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Protein

DNA helicase MCM9

Gene

MCM9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the MCM8-MCM9 complex, a complex involved in homologous recombination repair following DNA interstrand cross-links and plays a key role during gametogenesis. The MCM8-MCM9 complex probably acts as a hexameric helicase downstream of the Fanconi anemia proteins BRCA2 and RAD51 and is required to process aberrant forks into homologous recombination substrates and to orchestrate homologous recombination with resection, fork stabilization and fork restart.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi352 – 359ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

  • cellular response to DNA damage stimulus Source: UniProtKB
  • DNA replication initiation Source: InterPro
  • double-strand break repair via homologous recombination Source: UniProtKB
  • female gamete generation Source: UniProtKB

Keywordsi

Molecular functionDNA-binding, Helicase, Hydrolase
Biological processDNA damage, DNA repair
LigandATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
DNA helicase MCM9 (EC:3.6.4.12)
Short name:
hMCM9
Alternative name(s):
Mini-chromosome maintenance deficient domain-containing protein 1
Minichromosome maintenance 9
Gene namesi
Name:MCM9
Synonyms:C6orf61, MCMDC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000111877.17
HGNCiHGNC:21484 MCM9
MIMi610098 gene
neXtProtiNX_Q9NXL9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Ovarian dysgenesis 4 (ODG4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.
See also OMIM:616185

Organism-specific databases

DisGeNETi254394
MalaCardsiMCM9
MIMi616185 phenotype
OpenTargetsiENSG00000111877
PharmGKBiPA162395071

Polymorphism and mutation databases

BioMutaiMCM9
DMDMi387912921

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000895131 – 1143DNA helicase MCM9Add BLAST1143

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei762PhosphoserineCombined sources1
Modified residuei802PhosphoserineCombined sources1
Modified residuei1109PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NXL9
MaxQBiQ9NXL9
PaxDbiQ9NXL9
PeptideAtlasiQ9NXL9
PRIDEiQ9NXL9
ProteomicsDBi83112
83113 [Q9NXL9-2]

PTM databases

iPTMnetiQ9NXL9
PhosphoSitePlusiQ9NXL9

Expressioni

Developmental stagei

The expression of isoform L and isoform M is cell cycle regulated: induced in S-phase, decreases through G2/M, and becomes constant through G1.1 Publication

Gene expression databases

BgeeiENSG00000111877
CleanExiHS_MCM9
ExpressionAtlasiQ9NXL9 baseline and differential
GenevisibleiQ9NXL9 HS

Organism-specific databases

HPAiHPA031137

Interactioni

Subunit structurei

Component of the MCM8-MCM9 complex, which forms a hexamer composed of MCM8 and MCM9.1 Publication

Protein-protein interaction databases

BioGridi129033, 37 interactors
IntActiQ9NXL9, 3 interactors
STRINGi9606.ENSP00000314505

Structurei

3D structure databases

ProteinModelPortaliQ9NXL9
SMRiQ9NXL9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini300 – 505MCMAdd BLAST206

Sequence similaritiesi

Belongs to the MCM family.Curated

Phylogenomic databases

eggNOGiKOG0477 Eukaryota
COG1241 LUCA
GeneTreeiENSGT00920000149094
HOGENOMiHOG000007282
HOVERGENiHBG108122
InParanoidiQ9NXL9
KOiK10738
OMAiVMCAPEK
OrthoDBiEOG091G01CK
PhylomeDBiQ9NXL9
TreeFamiTF329421

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR031327 MCM
IPR001208 MCM_dom
IPR033762 MCM_OB
IPR012340 NA-bd_OB-fold
IPR027417 P-loop_NTPase
PANTHERiPTHR11630 PTHR11630, 1 hit
PfamiView protein in Pfam
PF00493 MCM, 1 hit
PF17207 MCM_OB, 1 hit
PRINTSiPR01657 MCMFAMILY
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SM00350 MCM, 1 hit
SUPFAMiSSF50249 SSF50249, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50051 MCM_2, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform L (identifier: Q9NXL9-1) [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

        10         20         30         40         50
MNSDQVTLVG QVFESYVSEY HKNDILLILK ERDEDAHYPV VVNAMTLFET
60 70 80 90 100
NMEIGEYFNM FPSEVLTIFD SALRRSALTI LQSLSQPEAV SMKQNLHARI
110 120 130 140 150
SGLPVCPELV REHIPKTKDV GHFLSVTGTV IRTSLVKVLE FERDYMCNKC
160 170 180 190 200
KHVFVIKADF EQYYTFCRPS SCPSLESCDS SKFTCLSGLS SSPTRCRDYQ
210 220 230 240 250
EIKIQEQVQR LSVGSIPRSM KVILEDDLVD SCKSGDDLTI YGIVMQRWKP
260 270 280 290 300
FQQDVRCEVE IVLKANYIQV NNEQSSGIIM DEEVQKEFED FWEYYKSDPF
310 320 330 340 350
AGRNVILASL CPQVFGMYLV KLAVAMVLAG GIQRTDATGT RVRGESHLLL
360 370 380 390 400
VGDPGTGKSQ FLKYAAKITP RSVLTTGIGS TSAGLTVTAV KDSGEWNLEA
410 420 430 440 450
GALVLADAGL CCIDEFNSLK EHDRTSIHEA MEQQTISVAK AGLVCKLNTR
460 470 480 490 500
TTILAATNPK GQYDPQESVS VNIALGSPLL SRFDLILVLL DTKNEDWDRI
510 520 530 540 550
ISSFILENKG YPSKSEKLWS MEKMKTYFCL IRNLQPTLSD VGNQVLLRYY
560 570 580 590 600
QMQRQSDCRN AARTTIRLLE SLIRLAEAHA RLMFRDTVTL EDAITVVSVM
610 620 630 640 650
ESSMQGGALL GGVNALHTSF PENPGEQYQR QCELILEKLE LQSLLSEELR
660 670 680 690 700
RLERLQNQSV HQSQPRVLEV ETTPGSLRNG PGEESNFRTS SQQEINYSTH
710 720 730 740 750
IFSPGGSPEG SPVLDPPPHL EPNRSTSRKH SAQHKNNRDD SLDWFDFMAT
760 770 780 790 800
HQSEPKNTVV VSPHPKTSGE NMASKISNST SQGKEKSEPG QRSKVDIGLL
810 820 830 840 850
PSPGETGVPW RADNVESNKK KRLALDSEAA VSADKPDSVL THHVPRNLQK
860 870 880 890 900
LCKERAQKLC RNSTRVPAQC TVPSHPQSTP VHSPDRMLDS PKRKRPKSLA
910 920 930 940 950
QVEEPAIENV KPPGSPVAKL AKFTFKQKSK LIHSFEDHSH VSPGATKIAV
960 970 980 990 1000
HSPKISQRRT RRDAALPVKR PGKLTSTPGN QISSQPQGET KEVSQQPPEK
1010 1020 1030 1040 1050
HGPREKVMCA PEKRIIQPEL ELGNETGCAH LTCEGDKKEE VSGSNKSGKV
1060 1070 1080 1090 1100
HACTLARLAN FCFTPPSESK SKSPPPERKN RGERGPSSPP TTTAPMRVSK
1110 1120 1130 1140
RKSFQLRGST EKLIVSKESL FTLPELGDEA FDCDWDEEMR KKS
Note: Most abundant isoform.
Length:1,143
Mass (Da):127,313
Last modified:May 16, 2012 - v4
Checksum:i3C35C8B3476A470F
GO
Isoform M (identifier: Q9NXL9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     606-648: GGALLGGVNA...LELQSLLSEE → VTESECAPIP...QNFITAGNQL
     649-1143: Missing.

Show »
Length:648
Mass (Da):72,737
Checksum:i344DC7E1E4BB7C40
GO
Isoform S (identifier: Q9NXL9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     383-391: AGLTVTAVK → AGIVCDNFK
     392-1143: Missing.

Show »
Length:391
Mass (Da):43,983
Checksum:i1AB5A6CFBCF4E40C
GO
Isoform 4 (identifier: Q9NXL9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-381: Missing.
     382-383: SA → MS

Note: No experimental confirmation available.
Show »
Length:762
Mass (Da):84,442
Checksum:i2C3190DA9ACCA977
GO

Sequence cautioni

The sequence BAA90991 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG61142 differs from that shown. Reason: Erroneous termination at position 1070. Translated as Lys.Curated
The sequence CAX30832 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti433Q → R in BAG61142 (PubMed:14702039).Curated1
Sequence conflicti558C → S in BAG61142 (PubMed:14702039).Curated1
Sequence conflicti1063F → V in BAA90991 (PubMed:14702039).Curated1
Sequence conflicti1136D → G in BAA90991 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0441801 – 381Missing in isoform 4. 1 PublicationAdd BLAST381
Alternative sequenceiVSP_044181382 – 383SA → MS in isoform 4. 1 Publication2
Alternative sequenceiVSP_028013383 – 391AGLTVTAVK → AGIVCDNFK in isoform S. 1 Publication9
Alternative sequenceiVSP_028014392 – 1143Missing in isoform S. 1 PublicationAdd BLAST752
Alternative sequenceiVSP_047462606 – 648GGALL…LLSEE → VTESECAPIPTTGIGGRDYS RILEKWSRGRIKLQNFITAG NQL in isoform M. CuratedAdd BLAST43
Alternative sequenceiVSP_047463649 – 1143Missing in isoform M. CuratedAdd BLAST495

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK299076 mRNA Translation: BAG61142.1 Sequence problems.
AK000177 mRNA Translation: BAA90991.1 Different initiation.
AL132874, AL359634 Genomic DNA Translation: CAX30832.1 Sequence problems.
BC031658 mRNA Translation: AAH31658.1
BN000882 mRNA Translation: CAJ70648.1
CCDSiCCDS5121.1 [Q9NXL9-3]
CCDS56447.1 [Q9NXL9-1]
RefSeqiNP_060166.2, NM_017696.2 [Q9NXL9-1]
NP_694987.1, NM_153255.4 [Q9NXL9-3]
UniGeneiHs.279008
Hs.733116
Hs.736853

Genome annotation databases

EnsembliENST00000316068; ENSP00000312870; ENSG00000111877 [Q9NXL9-3]
ENST00000316316; ENSP00000314505; ENSG00000111877 [Q9NXL9-1]
ENST00000619706; ENSP00000480469; ENSG00000111877 [Q9NXL9-1]
GeneIDi254394
KEGGihsa:254394
UCSCiuc003pyh.4 human [Q9NXL9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiMCM9_HUMAN
AccessioniPrimary (citable) accession number: Q9NXL9
Secondary accession number(s): B4DR30
, B9DI77, Q2KHJ0, Q8N5S5, Q9HCV5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: May 16, 2012
Last modified: July 18, 2018
This is version 128 of the entry and version 4 of the sequence. See 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 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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