Q9NXL9 (MCM9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
DNA helicase MCM9
Short name=hMCM9
EC=3.6.4.12

Alternative name(s):
Mini-chromosome maintenance deficient domain-containing protein 1
Minichromosome maintenance 9

Gene names

Name:	MCM9
Synonyms:	C6orf61, MCMDC1

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	1143 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.7
Catalytic activity	ATP + H2O = ADP + phosphate.
Subunit structure	Component of the MCM8-MCM9 complex, which forms a hexamer composed of MCM8 and MCM9. Ref.7
Subcellular location	Nucleus By similarity. Note: Localizes to nuclear foci and colocalizes with RAD51 By similarity.
Sequence similarities	Belongs to the MCM family. Contains 1 MCM domain.
Sequence caution	The sequence BAA90991.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAG61142.1 differs from that shown. Reason: Erroneous termination at position 1070. Translated as Lys. The sequence CAX30832.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Ligand	ATP-binding DNA-binding Nucleotide-binding
Molecular function	Helicase Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA replication Inferred from electronic annotation. Source: InterPro double-strand break repair via homologous recombination Inferred from direct assay Ref.7. Source: UniProtKB female gamete generation Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	MCM8-MCM9 complex Inferred from direct assay Ref.7. Source: UniProtKB nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW DNA binding Inferred from electronic annotation. Source: UniProtKB-KW helicase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NXL9-1)

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: Q9NXL9-2)

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

Isoform 3 (identifier: Q9NXL9-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1143	1143	DNA helicase MCM9		PRO_0000089513
Regions
	Domain	300 – 505	206	MCM
	Nucleotide binding	352 – 359	8	ATP Potential
Amino acid modifications
	Modified residue	762	1	Phosphoserine Ref.6
Natural variations
	Alternative sequence	1 – 381	381	Missing in isoform 3.		VSP_044180
	Alternative sequence	382 – 383	2	SA → MS in isoform 3.		VSP_044181
	Alternative sequence	383 – 391	9	AGLTVTAVK → AGIVCDNFK in isoform 2.		VSP_028013
	Alternative sequence	392 – 1143	752	Missing in isoform 2.		VSP_028014
Experimental info
	Sequence conflict	433	1	Q → R in BAG61142. Ref.1
	Sequence conflict	558	1	C → S in BAG61142. Ref.1
	Sequence conflict	1063	1	F → V in BAA90991. Ref.1
	Sequence conflict	1136	1	D → G in BAA90991. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 16, 2012. Version 4. Checksum: 3C35C8B3476A470F	FASTA	1,143	127,313
	10 20 30 40 50 60 MNSDQVTLVG QVFESYVSEY HKNDILLILK ERDEDAHYPV VVNAMTLFET NMEIGEYFNM 70 80 90 100 110 120 FPSEVLTIFD SALRRSALTI LQSLSQPEAV SMKQNLHARI SGLPVCPELV REHIPKTKDV 130 140 150 160 170 180 GHFLSVTGTV IRTSLVKVLE FERDYMCNKC KHVFVIKADF EQYYTFCRPS SCPSLESCDS 190 200 210 220 230 240 SKFTCLSGLS SSPTRCRDYQ EIKIQEQVQR LSVGSIPRSM KVILEDDLVD SCKSGDDLTI 250 260 270 280 290 300 YGIVMQRWKP FQQDVRCEVE IVLKANYIQV NNEQSSGIIM DEEVQKEFED FWEYYKSDPF 310 320 330 340 350 360 AGRNVILASL CPQVFGMYLV KLAVAMVLAG GIQRTDATGT RVRGESHLLL VGDPGTGKSQ 370 380 390 400 410 420 FLKYAAKITP RSVLTTGIGS TSAGLTVTAV KDSGEWNLEA GALVLADAGL CCIDEFNSLK 430 440 450 460 470 480 EHDRTSIHEA MEQQTISVAK AGLVCKLNTR TTILAATNPK GQYDPQESVS VNIALGSPLL 490 500 510 520 530 540 SRFDLILVLL DTKNEDWDRI ISSFILENKG YPSKSEKLWS MEKMKTYFCL IRNLQPTLSD 550 560 570 580 590 600 VGNQVLLRYY QMQRQSDCRN AARTTIRLLE SLIRLAEAHA RLMFRDTVTL EDAITVVSVM 610 620 630 640 650 660 ESSMQGGALL GGVNALHTSF PENPGEQYQR QCELILEKLE LQSLLSEELR RLERLQNQSV 670 680 690 700 710 720 HQSQPRVLEV ETTPGSLRNG PGEESNFRTS SQQEINYSTH IFSPGGSPEG SPVLDPPPHL 730 740 750 760 770 780 EPNRSTSRKH SAQHKNNRDD SLDWFDFMAT HQSEPKNTVV VSPHPKTSGE NMASKISNST 790 800 810 820 830 840 SQGKEKSEPG QRSKVDIGLL PSPGETGVPW RADNVESNKK KRLALDSEAA VSADKPDSVL 850 860 870 880 890 900 THHVPRNLQK LCKERAQKLC RNSTRVPAQC TVPSHPQSTP VHSPDRMLDS PKRKRPKSLA 910 920 930 940 950 960 QVEEPAIENV KPPGSPVAKL AKFTFKQKSK LIHSFEDHSH VSPGATKIAV HSPKISQRRT 970 980 990 1000 1010 1020 RRDAALPVKR PGKLTSTPGN QISSQPQGET KEVSQQPPEK HGPREKVMCA PEKRIIQPEL 1030 1040 1050 1060 1070 1080 ELGNETGCAH LTCEGDKKEE VSGSNKSGKV HACTLARLAN FCFTPPSESK SKSPPPERKN 1090 1100 1110 1120 1130 1140 RGERGPSSPP TTTAPMRVSK RKSFQLRGST EKLIVSKESL FTLPELGDEA FDCDWDEEMR KKS
	Isoform 2 [UniParc]. Checksum: 1AB5A6CFBCF4E40C	FASTA	391	43,983
	10 20 30 40 50 60 MNSDQVTLVG QVFESYVSEY HKNDILLILK ERDEDAHYPV VVNAMTLFET NMEIGEYFNM 70 80 90 100 110 120 FPSEVLTIFD SALRRSALTI LQSLSQPEAV SMKQNLHARI SGLPVCPELV REHIPKTKDV 130 140 150 160 170 180 GHFLSVTGTV IRTSLVKVLE FERDYMCNKC KHVFVIKADF EQYYTFCRPS SCPSLESCDS 190 200 210 220 230 240 SKFTCLSGLS SSPTRCRDYQ EIKIQEQVQR LSVGSIPRSM KVILEDDLVD SCKSGDDLTI 250 260 270 280 290 300 YGIVMQRWKP FQQDVRCEVE IVLKANYIQV NNEQSSGIIM DEEVQKEFED FWEYYKSDPF 310 320 330 340 350 360 AGRNVILASL CPQVFGMYLV KLAVAMVLAG GIQRTDATGT RVRGESHLLL VGDPGTGKSQ 370 380 390 FLKYAAKITP RSVLTTGIGS TSAGIVCDNF K
	Isoform 3 [UniParc]. Checksum: 2C3190DA9ACCA977	FASTA	762	84,442
	10 20 30 40 50 60 MSGLTVTAVK DSGEWNLEAG ALVLADAGLC CIDEFNSLKE HDRTSIHEAM EQQTISVAKA 70 80 90 100 110 120 GLVCKLNTRT TILAATNPKG QYDPQESVSV NIALGSPLLS RFDLILVLLD TKNEDWDRII 130 140 150 160 170 180 SSFILENKGY PSKSEKLWSM EKMKTYFCLI RNLQPTLSDV GNQVLLRYYQ MQRQSDCRNA 190 200 210 220 230 240 ARTTIRLLES LIRLAEAHAR LMFRDTVTLE DAITVVSVME SSMQGGALLG GVNALHTSFP 250 260 270 280 290 300 ENPGEQYQRQ CELILEKLEL QSLLSEELRR LERLQNQSVH QSQPRVLEVE TTPGSLRNGP 310 320 330 340 350 360 GEESNFRTSS QQEINYSTHI FSPGGSPEGS PVLDPPPHLE PNRSTSRKHS AQHKNNRDDS 370 380 390 400 410 420 LDWFDFMATH QSEPKNTVVV SPHPKTSGEN MASKISNSTS QGKEKSEPGQ RSKVDIGLLP 430 440 450 460 470 480 SPGETGVPWR ADNVESNKKK RLALDSEAAV SADKPDSVLT HHVPRNLQKL CKERAQKLCR 490 500 510 520 530 540 NSTRVPAQCT VPSHPQSTPV HSPDRMLDSP KRKRPKSLAQ VEEPAIENVK PPGSPVAKLA 550 560 570 580 590 600 KFTFKQKSKL IHSFEDHSHV SPGATKIAVH SPKISQRRTR RDAALPVKRP GKLTSTPGNQ 610 620 630 640 650 660 ISSQPQGETK EVSQQPPEKH GPREKVMCAP EKRIIQPELE LGNETGCAHL TCEGDKKEEV 670 680 690 700 710 720 SGSNKSGKVH ACTLARLANF CFTPPSESKS KSPPPERKNR GERGPSSPPT TTAPMRVSKR 730 740 750 760 KSFQLRGSTE KLIVSKESLF TLPELGDEAF DCDWDEEMRK KS

References

	« Hide 'large scale' referencesShow 'large scale' 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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 865-1143 (ISOFORM 1). Tissue: Teratocarcinoma.
[2]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [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: Brain.
[4]	"Identification of full genes and proteins of MCM9, a novel, vertebrate-specific member of the MCM2-8 protein family." Lutzmann M., Maiorano D., Mechali M. Gene 362:51-56(2005) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION.
[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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[6]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-762, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Mcm8 and Mcm9 form a complex that functions in homologous recombination repair induced by DNA interstrand crosslinks." Nishimura K., Ishiai M., Horikawa K., Fukagawa T., Takata M., Takisawa H., Kanemaki M.T. Mol. Cell 47:511-522(2012) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, IDENTIFICATION IN THE MCM8-MCM9 COMPLEX.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00014977. IPI00855969.
RefSeq	NP_060166.2. NM_017696.2. NP_694987.1. NM_153255.4.
UniGene	Hs.279008. Hs.733116. Hs.736853.
3D structure databases
ProteinModelPortal	Q9NXL9.
SMR	Q9NXL9. Positions 82-271, 347-605.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NXL9. 1 interaction.
STRING	9606.ENSP00000312870.
PTM databases
PhosphoSite	Q9NXL9.
Polymorphism databases
DMDM	158523295.
Proteomic databases
PaxDb	Q9NXL9.
PRIDE	Q9NXL9.
Protocols and materials databases
DNASU	254394.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000316068; ENSP00000312870; ENSG00000111877. ENST00000316316; ENSP00000314505; ENSG00000111877.
GeneID	254394.
KEGG	hsa:254394.
UCSC	uc003pyh.3. human. uc021zeh.1. human.
Organism-specific databases
CTD	254394.
GeneCards	GC06M119136.
HGNC	HGNC:21484. MCM9.
HPA	HPA031137.
MIM	610098. gene.
neXtProt	NX_Q9NXL9.
PharmGKB	PA162395071.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1241.
HOGENOM	HOG000169812.
HOVERGEN	HBG108122.
InParanoid	Q9NXL9.
KO	K10738.
OMA	GNQTGHS.
OrthoDB	EOG437RD4.
Gene expression databases
ArrayExpress	Q9NXL9.
Bgee	Q9NXL9.
CleanEx	HS_MCM9.
Genevestigator	Q9NXL9.
GermOnline	ENSG00000178346. Homo sapiens.
Family and domain databases
Gene3D	2.40.50.140. 2 hits.
InterPro	IPR003593. AAA+_ATPase. IPR001208. MCM_DNA-dep_ATPase. IPR012340. NA-bd_OB-fold. [Graphical view]
Pfam	PF00493. MCM. 1 hit. [Graphical view]
PRINTS	PR01657. MCMFAMILY.
SMART	SM00382. AAA. 1 hit. SM00350. MCM. 1 hit. [Graphical view]
SUPFAM	SSF50249. Nucleic_acid_OB. 1 hit.
PROSITE	PS00847. MCM_1. False negative. PS50051. MCM_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	254394.
NextBio	92339.
SOURCE	Search...

Entry information

Entry name

MCM9_HUMAN

Accession

Primary (citable) accession number: Q9NXL9
Secondary accession number(s): B4DR30 , B9DI77, Q2KHJ0, Q8N5S5, Q9HCV5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 5, 2005
Last sequence update:	May 16, 2012
Last modified:	May 1, 2013
This is version 83 of the entry and version 4 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.