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Q4G0Z9

- MCMD2_HUMAN

UniProt

Q4G0Z9 - MCMD2_HUMAN

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Protein

MCM domain-containing protein 2

Gene
MCMDC2, C8orf45
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. ATP binding Source: InterPro
  2. DNA binding Source: InterPro

GO - Biological processi

  1. DNA replication Source: InterPro
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
MCM domain-containing protein 2
Gene namesi
Name:MCMDC2
Synonyms:C8orf45
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:26368. MCMDC2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672364.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 681681MCM domain-containing protein 2PRO_0000255258Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei292 – 2921Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ4G0Z9.
PRIDEiQ4G0Z9.

PTM databases

PhosphoSiteiQ4G0Z9.

Expressioni

Gene expression databases

ArrayExpressiQ4G0Z9.
BgeeiQ4G0Z9.
CleanExiHS_C8orf45.
GenevestigatoriQ4G0Z9.

Organism-specific databases

HPAiHPA026522.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000413632.

Structurei

3D structure databases

ProteinModelPortaliQ4G0Z9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini533 – 62189MCMAdd
BLAST

Sequence similaritiesi

Contains 1 MCM domain.

Phylogenomic databases

eggNOGiNOG316873.
HOGENOMiHOG000070159.
HOVERGENiHBG081139.
InParanoidiQ4G0Z9.
OMAiKALHAFQ.
OrthoDBiEOG7S7SDD.
PhylomeDBiQ4G0Z9.
TreeFamiTF332272.

Family and domain databases

InterProiIPR001208. MCM_DNA-dep_ATPase.
[Graphical view]
PfamiPF00493. MCM. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q4G0Z9-1) [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

MSNLKMKEAA LIYLDRSGGL QKFIDDCKYY NDSKQSYAVY RFKILINPSD    50
VVELDAELGN HILHQPLKAA EVFQSVCFIA VKTLSLIGQL QTETQINIVL 100
KLTHLPPLPS YGLDLCEFPL DYTSQRFYMM QGIVIAMTTI TKYTQGARFL 150
CSDEACPLSK GFQYIRVHVP GATESATIRN DFLCNLCASS LQEDRKFRVL 200
GDKQIVEIIA TKALRAFQGY SNNQPFRFQS LTIFLRDESV NKMNIGNEYK 250
IIGIPTCVKT SQTAVCIEAN SITFCNSKVP SGISDNFRCL LSLTSSSCWK 300
FTAILANIFA SQITPPGTYN LLKLCLLMSL VQTTDRNKEL EDCLDILIIT 350
SDTLLIDRLL NFSINLVPRG IRHLVSTEIF PTLSRNKYGT GAVSIQAGSA 400
LLAKGGICFI GDLASHKKDK LEQLQTVLES RSITVYIPGK KFGEDIDQQM 450
TFPVQCSFWS FVDVDSSSRR NAQKINTLIG QMDCSLIPAN LVEAFGLLIN 500
CNESSPCHPF LPTVQHTLNK AINPEGLFYA ASRQFTTEDF EKLLAFAKNL 550
NVEFSLEAER MTHGYYLASR RIRTGSVCGS KLSASALKYL VFLSEAHARL 600
NLRNKVLKED VLIAALLFET SLTLKYGATV FCVAPNAVFP FELYNEEYLE 650
QRDLYLTQCQ QQLEQFIATY GPGTTIFSSD E 681
Length:681
Mass (Da):76,219
Last modified:April 20, 2010 - v3
Checksum:i21FFAC8E243005BA
GO
Isoform 2 (identifier: Q4G0Z9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     591-681: Missing.

Show »
Length:590
Mass (Da):65,838
Checksum:i9EECC189AAEE1C48
GO
Isoform 3 (identifier: Q4G0Z9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-242: Missing.

Show »
Length:439
Mass (Da):48,761
Checksum:i7654BFE4316C3914
GO
Isoform 4 (identifier: Q4G0Z9-4) [UniParc]FASTAAdd to Basket

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

Show »
Length:618
Mass (Da):68,919
Checksum:iC53B8ABF3869E76D
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371M → K.
Corresponds to variant rs16933088 [ dbSNP | Ensembl ].
VAR_028861
Natural varianti322 – 3221L → V.
Corresponds to variant rs17332410 [ dbSNP | Ensembl ].
VAR_028862
Natural varianti583 – 5831S → A.
Corresponds to variant rs11778562 [ dbSNP | Ensembl ].
VAR_028863

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 242242Missing in isoform 3. VSP_038998Add
BLAST
Alternative sequencei1 – 6363Missing in isoform 4. VSP_038999Add
BLAST
Alternative sequencei64 – 7512HQPLK…EVFQS → MIASTTMVRSAK in isoform 4. VSP_039000Add
BLAST
Alternative sequencei591 – 68191Missing in isoform 2. VSP_039001Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti94 – 941T → M in BAG63905. 1 Publication
Sequence conflicti164 – 1641Y → H in BAG65055. 1 Publication
Sequence conflicti168 – 1681H → Q in CAD97790. 1 Publication
Sequence conflicti258 – 2581V → I in CAD97790. 1 Publication
Sequence conflicti366 – 3661L → F in BAG65055. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS47869.1. [Q4G0Z9-2]
CCDS6197.2. [Q4G0Z9-1]
RefSeqiNP_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]
UniGeneiHs.437006.

Genome annotation databases

EnsembliENST00000396592; ENSP00000379837; ENSG00000178460. [Q4G0Z9-2]
ENST00000422365; ENSP00000413632; ENSG00000178460. [Q4G0Z9-1]
ENST00000541540; ENSP00000445629; ENSG00000178460. [Q4G0Z9-4]
GeneIDi157777.
KEGGihsa:157777.
UCSCiuc003xwz.4. human. [Q4G0Z9-1]
uc011lew.2. human. [Q4G0Z9-4]

Polymorphism databases

DMDMi294862519.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS47869.1. [Q4G0Z9-2 ]
CCDS6197.2. [Q4G0Z9-1 ]
RefSeqi NP_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 ]
UniGenei Hs.437006.

3D structure databases

ProteinModelPortali Q4G0Z9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000413632.

PTM databases

PhosphoSitei Q4G0Z9.

Polymorphism databases

DMDMi 294862519.

Proteomic databases

PaxDbi Q4G0Z9.
PRIDEi Q4G0Z9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000396592 ; ENSP00000379837 ; ENSG00000178460 . [Q4G0Z9-2 ]
ENST00000422365 ; ENSP00000413632 ; ENSG00000178460 . [Q4G0Z9-1 ]
ENST00000541540 ; ENSP00000445629 ; ENSG00000178460 . [Q4G0Z9-4 ]
GeneIDi 157777.
KEGGi hsa:157777.
UCSCi uc003xwz.4. human. [Q4G0Z9-1 ]
uc011lew.2. human. [Q4G0Z9-4 ]

Organism-specific databases

CTDi 157777.
GeneCardsi GC08P067783.
H-InvDB HIX0007558.
HGNCi HGNC:26368. MCMDC2.
HPAi HPA026522.
neXtProti NX_Q4G0Z9.
PharmGKBi PA142672364.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG316873.
HOGENOMi HOG000070159.
HOVERGENi HBG081139.
InParanoidi Q4G0Z9.
OMAi KALHAFQ.
OrthoDBi EOG7S7SDD.
PhylomeDBi Q4G0Z9.
TreeFami TF332272.

Miscellaneous databases

GenomeRNAii 157777.
NextBioi 87554.
PROi Q4G0Z9.

Gene expression databases

ArrayExpressi Q4G0Z9.
Bgeei Q4G0Z9.
CleanExi HS_C8orf45.
Genevestigatori Q4G0Z9.

Family and domain databases

InterProi IPR001208. MCM_DNA-dep_ATPase.
[Graphical view ]
Pfami PF00493. MCM. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-357.
    Tissue: Rectum tumor.
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-292, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiMCMD2_HUMAN
AccessioniPrimary (citable) accession number: Q4G0Z9
Secondary accession number(s): B4DYZ3
, B4DZM4, B4E293, Q6P533, Q7Z3P4
Entry historyi
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 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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