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MCM9 minichromosome maintenance 9 homologous recombination repair factor [ Homo sapiens (human) ]

Gene ID: 254394, updated on 4-Jan-2025

Summary

Official Symbol
MCM9provided by HGNC
Official Full Name
minichromosome maintenance 9 homologous recombination repair factorprovided by HGNC
Primary source
HGNC:HGNC:21484
See related
Ensembl:ENSG00000111877 MIM:610098; AllianceGenome:HGNC:21484
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ODG4; MCMDC1; C6orf61; dJ329L24.1; dJ329L24.3
Summary
The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]
Expression
Ubiquitous expression in thyroid (RPKM 3.1), lymph node (RPKM 3.0) and 25 other tissues See more
Orthologs
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Genomic context

See MCM9 in Genome Data Viewer
Location:
6q22.31
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (118813455..118935159, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (119999276..120121020, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (119134618..119256324, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene centrosomal protein 85 like Neighboring gene uncharacterized LOC124901388 Neighboring gene Sharpr-MPRA regulatory region 6198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25013 Neighboring gene selenoprotein K pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17507 Neighboring gene uncharacterized LOC124901389 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17506 Neighboring gene anti-silencing function 1A histone chaperone Neighboring gene family with sequence similarity 184 member A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:119361669-119362560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17508 Neighboring gene MPRA-validated peak6067 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr6:119411357-119411858 Neighboring gene microRNA 548b Neighboring gene Sharpr-MPRA regulatory region 12550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17509 Neighboring gene mannosidase alpha class 1A member 1 Neighboring gene ribosomal protein L13a pseudogene 15

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
46,XX ovarian dysgenesis-short stature syndrome
MedGen: C4015409 OMIM: 616185 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ13942, FLJ20170, FLJ56845, MGC35304

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding  
enables ATP hydrolysis activity  
enables ATP-dependent H2AZ histone chaperone activity  
enables ATP-dependent H3-H4 histone complex chaperone activity  
enables DNA clamp loader activity  
enables DNA helicase activity PubMed 
enables MutLbeta complex binding PubMed 
enables MutSalpha complex binding PubMed 
enables MutSbeta complex binding PubMed 
enables chromatin binding PubMed 
enables chromatin extrusion motor activity  
enables cohesin loader activity  
enables double-stranded DNA helicase activity  
enables enzyme binding PubMed 
enables forked DNA-dependent helicase activity  
enables four-way junction helicase activity  
enables protein binding PubMed 
enables protein-containing complex binding PubMed 
enables single-stranded 3'-5' DNA helicase activity  
enables single-stranded DNA binding  
contributes_to single-stranded DNA helicase activity  
Process Evidence Code Pubs
involved_in DNA damage response PubMed 
involved_in DNA duplex unwinding PubMed 
involved_in DNA duplex unwinding PubMed 
NOT involved_in DNA replication PubMed 
involved_in chromatin looping  
involved_in chromatin remodeling  
involved_in double-strand break repair via homologous recombination  
involved_in double-strand break repair via homologous recombination PubMed 
involved_in double-strand break repair via homologous recombination PubMed 
involved_in double-strand break repair via homologous recombination PubMed 
involved_in female gamete generation  
involved_in mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication PubMed 
involved_in mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication PubMed 
involved_in protein localization to chromatin PubMed 
involved_in recombinational interstrand cross-link repair PubMed 
Component Evidence Code Pubs
part_of MCM complex  
part_of MCM8-MCM9 complex PubMed 
part_of MCM8-MCM9 complex PubMed 
located_in chromosome  
is_active_in nucleus  
located_in nucleus PubMed 

General protein information

Preferred Names
DNA helicase MCM9
Names
DNA replication licensing factor MCM9
mini-chromosome maintenance deficient domain-containing protein 1
minichromosome maintenance complex component 9
NP_001365285.1
NP_001365286.1
NP_001365287.1
NP_001365288.1
NP_001365289.1
NP_001365290.1
NP_001365291.1
NP_001365292.1
NP_001365293.1
NP_001365294.1
NP_001365295.1
NP_001365296.1
NP_001365297.1
NP_001365298.1
NP_001365299.1
NP_001365300.1
NP_001365301.1
NP_060166.2
NP_694987.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_041822.1 RefSeqGene

    Range
    5004..126708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001378356.1NP_001365285.1  DNA helicase MCM9 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1 and 4, encodes isoform 1.
    Source sequence(s)
    AL132874, AL359634
    Consensus CDS
    CCDS56447.1
    UniProtKB/Swiss-Prot
    B4DR30, B9DI77, Q2KHJ0, Q8N5S5, Q9HCV5, Q9NXL9
    Related
    ENSP00000314505.5, ENST00000316316.10
    Conserved Domains (3) summary
    PTZ00449
    Location:7511113
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    cd17760
    Location:305603
    MCM9; DNA helicase Mcm9
    pfam17207
    Location:116243
    MCM_OB; MCM OB domain
  2. NM_001378357.1NP_001365286.1  DNA helicase MCM9 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1 and 3, encodes isoform 1.
    Source sequence(s)
    AL132874, AL359634
    Consensus CDS
    CCDS56447.1
    UniProtKB/Swiss-Prot
    B4DR30, B9DI77, Q2KHJ0, Q8N5S5, Q9HCV5, Q9NXL9
    Conserved Domains (3) summary
    PTZ00449
    Location:7511113
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    cd17760
    Location:305603
    MCM9; DNA helicase Mcm9
    pfam17207
    Location:116243
    MCM_OB; MCM OB domain
  3. NM_001378358.1NP_001365287.1  DNA helicase MCM9 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variant 2, encodes isoform 2.
    Source sequence(s)
    AL132874
    Consensus CDS
    CCDS5121.1
    UniProtKB/TrEMBL
    A0A0S2Z662, B3KV41
    Conserved Domains (1) summary
    COG1241
    Location:10385
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
  4. NM_001378359.1NP_001365288.1  DNA helicase MCM9 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 7, encodes isoform 3.
    Source sequence(s)
    AL132874, AL359634
    Conserved Domains (2) summary
    cd17760
    Location:305603
    MCM9; DNA helicase Mcm9
    pfam17207
    Location:116243
    MCM_OB; MCM OB domain
  5. NM_001378360.1NP_001365289.1  DNA helicase MCM9 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 6, encodes isoform 3.
    Source sequence(s)
    AL132874, AL359634
    Conserved Domains (2) summary
    cd17760
    Location:305603
    MCM9; DNA helicase Mcm9
    pfam17207
    Location:116243
    MCM_OB; MCM OB domain
  6. NM_001378361.1NP_001365290.1  DNA helicase MCM9 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 9 and 10, encodes isoform 4.
    Source sequence(s)
    AL132874
    Conserved Domains (1) summary
    COG1241
    Location:34319
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
  7. NM_001378362.1NP_001365291.1  DNA helicase MCM9 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 8 and 10, encodes isoform 4.
    Source sequence(s)
    AL132874
    Conserved Domains (1) summary
    COG1241
    Location:34319
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
  8. NM_001378363.1NP_001365292.1  DNA helicase MCM9 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 8 and 9, encodes isoform 4.
    Source sequence(s)
    AL132874
    Conserved Domains (1) summary
    COG1241
    Location:34319
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
  9. NM_001378364.1NP_001365293.1  DNA helicase MCM9 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL132874, AL359634
    Conserved Domains (3) summary
    PTZ00449
    Location:6831045
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    COG1241
    Location:10511
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
    cl28901
    Location:305535
    MCM; MCM helicase family
  10. NM_001378365.1NP_001365294.1  DNA helicase MCM9 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL132874, FP885910
    Conserved Domains (2) summary
    PHA03307
    Location:365631
    PHA03307; transcriptional regulator ICP4; Provisional
    COG1241
    Location:10384
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
  11. NM_001378366.1NP_001365295.1  DNA helicase MCM9 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL132874, AL359634
    Conserved Domains (2) summary
    COG1241
    Location:10563
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
    cd17760
    Location:302561
    MCM9; DNA helicase Mcm9
  12. NM_001378367.1NP_001365296.1  DNA helicase MCM9 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL132874, AL359634
    Conserved Domains (2) summary
    cd17760
    Location:239537
    MCM9; DNA helicase Mcm9
    pfam17207
    Location:50177
    MCM_OB; MCM OB domain
  13. NM_001378368.1NP_001365297.1  DNA helicase MCM9 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL132874
    UniProtKB/TrEMBL
    B3KV41
    Conserved Domains (1) summary
    COG1241
    Location:10343
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
  14. NM_001378369.1NP_001365298.1  DNA helicase MCM9 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL132874
    Conserved Domains (1) summary
    COG1241
    Location:10286
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
  15. NM_001378370.1NP_001365299.1  DNA helicase MCM9 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL132874
    Conserved Domains (1) summary
    COG1241
    Location:34277
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
  16. NM_001378371.1NP_001365300.1  DNA helicase MCM9 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL132874
    Conserved Domains (1) summary
    COG1241
    Location:10233
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
  17. NM_001378372.1NP_001365301.1  DNA helicase MCM9 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL132874
    Conserved Domains (1) summary
    COG1241
    Location:34220
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
  18. NM_017696.3NP_060166.2  DNA helicase MCM9 isoform 1

    See identical proteins and their annotated locations for NP_060166.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 3, and 4 all encode the same isoform (1).
    Source sequence(s)
    AL132874, AL359634
    Consensus CDS
    CCDS56447.1
    UniProtKB/Swiss-Prot
    B4DR30, B9DI77, Q2KHJ0, Q8N5S5, Q9HCV5, Q9NXL9
    Related
    ENSP00000480469.1, ENST00000619706.5
    Conserved Domains (3) summary
    PTZ00449
    Location:7511113
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    cd17760
    Location:305603
    MCM9; DNA helicase Mcm9
    pfam17207
    Location:116243
    MCM_OB; MCM OB domain
  19. NM_153255.5NP_694987.1  DNA helicase MCM9 isoform 2

    See identical proteins and their annotated locations for NP_694987.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate 3' terminal exon and lacks 6 exons in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 2 and 5 both encode the same isoform (2).
    Source sequence(s)
    AL132874
    Consensus CDS
    CCDS5121.1
    UniProtKB/TrEMBL
    A0A0S2Z662, B3KV41
    Related
    ENSP00000312870.3, ENST00000316068.7
    Conserved Domains (1) summary
    COG1241
    Location:10385
    Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]

RNA

  1. NR_165493.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL132874, AL359634
  2. NR_165494.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL132874

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    118813455..118935159 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    119999276..120121020 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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