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Entry version 156 (08 May 2019)
Sequence version 4 (10 May 2017)
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Protein

Microcephalin

Gene

MCPH1

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

Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.3 Publications

Miscellaneous

MCPH1 deficient cells exhibit a delay in post-mitotic chromosome decondensation.

<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

  • identical protein binding Source: IntAct

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2299718 Condensation of Prophase Chromosomes

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q8NEM0

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8NEM0

<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:
Microcephalin1 Publication
<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:MCPH1Imported
<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 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6954 MCPH1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607117 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NEM0

<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

<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>Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<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 1, primary, autosomal recessive (MCPH1)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. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding.
See also OMIM:251200
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_04674527T → R in MCPH1; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs199422124EnsemblClinVar.1

Keywords - Diseasei

Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNET

More...
DisGeNETi
79648

MalaCards human disease database

More...
MalaCardsi
MCPH1
MIMi251200 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000147316

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

More...
PharmGKBi
PA30701

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MCPH1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439305

<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_00000962961 – 835MicrocephalinAdd BLAST835

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 residuei279PhosphoserineCombined sources1
Modified residuei287PhosphoserineCombined sources1
Modified residuei296PhosphoserineBy similarity1
Modified residuei333PhosphoserineCombined sources1
Modified residuei335PhosphothreonineCombined sources1
Modified residuei548PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NEM0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8NEM0

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

More...
PaxDbi
Q8NEM0

PeptideAtlas

More...
PeptideAtlasi
Q8NEM0

PRoteomics IDEntifications database

More...
PRIDEi
Q8NEM0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
73178

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NEM0

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

More...
PhosphoSitePlusi
Q8NEM0

<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 fetal brain, liver and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000147316 Expressed in 172 organ(s), highest expression level in skeletal muscle tissue

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8NEM0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB012177
HPA008238

<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 CDC27 and maybe other components of the APC/C complex. Interacts with histone variant H2AFX under DNA damage conditions.2 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122776, 90 interactors

Database of interacting proteins

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DIPi
DIP-39802N

Protein interaction database and analysis system

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IntActi
Q8NEM0, 11 interactors

Molecular INTeraction database

More...
MINTi
Q8NEM0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000342924

<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

Secondary structure

1835
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2WT8X-ray1.60A/B/C/D1-95[»]
3KTFX-ray1.60A/B/C1-101[»]
3PA6X-ray1.50A/B/C1-105[»]
3SHTX-ray1.95A/B/C639-835[»]
3SHVX-ray2.10A/B639-835[»]
3SZMX-ray2.63A/B/C/D/E/F/G/H640-835[»]
3T1NX-ray2.60A/B640-835[»]
3U3ZX-ray1.50A640-835[»]

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

More...
SMRi
Q8NEM0

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q8NEM0

<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>Domaini1 – 93BRCT 1PROSITE-ProRule annotationAdd BLAST93
Domaini640 – 730BRCT 2PROSITE-ProRule annotationAdd BLAST91
Domaini751 – 833BRCT 3PROSITE-ProRule annotationAdd BLAST83

<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

BRCT domain 1 is required to prevent abnormal chromosome condensation. It binds directly to the SWI-SNF chromatin remodeling complex (PubMed:19925808).1 Publication
BRCT domains 2 and 3 recognize phosphoserine/phosphothreonine marks on proteins with high selectivity, and mediate interaction with phosphorylated CDC27. They also mediate the dual recognition of phosphoserine and phosphotyrosine in the C-terminal tail of histone H2AFX (PubMed:22139841, PubMed:22908299 and PubMed:22908299).

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4362 Eukaryota
ENOG41120NI LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000018842

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000113501

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NEM0

KEGG Orthology (KO)

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KOi
K19403

Identification of Orthologs from Complete Genome Data

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OMAi
TLCSDES

Database of Orthologous Groups

More...
OrthoDBi
1249457at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NEM0

TreeFam database of animal gene trees

More...
TreeFami
TF332942

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00027 BRCT, 3 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.10190, 3 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR022047 Microcephalin-like
IPR029504 Microcephalin_mammal

The PANTHER Classification System

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PANTHERi
PTHR14625 PTHR14625, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16589 BRCT_2, 1 hit
PF12258 Microcephalin, 1 hit
PF12738 PTCB-BRCT, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00292 BRCT, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52113 SSF52113, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50172 BRCT, 3 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)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 3 <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
Isoform 1 (identifier: Q8NEM0-1) [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
MAAPILKDVV AYVEVWSSNG TENYSKTFTT QLVDMGAKVS KTFNKQVTHV
60 70 80 90 100
IFKDGYQSTW DKAQKRGVKL VSVLWVEKCR TAGAHIDESL FPAANMNEHL
110 120 130 140 150
SSLIKKKRKC MQPKDFNFKT PENDKRFQKK FEKMAKELQR QKTNLDDDVP
160 170 180 190 200
ILLFESNGSL IYTPTIEINS RHHSAMEKRL QEMKEKRENL SPTSSQMIQQ
210 220 230 240 250
SHDNPSNSLC EAPLNISRDT LCSDEYFAGG LHSSFDDLCG NSGCGNQERK
260 270 280 290 300
LEGSINDIKS DVCISSLVLK ANNIHSSPSF THLDKSSPQK FLSNLSKEEI
310 320 330 340 350
NLQRNIAGKV VTPDQKQAAG MSQETFEEKY RLSPTLSSTK GHLLIHSRPR
360 370 380 390 400
SSSVKRKRVS HGSHSPPKEK CKRKRSTRRS IMPRLQLCRS EDRLQHVAGP
410 420 430 440 450
ALEALSCGES SYDDYFSPDN LKERYSENLP PESQLPSSPA QLSCRSLSKK
460 470 480 490 500
ERTSIFEMSD FSCVGKKTRT VDITNFTAKT ISSPRKTGNG EGRATSSCVT
510 520 530 540 550
SAPEEALRCC RQAGKEDACP EGNGFSYTIE DPALPKGHDD DLTPLEGSLE
560 570 580 590 600
EMKEAVGLKS TQNKGTTSKI SNSSEGEAQS EHEPCFIVDC NMETSTEEKE
610 620 630 640 650
NLPGGYSGSV KNRPTRHDVL DDSCDGFKDL IKPHEELKKS GRGKKPTRTL
660 670 680 690 700
VMTSMPSEKQ NVVIQVVDKL KGFSIAPDVC ETTTHVLSGK PLRTLNVLLG
710 720 730 740 750
IARGCWVLSY DWVLWSLELG HWISEEPFEL SHHFPAAPLC RSECHLSAGP
760 770 780 790 800
YRGTLFADQP AMFVSPASSP PVAKLCELVH LCGGRVSQVP RQASIVIGPY
810 820 830
SGKKKATVKY LSEKWVLDSI TQHKVCAPEN YLLSQ
Length:835
Mass (Da):92,849
Last modified:May 10, 2017 - 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:iD17961B94EC240A3
GO
Isoform 2 (identifier: Q8NEM0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     146-194: DDDVPILLFESNGSLIYTPTIEINSRHHSAMEKRLQEMKEKRENLSPTS → A
     610-610: V → M
     611-835: Missing.

Note: No experimental confirmation available.
Show »
Length:562
Mass (Da):62,333
Checksum:iFEF23EDAC81BBF8E
GO
Isoform 3 (identifier: Q8NEM0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     610-610: V → M
     611-835: Missing.

Show »
Length:610
Mass (Da):67,915
Checksum:i615DA760A3F01C09
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04674527T → R in MCPH1; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs199422124EnsemblClinVar.1
Natural variantiVAR_046746171R → S4 PublicationsCorresponds to variant dbSNP:rs2442513Ensembl.1
Natural variantiVAR_046747212A → T. Corresponds to variant dbSNP:rs2922828EnsemblClinVar.1
Natural variantiVAR_046748264I → V. Corresponds to variant dbSNP:rs34121009EnsemblClinVar.1
Natural variantiVAR_046749288P → H. Corresponds to variant dbSNP:rs35590577EnsemblClinVar.1
Natural variantiVAR_046750304R → I. Corresponds to variant dbSNP:rs2083914EnsemblClinVar.1
Natural variantiVAR_046751314D → H4 PublicationsCorresponds to variant dbSNP:rs930557EnsemblClinVar.1
Natural variantiVAR_046752392D → G4 PublicationsCorresponds to variant dbSNP:rs2515569EnsemblClinVar.1
Natural variantiVAR_046753580S → G. Corresponds to variant dbSNP:rs17076894EnsemblClinVar.1
Natural variantiVAR_046754602L → F. Corresponds to variant dbSNP:rs34418490EnsemblClinVar.1
Natural variantiVAR_046755682T → N. Corresponds to variant dbSNP:rs12674488EnsemblClinVar.1
Natural variantiVAR_046756761A → V1 PublicationCorresponds to variant dbSNP:rs1057090EnsemblClinVar.1
Natural variantiVAR_046757828P → S1 PublicationCorresponds to variant dbSNP:rs1057091EnsemblClinVar.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_046135146 – 194DDDVP…LSPTS → A in isoform 2. 2 PublicationsAdd BLAST49
Alternative sequenceiVSP_046136610V → M in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_046137611 – 835Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST225

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AX087870 mRNA Translation: CAC34661.1
AK022909 mRNA Translation: BAB14304.1
AK301702 mRNA Translation: BAG63174.1
AC016065 Genomic DNA No translation available.
AC018398 Genomic DNA No translation available.
AF287957 Genomic DNA No translation available.
KC877206 Genomic DNA No translation available.
KC877207 Genomic DNA No translation available.
BC030702 mRNA Translation: AAH30702.2
BK004076 mRNA Translation: DAA04567.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43689.1 [Q8NEM0-1]
CCDS55190.1 [Q8NEM0-3]
CCDS55191.1 [Q8NEM0-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001166045.1, NM_001172574.1
NP_001166046.1, NM_001172575.1 [Q8NEM0-2]
NP_001308971.1, NM_001322042.1
NP_001308972.1, NM_001322043.1
NP_001308974.1, NM_001322045.1
NP_078872.2, NM_024596.4 [Q8NEM0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000344683; ENSP00000342924; ENSG00000147316 [Q8NEM0-1]
ENST00000519480; ENSP00000430962; ENSG00000147316 [Q8NEM0-3]
ENST00000522905; ENSP00000430768; ENSG00000147316 [Q8NEM0-2]
ENST00000643429; ENSP00000496505; ENSG00000285262 [Q8NEM0-3]
ENST00000646478; ENSP00000494584; ENSG00000285262 [Q8NEM0-2]
ENST00000647051; ENSP00000493874; ENSG00000285262 [Q8NEM0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79648

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79648

UCSC genome browser

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UCSCi
uc003wqh.4 human [Q8NEM0-1]

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

Protein Spotlight

A grey matter - Issue 64 of November 2005

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AX087870 mRNA Translation: CAC34661.1
AK022909 mRNA Translation: BAB14304.1
AK301702 mRNA Translation: BAG63174.1
AC016065 Genomic DNA No translation available.
AC018398 Genomic DNA No translation available.
AF287957 Genomic DNA No translation available.
KC877206 Genomic DNA No translation available.
KC877207 Genomic DNA No translation available.
BC030702 mRNA Translation: AAH30702.2
BK004076 mRNA Translation: DAA04567.1
CCDSiCCDS43689.1 [Q8NEM0-1]
CCDS55190.1 [Q8NEM0-3]
CCDS55191.1 [Q8NEM0-2]
RefSeqiNP_001166045.1, NM_001172574.1
NP_001166046.1, NM_001172575.1 [Q8NEM0-2]
NP_001308971.1, NM_001322042.1
NP_001308972.1, NM_001322043.1
NP_001308974.1, NM_001322045.1
NP_078872.2, NM_024596.4 [Q8NEM0-1]

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2WT8X-ray1.60A/B/C/D1-95[»]
3KTFX-ray1.60A/B/C1-101[»]
3PA6X-ray1.50A/B/C1-105[»]
3SHTX-ray1.95A/B/C639-835[»]
3SHVX-ray2.10A/B639-835[»]
3SZMX-ray2.63A/B/C/D/E/F/G/H640-835[»]
3T1NX-ray2.60A/B640-835[»]
3U3ZX-ray1.50A640-835[»]
SMRiQ8NEM0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122776, 90 interactors
DIPiDIP-39802N
IntActiQ8NEM0, 11 interactors
MINTiQ8NEM0
STRINGi9606.ENSP00000342924

PTM databases

iPTMnetiQ8NEM0
PhosphoSitePlusiQ8NEM0

Polymorphism and mutation databases

BioMutaiMCPH1
DMDMi296439305

Proteomic databases

EPDiQ8NEM0
jPOSTiQ8NEM0
PaxDbiQ8NEM0
PeptideAtlasiQ8NEM0
PRIDEiQ8NEM0
ProteomicsDBi73178

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000344683; ENSP00000342924; ENSG00000147316 [Q8NEM0-1]
ENST00000519480; ENSP00000430962; ENSG00000147316 [Q8NEM0-3]
ENST00000522905; ENSP00000430768; ENSG00000147316 [Q8NEM0-2]
ENST00000643429; ENSP00000496505; ENSG00000285262 [Q8NEM0-3]
ENST00000646478; ENSP00000494584; ENSG00000285262 [Q8NEM0-2]
ENST00000647051; ENSP00000493874; ENSG00000285262 [Q8NEM0-1]
GeneIDi79648
KEGGihsa:79648
UCSCiuc003wqh.4 human [Q8NEM0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79648
DisGeNETi79648

GeneCards: human genes, protein and diseases

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GeneCardsi
MCPH1
HGNCiHGNC:6954 MCPH1
HPAiCAB012177
HPA008238
MalaCardsiMCPH1
MIMi251200 phenotype
607117 gene
neXtProtiNX_Q8NEM0
OpenTargetsiENSG00000147316
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA30701

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4362 Eukaryota
ENOG41120NI LUCA
GeneTreeiENSGT00390000018842
HOGENOMiHOG000113501
InParanoidiQ8NEM0
KOiK19403
OMAiTLCSDES
OrthoDBi1249457at2759
PhylomeDBiQ8NEM0
TreeFamiTF332942

Enzyme and pathway databases

ReactomeiR-HSA-2299718 Condensation of Prophase Chromosomes
SignaLinkiQ8NEM0
SIGNORiQ8NEM0

Miscellaneous databases

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

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ChiTaRSi
MCPH1 human
EvolutionaryTraceiQ8NEM0

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

More...
GenomeRNAii
79648

Protein Ontology

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PROi
PR:Q8NEM0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000147316 Expressed in 172 organ(s), highest expression level in skeletal muscle tissue
GenevisibleiQ8NEM0 HS

Family and domain databases

CDDicd00027 BRCT, 3 hits
Gene3Di3.40.50.10190, 3 hits
InterProiView protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR022047 Microcephalin-like
IPR029504 Microcephalin_mammal
PANTHERiPTHR14625 PTHR14625, 1 hit
PfamiView protein in Pfam
PF16589 BRCT_2, 1 hit
PF12258 Microcephalin, 1 hit
PF12738 PTCB-BRCT, 1 hit
SMARTiView protein in SMART
SM00292 BRCT, 3 hits
SUPFAMiSSF52113 SSF52113, 3 hits
PROSITEiView protein in PROSITE
PS50172 BRCT, 3 hits

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 nameiMCPH1_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: Q8NEM0
Secondary accession number(s): A0A075B6F8
, B4DWW2, E9PGU5, E9PH63, Q66GU1, Q9H9C7
<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 24, 2004
Last sequence update: May 10, 2017
Last modified: May 8, 2019
This is version 156 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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