFAMSSF47576. SSF47576. 3 hits.
SSF48371. SSF48371. 1 hit.
SSF52540. SSF52540. 18 hits.
PROSITEPS50021. CH. 2 hits.
PS50096. IQ. 39 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiASPM_(gene).
GenomeRNAi259266.
NextBio93091.
PROQ8IZT6.
SOURCESearch...

Entry information

Entry nameASPM_HUMAN
AccessionPrimary (citable) accession number: Q8IZT6
Secondary accession number(s): Q4G1H1 expand/collapse secondary AC list , 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: July 9, 2014
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM