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Q8NEM0 (MCPH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Microcephalin
Gene names
Name:MCPH1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length835 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6 Ref.7 Ref.8

Subunit structure

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

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome Ref.9.

Tissue specificity

Expressed in fetal brain, liver and kidney. Ref.6

Domain

BRCT domain 1 is required to prevent abnormal chromosome condensation. It binds directly to the SWI-SNF chromatin remodeling complex (Ref.11).

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 (Ref.12, Ref.14 and Ref.14).

Involvement in disease

Microcephaly 1, primary, autosomal recessive (MCPH1) [MIM:251200]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.15

Miscellaneous

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

Sequence similarities

Contains 3 BRCT domains.

Ontologies

Keywords
   Cellular componentCytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseMental retardation
Primary microcephaly
   DomainRepeat
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmitotic cell cycle

Traceable author statement. Source: Reactome

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

microtubule organizing center

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleoplasm

Traceable author statement. Source: Reactome

   Molecular_functionidentical protein binding

Inferred from physical interaction PubMed 18660752. Source: IntAct

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

itself2EBI-1565483,EBI-1565483
E2F1Q010946EBI-1565483,EBI-448924

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NEM0-1)

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.
Isoform 2 (identifier: Q8NEM0-2)

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.
Isoform 3 (identifier: Q8NEM0-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 835835Microcephalin
PRO_0000096296

Regions

Domain1 – 9393BRCT 1
Domain640 – 73091BRCT 2
Domain751 – 83383BRCT 3

Amino acid modifications

Modified residue3331Phosphoserine Ref.10

Natural variations

Alternative sequence146 – 19449DDDVP…LSPTS → A in isoform 2.
VSP_046135
Alternative sequence6101V → M in isoform 2 and isoform 3.
VSP_046136
Alternative sequence611 – 835225Missing in isoform 2 and isoform 3.
VSP_046137
Natural variant271T → R in MCPH1; mild phenotype. Ref.15
VAR_046745
Natural variant1711R → S. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs2442513 [ dbSNP | Ensembl ].
VAR_046746
Natural variant2121A → T.
Corresponds to variant rs2922828 [ dbSNP | Ensembl ].
VAR_046747
Natural variant2641I → V.
Corresponds to variant rs34121009 [ dbSNP | Ensembl ].
VAR_046748
Natural variant2881P → H.
Corresponds to variant rs35590577 [ dbSNP | Ensembl ].
VAR_046749
Natural variant3041R → I.
Corresponds to variant rs2083914 [ dbSNP | Ensembl ].
VAR_046750
Natural variant3141D → H. Ref.2 Ref.4 Ref.5 Ref.16
Corresponds to variant rs930557 [ dbSNP | Ensembl ].
VAR_046751
Natural variant3921D → G. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs2515569 [ dbSNP | Ensembl ].
VAR_046752
Natural variant5801S → G.
Corresponds to variant rs17076894 [ dbSNP | Ensembl ].
VAR_046753
Natural variant6021L → F.
Corresponds to variant rs34418490 [ dbSNP | Ensembl ].
VAR_046754
Natural variant6821T → N.
Corresponds to variant rs12674488 [ dbSNP | Ensembl ].
VAR_046755
Natural variant7611V → A May be associated with cranial volume variation in males in a Chinese population. Ref.13 Ref.16
Corresponds to variant rs1057090 [ dbSNP | Ensembl ].
VAR_046756
Natural variant8281P → S. Ref.16
Corresponds to variant rs1057091 [ dbSNP | Ensembl ].
VAR_046757

Secondary structure

.......................................................... 835
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: D1797320C5D0D928

FASTA83592,877
        10         20         30         40         50         60 
MAAPILKDVV AYVEVWSSNG TENYSKTFTT QLVDMGAKVS KTFNKQVTHV IFKDGYQSTW 

        70         80         90        100        110        120 
DKAQKRGVKL VSVLWVEKCR TAGAHIDESL FPAANMNEHL SSLIKKKRKC MQPKDFNFKT 

       130        140        150        160        170        180 
PENDKRFQKK FEKMAKELQR QKTNLDDDVP ILLFESNGSL IYTPTIEINS RHHSAMEKRL 

       190        200        210        220        230        240 
QEMKEKRENL SPTSSQMIQQ SHDNPSNSLC EAPLNISRDT LCSDEYFAGG LHSSFDDLCG 

       250        260        270        280        290        300 
NSGCGNQERK LEGSINDIKS DVCISSLVLK ANNIHSSPSF THLDKSSPQK FLSNLSKEEI 

       310        320        330        340        350        360 
NLQRNIAGKV VTPDQKQAAG MSQETFEEKY RLSPTLSSTK GHLLIHSRPR SSSVKRKRVS 

       370        380        390        400        410        420 
HGSHSPPKEK CKRKRSTRRS IMPRLQLCRS EDRLQHVAGP ALEALSCGES SYDDYFSPDN 

       430        440        450        460        470        480 
LKERYSENLP PESQLPSSPA QLSCRSLSKK ERTSIFEMSD FSCVGKKTRT VDITNFTAKT 

       490        500        510        520        530        540 
ISSPRKTGNG EGRATSSCVT SAPEEALRCC RQAGKEDACP EGNGFSYTIE DPALPKGHDD 

       550        560        570        580        590        600 
DLTPLEGSLE EMKEAVGLKS TQNKGTTSKI SNSSEGEAQS EHEPCFIVDC NMETSTEEKE 

       610        620        630        640        650        660 
NLPGGYSGSV KNRPTRHDVL DDSCDGFKDL IKPHEELKKS GRGKKPTRTL VMTSMPSEKQ 

       670        680        690        700        710        720 
NVVIQVVDKL KGFSIAPDVC ETTTHVLSGK PLRTLNVLLG IARGCWVLSY DWVLWSLELG 

       730        740        750        760        770        780 
HWISEEPFEL SHHFPAAPLC RSECHLSAGP YRGTLFADQP VMFVSPASSP PVAKLCELVH 

       790        800        810        820        830 
LCGGRVSQVP RQASIVIGPY SGKKKATVKY LSEKWVLDSI TQHKVCAPEN YLLSQ 

« Hide

Isoform 2 [UniParc].

Checksum: FEF23EDAC81BBF8E
Show »

FASTA56262,333
Isoform 3 [UniParc].

Checksum: 615DA760A3F01C09
Show »

FASTA61067,915

References

« Hide 'large scale' references
[1]"Prostate cancer-related gene 3 (pg3) and biallelic markers thereof."
Barry C., Chumakov I., Blumenfeld M.
Patent number WO0114550, 01-MAR-2001
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS SER-171 AND GLY-392.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 96-835, VARIANTS SER-171; HIS-314 AND GLY-392.
Tissue: Testis.
[3]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS SER-171; HIS-314 AND GLY-392.
Tissue: Testis.
[5]Lin S.-Y., Elledge S.J.
Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-835 (ISOFORM 1), VARIANTS SER-171; HIS-314 AND GLY-392.
[6]"Identification of microcephalin, a protein implicated in determining the size of the human brain."
Jackson A.P., Eastwood H., Bell S.M., Toomes C., Adu J., Carr I.M., Roberts E., Hampshire D.J., Crow Y.J., Mighell A.J., Karbani G., Jafri H., Rashid Y., Mueller R.F., Markham A.F., Woods C.G.
Am. J. Hum. Genet. 71:136-142(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN MCPH1.
[7]"Mutations in microcephalin cause aberrant regulation of chromosome condensation."
Trimborn M., Bell S.M., Felix C., Rashid Y., Jafri H., Griffiths P.D., Neumann L.M., Krebs A., Reis A., Sperling K., Neitzel H., Jackson A.P.
Am. J. Hum. Genet. 75:261-266(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INVOLVEMENT IN MCPH1.
[8]"Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1."
Xu X., Lee J., Stern D.F.
J. Biol. Chem. 279:34091-34094(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[9]"Microcephalin encodes a centrosomal protein."
Zhong X., Pfeifer G.P., Xu X.
Cell Cycle 5:457-458(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[10]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-333, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"A pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation."
Richards M.W., Leung J.W., Roe S.M., Li K., Chen J., Bayliss R.
J. Mol. Biol. 395:908-915(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 1-95.
[12]"Molecular basis for the association of microcephalin (MCPH1) protein with the cell division cycle protein 27 (Cdc27) subunit of the anaphase-promoting complex."
Singh N., Wiltshire T.D., Thompson J.R., Mer G., Couch F.J.
J. Biol. Chem. 287:2854-2862(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 640-835 IN COMPLEX WITH PHOSPHORYLATED CDC27 PEPTIDE.
[13]"Specific recognition of phosphorylated tail of H2AX by the tandem BRCT domains of MCPH1 revealed by complex structure."
Shao Z., Li F., Sy S.M., Yan W., Zhang Z., Gong D., Wen B., Huen M.S., Gong Q., Wu J., Shi Y.
J. Struct. Biol. 177:459-468(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 639-835 OF MUTANT ALA-761 ALONE AND IN COMPLEX WITH H2FAX PEPTIDE.
[14]"Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1."
Singh N., Basnet H., Wiltshire T.D., Mohammad D.H., Thompson J.R., Heroux A., Botuyan M.V., Yaffe M.B., Couch F.J., Rosenfeld M.G., Mer G.
Proc. Natl. Acad. Sci. U.S.A. 109:14381-14386(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 640-835.
[15]"The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype."
Trimborn M., Richter R., Sternberg N., Gavvovidis I., Schindler D., Jackson A.P., Prott E.-C., Sperling K., Gillessen-Kaesbach G., Neitzel H.
Hum. Mutat. 26:496-496(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MCPH1 ARG-27.
[16]"A common SNP of MCPH1 is associated with cranial volume variation in Chinese population."
Wang J.-K., Li Y., Su B.
Hum. Mol. Genet. 17:1329-1335(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HIS-314; ALA-761 AND SER-828.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
BC030702 mRNA. Translation: AAH30702.2.
BK004076 mRNA. Translation: DAA04567.1.
RefSeqNP_001166045.1. NM_001172574.1.
NP_001166046.1. NM_001172575.1.
NP_078872.2. NM_024596.3.
UniGeneHs.656769.
Hs.708770.

3D structure databases

PDBe
RCSB PDB
PDBj
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[»]
ProteinModelPortalQ8NEM0.
SMRQ8NEM0. Positions 2-100, 646-834.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122776. 23 interactions.
DIPDIP-39802N.
IntActQ8NEM0. 7 interactions.
STRING9606.ENSP00000342924.

PTM databases

PhosphoSiteQ8NEM0.

Polymorphism databases

DMDM296439305.

Proteomic databases

PaxDbQ8NEM0.
PRIDEQ8NEM0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000519480; ENSP00000430962; ENSG00000147316. [Q8NEM0-3]
ENST00000522905; ENSP00000430768; ENSG00000147316. [Q8NEM0-2]
GeneID79648.
KEGGhsa:79648.
UCSCuc003wqi.3. human. [Q8NEM0-1]

Organism-specific databases

CTD79648.
GeneCardsGC08P006276.
HGNCHGNC:6954. MCPH1.
HPACAB012177.
HPA008238.
MIM251200. phenotype.
607117. gene.
neXtProtNX_Q8NEM0.
Orphanet2512. Autosomal recessive primary microcephaly.
52183. Premature chromosome condensation with microcephaly and intellectual deficit.
PharmGKBPA30701.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293743.
HOGENOMHOG000113501.
HOVERGENHBG052433.
InParanoidQ8NEM0.
OrthoDBEOG7VX8X3.
PhylomeDBQ8NEM0.
TreeFamTF332942.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.
REACT_21300. Mitotic M-M/G1 phases.
SignaLinkQ8NEM0.

Gene expression databases

ArrayExpressQ8NEM0.
BgeeQ8NEM0.
CleanExHS_MCPH1.
GenevestigatorQ8NEM0.

Family and domain databases

Gene3D3.40.50.10190. 3 hits.
InterProIPR001357. BRCT_dom.
IPR022047. Microcephalin.
[Graphical view]
PANTHERPTHR14625. PTHR14625. 1 hit.
PfamPF00533. BRCT. 1 hit.
PF12258. Microcephalin. 1 hit.
PF12738. PTCB-BRCT. 1 hit.
[Graphical view]
SMARTSM00292. BRCT. 3 hits.
[Graphical view]
SUPFAMSSF52113. SSF52113. 3 hits.
PROSITEPS50172. BRCT. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMCPH1. human.
EvolutionaryTraceQ8NEM0.
GenomeRNAi79648.
NextBio35501988.
PROQ8NEM0.
SOURCESearch...

Entry information

Entry nameMCPH1_HUMAN
AccessionPrimary (citable) accession number: Q8NEM0
Secondary accession number(s): B4DWW2 expand/collapse secondary AC list , E9PGU5, E9PH63, Q66GU1, Q9H9C7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 107 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM