• Gene id: 6240

Gene Summary

• Gene Symbol: RRM1   Gene   UCSC   Ensembl
• Aliases: R1, RIR1, RR1
• Gene name: ribonucleotide reductase catalytic subunit M1
• Alternate names: ribonucleoside-diphosphate reductase large subunit, ribonucleoside-diphosphate reductase subunit M1, ribonucleotide reductase M1 polypeptide, ribonucleotide reductase, R1 subunit,
• Gene location: 11p15.4 (4094684: 4138931)     Exons: 20     NC_000011.10
• Gene summary(Entrez): This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of
• OMIM: 180410

Protein Summary

• Protein general information: P23921  
  • Name: Ribonucleoside diphosphate reductase large subunit (EC 1.17.4.1) (Ribonucleoside diphosphate reductase subunit M1) (Ribonucleotide reductase large subunit)
  • Length: 792  
  • Mass: 90070
• Sequence:

  MHVIKRDGRQERVMFDKITSRIQKLCYGLNMDFVDPAQITMKVIQGLYSGVTTVELDTLAAETAATLTTKHPDYA
  ILAARIAVSNLHKETKKVFSDVMEDLYNYINPHNGKHSPMVAKSTLDIVLANKDRLNSAIIYDRDFSYNYFGFKT
  LERSYLLKINGKVAERPQHMLMRVSVGIHKEDIDAAIETYNLLSERWFTHASPTLFNAGTNRPQLSSCFLLSMKD
  DSIEGIYDTLKQCALISKSAGGIGVAVSCIRATGSYIAGTNGNSNGLVPMLRVYNNTARYVDQGGNKRPGAFAIY
  LEPWHLDIFEFLDLKKNTGKEEQRARDLFFALWIPDLFMKRVETNQDWSLMCPNECPGLDEVWGEEFEKLYASYE
  KQGRVRKVVKAQQLWYAIIESQTETGTPYMLYKDSCNRKSNQQNLGTIKCSNLCTEIVEYTSKDEVAVCNLASLA
  LNMYVTSEHTYDFKKLAEVTKVVVRNLNKIIDINYYPVPEACLSNKRHRPIGIGVQGLADAFILMRYPFESAEAQ
  LLNKQIFETIYYGALEASCDLAKEQGPYETYEGSPVSKGILQYDMWNVTPTDLWDWKVLKEKIAKYGIRNSLLIA
  PMPTASTAQILGNNESIEPYTSNIYTRRVLSGEFQIVNPHLLKDLTERGLWHEEMKNQIIACNGSIQSIPEIPDD
  LKQLYKTVWEISQKTVLKMAAERGAFIDQSQSLNIHIAEPNYGKLTSMHFYGWKQGLKTGMYYLRTRPAANPIQF
  TLNKEKLKDKEKVSKEEEEKERNTAAMVCSLENRDECLMCGS

• Structural information:
  • Protein Domains: (1..9-)
    (/note="ATP-cone-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00492"-)
  • Interpro: IPR005144  IPR013346  IPR000788  IPR013509  IPR008926   IPR039718  
  • Prosite: PS51161 PS00089
  • PDB: 2WGH 3HNC 3HND 3HNE 3HNF 4X3V 5D1Y 5TUS 6AUI
  • PDBsum: 2WGH 3HNC 3HND 3HNE 3HNF 4X3V 5D1Y 5TUS 6AUI
  • DIP: 24233
  • STRING: ENSP00000300738
• Other Databases: GeneCards:  RRM1  Malacards:  RRM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061731	ribonucleoside-diphosphate reductase activity	IMP	molecular function
GO:0005971	ribonucleoside-diphosphate reductase complex	IBA	cellular component
GO:0004748	ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	IBA	molecular function
GO:0009263	deoxyribonucleotide biosynthetic process	IBA	biological process
GO:0004748	ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	ISS	molecular function
GO:0009263	deoxyribonucleotide biosynthetic process	ISS	biological process
GO:0004748	ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004748	ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0015949	nucleobase-containing small molecule interconversion	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000278	mitotic cell cycle	IEA	biological process
GO:0021846	cell proliferation in forebrain	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0004748	ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	IEA	molecular function
GO:0005971	ribonucleoside-diphosphate reductase complex	IEA	cellular component
GO:0017076	purine nucleotide binding	IEA	molecular function
GO:0097718	disordered domain specific binding	IEA	molecular function
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006206	pyrimidine nucleobase metabolic process	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0009263	deoxyribonucleotide biosynthetic process	IEA	biological process
GO:0051290	protein heterotetramerization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006260	DNA replication	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00983	Drug metabolism - other enzymes
hsa00240	Pyrimidine metabolism
hsa00480	Glutathione metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq