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Q4G0Z9 (MCMD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
MCM domain-containing protein 2
Gene names
Name:MCMDC2
Synonyms:C8orf45
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length681 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Contains 1 MCM domain.

Sequence caution

The sequence AAH34576.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAH63108.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processDNA replication

Inferred from electronic annotation. Source: InterPro

   Molecular_functionATP binding

Inferred from electronic annotation. Source: InterPro

DNA binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q4G0Z9-1)

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: Q4G0Z9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     591-681: Missing.
Isoform 3 (identifier: Q4G0Z9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-242: Missing.
Isoform 4 (identifier: Q4G0Z9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-63: Missing.
     64-75: HQPLKAAEVFQS → MIASTTMVRSAK

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 681681MCM domain-containing protein 2
PRO_0000255258

Regions

Domain533 – 62189MCM

Amino acid modifications

Modified residue2921Phosphoserine Ref.5

Natural variations

Alternative sequence1 – 242242Missing in isoform 3.
VSP_038998
Alternative sequence1 – 6363Missing in isoform 4.
VSP_038999
Alternative sequence64 – 7512HQPLK…EVFQS → MIASTTMVRSAK in isoform 4.
VSP_039000
Alternative sequence591 – 68191Missing in isoform 2.
VSP_039001
Natural variant1371M → K.
Corresponds to variant rs16933088 [ dbSNP | Ensembl ].
VAR_028861
Natural variant3221L → V.
Corresponds to variant rs17332410 [ dbSNP | Ensembl ].
VAR_028862
Natural variant5831S → A.
Corresponds to variant rs11778562 [ dbSNP | Ensembl ].
VAR_028863

Experimental info

Sequence conflict941T → M in BAG63905. Ref.1
Sequence conflict1641Y → H in BAG65055. Ref.1
Sequence conflict1681H → Q in CAD97790. Ref.4
Sequence conflict2581V → I in CAD97790. Ref.4
Sequence conflict3661L → F in BAG65055. Ref.1

Sequences

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

Last modified April 20, 2010. Version 3.
Checksum: 21FFAC8E243005BA

FASTA68176,219
        10         20         30         40         50         60 
MSNLKMKEAA LIYLDRSGGL QKFIDDCKYY NDSKQSYAVY RFKILINPSD VVELDAELGN 

        70         80         90        100        110        120 
HILHQPLKAA EVFQSVCFIA VKTLSLIGQL QTETQINIVL KLTHLPPLPS YGLDLCEFPL 

       130        140        150        160        170        180 
DYTSQRFYMM QGIVIAMTTI TKYTQGARFL CSDEACPLSK GFQYIRVHVP GATESATIRN 

       190        200        210        220        230        240 
DFLCNLCASS LQEDRKFRVL GDKQIVEIIA TKALRAFQGY SNNQPFRFQS LTIFLRDESV 

       250        260        270        280        290        300 
NKMNIGNEYK IIGIPTCVKT SQTAVCIEAN SITFCNSKVP SGISDNFRCL LSLTSSSCWK 

       310        320        330        340        350        360 
FTAILANIFA SQITPPGTYN LLKLCLLMSL VQTTDRNKEL EDCLDILIIT SDTLLIDRLL 

       370        380        390        400        410        420 
NFSINLVPRG IRHLVSTEIF PTLSRNKYGT GAVSIQAGSA LLAKGGICFI GDLASHKKDK 

       430        440        450        460        470        480 
LEQLQTVLES RSITVYIPGK KFGEDIDQQM TFPVQCSFWS FVDVDSSSRR NAQKINTLIG 

       490        500        510        520        530        540 
QMDCSLIPAN LVEAFGLLIN CNESSPCHPF LPTVQHTLNK AINPEGLFYA ASRQFTTEDF 

       550        560        570        580        590        600 
EKLLAFAKNL NVEFSLEAER MTHGYYLASR RIRTGSVCGS KLSASALKYL VFLSEAHARL 

       610        620        630        640        650        660 
NLRNKVLKED VLIAALLFET SLTLKYGATV FCVAPNAVFP FELYNEEYLE QRDLYLTQCQ 

       670        680 
QQLEQFIATY GPGTTIFSSD E 

« Hide

Isoform 2 [UniParc].

Checksum: 9EECC189AAEE1C48
Show »

FASTA59065,838
Isoform 3 [UniParc].

Checksum: 7654BFE4316C3914
Show »

FASTA43948,761
Isoform 4 [UniParc].

Checksum: C53B8ABF3869E76D
Show »

FASTA61868,919

References

[1]"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] (ISOFORMS 1; 3 AND 4).
Tissue: Testis and Trachea.
[2]"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].
[3]"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).
Tissue: Lung and Testis.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-357.
Tissue: Rectum tumor.
[5]"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-292, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK302672 mRNA. Translation: BAG63905.1.
AK303003 mRNA. Translation: BAG64136.1.
AK304170 mRNA. Translation: BAG65055.1.
AC011031 Genomic DNA. No translation available.
BC034576 mRNA. Translation: AAH34576.2. Different initiation.
BC063108 mRNA. Translation: AAH63108.1. Different initiation.
BX537587 mRNA. Translation: CAD97790.2.
CCDSCCDS47869.1. [Q4G0Z9-2]
CCDS6197.2. [Q4G0Z9-1]
RefSeqNP_001129633.1. NM_001136161.1. [Q4G0Z9-2]
NP_775789.3. NM_173518.4. [Q4G0Z9-1]
XP_005251231.1. XM_005251174.1. [Q4G0Z9-4]
XP_006716495.1. XM_006716432.1. [Q4G0Z9-3]
XP_006716496.1. XM_006716433.1. [Q4G0Z9-3]
UniGeneHs.437006.

3D structure databases

ProteinModelPortalQ4G0Z9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000413632.

PTM databases

PhosphoSiteQ4G0Z9.

Polymorphism databases

DMDM294862519.

Proteomic databases

PaxDbQ4G0Z9.
PRIDEQ4G0Z9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000396592; ENSP00000379837; ENSG00000178460. [Q4G0Z9-2]
ENST00000422365; ENSP00000413632; ENSG00000178460. [Q4G0Z9-1]
ENST00000541540; ENSP00000445629; ENSG00000178460. [Q4G0Z9-4]
GeneID157777.
KEGGhsa:157777.
UCSCuc003xwz.4. human. [Q4G0Z9-1]
uc011lew.2. human. [Q4G0Z9-4]

Organism-specific databases

CTD157777.
GeneCardsGC08P067783.
H-InvDBHIX0007558.
HGNCHGNC:26368. MCMDC2.
HPAHPA026522.
neXtProtNX_Q4G0Z9.
PharmGKBPA142672364.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG316873.
HOGENOMHOG000070159.
HOVERGENHBG081139.
InParanoidQ4G0Z9.
OMAKALHAFQ.
OrthoDBEOG7S7SDD.
PhylomeDBQ4G0Z9.
TreeFamTF332272.

Gene expression databases

ArrayExpressQ4G0Z9.
BgeeQ4G0Z9.
CleanExHS_C8orf45.
GenevestigatorQ4G0Z9.

Family and domain databases

InterProIPR001208. MCM_DNA-dep_ATPase.
[Graphical view]
PfamPF00493. MCM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi157777.
NextBio87554.
PROQ4G0Z9.

Entry information

Entry nameMCMD2_HUMAN
AccessionPrimary (citable) accession number: Q4G0Z9
Secondary accession number(s): B4DYZ3 expand/collapse secondary AC list , B4DZM4, B4E293, Q6P533, Q7Z3P4
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: April 20, 2010
Last modified: July 9, 2014
This is version 71 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

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