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Q8IZT6

- ASPM_HUMAN

UniProt

Q8IZT6 - ASPM_HUMAN

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Protein
Abnormal spindle-like microcephaly-associated protein
Gene
ASPM, MCPH5
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. Nucleus By similarity
Note: The nuclear-cytoplasmic distribution could be regulated by the availability of calmodulin By similarity. Localizes to spindle poles during mitosis.1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. midbody Source: Ensembl
  3. nucleus Source: UniProtKB-SubCell
  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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications

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 protein
PRO_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

ArrayExpressiQ8IZT6.
BgeeiQ8IZT6.
GenevestigatoriQ8IZT6.

Organism-specific databases

HPAiCAB017816.

Interactioni

Protein-protein interaction databases

BioGridi129236. 10 interactions.
IntActiQ8IZT6. 1 interaction.
MINTiMINT-3038606.

Structurei

3D structure databases

ProteinModelPortaliQ8IZT6.
SMRiQ8IZT6. Positions 1349-1384, 1417-1457, 1468-1500.

Family & Domainsi

Domains and Repeats

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1057 – 107822 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Contains 39 IQ domains.

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiNOG331069.
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

MANRRVGRGC WEVSPTERRP PAGLRGPAAE EEASSPPVLS LSHFCRSPFL     50
CFGDVLLGAS RTLSLALDNP NEEVAEVKIS HFPAADLGFS VSQRCFVLQP 100
KEKIVISVNW TPLKEGRVRE IMTFLVNDVL KHQAILLGNA EEQKKKKRSL 150
WDTIKKKKIS ASTSHNRRVS NIQNVNKTFS VSQKVDRVRS PLQACENLAM 200
NEGGPPTENN SLILEENKIP ISPISPAFNE CHGATCLPLS VRRSTTYSSL 250
HASENRELLN VHSANVSKVS FNEKAVTETS FNSVNVNGQR GENSKLSLTP 300
NCSSTLNITQ SQIHFLSPDS FVNNSHGANN ELELVTCLSS DMFMKDNSQP 350
VHLESTIAHE IYQKILSPDS FIKDNYGLNQ DLESESVNPI LSPNQFLKDN 400
MAYMCTSQQT CKVPLSNENS QVPQSPEDWR KSEVSPRIPE CQGSKSPKAI 450
FEELVEMKSN YYSFIKQNNP KFSAVQDISS HSHNKQPKRR PILSATVTKR 500
KATCTRENQT EINKPKAKRC LNSAVGEHEK VINNQKEKED FHSYLPIIDP 550
ILSKSKSYKN EVTPSSTTAS VARKRKSDGS MEDANVRVAI TEHTEVREIK 600
RIHFSPSEPK TSAVKKTKNV TTPISKRISN REKLNLKKKT DLSIFRTPIS 650
KTNKRTKPII AVAQSSLTFI KPLKTDIPRH PMPFAAKNMF YDERWKEKQE 700
QGFTWWLNFI LTPDDFTVKT NISEVNAATL LLGIENQHKI SVPRAPTKEE 750
MSLRAYTARC RLNRLRRAAC RLFTSEKMVK AIKKLEIEIE ARRLIVRKDR 800
HLWKDVGERQ KVLNWLLSYN PLWLRIGLET TYGELISLED NSDVTGLAMF 850
ILNRLLWNPD IAAEYRHPTV PHLYRDGHEE ALSKFTLKKL LLLVCFLDYA 900
KISRLIDHDP CLFCKDAEFK ASKEILLAFS RDFLSGEGDL SRHLGLLGLP 950
VNHVQTPFDE FDFAVTNLAV DLQCGVRLVR TMELLTQNWD LSKKLRIPAI 1000
SRLQKMHNVD IVLQVLKSRG IELSDEHGNT ILSKDIVDRH REKTLRLLWK 1050
IAFAFQVDIS LNLDQLKEEI AFLKHTKSIK KTISLLSCHS DDLINKKKGK 1100
RDSGSFEQYS ENIKLLMDWV NAVCAFYNKK VENFTVSFSD GRVLCYLIHH 1150
YHPCYVPFDA ICQRTTQTVE CTQTGSVVLN SSSESDDSSL DMSLKAFDHE 1200
NTSELYKELL ENEKKNFHLV RSAVRDLGGI PAMINHSDMS NTIPDEKVVI 1250
TYLSFLCARL LDLRKEIRAA RLIQTTWRKY KLKTDLKRHQ EREKAARIIQ 1300
LAVINFLAKQ RLRKRVNAAL VIQKYWRRVL AQRKLLMLKK EKLEKVQNKA 1350
ASLIQGYWRR YSTRQRFLKL KYYSIILQSR IRMIIAVTSY KRYLWATVTI 1400
QRHWRAYLRR KQDQQRYEML KSSTLIIQSM FRKWKQRKMQ SQVKATVILQ 1450
RAFREWHLRK QAKEENSAII IQSWYRMHKE LRKYIYIRSC VVIIQKRFRC 1500
FQAQKLYKRR KESILTIQKY YKAYLKGKIE RTNYLQKRAA AIQLQAAFRR 1550
LKAHNLCRQI RAACVIQSYW RMRQDRVRFL NLKKTIIKFQ AHVRKHQQRQ 1600
KYKKMKKAAV IIQTHFRAYI FAMKVLASYQ KTRSAVIVLQ SAYRGMQARK 1650
MYIHILTSVI KIQSYYRAYV SKKEFLSLKN ATIKLQSTVK MKQTRKQYLH 1700
LRAAALFIQQ CYRSKKIAAQ KREEYMQMRE SCIKLQAFVR GYLVRKQMRL 1750
QRKAVISLQS YFRMRKARQY YLKMYKAIIV IQNYYHAYKA QVNQRKNFLQ 1800
VKKAATCLQA AYRGYKVRQL IKQQSIAALK IQSAFRGYNK RVKYQSVLQS 1850
IIKIQRWYRA YKTLHDTRTH FLKTKAAVIS LQSAYRGWKV RKQIRREHQA 1900
ALKIQSAFRM AKAQKQFRLF KTAALVIQQN FRAWTAGRKQ CMEYIELRHA 1950
VLVLQSMWKG KTLRRQLQRQ HKCAIIIQSY YRMHVQQKKW KIMKKAALLI 2000
QKYYRAYSIG REQNHLYLKT KAAVVTLQSA YRGMKVRKRI KDCNKAAVTI 2050
QSKYRAYKTK KKYATYRASA IIIQRWYRGI KITNHQHKEY LNLKKTAIKI 2100
QSVYRGIRVR RHIQHMHRAA TFIKAMFKMH QSRISYHTMR KAAIVIQVRC 2150
RAYYQGKMQR EKYLTILKAV KVLQASFRGV RVRRTLRKMQ TAATLIQSNY 2200
RRYRQQTYFN KLKKITKTVQ QRYWAMKERN IQFQRYNKLR HSVIYIQAIF 2250
RGKKARRHLK MMHIAATLIQ RRFRTLMMRR RFLSLKKTAI LIQRKYRAHL 2300
CTKHHLQFLQ VQNAVIKIQS SYRRWMIRKR MREMHRAATF IQSTFRMHRL 2350
HMRYQALKQA SVVIQQQYQA NRAAKLQRQH YLRQRHSAVI LQAAFRGMKT 2400
RRHLKSMHSS ATLIQSRFRS LLVRRRFISL KKATIFVQRK YRATICAKHK 2450
LYQFLHLRKA AITIQSSYRR LMVKKKLQEM QRAAVLIQAT FRMYRTYITF 2500
QTWKHASILI QQHYRTYRAA KLQRENYIRQ WHSAVVIQAA YKGMKARQLL 2550
REKHKASIVI QSTYRMYRQY CFYQKLQWAT KIIQEKYRAN KKKQKVFQHN 2600
ELKKETCVQA GFQDMNIKKQ IQEQHQAAII IQKHCKAFKI RKHYLHLRAT 2650
VVSIQRRYRK LTAVRTQAVI CIQSYYRGFK VRKDIQNMHR AATLIQSFYR 2700
MHRAKVDYET KKTAIVVIQN YYRLYVRVKT ERKNFLAVQK SVRTIQAAFR 2750
GMKVRQKLKN VSEEKMAAIV NQSALCCYRS KTQYEAVQSE GVMIQEWYKA 2800
SGLACSQEAE YHSQSRAAVT IQKAFCRMVT RKLETQKCAA LRIQFFLQMA 2850
VYRRRFVQQK RAAITLQHYF RTWQTRKQFL LYRKAAVVLQ NHYRAFLSAK 2900
HQRQVYLQIR SSVIIIQARS KGFIQKRKFQ EIKNSTIKIQ AMWRRYRAKK 2950
YLCKVKAACK IQAWYRCWRA HKEYLAILKA VKIIQGCFYT KLERTRFLNV 3000
RASAIIIQRK WRAILPAKIA HEHFLMIKRH RAACLIQAHY RGYKGRQVFL 3050
RQKSAALIIQ KYIRAREAGK HERIKYIEFK KSTVILQALV RGWLVRKRFL 3100
EQRAKIRLLH FTAAAYYHLN AVRIQRAYKL YLAVKNANKQ VNSVICIQRW 3150
FRARLQEKRF IQKYHSIKKI EHEGQECLSQ RNRAASVIQK AVRHFLLRKK 3200
QEKFTSGIIK IQALWRGYSW RKKNDCTKIK AIRLSLQVVN REIREENKLY 3250
KRTALALHYL LTYKHLSAIL EALKHLEVVT RLSPLCCENM AQSGAISKIF 3300
VLIRSCNRSI PCMEVIRYAV QVLLNVSKYE KTTSAVYDVE NCIDILLELL 3350
QIYREKPGNK VADKGGSIFT KTCCLLAILL KTTNRASDVR SRSKVVDRIY 3400
SLYKLTAHKH KMNTERILYK QKKNSSISIP FIPETPVRTR IVSRLKPDWV 3450
LRRDNMEEIT NPLQAIQMVM DTLGIPY 3477
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.

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.
VSP_010680Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2355 – 23551Q → R in AAN40011. 1 Publication
Sequence conflicti2355 – 23551Q → R in AAR12641. 1 Publication
Sequence conflicti2977 – 29771I → V in BAA91676. 1 Publication
Sequence conflicti3049 – 30491F → S in BAA91676. 1 Publication

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.
SMRi Q8IZT6. Positions 1349-1384, 1417-1457, 1468-1500.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129236. 10 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.
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

ArrayExpressi Q8IZT6.
Bgeei Q8IZT6.
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: September 3, 2014
This is version 117 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

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