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Entry version 167 (16 Oct 2019)
Sequence version 2 (25 Nov 2008)
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Protein

Abnormal spindle-like microcephaly-associated protein

Gene

ASPM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function can be enhanced by the katanin complex (PubMed:28436967). May have a preferential role in regulating neurogenesis.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalmodulin-binding
Biological processCell cycle, Cell division, Mitosis

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8IZT6

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Abnormal spindle-like microcephaly-associated protein
Alternative name(s):
Abnormal spindle protein homolog
Short name:
Asp homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ASPM
Synonyms:MCPH5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:19048 ASPM

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605481 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IZT6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Microcephaly 5, primary, autosomal recessive (MCPH5)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNET

More...
DisGeNETi
259266

MalaCards human disease database

More...
MalaCardsi
ASPM
MIMi608716 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000066279

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2512 Autosomal recessive primary microcephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA38782

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IZT6

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ASPM

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215273935

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001913321 – 3477Abnormal spindle-like microcephaly-associated proteinAdd BLAST3477

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei280PhosphoserineCombined sources1
Modified residuei283PhosphoserineCombined sources1
Modified residuei367PhosphoserineCombined sources1
Modified residuei392PhosphoserineCombined sources1
Modified residuei425PhosphoserineCombined sources1
Modified residuei605PhosphoserineCombined sources1
Modified residuei1103PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8IZT6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8IZT6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8IZT6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8IZT6

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8IZT6

PeptideAtlas

More...
PeptideAtlasi
Q8IZT6

PRoteomics IDEntifications database

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PRIDEi
Q8IZT6

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
71424 [Q8IZT6-1]
71425 [Q8IZT6-2]

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q8IZT6

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8IZT6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8IZT6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000066279 Expressed in 122 organ(s), highest expression level in liver

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8IZT6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IZT6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB017816

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with KATNA1 and KATNB1; katanin complex formation KATNA1:KATNB1 is required for the association.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
129236, 80 interactors

Protein interaction database and analysis system

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IntActi
Q8IZT6, 86 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000356379

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8IZT6

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini920 – 1056Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST137
Domaini1110 – 1261Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST152
Domaini1347 – 1378IQ 1PROSITE-ProRule annotationAdd BLAST32
Domaini1393 – 1422IQ 2PROSITE-ProRule annotationAdd BLAST30
Domaini1582 – 1613IQ 3PROSITE-ProRule annotationAdd BLAST32
Domaini1632 – 1661IQ 4PROSITE-ProRule annotationAdd BLAST30
Domaini1655 – 1684IQ 5PROSITE-ProRule annotationAdd BLAST30
Domaini1728 – 1757IQ 6PROSITE-ProRule annotationAdd BLAST30
Domaini1751 – 1782IQ 7PROSITE-ProRule annotationAdd BLAST32
Domaini1801 – 1830IQ 8PROSITE-ProRule annotationAdd BLAST30
Domaini1824 – 1853IQ 9PROSITE-ProRule annotationAdd BLAST30
Domaini1874 – 1903IQ 10PROSITE-ProRule annotationAdd BLAST30
Domaini1897 – 1928IQ 11PROSITE-ProRule annotationAdd BLAST32
Domaini1947 – 1978IQ 12PROSITE-ProRule annotationAdd BLAST32
Domaini1970 – 2001IQ 13PROSITE-ProRule annotationAdd BLAST32
Domaini2020 – 2049IQ 14PROSITE-ProRule annotationAdd BLAST30
Domaini2043 – 2074IQ 15PROSITE-ProRule annotationAdd BLAST32
Domaini2093 – 2124IQ 16PROSITE-ProRule annotationAdd BLAST32
Domaini2116 – 2147IQ 17PROSITE-ProRule annotationAdd BLAST32
Domaini2166 – 2197IQ 18PROSITE-ProRule annotationAdd BLAST32
Domaini2189 – 2218IQ 19PROSITE-ProRule annotationAdd BLAST30
Domaini2239 – 2270IQ 20PROSITE-ProRule annotationAdd BLAST32
Domaini2262 – 2293IQ 21PROSITE-ProRule annotationAdd BLAST32
Domaini2311 – 2342IQ 22PROSITE-ProRule annotationAdd BLAST32
Domaini2334 – 2365IQ 23PROSITE-ProRule annotationAdd BLAST32
Domaini2384 – 2415IQ 24PROSITE-ProRule annotationAdd BLAST32
Domaini2407 – 2438IQ 25PROSITE-ProRule annotationAdd BLAST32
Domaini2457 – 2488IQ 26PROSITE-ProRule annotationAdd BLAST32
Domaini2530 – 2561IQ 27PROSITE-ProRule annotationAdd BLAST32
Domaini2624 – 2653IQ 28PROSITE-ProRule annotationAdd BLAST30
Domaini2665 – 2696IQ 29PROSITE-ProRule annotationAdd BLAST32
Domaini2688 – 2719IQ 30PROSITE-ProRule annotationAdd BLAST32
Domaini2738 – 2767IQ 31PROSITE-ProRule annotationAdd BLAST30
Domaini2859 – 2890IQ 32PROSITE-ProRule annotationAdd BLAST32
Domaini2909 – 2938IQ 33PROSITE-ProRule annotationAdd BLAST30
Domaini2932 – 2963IQ 34PROSITE-ProRule annotationAdd BLAST32
Domaini2954 – 2985IQ 35PROSITE-ProRule annotationAdd BLAST32
Domaini3029 – 3060IQ 36PROSITE-ProRule annotationAdd BLAST32
Domaini3079 – 3110IQ 37PROSITE-ProRule annotationAdd BLAST32
Domaini3181 – 3210IQ 38PROSITE-ProRule annotationAdd BLAST30
Domaini3204 – 3235IQ 39PROSITE-ProRule annotationAdd BLAST32

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni308 – 409Sufficient for interaction with KATNA1:KATNB1By similarityAdd BLAST102

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1057 – 1078Sequence analysisAdd BLAST22

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0165 Eukaryota
ENOG410XSAR LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00560000077332

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000034105

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IZT6

KEGG Orthology (KO)

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KOi
K16743

Identification of Orthologs from Complete Genome Data

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OMAi
VIQANFR

Database of Orthologous Groups

More...
OrthoDBi
1249457at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IZT6

TreeFam database of animal gene trees

More...
TreeFami
TF351180

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.418.10, 1 hit
2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR031549 ASH
IPR029955 ASPM
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR013783 Ig-like_fold
IPR000048 IQ_motif_EF-hand-BS
IPR027417 P-loop_NTPase

The PANTHER Classification System

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PANTHERi
PTHR22590:SF4 PTHR22590:SF4, 5 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15780 ASH, 1 hit
PF00307 CH, 1 hit
PF00612 IQ, 40 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00033 CH, 2 hits
SM00015 IQ, 63 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47576 SSF47576, 1 hit
SSF48371 SSF48371, 1 hit
SSF52540 SSF52540, 18 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50021 CH, 2 hits
PS50096 IQ, 39 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IZT6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MANRRVGRGC WEVSPTERRP PAGLRGPAAE EEASSPPVLS LSHFCRSPFL
60 70 80 90 100
CFGDVLLGAS RTLSLALDNP NEEVAEVKIS HFPAADLGFS VSQRCFVLQP
110 120 130 140 150
KEKIVISVNW TPLKEGRVRE IMTFLVNDVL KHQAILLGNA EEQKKKKRSL
160 170 180 190 200
WDTIKKKKIS ASTSHNRRVS NIQNVNKTFS VSQKVDRVRS PLQACENLAM
210 220 230 240 250
NEGGPPTENN SLILEENKIP ISPISPAFNE CHGATCLPLS VRRSTTYSSL
260 270 280 290 300
HASENRELLN VHSANVSKVS FNEKAVTETS FNSVNVNGQR GENSKLSLTP
310 320 330 340 350
NCSSTLNITQ SQIHFLSPDS FVNNSHGANN ELELVTCLSS DMFMKDNSQP
360 370 380 390 400
VHLESTIAHE IYQKILSPDS FIKDNYGLNQ DLESESVNPI LSPNQFLKDN
410 420 430 440 450
MAYMCTSQQT CKVPLSNENS QVPQSPEDWR KSEVSPRIPE CQGSKSPKAI
460 470 480 490 500
FEELVEMKSN YYSFIKQNNP KFSAVQDISS HSHNKQPKRR PILSATVTKR
510 520 530 540 550
KATCTRENQT EINKPKAKRC LNSAVGEHEK VINNQKEKED FHSYLPIIDP
560 570 580 590 600
ILSKSKSYKN EVTPSSTTAS VARKRKSDGS MEDANVRVAI TEHTEVREIK
610 620 630 640 650
RIHFSPSEPK TSAVKKTKNV TTPISKRISN REKLNLKKKT DLSIFRTPIS
660 670 680 690 700
KTNKRTKPII AVAQSSLTFI KPLKTDIPRH PMPFAAKNMF YDERWKEKQE
710 720 730 740 750
QGFTWWLNFI LTPDDFTVKT NISEVNAATL LLGIENQHKI SVPRAPTKEE
760 770 780 790 800
MSLRAYTARC RLNRLRRAAC RLFTSEKMVK AIKKLEIEIE ARRLIVRKDR
810 820 830 840 850
HLWKDVGERQ KVLNWLLSYN PLWLRIGLET TYGELISLED NSDVTGLAMF
860 870 880 890 900
ILNRLLWNPD IAAEYRHPTV PHLYRDGHEE ALSKFTLKKL LLLVCFLDYA
910 920 930 940 950
KISRLIDHDP CLFCKDAEFK ASKEILLAFS RDFLSGEGDL SRHLGLLGLP
960 970 980 990 1000
VNHVQTPFDE FDFAVTNLAV DLQCGVRLVR TMELLTQNWD LSKKLRIPAI
1010 1020 1030 1040 1050
SRLQKMHNVD IVLQVLKSRG IELSDEHGNT ILSKDIVDRH REKTLRLLWK
1060 1070 1080 1090 1100
IAFAFQVDIS LNLDQLKEEI AFLKHTKSIK KTISLLSCHS DDLINKKKGK
1110 1120 1130 1140 1150
RDSGSFEQYS ENIKLLMDWV NAVCAFYNKK VENFTVSFSD GRVLCYLIHH
1160 1170 1180 1190 1200
YHPCYVPFDA ICQRTTQTVE CTQTGSVVLN SSSESDDSSL DMSLKAFDHE
1210 1220 1230 1240 1250
NTSELYKELL ENEKKNFHLV RSAVRDLGGI PAMINHSDMS NTIPDEKVVI
1260 1270 1280 1290 1300
TYLSFLCARL LDLRKEIRAA RLIQTTWRKY KLKTDLKRHQ EREKAARIIQ
1310 1320 1330 1340 1350
LAVINFLAKQ RLRKRVNAAL VIQKYWRRVL AQRKLLMLKK EKLEKVQNKA
1360 1370 1380 1390 1400
ASLIQGYWRR YSTRQRFLKL KYYSIILQSR IRMIIAVTSY KRYLWATVTI
1410 1420 1430 1440 1450
QRHWRAYLRR KQDQQRYEML KSSTLIIQSM FRKWKQRKMQ SQVKATVILQ
1460 1470 1480 1490 1500
RAFREWHLRK QAKEENSAII IQSWYRMHKE LRKYIYIRSC VVIIQKRFRC
1510 1520 1530 1540 1550
FQAQKLYKRR KESILTIQKY YKAYLKGKIE RTNYLQKRAA AIQLQAAFRR
1560 1570 1580 1590 1600
LKAHNLCRQI RAACVIQSYW RMRQDRVRFL NLKKTIIKFQ AHVRKHQQRQ
1610 1620 1630 1640 1650
KYKKMKKAAV IIQTHFRAYI FAMKVLASYQ KTRSAVIVLQ SAYRGMQARK
1660 1670 1680 1690 1700
MYIHILTSVI KIQSYYRAYV SKKEFLSLKN ATIKLQSTVK MKQTRKQYLH
1710 1720 1730 1740 1750
LRAAALFIQQ CYRSKKIAAQ KREEYMQMRE SCIKLQAFVR GYLVRKQMRL
1760 1770 1780 1790 1800
QRKAVISLQS YFRMRKARQY YLKMYKAIIV IQNYYHAYKA QVNQRKNFLQ
1810 1820 1830 1840 1850
VKKAATCLQA AYRGYKVRQL IKQQSIAALK IQSAFRGYNK RVKYQSVLQS
1860 1870 1880 1890 1900
IIKIQRWYRA YKTLHDTRTH FLKTKAAVIS LQSAYRGWKV RKQIRREHQA
1910 1920 1930 1940 1950
ALKIQSAFRM AKAQKQFRLF KTAALVIQQN FRAWTAGRKQ CMEYIELRHA
1960 1970 1980 1990 2000
VLVLQSMWKG KTLRRQLQRQ HKCAIIIQSY YRMHVQQKKW KIMKKAALLI
2010 2020 2030 2040 2050
QKYYRAYSIG REQNHLYLKT KAAVVTLQSA YRGMKVRKRI KDCNKAAVTI
2060 2070 2080 2090 2100
QSKYRAYKTK KKYATYRASA IIIQRWYRGI KITNHQHKEY LNLKKTAIKI
2110 2120 2130 2140 2150
QSVYRGIRVR RHIQHMHRAA TFIKAMFKMH QSRISYHTMR KAAIVIQVRC
2160 2170 2180 2190 2200
RAYYQGKMQR EKYLTILKAV KVLQASFRGV RVRRTLRKMQ TAATLIQSNY
2210 2220 2230 2240 2250
RRYRQQTYFN KLKKITKTVQ QRYWAMKERN IQFQRYNKLR HSVIYIQAIF
2260 2270 2280 2290 2300
RGKKARRHLK MMHIAATLIQ RRFRTLMMRR RFLSLKKTAI LIQRKYRAHL
2310 2320 2330 2340 2350
CTKHHLQFLQ VQNAVIKIQS SYRRWMIRKR MREMHRAATF IQSTFRMHRL
2360 2370 2380 2390 2400
HMRYQALKQA SVVIQQQYQA NRAAKLQRQH YLRQRHSAVI LQAAFRGMKT
2410 2420 2430 2440 2450
RRHLKSMHSS ATLIQSRFRS LLVRRRFISL KKATIFVQRK YRATICAKHK
2460 2470 2480 2490 2500
LYQFLHLRKA AITIQSSYRR LMVKKKLQEM QRAAVLIQAT FRMYRTYITF
2510 2520 2530 2540 2550
QTWKHASILI QQHYRTYRAA KLQRENYIRQ WHSAVVIQAA YKGMKARQLL
2560 2570 2580 2590 2600
REKHKASIVI QSTYRMYRQY CFYQKLQWAT KIIQEKYRAN KKKQKVFQHN
2610 2620 2630 2640 2650
ELKKETCVQA GFQDMNIKKQ IQEQHQAAII IQKHCKAFKI RKHYLHLRAT
2660 2670 2680 2690 2700
VVSIQRRYRK LTAVRTQAVI CIQSYYRGFK VRKDIQNMHR AATLIQSFYR
2710 2720 2730 2740 2750
MHRAKVDYET KKTAIVVIQN YYRLYVRVKT ERKNFLAVQK SVRTIQAAFR
2760 2770 2780 2790 2800
GMKVRQKLKN VSEEKMAAIV NQSALCCYRS KTQYEAVQSE GVMIQEWYKA
2810 2820 2830 2840 2850
SGLACSQEAE YHSQSRAAVT IQKAFCRMVT RKLETQKCAA LRIQFFLQMA
2860 2870 2880 2890 2900
VYRRRFVQQK RAAITLQHYF RTWQTRKQFL LYRKAAVVLQ NHYRAFLSAK
2910 2920 2930 2940 2950
HQRQVYLQIR SSVIIIQARS KGFIQKRKFQ EIKNSTIKIQ AMWRRYRAKK
2960 2970 2980 2990 3000
YLCKVKAACK IQAWYRCWRA HKEYLAILKA VKIIQGCFYT KLERTRFLNV
3010 3020 3030 3040 3050
RASAIIIQRK WRAILPAKIA HEHFLMIKRH RAACLIQAHY RGYKGRQVFL
3060 3070 3080 3090 3100
RQKSAALIIQ KYIRAREAGK HERIKYIEFK KSTVILQALV RGWLVRKRFL
3110 3120 3130 3140 3150
EQRAKIRLLH FTAAAYYHLN AVRIQRAYKL YLAVKNANKQ VNSVICIQRW
3160 3170 3180 3190 3200
FRARLQEKRF IQKYHSIKKI EHEGQECLSQ RNRAASVIQK AVRHFLLRKK
3210 3220 3230 3240 3250
QEKFTSGIIK IQALWRGYSW RKKNDCTKIK AIRLSLQVVN REIREENKLY
3260 3270 3280 3290 3300
KRTALALHYL LTYKHLSAIL EALKHLEVVT RLSPLCCENM AQSGAISKIF
3310 3320 3330 3340 3350
VLIRSCNRSI PCMEVIRYAV QVLLNVSKYE KTTSAVYDVE NCIDILLELL
3360 3370 3380 3390 3400
QIYREKPGNK VADKGGSIFT KTCCLLAILL KTTNRASDVR SRSKVVDRIY
3410 3420 3430 3440 3450
SLYKLTAHKH KMNTERILYK QKKNSSISIP FIPETPVRTR IVSRLKPDWV
3460 3470
LRRDNMEEIT NPLQAIQMVM DTLGIPY
Length:3,477
Mass (Da):409,800
Last modified:November 25, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5VYL4Q5VYL4_HUMAN
Abnormal spindle-like microcephaly-...
ASPM hCG_2039667
1,142Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti2355Q → R in AAN40011 (PubMed:12355089).Curated1
Sequence conflicti2355Q → R in AAR12641 (PubMed:14704186).Curated1
Sequence conflicti2977I → V in BAA91676 (PubMed:14702039).Curated1
Sequence conflicti3049F → S in BAA91676 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_047263313I → V. Corresponds to variant dbSNP:rs12025066EnsemblClinVar.1
Natural variantiVAR_024369430R → G. Corresponds to variant dbSNP:rs6428388EnsemblClinVar.1
Natural variantiVAR_046758869T → S. Corresponds to variant dbSNP:rs7551108Ensembl.1
Natural variantiVAR_0467591090S → F1 PublicationCorresponds to variant dbSNP:rs16841081EnsemblClinVar.1
Natural variantiVAR_0467602494Y → H3 PublicationsCorresponds to variant dbSNP:rs964201EnsemblClinVar.1
Natural variantiVAR_0719302526N → D1 PublicationCorresponds to variant dbSNP:rs587783267EnsemblClinVar.1
Natural variantiVAR_0190842562S → G1 PublicationCorresponds to variant dbSNP:rs41310927EnsemblClinVar.1
Natural variantiVAR_0467612620Q → H. Corresponds to variant dbSNP:rs12138336EnsemblClinVar.1
Natural variantiVAR_0190852647L → I3 PublicationsCorresponds to variant dbSNP:rs3762271EnsemblClinVar.1
Natural variantiVAR_0190863132L → R1 PublicationCorresponds to variant dbSNP:rs36004306EnsemblClinVar.1
Natural variantiVAR_0719313180Q → P2 PublicationsCorresponds to variant dbSNP:rs193251130EnsemblClinVar.1
Natural variantiVAR_0467623258H → R. Corresponds to variant dbSNP:rs7528827EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0106801356 – 2940Missing in isoform 2. 2 PublicationsAdd BLAST1585

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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 No translation available.
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1389.1 [Q8IZT6-1]
CCDS55672.1 [Q8IZT6-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001193775.1, NM_001206846.1 [Q8IZT6-2]
NP_060606.3, NM_018136.4 [Q8IZT6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000294732; ENSP00000294732; ENSG00000066279 [Q8IZT6-2]
ENST00000367409; ENSP00000356379; ENSG00000066279 [Q8IZT6-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
259266

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:259266

UCSC genome browser

More...
UCSCi
uc001gtu.4 human [Q8IZT6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 No translation available.
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]

3D structure databases

SMRiQ8IZT6
ModBaseiSearch...

Protein-protein interaction databases

BioGridi129236, 80 interactors
IntActiQ8IZT6, 86 interactors
STRINGi9606.ENSP00000356379

PTM databases

CarbonylDBiQ8IZT6
iPTMnetiQ8IZT6
PhosphoSitePlusiQ8IZT6

Polymorphism and mutation databases

BioMutaiASPM
DMDMi215273935

Proteomic databases

EPDiQ8IZT6
jPOSTiQ8IZT6
MassIVEiQ8IZT6
MaxQBiQ8IZT6
PaxDbiQ8IZT6
PeptideAtlasiQ8IZT6
PRIDEiQ8IZT6
ProteomicsDBi71424 [Q8IZT6-1]
71425 [Q8IZT6-2]

Genome annotation databases

EnsembliENST00000294732; ENSP00000294732; ENSG00000066279 [Q8IZT6-2]
ENST00000367409; ENSP00000356379; ENSG00000066279 [Q8IZT6-1]
GeneIDi259266
KEGGihsa:259266
UCSCiuc001gtu.4 human [Q8IZT6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
259266
DisGeNETi259266

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ASPM
HGNCiHGNC:19048 ASPM
HPAiCAB017816
MalaCardsiASPM
MIMi605481 gene
608716 phenotype
neXtProtiNX_Q8IZT6
OpenTargetsiENSG00000066279
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA38782

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0165 Eukaryota
ENOG410XSAR LUCA
GeneTreeiENSGT00560000077332
HOGENOMiHOG000034105
InParanoidiQ8IZT6
KOiK16743
OMAiVIQANFR
OrthoDBi1249457at2759
PhylomeDBiQ8IZT6
TreeFamiTF351180

Enzyme and pathway databases

SIGNORiQ8IZT6

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ASPM human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ASPM_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
259266
PharosiQ8IZT6

Protein Ontology

More...
PROi
PR:Q8IZT6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000066279 Expressed in 122 organ(s), highest expression level in liver
ExpressionAtlasiQ8IZT6 baseline and differential
GenevisibleiQ8IZT6 HS

Family and domain databases

Gene3Di1.10.418.10, 1 hit
2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR031549 ASH
IPR029955 ASPM
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR013783 Ig-like_fold
IPR000048 IQ_motif_EF-hand-BS
IPR027417 P-loop_NTPase
PANTHERiPTHR22590:SF4 PTHR22590:SF4, 5 hits
PfamiView protein in Pfam
PF15780 ASH, 1 hit
PF00307 CH, 1 hit
PF00612 IQ, 40 hits
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM00015 IQ, 63 hits
SUPFAMiSSF47576 SSF47576, 1 hit
SSF48371 SSF48371, 1 hit
SSF52540 SSF52540, 18 hits
PROSITEiView protein in PROSITE
PS50021 CH, 2 hits
PS50096 IQ, 39 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiASPM_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IZT6
Secondary accession number(s): Q4G1H1
, Q5VYL3, Q86UX4, Q8IUL2, Q8IZJ7, Q8IZJ8, Q8IZJ9, Q8N4D1, Q9NVS1, Q9NVT6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: November 25, 2008
Last modified: October 16, 2019
This is version 167 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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
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