Q8NEM0 (MCPH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Microcephalin

Gene names

Name:

MCPH1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	835 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton › centrosome 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, primary, 1 (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 component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Mental retardation Primary microcephaly
Domain	Repeat
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of gene expression Inferred from electronic annotation. Source: Compara regulation of kinase activity Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW microtubule organizing center Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 2 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.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 835

835

Microcephalin

PRO_0000096296

Regions

Domain

1 – 93

93

BRCT 1

Domain

640 – 730

91

BRCT 2

Domain

751 – 833

83

BRCT 3

Amino acid modifications

Modified residue

333

1

Phosphoserine Ref.10

Natural variations

Alternative sequence

146 – 194

49

DDDVP…LSPTS → A in isoform 2.

VSP_046135

Alternative sequence

610

1

V → M in isoform 2.

VSP_046136

Alternative sequence

611 – 835

225

Missing in isoform 2.

VSP_046137

Natural variant

27

1

T → R in MCPH1; mild phenotype. Ref.15

VAR_046745

Natural variant

171

1

R → S. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs2442513 [ dbSNP | Ensembl ].

VAR_046746

Natural variant

212

1

A → T.
Corresponds to variant rs2922828 [ dbSNP | Ensembl ].

VAR_046747

Natural variant

264

1

I → V.
Corresponds to variant rs34121009 [ dbSNP | Ensembl ].

VAR_046748

Natural variant

288

1

P → H.
Corresponds to variant rs35590577 [ dbSNP | Ensembl ].

VAR_046749

Natural variant

304

1

R → I.
Corresponds to variant rs2083914 [ dbSNP | Ensembl ].

VAR_046750

Natural variant

314

1

D → H. Ref.2 Ref.4 Ref.5 Ref.16
Corresponds to variant rs930557 [ dbSNP | Ensembl ].

VAR_046751

Natural variant

392

1

D → G. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs2515569 [ dbSNP | Ensembl ].

VAR_046752

Natural variant

580

1

S → G.
Corresponds to variant rs17076894 [ dbSNP | Ensembl ].

VAR_046753

Natural variant

602

1

L → F.
Corresponds to variant rs34418490 [ dbSNP | Ensembl ].

VAR_046754

Natural variant

682

1

T → N.
Corresponds to variant rs12674488 [ dbSNP | Ensembl ].

VAR_046755

Natural variant

761

1

V → 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 variant

828

1

P → S. Ref.16
Corresponds to variant rs1057091 [ dbSNP | Ensembl ].

VAR_046757

Secondary structure

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835

Helix Strand Turn

Details...

Turn

5 – 8

4

Beta strand

10 – 16

7

Helix

25 – 34

10

Beta strand

49 – 54

6

Helix

57 – 66

10

Beta strand

69 – 71

3

Helix

73 – 82

10

Helix

88 – 90

3

Turn

96 – 99

4

Beta strand

649 – 654

6

Helix

657 – 670

14

Beta strand

674 – 678

5

Beta strand

683 – 690

8

Helix

695 – 702

8

Beta strand

706 – 709

4

Helix

711 – 719

9

Helix

726 – 728

3

Turn

731 – 733

3

Helix

736 – 746

11

Beta strand

748 – 750

3

Turn

755 – 758

4

Beta strand

762 – 764

3

Helix

772 – 781

10

Beta strand

786 – 789

4

Helix

790 – 792

3

Beta strand

794 – 798

5

Beta strand

809 – 811

3

Helix

813 – 822

10

Helix

828 – 831

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: D1797320C5D0D928	FASTA	835	92,877
	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
	Isoform 2 [UniParc]. Checksum: FEF23EDAC81BBF8E	FASTA	562	62,333
	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 QKTNLASQMI QQSHDNPSNS LCEAPLNISR DTLCSDEYFA 190 200 210 220 230 240 GGLHSSFDDL CGNSGCGNQE RKLEGSINDI KSDVCISSLV LKANNIHSSP SFTHLDKSSP 250 260 270 280 290 300 QKFLSNLSKE EINLQRNIAG KVVTPDQKQA AGMSQETFEE KYRLSPTLSS TKGHLLIHSR 310 320 330 340 350 360 PRSSSVKRKR VSHGSHSPPK EKCKRKRSTR RSIMPRLQLC RSEDRLQHVA GPALEALSCG 370 380 390 400 410 420 ESSYDDYFSP DNLKERYSEN LPPESQLPSS PAQLSCRSLS KKERTSIFEM SDFSCVGKKT 430 440 450 460 470 480 RTVDITNFTA KTISSPRKTG NGEGRATSSC VTSAPEEALR CCRQAGKEDA CPEGNGFSYT 490 500 510 520 530 540 IEDPALPKGH DDDLTPLEGS LEEMKEAVGL KSTQNKGTTS KISNSSEGEA QSEHEPCFIV 550 560 DCNMETSTEE KENLPGGYSG SM

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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

Protein Spotlight

A grey matter - Issue 64 of November 2005

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.

IPI

IPI00002374.
IPI00956107.

RefSeq

NP_001166045.1. NM_001172574.1.
NP_001166046.1. NM_001172575.1.
NP_078872.2. NM_024596.3.

UniGene

Hs.656769.
Hs.708770.
Hs.721952.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2WT8	X-ray	1.60	A/B/C/D	1-95	[»]
3KTF	X-ray	1.60	A/B/C	1-101	[»]
3PA6	X-ray	1.50	A/B/C	1-105	[»]
3SHT	X-ray	1.95	A/B/C	639-835	[»]
3SHV	X-ray	2.10	A/B	639-835	[»]
3SZM	X-ray	2.63	A/B/C/D/E/F/G/H	640-835	[»]
3T1N	X-ray	2.60	A/B	640-835	[»]
3U3Z	X-ray	1.50	A	640-835	[»]

ProteinModelPortal

Q8NEM0.

SMR

Q8NEM0. Positions 2-100, 646-834.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-39802N.

IntAct

Q8NEM0. 4 interactions.

STRING

9606.ENSP00000342924.

PTM databases

PhosphoSite

Q8NEM0.

Polymorphism databases

DMDM

296439305.

Proteomic databases

PaxDb

Q8NEM0.

PRIDE

Q8NEM0.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000522905; ENSP00000430768; ENSG00000147316.

GeneID

79648.

KEGG

hsa:79648.

UCSC

uc003wqi.3. human.

Organism-specific databases

CTD

79648.

GeneCards

GC08P006276.

HGNC

HGNC:6954. MCPH1.

HPA

CAB012177.
HPA008238.

MIM

251200. phenotype.
607117. gene.

neXtProt

NX_Q8NEM0.

Orphanet

2512. Autosomal recessive primary microcephaly.
52183. Premature chromosome condensation with microcephaly and intellectual deficit.

PharmGKB

PA30701.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG293743.

HOGENOM

HOG000113501.

HOVERGEN

HBG052433.

InParanoid

Q8NEM0.

OrthoDB

EOG4N30P1.

Gene expression databases

ArrayExpress

Q8NEM0.

Bgee

Q8NEM0.

CleanEx

HS_MCPH1.

Genevestigator

Q8NEM0.

Family and domain databases

InterPro

IPR001357. BRCT_dom.
IPR022047. Microcephalin.
[Graphical view]

PANTHER

PTHR14625. PTHR14625. 1 hit.

Pfam

PF00533. BRCT. 1 hit.
PF12258. Microcephalin. 1 hit.
[Graphical view]

SMART

SM00292. BRCT. 3 hits.
[Graphical view]

SUPFAM

SSF52113. BRCT. 1 hit.

PROSITE

PS50172. BRCT. 3 hits.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

MCPH1. human.

EvolutionaryTrace

Q8NEM0.

GenomeRNAi

79648.

NextBio

68796.

SOURCE

Search...

Entry information

Entry name

MCPH1_HUMAN

Accession

Primary (citable) accession number: Q8NEM0
Secondary accession number(s): B4DWW2 , E9PH63, Q66GU1, Q9H9C7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 24, 2004
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 97 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.