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UniProtKB - O95613 (PCNT_HUMAN)

Protein

Pericentrin

Gene

PCNT

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

Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome.4 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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2

SIGNOR Signaling Network Open Resource

More...SIGNORi		O95613

<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:
Pericentrin
Alternative name(s):
Kendrin
Pericentrin-B
<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:PCNT
Synonyms:KIAA0402, PCNT2
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 21

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000160299.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:16068 PCNT

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605925 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O95613

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

<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

Microcephalic osteodysplastic primordial dwarfism 2 (MOPD2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAdults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence.
See also OMIM:210720

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi2231R → A: Produces non-cleavable protein which remains on centrosomes in late mitosis until its levels eventually drop in cells undergoing cytokinesis. 2 Publications1
Mutagenesisi2232K → M: Stabilizes the C-terminal fragment produced by cleavage. 1 Publication1
Mutagenesisi3196 – 3197FR → AA: Decrease in calmodulin binding. 1 Publication2
Mutagenesisi3203V → A: Decrease in calmodulin binding. 1 Publication1
Mutagenesisi3208 – 3209RL → AA: Decrease in calmodulin binding. 1 Publication2

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNET

More...DisGeNETi		5116

MalaCards human disease database

More...MalaCardsi		PCNT
MIMi210720 phenotype

Open Targets

More...OpenTargetsi		ENSG00000160299

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

More...Orphaneti		2637 Microcephalic osteodysplastic primordial dwarfism type II
808 Seckel syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33079

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PCNT

<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_00000582571 – 3336PericentrinAdd BLAST3336

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 residuei44PhosphoserineCombined sources1
Modified residuei188PhosphoserineCombined sources1
Modified residuei191PhosphothreonineCombined sources1
Modified residuei610PhosphoserineCombined sources1
Modified residuei682PhosphoserineCombined sources1
Modified residuei1245PhosphoserineCombined sources1
Modified residuei1653PhosphoserineCombined sources1
Modified residuei1712PhosphoserineBy similarity1
Modified residuei2044PhosphoserineCombined sources1
Modified residuei2177PhosphoserineCombined sources1
Modified residuei2192PhosphoserineCombined sources1
Modified residuei2225PhosphoserineBy similarity1
Modified residuei2226PhosphoserineBy similarity1
Modified residuei2327PhosphoserineCombined sources1
Modified residuei2352PhosphoserineCombined sources1
Modified residuei2355PhosphoserineCombined sources1
Modified residuei2477PhosphoserineCombined sources1
Modified residuei2486PhosphoserineCombined sources1
Modified residuei3302PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Cleaved during mitotis which leads to removal of CDK5RAP2 from the centrosome and promotes centriole disengagement and subsequent centriole separation (PubMed:22722493, PubMed:25503564). The C-terminal fragment is rapidly degraded following cleavage (PubMed:22722493).2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O95613

MaxQB - The MaxQuant DataBase

More...MaxQBi		O95613

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

More...PaxDbi		O95613

PeptideAtlas

More...PeptideAtlasi		O95613

PRoteomics IDEntifications database

More...PRIDEi		O95613

ProteomicsDB human proteome resource

More...ProteomicsDBi		50949
50950 [O95613-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O95613

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

More...PhosphoSitePlusi		O95613

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in all tissues tested, including placenta, liver, kidney and thymus.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000160299 Expressed in 224 organ(s), highest expression level in gastrocnemius

CleanEx database of gene expression profiles

More...CleanExi		HS_PCNT

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O95613 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O95613 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA016820
HPA019887
HPA032101

<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 CHD3. Interacts with CHD4; the interaction regulates centrosome integrity (By similarity). Interacts with DISC1 and PCM1. Binds calmodulin. Interacts with CDK5RAP2; the interaction is leading to centrosomal localization of PCNT and CDK5RAP2. Interacts with isoform 1 of NEK2. Interacts with CEP131. Interacts with CCDC13 (PubMed:24816561). Interacts with CEP68 (PubMed:25503564). Interacts with ATF5; the ATF5:PCNT:polyglutamylated tubulin (PGT) tripartite unites the mother centriole and the pericentriolar material (PCM) in the centrosome (PubMed:26213385).By similarity8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111146, 75 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O95613

Database of interacting proteins

More...DIPi		DIP-33829N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		O95613

Protein interaction database and analysis system

More...IntActi		O95613, 42 interactors

Molecular INTeraction database

More...MINTi		O95613

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000352572

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O95613

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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

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>Regioni2983 – 3246Interaction with NEK21 PublicationAdd BLAST264
Regioni3195 – 3208Calmodulin-bindingAdd BLAST14

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 coili258 – 553Sequence analysisAdd BLAST296
Coiled coili675 – 835Sequence analysisAdd BLAST161
Coiled coili1010 – 1146Sequence analysisAdd BLAST137
Coiled coili1299 – 1949Sequence analysisAdd BLAST651
Coiled coili2064 – 2082Sequence analysisAdd BLAST19
Coiled coili2536 – 3086Sequence analysisAdd BLAST551

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi214 – 795Glu-richAdd BLAST582

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Composed of a coiled-coil central region flanked by non-helical N- and C-terminals.

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IJHT Eukaryota
ENOG4110FJZ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00730000110871

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000168229

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG079443

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O95613

KEGG Orthology (KO)

More...KOi		K16481

Identification of Orthologs from Complete Genome Data

More...OMAi		ALKHEQT

Database of Orthologous Groups

More...OrthoDBi		EOG091G001R

Database for complete collections of gene phylogenies

More...PhylomeDBi		O95613

TreeFam database of animal gene trees

More...TreeFami		TF336114

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR028745 AKAP9/Pericentrin
IPR019528 PACT_domain

The PANTHER Classification System

More...PANTHERi		PTHR44981 PTHR44981, 7 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF10495 PACT_coil_coil, 1 hit

<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>.<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: O95613-1) [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
        10         20         30         40         50
MEVEQEQRRR KVEAGRTKLA HFRQRKTKGD SSHSEKKTAK RKGSAVDASV 
        60         70         80         90        100
QEESPVTKED SALCGGGDIC KSTSCDDTPD GAGGAFAAQP EDCDGEKRED 
       110        120        130        140        150
LEQLQQKQVN DHPPEQCGMF TVSDHPPEQH GMFTVGDHPP EQRGMFTVSD 
       160        170        180        190        200
HPPEQHGMFT VSDHPPEQRG MFTISDHQPE QRGMFTVSDH TPEQRGIFTI 
       210        220        230        240        250
SDHPAEQRGM FTKECEQECE LAITDLESGR EDEAGLHQSQ AVHGLELEAL 
       260        270        280        290        300
RLSLSNMHTA QLELTQANLQ KEKETALTEL REMLNSRRAQ ELALLQSRQQ 
       310        320        330        340        350
HELELLREQH AREKEEVVLR CGQEAAELKE KLQSEMEKNA QIVKTLKEDW 
       360        370        380        390        400
ESEKDLCLEN LRKELSAKHQ SEMEDLQNQF QKELAEQRAE LEKIFQDKNQ 
       410        420        430        440        450
AERALRNLES HHQAAIEKLR EDLQSEHGRC LEDLEFKFKE SEKEKQLELE 
       460        470        480        490        500
NLQASYEDLK AQSQEEIRRL WSQLDSARTS RQELSELHEQ LLARTSRVED 
       510        520        530        540        550
LEQLKQREKT QHESELEQLR IYFEKKLRDA EKTYQEDLTL LQQRLQGARE 
       560        570        580        590        600
DALLDSVEVG LSCVGLEEKP EKGRKDHVDE LEPERHKESL PRFQAELEES 
       610        620        630        640        650
HRHQLEALES PLCIQHEGHV SDRCCVETSA LGHEWRLEPS EGHSQELPWV 
       660        670        680        690        700
HLQGVQDGDL EADTERAARV LGLETEHKVQ LSLLQTELKE EIELLKIENR 
       710        720        730        740        750
NLYGKLQHET RLKDDLEKVK HNLIEDHQKE LNNAKQKTEL MKQEFQRKET 
       760        770        780        790        800
DWKVMKEELQ REAEEKLTLM LLELREKAES EKQTIINKFE LREAEMRQLQ 
       810        820        830        840        850
DQQAAQILDL ERSLTEQQGR LQQLEQDLTS DDALHCSQCG REPPTAQDGE 
       860        870        880        890        900
LAALHVKEDC ALQLMLARSR FLEERKEITE KFSAEQDAFL QEAQEQHARE 
       910        920        930        940        950
LQLLQERHQQ QLLSVTAELE ARHQAALGEL TASLESKQGA LLAARVAELQ 
       960        970        980        990       1000
TKHAADLGAL ETRHLSSLDS LESCYLSEFQ TIREEHRQAL ELLRADFEEQ 
      1010       1020       1030       1040       1050
LWKKDSLHQT ILTQELEKLK RKHEGELQSV RDHLRTEVST ELAGTVAHEL 
      1060       1070       1080       1090       1100
QGVHQGEFGS EKKTALHEKE ETLRLQSAQA QPFHQEEKES LSLQLQKKNH 
      1110       1120       1130       1140       1150
QVQQLKDQVL SLSHEIEECR SELEVLQQRR ERENREGANL LSMLKADVNL 
      1160       1170       1180       1190       1200
SHSERGALQD ALRRLLGLFG ETLRAAVTLR SRIGERVGLC LDDAGAGLAL 
      1210       1220       1230       1240       1250
STAPALEETW SDVALPELDR TLSECAEMSS VAEISSHMRE SFLMSPESVR 
      1260       1270       1280       1290       1300
ECEQPIRRVF QSLSLAVDGL MEMALDSSRQ LEEARQIHSR FEKEFSFKNE 
      1310       1320       1330       1340       1350
ETAQVVRKHQ ELLECLKEES AAKAELALEL HKTQGTLEGF KVETADLKEV 
      1360       1370       1380       1390       1400
LAGKEDSEHR LVLELESLRR QLQQAAQEQA ALREECTRLW SRGEATATDA 
      1410       1420       1430       1440       1450
EAREAALRKE VEDLTKEQSE TRKQAEKDRS ALLSQMKILE SELEEQLSQH 
      1460       1470       1480       1490       1500
RGCAKQAEAV TALEQQVASL DKHLRNQRQF MDEQAAEREH EREEFQQEIQ 
      1510       1520       1530       1540       1550
RLEGQLRQAA KPQPWGPRDS QQAPLDGEVE LLQQKLREKL DEFNELAIQK 
      1560       1570       1580       1590       1600
ESADRQVLMQ EEEIKRLEEM NINIRKKVAQ LQEEVEKQKN IVKGLEQDKE 
      1610       1620       1630       1640       1650
VLKKQQMSSL LLASTLQSTL DAGRCPEPPS GSPPEGPEIQ LEVTQRALLR 
      1660       1670       1680       1690       1700
RESEVLDLKE QLEKMKGDLE SKNEEILHLN LKLDMQNSQT AVSLRELEEE 
      1710       1720       1730       1740       1750
NTSLKVIYTR SSEIEELKAT IENLQENQKR LQKEKAEEIE QLHEVIEKLQ 
      1760       1770       1780       1790       1800
HELSLMGPVV HEVSDSQAGS LQSELLCSQA GGPRGQALQG ELEAALEAKE 
      1810       1820       1830       1840       1850
ALSRLLADQE RRHSQALEAL QQRLQGAEEA AELQLAELER NVALREAEVE 
      1860       1870       1880       1890       1900
DMASRIQEFE AALKAKEATI AERNLEIDAL NQRKAAHSAE LEAVLLALAR 
      1910       1920       1930       1940       1950
IRRALEQQPL AAGAAPPELQ WLRAQCARLS RQLQVLHQRF LRCQVELDRR 
      1960       1970       1980       1990       2000
QARRATAHTR VPGAHPQPRM DGGAKAQVTG DVEASHDAAL EPVVPDPQGD 
      2010       2020       2030       2040       2050
LQPVLVTLKD APLCKQEGVM SVLTVCQRQL QSELLLVKNE MRLSLEDGGK 
      2060       2070       2080       2090       2100
GKEKVLEDCQ LPKVDLVAQV KQLQEKLNRL LYSMTFQNVD AADTKSLWPM 
      2110       2120       2130       2140       2150
ASAHLLESSW SDDSCDGEEP DISPHIDTCD ANTATGGVTD VIKNQAIDAC 
      2160       2170       2180       2190       2200
DANTTPGGVT DVIKNWDSLI PDEMPDSPIQ EKSECQDMSL SSPTSVLGGS 
      2210       2220       2230       2240       2250
RHQSHTAEAG PRKSPVGMLD LSSWSSPEVL RKDWTLEPWP SLPVTPHSGA 
      2260       2270       2280       2290       2300
LSLCSADTSL GDRADTSLPQ TQGPGLLCSP GVSAAALALQ WAESPPADDH 
      2310       2320       2330       2340       2350
HVQRTAVEKD VEDFITTSFD SQETLSSPPP GLEGKADRSE KSDGSGFGAR 
      2360       2370       2380       2390       2400
LSPGSGGPEA QTAGPVTPAS ISGRFQPLPE AMKEKEVRPK HVKALLQMVR 
      2410       2420       2430       2440       2450
DESHQILALS EGLAPPSGEP HPPRKEDEIQ DISLHGGKTQ EVPTACPDWR 
      2460       2470       2480       2490       2500
GDLLQVVQEA FEKEQEMQGV ELQPRLSGSD LGGHSSLLER LEKIIREQGD 
      2510       2520       2530       2540       2550
LQEKSLEHLR LPDRSSLLSE IQALRAQLRM THLQNQEKLQ HLRTALTSAE 
      2560       2570       2580       2590       2600
ARGSQQEHQL RRQVELLAYK VEQEKCIAGD LQKTLSEEQE KANSVQKLLA 
      2610       2620       2630       2640       2650
AEQTVVRDLK SDLCESRQKS EQLSRSLCEV QQEVLQLRSM LSSKENELKA 
      2660       2670       2680       2690       2700
ALQELESEQG KGRALQSQLE EEQLRHLQRE SQSAKALEEL RASLETQRAQ 
      2710       2720       2730       2740       2750
SSRLCVALKH EQTAKDNLQK ELRIEHSRCE ALLAQERSQL SELQKDLAAE 
      2760       2770       2780       2790       2800
KSRTLELSEA LRHERLLTEQ LSQRTQEACV HQDTQAHHAL LQKLKEEKSR 
      2810       2820       2830       2840       2850
VVDLQAMLEK VQQQALHSQQ QLEAEAQKHC EALRREKEVS ATLKSTVEAL 
      2860       2870       2880       2890       2900
HTQKRELRCS LEREREKPAW LQAELEQSHP RLKEQEGRKA ARRSAEARQS 
      2910       2920       2930       2940       2950
PAAAEQWRKW QRDKEKLREL ELQRQRDLHK IKQLQQTVRD LESKDEVPGS 
      2960       2970       2980       2990       3000
RLHLGSARRA AGSDADHLRE QQRELEAMRQ RLLSAARLLT SFTSQAVDRT 
      3010       3020       3030       3040       3050
VNDWTSSNEK AVMSLLHTLE ELKSDLSRPT SSQKKMAAEL QFQFVDVLLK 
      3060       3070       3080       3090       3100
DNVSLTKALS TVTQEKLELS RAVSKLEKLL KHHLQKGCSP SRSERSAWKP 
      3110       3120       3130       3140       3150
DETAPQSSLR RPDPGRLPPA ASEEAHTSNV KMEKLYLHYL RAESFRKALI 
      3160       3170       3180       3190       3200
YQKKYLLLLI GGFQDSEQET LSMIAHLGVF PSKAERKITS RPFTRFRTAV 
      3210       3220       3230       3240       3250
RVVIAILRLR FLVKKWQEVD RKGALAQGKA PRPGPRARQP QSPPRTRESP 
      3260       3270       3280       3290       3300
PTRDVPSGHT RDPARGRRLA AAASPHSGGR ATPSPNSRLE RSLTASQDPE 
      3310       3320       3330 
HSLTEYIHHL EVIQQRLGGV LPDSTSKKSC HPMIKQ
Length:3,336
Mass (Da):378,037
Last modified:November 30, 2010 - v4
<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:i4F182D2C201662A8
GO
Isoform 2 (identifier: O95613-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: Missing.
     2839-2917: Missing.

Note: No experimental confirmation available.
Show »
Length:3,139
Mass (Da):355,882
Checksum:iA0FD227ABCF410FD
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
H7C2A3H7C2A3_HUMAN
Pericentrin
PCNT
228Annotation 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 AAD10838 differs from that shown. Reason: Frameshift at position 3320.Curated
The sequence BAA23698 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC04252 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti703Y → F in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti789F → L in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti819G → A in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti890 – 900Missing in AAD10838 (PubMed:11171385).CuratedAdd BLAST11
Sequence conflicti967S → T in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti1024E → K in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti1036T → A in BAC04252 (PubMed:14702039).Curated1
Sequence conflicti1287I → L in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti1317K → T in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti1534Q → H in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti3136Y → S in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti3300E → G in AAD10838 (PubMed:11171385).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_043878539T → I. Corresponds to variant dbSNP:rs2249060EnsemblClinVar.1
Natural variantiVAR_043879704G → E3 PublicationsCorresponds to variant dbSNP:rs2839223EnsemblClinVar.1
Natural variantiVAR_043880879T → A1 PublicationCorresponds to variant dbSNP:rs2839227EnsemblClinVar.1
Natural variantiVAR_0438811038V → A3 PublicationsCorresponds to variant dbSNP:rs6518289EnsemblClinVar.1
Natural variantiVAR_0438821163R → C. Corresponds to variant dbSNP:rs7279204EnsemblClinVar.1
Natural variantiVAR_0438831194A → T. Corresponds to variant dbSNP:rs35044802EnsemblClinVar.1
Natural variantiVAR_0694201452G → R Found in a patient with mental retardation, no speech, facial and limbs dysmorphisms. 1 PublicationCorresponds to variant dbSNP:rs143796569EnsemblClinVar.1
Natural variantiVAR_0438841639I → V. Corresponds to variant dbSNP:rs6518291EnsemblClinVar.1
Natural variantiVAR_0438851841N → S. Corresponds to variant dbSNP:rs35940413EnsemblClinVar.1
Natural variantiVAR_0438861953R → H. Corresponds to variant dbSNP:rs34268261EnsemblClinVar.1
Natural variantiVAR_0438871960R → Q. Corresponds to variant dbSNP:rs34813667EnsemblClinVar.1
Natural variantiVAR_0438882097L → P. Corresponds to variant dbSNP:rs2839245EnsemblClinVar.1
Natural variantiVAR_0438892125H → P. Corresponds to variant dbSNP:rs35978208EnsemblClinVar.1
Natural variantiVAR_0438902188M → R1 PublicationCorresponds to variant dbSNP:rs1044998EnsemblClinVar.1
Natural variantiVAR_0438912191S → P. Corresponds to variant dbSNP:rs34151633EnsemblClinVar.1
Natural variantiVAR_0569612239W → R. Corresponds to variant dbSNP:rs35346764EnsemblClinVar.1
Natural variantiVAR_0569622274P → L. Corresponds to variant dbSNP:rs2070425EnsemblClinVar.1
Natural variantiVAR_0569632329P → R. Corresponds to variant dbSNP:rs35848602EnsemblClinVar.1
Natural variantiVAR_0569642361Q → R. Corresponds to variant dbSNP:rs7277175EnsemblClinVar.1
Natural variantiVAR_0694212424R → Q Found in a patient with mental retardation, no speech, facial and limbs dysmorphisms. 1 PublicationCorresponds to variant dbSNP:rs371893416Ensembl.1
Natural variantiVAR_0569652549A → T1 PublicationCorresponds to variant dbSNP:rs2839256EnsemblClinVar.1
Natural variantiVAR_0569662625R → Q. Corresponds to variant dbSNP:rs8131693EnsemblClinVar.1
Natural variantiVAR_0569672659Q → H. Corresponds to variant dbSNP:rs2070426EnsemblClinVar.1
Natural variantiVAR_0569682753R → H. Corresponds to variant dbSNP:rs743346EnsemblClinVar.1
Natural variantiVAR_0569692792Q → R. Corresponds to variant dbSNP:rs2073376EnsemblClinVar.1
Natural variantiVAR_0569702903A → T. Corresponds to variant dbSNP:rs35147998EnsemblClinVar.1
Natural variantiVAR_0569712975L → P. Corresponds to variant dbSNP:rs35881595EnsemblClinVar.1
Natural variantiVAR_0569723091S → G. Corresponds to variant dbSNP:rs4818842EnsemblClinVar.1
Natural variantiVAR_0569733245R → S. Corresponds to variant dbSNP:rs2073380EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0401041 – 118Missing in isoform 2. 1 PublicationAdd BLAST118
Alternative sequenceiVSP_0401052839 – 2917Missing in isoform 2. 1 PublicationAdd BLAST79

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
U52962 mRNA Translation: AAD10838.1 Frameshift.
AF515282 mRNA Translation: AAP46636.1
AB007862 mRNA Translation: BAA23698.3 Different initiation.
AP000471 Genomic DNA No translation available.
AP001477 Genomic DNA No translation available.
AP000335 Genomic DNA No translation available.
AP000336 Genomic DNA No translation available.
AP000337 Genomic DNA No translation available.
AK093923 mRNA Translation: BAC04252.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33592.1 [O95613-1]

NCBI Reference Sequences

More...RefSeqi		NP_001302458.1, NM_001315529.1 [O95613-2]
NP_006022.3, NM_006031.5 [O95613-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.474069

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000359568; ENSP00000352572; ENSG00000160299 [O95613-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5116

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5116

UCSC genome browser

More...UCSCi		uc002zji.4 human [O95613-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U52962 mRNA Translation: AAD10838.1 Frameshift.
AF515282 mRNA Translation: AAP46636.1
AB007862 mRNA Translation: BAA23698.3 Different initiation.
AP000471 Genomic DNA No translation available.
AP001477 Genomic DNA No translation available.
AP000335 Genomic DNA No translation available.
AP000336 Genomic DNA No translation available.
AP000337 Genomic DNA No translation available.
AK093923 mRNA Translation: BAC04252.1 Different initiation.
CCDSiCCDS33592.1 [O95613-1]
RefSeqiNP_001302458.1, NM_001315529.1 [O95613-2]
NP_006022.3, NM_006031.5 [O95613-1]
UniGeneiHs.474069

3D structure databases

ProteinModelPortaliO95613
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111146, 75 interactors
CORUMiO95613
DIPiDIP-33829N
ELMiO95613
IntActiO95613, 42 interactors
MINTiO95613
STRINGi9606.ENSP00000352572

PTM databases

iPTMnetiO95613
PhosphoSitePlusiO95613

Polymorphism and mutation databases

BioMutaiPCNT

Proteomic databases

EPDiO95613
MaxQBiO95613
PaxDbiO95613
PeptideAtlasiO95613
PRIDEiO95613
ProteomicsDBi50949
50950 [O95613-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359568; ENSP00000352572; ENSG00000160299 [O95613-1]
GeneIDi5116
KEGGihsa:5116
UCSCiuc002zji.4 human [O95613-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5116
DisGeNETi5116
EuPathDBiHostDB:ENSG00000160299.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		PCNT

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0203117
HGNCiHGNC:16068 PCNT
HPAiHPA016820
HPA019887
HPA032101
MalaCardsiPCNT
MIMi210720 phenotype
605925 gene
neXtProtiNX_O95613
OpenTargetsiENSG00000160299
Orphaneti2637 Microcephalic osteodysplastic primordial dwarfism type II
808 Seckel syndrome
PharmGKBiPA33079

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IJHT Eukaryota
ENOG4110FJZ LUCA
GeneTreeiENSGT00730000110871
HOGENOMiHOG000168229
HOVERGENiHBG079443
InParanoidiO95613
KOiK16481
OMAiALKHEQT
OrthoDBiEOG091G001R
PhylomeDBiO95613
TreeFamiTF336114

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2
SIGNORiO95613

Miscellaneous databases

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

More...ChiTaRSi		PCNT human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PCNT

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

More...GenomeRNAii		5116

Protein Ontology

More...PROi		PR:O95613

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000160299 Expressed in 224 organ(s), highest expression level in gastrocnemius
CleanExiHS_PCNT
ExpressionAtlasiO95613 baseline and differential
GenevisibleiO95613 HS

Family and domain databases

InterProiView protein in InterPro
IPR028745 AKAP9/Pericentrin
IPR019528 PACT_domain
PANTHERiPTHR44981 PTHR44981, 7 hits
PfamiView protein in Pfam
PF10495 PACT_coil_coil, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiPCNT_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: O95613
Secondary accession number(s): O43152, Q7Z7C9
<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: May 30, 2000
Last sequence update: November 30, 2010
Last modified: November 7, 2018
This is version 179 of the entry and version 4 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 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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