RRM1 (ribonucleotide reductase catalytic subunit M1)

Gene

• Entrez ID: 6240
• Gene name: Ribonucleotide reductase catalytic subunit M1
• Gene symbol: RRM1
• Synonyms: R1, RIR1, RR1
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: 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 the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004159	hsa-miR-192-5p	Microarray	16822819
MIRT023637	hsa-miR-1-3p	Proteomics	18668040
MIRT037088	hsa-miR-877-3p	CLASH	23622248
MIRT046549	hsa-let-7i-5p	CLASH	23622248
MIRT046549	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT049472	hsa-miR-92a-3p	CLASH	23622248
MIRT459724	hsa-miR-1273e	PAR-CLIP	23592263
MIRT459725	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT459726	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT459727	hsa-miR-4710	PAR-CLIP	23592263
MIRT459728	hsa-miR-4792	PAR-CLIP	23592263
MIRT459729	hsa-miR-379-5p	PAR-CLIP	23592263
MIRT459730	hsa-miR-3529-5p	PAR-CLIP	23592263
MIRT459731	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT459732	hsa-miR-4500	PAR-CLIP	23592263
MIRT459733	hsa-miR-4458	PAR-CLIP	23592263
MIRT459734	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT459735	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT459736	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT459737	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT459738	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT459739	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT459740	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT459741	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT459742	hsa-miR-665	PAR-CLIP	23592263
MIRT459743	hsa-miR-4459	PAR-CLIP	23592263
MIRT459744	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT459745	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT459746	hsa-miR-6863	PAR-CLIP	23592263

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	14618416
TFDP1	Activation	14618416

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0004748	Function	Ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	IBA	21873635
GO:0004748	Function	Ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor	ISS
GO:0005515	Function	Protein binding	IPI	17726094, 21336276, 22632967, 28514442, 32296183
GO:0005524	Function	ATP binding	IBA	21873635
GO:0005635	Component	Nuclear envelope	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005971	Component	Ribonucleoside-diphosphate reductase complex	IBA	21873635
GO:0006206	Process	Pyrimidine nucleobase metabolic process	IEA
GO:0006260	Process	DNA replication	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0009263	Process	Deoxyribonucleotide biosynthetic process	IBA	21873635
GO:0009263	Process	Deoxyribonucleotide biosynthetic process	ISS
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0015949	Process	Nucleobase-containing small molecule interconversion	TAS
GO:0021846	Process	Cell proliferation in forebrain	IEA
GO:0042802	Function	Identical protein binding	IPI	17726094, 21336276, 25416956
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0051290	Process	Protein heterotetramerization	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0061731	Function	Ribonucleoside-diphosphate reductase activity	IMP	21336276
GO:0097718	Function	Disordered domain specific binding	IEA

Other IDs

• MIM: 180410
• HGNC: 10451
• e!Ensembl: ENSG00000167325

Protein

• UniProt ID: P23921
• Protein name: Ribonucleoside-diphosphate reductase large subunit (EC 1.17.4.1) (Ribonucleoside-diphosphate reductase subunit M1) (Ribonucleotide reductase large subunit)
• Protein function: Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides.
• PDB: 2WGH, 3HNC, 3HND, 3HNE, 3HNF, 4X3V, 5D1Y, 5TUS, 6AUI, 6L3R, 6L7L, 6LKM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03477	ATP-cone	1 → 89	ATP cone domain	Domain
  PF00317	Ribonuc_red_lgN	141 → 213	Ribonucleotide reductase, all-alpha domain	Domain
  PF02867	Ribonuc_red_lgC	216 → 738	Ribonucleotide reductase, barrel domain	Family

• Sequence:

  MHVIKRDGRQERVMFDKITSRIQKLCYGLNMDFVDPAQITMKVIQGLYSGVTTVELDTLA
  AETAATLTTKHPDYAILAARIAVSNLHKETKKVFSDVMEDLYNYINPHNGKHSPMVAKST
  LDIVLANKDRLNSAIIYDRDFSYNYFGFKTLERSYLLKINGKVAERPQHMLMRVSVGIHK
  EDIDAAIETYNLLSERWFTHASPTLFNAGTNRPQLSSCFLLSMKDDSIEGIYDTLKQCAL
  ISKSAGGIGVAVSCIRATGSYIAGTNGNSNGLVPMLRVYNNTARYVDQGGNKRPGAFAIY
  LEPWHLDIFEFLDLKKNTGKEEQRARDLFFALWIPDLFMKRVETNQDWSLMCPNECPGLD
  EVWGEEFEKLYASYEKQGRVRKVVKAQQLWYAIIESQTETGTPYMLYKDSCNRKSNQQNL
  GTIKCSNLCTEIVEYTSKDEVAVCNLASLALNMYVTSEHTYDFKKLAEVTKVVVRNLNKI
  IDINYYPVPEACLSNKRHRPIGIGVQGLADAFILMRYPFESAEAQLLNKQIFETIYYGAL
  EASCDLAKEQGPYETYEGSPVSKGILQYDMWNVTPTDLWDWKVLKEKIAKYGIRNSLLIA
  PMPTASTAQILGNNESIEPYTSNIYTRRVLSGEFQIVNPHLLKDLTERGLWHEEMKNQII
  ACNGSIQSIPEIPDDLKQLYKTVWEISQKTVLKMAAERGAFIDQSQSLNIHIAEPNYGKL
  TSMHFYGWKQGLKTGMYYLRTRPAANPIQFTLNKEKLKDKEKVSKEEEEKERNTAAMVCS
  LENRDECLMCGS

• Sequence length: 792

Pathways

KEGG:

Purine metabolism
Pyrimidine metabolism
Glutathione metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism

Reactome:

Interconversion of nucleotide di- and triphosphates

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Neural tube defect	Neural Tube Defects	rs121918220, rs121434297, rs137853061, rs137853062, rs3127334, rs267607167, rs267607168, rs387907204, rs139365610, rs137955120, rs786201015, rs786201016, rs768434408, rs777661576, rs747846362, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs763539350, rs776483190, rs757259023, rs781461462, rs762921297, rs1114167354, rs557643577, rs147277149, rs765586205, rs377443637, rs1563593163, rs1303000329, rs1565818580, rs986604359, rs1293600145, rs114727354, rs768980918, rs140277700, rs139645527, rs750323424, rs368321176, rs1579619636, rs893229476, rs754990692, rs763079713, rs1593037878, rs747100389, rs372056091, rs1593083585, rs778121031, rs748778907, rs776969786, rs1189298981, rs375908206, rs1734858651, rs778738842	10716750
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	21496433
Adrenocortical carcinoma	Adrenocortical carcinoma	rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664, rs587782705, rs193920817, rs55863639, rs730882029, rs730882005, rs730882025, rs730881999, rs786201838, rs786202962, rs863224451, rs863224499, rs760043106, rs11540652, rs11540654, rs876658483, rs587781525, rs1057519986, rs1057519989, rs530941076, rs1060501197, rs1064792930, rs1064794618, rs1131691042, rs1555526131, rs1057519990, rs1555526097, rs1567554500, rs1131691039, rs1202793339, rs769697802	22547773
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	27602772
Anencephaly	Iniencephaly, Exencephaly	rs773607884	10716750

Unknown
Disease name	Disease term	dbSNP ID	References
Acrania	Acrania		10716750
Craniorachischisis	Craniorachischisis		10716750
Diastematomyelia	Diastematomyelia		10716750
Liver carcinoma	Liver carcinoma		18230555
Neurenteric cyst	Neurenteric Cyst		10716750
Primary tethered cord syndrome	Tethered Cord Syndrome		10716750
Spinal cord myelodysplasia	Spinal Cord Myelodysplasia		10716750