Q4G0Z9 (MCMD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
MCM domain-containing protein 2

Gene names

Name:	MCMDC2
Synonyms:	C8orf45

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	681 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA replication Inferred from electronic annotation. Source: InterPro
Molecular_function	ATP 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 681	681	MCM domain-containing protein 2		PRO_0000255258
Regions
	Domain	533 – 621	89	MCM
Amino acid modifications
	Modified residue	292	1	Phosphoserine Ref.5
Natural variations
	Alternative sequence	1 – 242	242	Missing in isoform 3.		VSP_038998
	Alternative sequence	1 – 63	63	Missing in isoform 4.		VSP_038999
	Alternative sequence	64 – 75	12	HQPLK…EVFQS → MIASTTMVRSAK in isoform 4.		VSP_039000
	Alternative sequence	591 – 681	91	Missing in isoform 2.		VSP_039001
	Natural variant	137	1	M → K. Corresponds to variant rs16933088 [ dbSNP | Ensembl ].		VAR_028861
	Natural variant	322	1	L → V. Corresponds to variant rs17332410 [ dbSNP | Ensembl ].		VAR_028862
	Natural variant	583	1	S → A. Corresponds to variant rs11778562 [ dbSNP | Ensembl ].		VAR_028863
Experimental info
	Sequence conflict	94	1	T → M in BAG63905. Ref.1
	Sequence conflict	164	1	Y → H in BAG65055. Ref.1
	Sequence conflict	168	1	H → Q in CAD97790. Ref.4
	Sequence conflict	258	1	V → I in CAD97790. Ref.4
	Sequence conflict	366	1	L → F in BAG65055. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 20, 2010. Version 3. Checksum: 21FFAC8E243005BA	FASTA	681	76,219
	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
	Isoform 2 [UniParc]. Checksum: 9EECC189AAEE1C48	FASTA	590	65,838
	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 EKLLAFAKNL NVEFSLEAER MTHGYYLASR RIRTGSVCGS KLSASALKYL
	Isoform 3 [UniParc]. Checksum: 7654BFE4316C3914	FASTA	439	48,761
	10 20 30 40 50 60 MNIGNEYKII GIPTCVKTSQ TAVCIEANSI TFCNSKVPSG ISDNFRCLLS LTSSSCWKFT 70 80 90 100 110 120 AILANIFASQ ITPPGTYNLL KLCLLMSLVQ TTDRNKELED CLDILIITSD TLLIDRLLNF 130 140 150 160 170 180 SINLVPRGIR HLVSTEIFPT LSRNKYGTGA VSIQAGSALL AKGGICFIGD LASHKKDKLE 190 200 210 220 230 240 QLQTVLESRS ITVYIPGKKF GEDIDQQMTF PVQCSFWSFV DVDSSSRRNA QKINTLIGQM 250 260 270 280 290 300 DCSLIPANLV EAFGLLINCN ESSPCHPFLP TVQHTLNKAI NPEGLFYAAS RQFTTEDFEK 310 320 330 340 350 360 LLAFAKNLNV EFSLEAERMT HGYYLASRRI RTGSVCGSKL SASALKYLVF LSEAHARLNL 370 380 390 400 410 420 RNKVLKEDVL IAALLFETSL TLKYGATVFC VAPNAVFPFE LYNEEYLEQR DLYLTQCQQQ 430 LEQFIATYGP GTTIFSSDE
	Isoform 4 [UniParc]. Checksum: C53B8ABF3869E76D	FASTA	618	68,919
	10 20 30 40 50 60 MIASTTMVRS AKVCFIAVKT LSLIGQLQTE TQINIVLKLT HLPPLPSYGL DLCEFPLDYT 70 80 90 100 110 120 SQRFYMMQGI VIAMTTITKY TQGARFLCSD EACPLSKGFQ YIRVHVPGAT ESATIRNDFL 130 140 150 160 170 180 CNLCASSLQE DRKFRVLGDK QIVEIIATKA LRAFQGYSNN QPFRFQSLTI FLRDESVNKM 190 200 210 220 230 240 NIGNEYKIIG IPTCVKTSQT AVCIEANSIT FCNSKVPSGI SDNFRCLLSL TSSSCWKFTA 250 260 270 280 290 300 ILANIFASQI TPPGTYNLLK LCLLMSLVQT TDRNKELEDC LDILIITSDT LLIDRLLNFS 310 320 330 340 350 360 INLVPRGIRH LVSTEIFPTL SRNKYGTGAV SIQAGSALLA KGGICFIGDL ASHKKDKLEQ 370 380 390 400 410 420 LQTVLESRSI TVYIPGKKFG EDIDQQMTFP VQCSFWSFVD VDSSSRRNAQ KINTLIGQMD 430 440 450 460 470 480 CSLIPANLVE AFGLLINCNE SSPCHPFLPT VQHTLNKAIN PEGLFYAASR QFTTEDFEKL 490 500 510 520 530 540 LAFAKNLNVE FSLEAERMTH GYYLASRRIR TGSVCGSKLS ASALKYLVFL SEAHARLNLR 550 560 570 580 590 600 NKVLKEDVLI AALLFETSLT LKYGATVFCV APNAVFPFEL YNEEYLEQRD LYLTQCQQQL 610 EQFIATYGPG TTIFSSDE

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. , 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. , 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, MASS SPECTROMETRY. 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.
IPI	IPI00176216. IPI00914651. IPI00956193. IPI00956236.
RefSeq	NP_001129633.1. NM_001136161.1. NP_775789.3. NM_173518.4.
UniGene	Hs.437006.
3D structure databases
ProteinModelPortal	Q4G0Z9.
ModBase	Search...
PTM databases
PhosphoSite	Q4G0Z9.
Polymorphism databases
DMDM	294862519.
Proteomic databases
PaxDb	Q4G0Z9.
PRIDE	Q4G0Z9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000396592; ENSP00000379837; ENSG00000178460. ENST00000422365; ENSP00000413632; ENSG00000178460. ENST00000541540; ENSP00000445629; ENSG00000178460.
GeneID	157777.
KEGG	hsa:157777.
UCSC	uc003xwv.3. human. uc011lew.2. human.
Organism-specific databases
CTD	157777.
GeneCards	GC08P067783.
H-InvDB	HIX0007558.
HGNC	HGNC:26368. MCMDC2.
HPA	HPA026522.
neXtProt	NX_Q4G0Z9.
PharmGKB	PA142672364.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG316873.
HOGENOM	HOG000070159.
HOVERGEN	HBG081139.
InParanoid	Q4G0Z9.
OMA	QFIATYG.
OrthoDB	EOG47M1XD.
Gene expression databases
ArrayExpress	Q4G0Z9.
Bgee	Q4G0Z9.
CleanEx	HS_C8orf45.
Genevestigator	Q4G0Z9.
GermOnline	ENSG00000178460. Homo sapiens.
Family and domain databases
InterPro	IPR001208. MCM_DNA-dep_ATPase. [Graphical view]
Pfam	PF00493. MCM. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	157777.
NextBio	87554.

Entry information

Entry name

MCMD2_HUMAN

Accession

Primary (citable) accession number: Q4G0Z9
Secondary accession number(s): B4DYZ3 , B4DZM4, B4E293, Q6P533, Q7Z3P4

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	April 20, 2010
Last modified:	March 6, 2013
This is version 61 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.