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Q8IZT6

- ASPM_HUMAN

UniProt

Q8IZT6 - ASPM_HUMAN

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
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    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

    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-SubCell
    2. midbody Source: Ensembl
    3. nucleus Source: UniProtKB-SubCell
    4. spindle pole Source: Ensembl

    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

    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.
    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.
    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.

    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.
    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

    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 1, 2014
    This is version 118 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