REV1 (REV1 DNA directed polymerase)

Gene

• Entrez ID: 51455
• Gene name: REV1 DNA directed polymerase
• Gene symbol: REV1
• Synonyms (NCBI Gene): AIBP80, REV1L
• Chromosome: 2
• Chromosome location: 2q11.2
• Summary: This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006779	hsa-miR-96-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	22761336
MIRT030984	hsa-miR-21-5p	Microarray	18591254
MIRT296871	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439784	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT296868	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT296871	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439784	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT296867	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT296872	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT296869	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT296874	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT296868	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT734471	hsa-miR-30c-5p	Immunofluorescence, Immunohistochemistry (IHC), Immunoprecipitaion (IP), In situ hybridization, in vitro cullelar assays, Luciferase reporter assay, qRT-PCR, Western blotting	31511498
MIRT1301114	hsa-miR-1271	CLIP-seq
MIRT1301115	hsa-miR-182	CLIP-seq
MIRT1301116	hsa-miR-183	CLIP-seq
MIRT1301117	hsa-miR-200b	CLIP-seq
MIRT1301118	hsa-miR-200c	CLIP-seq
MIRT1301119	hsa-miR-3143	CLIP-seq
MIRT1301120	hsa-miR-3185	CLIP-seq
MIRT1301121	hsa-miR-3668	CLIP-seq
MIRT1301122	hsa-miR-3935	CLIP-seq
MIRT1301123	hsa-miR-4268	CLIP-seq
MIRT1301124	hsa-miR-429	CLIP-seq
MIRT1301125	hsa-miR-4448	CLIP-seq
MIRT1301126	hsa-miR-4457	CLIP-seq
MIRT1301127	hsa-miR-4666-5p	CLIP-seq
MIRT1301128	hsa-miR-4699-3p	CLIP-seq
MIRT1301129	hsa-miR-4777-3p	CLIP-seq
MIRT1301130	hsa-miR-513b	CLIP-seq
MIRT1301131	hsa-miR-7	CLIP-seq
MIRT1301132	hsa-miR-875-5p	CLIP-seq
MIRT1301133	hsa-miR-944	CLIP-seq
MIRT1301134	hsa-miR-96	CLIP-seq
MIRT2314318	hsa-miR-1208	CLIP-seq
MIRT2314319	hsa-miR-1254	CLIP-seq
MIRT1301114	hsa-miR-1271	CLIP-seq
MIRT2314320	hsa-miR-1294	CLIP-seq
MIRT2314321	hsa-miR-1297	CLIP-seq
MIRT1301115	hsa-miR-182	CLIP-seq
MIRT1301116	hsa-miR-183	CLIP-seq
MIRT1301117	hsa-miR-200b	CLIP-seq
MIRT1301118	hsa-miR-200c	CLIP-seq
MIRT2314322	hsa-miR-26a	CLIP-seq
MIRT2314323	hsa-miR-26b	CLIP-seq
MIRT2314324	hsa-miR-30a	CLIP-seq
MIRT2314325	hsa-miR-30b	CLIP-seq
MIRT2314326	hsa-miR-30c	CLIP-seq
MIRT2314327	hsa-miR-30d	CLIP-seq
MIRT2314328	hsa-miR-30e	CLIP-seq
MIRT2314329	hsa-miR-3116	CLIP-seq
MIRT2314330	hsa-miR-3155	CLIP-seq
MIRT2314331	hsa-miR-3155b	CLIP-seq
MIRT2314332	hsa-miR-3176	CLIP-seq
MIRT2314333	hsa-miR-326	CLIP-seq
MIRT2314334	hsa-miR-330-5p	CLIP-seq
MIRT2314335	hsa-miR-3607-3p	CLIP-seq
MIRT2314336	hsa-miR-361-5p	CLIP-seq
MIRT2314337	hsa-miR-3689d	CLIP-seq
MIRT2314338	hsa-miR-3919	CLIP-seq
MIRT2314339	hsa-miR-3922-3p	CLIP-seq
MIRT2314340	hsa-miR-4254	CLIP-seq
MIRT1301124	hsa-miR-429	CLIP-seq
MIRT2314341	hsa-miR-4316	CLIP-seq
MIRT2314342	hsa-miR-4420	CLIP-seq
MIRT2314343	hsa-miR-4455	CLIP-seq
MIRT1301126	hsa-miR-4457	CLIP-seq
MIRT2314344	hsa-miR-4465	CLIP-seq
MIRT2314345	hsa-miR-4490	CLIP-seq
MIRT1301127	hsa-miR-4666-5p	CLIP-seq
MIRT1301128	hsa-miR-4699-3p	CLIP-seq
MIRT2314346	hsa-miR-4711-5p	CLIP-seq
MIRT2314347	hsa-miR-4756-3p	CLIP-seq
MIRT2314348	hsa-miR-4774-5p	CLIP-seq
MIRT1301129	hsa-miR-4777-3p	CLIP-seq
MIRT2314349	hsa-miR-484	CLIP-seq
MIRT1301130	hsa-miR-513b	CLIP-seq
MIRT2314350	hsa-miR-548c-3p	CLIP-seq
MIRT2314351	hsa-miR-609	CLIP-seq
MIRT2314352	hsa-miR-622	CLIP-seq
MIRT1301132	hsa-miR-875-5p	CLIP-seq
MIRT1301133	hsa-miR-944	CLIP-seq
MIRT1301134	hsa-miR-96	CLIP-seq
MIRT2314319	hsa-miR-1254	CLIP-seq
MIRT2610789	hsa-miR-1266	CLIP-seq
MIRT1301114	hsa-miR-1271	CLIP-seq
MIRT1301115	hsa-miR-182	CLIP-seq
MIRT2610790	hsa-miR-219-1-3p	CLIP-seq
MIRT2314329	hsa-miR-3116	CLIP-seq
MIRT2610791	hsa-miR-3157-5p	CLIP-seq
MIRT2314332	hsa-miR-3176	CLIP-seq
MIRT2610792	hsa-miR-3664-3p	CLIP-seq
MIRT2314337	hsa-miR-3689d	CLIP-seq
MIRT2314339	hsa-miR-3922-3p	CLIP-seq
MIRT2610793	hsa-miR-3942-3p	CLIP-seq
MIRT2314340	hsa-miR-4254	CLIP-seq
MIRT2610794	hsa-miR-4274	CLIP-seq
MIRT2610795	hsa-miR-4477b	CLIP-seq
MIRT2610796	hsa-miR-4518	CLIP-seq
MIRT2610797	hsa-miR-4519	CLIP-seq
MIRT2610798	hsa-miR-4524	CLIP-seq
MIRT2610799	hsa-miR-4719	CLIP-seq
MIRT2610800	hsa-miR-4786-5p	CLIP-seq
MIRT1301130	hsa-miR-513b	CLIP-seq
MIRT2314352	hsa-miR-622	CLIP-seq
MIRT2610801	hsa-miR-769-5p	CLIP-seq
MIRT2610802	hsa-miR-873	CLIP-seq
MIRT1301134	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	TAS	10536157
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0005515	Function	Protein binding	IPI	11485998, 22266823, 26318859
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006259	Process	DNA metabolic process	IEA
GO:0006260	Process	DNA replication	TAS	10536157
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0009411	Process	Response to UV	IDA	11485998
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0017125	Function	Deoxycytidyl transferase activity	IBA
GO:0017125	Function	Deoxycytidyl transferase activity	IEA
GO:0017125	Function	Deoxycytidyl transferase activity	TAS
GO:0042276	Process	Error-prone translesion synthesis	IBA
GO:0042276	Process	Error-prone translesion synthesis	IEA
GO:0042276	Process	Error-prone translesion synthesis	IEA
GO:0042276	Process	Error-prone translesion synthesis	TAS	11485998
GO:0046872	Function	Metal ion binding	IEA
GO:0070987	Process	Error-free translesion synthesis	IBA
GO:0071897	Process	DNA biosynthetic process	IEA

Other IDs

• MIM: 606134
• HGNC: 14060
• e!Ensembl: ENSG00000135945

Protein

• UniProt ID: Q9UBZ9
• Protein name: DNA repair protein REV1 (EC 2.7.7.-) (Alpha integrin-binding protein 80) (AIBP80) (Rev1-like terminal deoxycytidyl transferase)
• Protein function: Deoxycytidyl transferase involved in DNA repair. Transfers a dCMP residue from dCTP to the 3'-end of a DNA primer in a template-dependent reaction. May assist in the first step in the bypass of abasic lesions by the insertion of a nucleotide opp
• PDB: 2EBW, 2LSI, 2LSK, 2LSY, 2N1G, 3GQC, 3VU7, 4BA9, 4EXT, 4GK0, 4GK5, 5VZM, 6ASR, 6AXD, 6WS0, 6WS5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16589	BRCT_2	45 → 130	BRCT domain, a BRCA1 C-terminus domain	Family
  PF00817	IMS	422 → 622	impB/mucB/samB family	Family
  PF11799	IMS_C	702 → 830	impB/mucB/samB family C-terminal domain	Domain
  PF14377	UBM	931 → 957	Ubiquitin binding region	Repeat
  PF14377	UBM	1009 → 1042	Ubiquitin binding region	Repeat
  PF16727	REV1_C	1167 → 1248	DNA repair protein REV1 C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10536157, ECO:0000269|PubMed:11278384, ECO:0000269|PubMed:11485998}.
• Sequence:

  MRRGGWRKRAENDGWETWGGYMAAKVQKLEEQFRSDAAMQKDGTSSTIFSGVAIYVNGYT
  DPSAEELRKLMMLHGGQYHVYYSRSKTTHIIATNLPNAKIKELKGEKVIRPEWIVESIKA
  GRLLSYIPYQLYTKQSSVQKGLSFNPVCRPEDPLPGPSNIAKQLNNRVNHIVKKIETENE
  VKVNGMNSWNEEDENNDFSFVDLEQTSPGRKQNGIPHPRGSTAIFNGHTPSSNGALKTQD
  CLVPMVNSVASRLSPAFSQEEDKAEKSSTDFRDCTLQQLQQSTRNTDALRNPHRTNSFSL
  SPLHSNTKINGAHHSTVQGPSSTKSTSSVSTFSKAAPSVPSKPSDCNFISNFYSHSRLHH
  ISMWKCELTEFVNTLQRQSNGIFPGREKLKKMKTGRSALVVTDTGDMSVLNSPRHQSCIM
  HVDMDCFFVSVGIRNRPDLKGKPVAVTSNRGTGRAPLRPGANPQLEWQYYQNKILKGKAA
  DIPDSSLWENPDSAQANGIDSVLSRAEIASCSYEARQLGIKNGMFFGHAKQLCPNLQAVP
  YDFHAYKEVAQTLYETLASYTHNIEAVSCDEALVDITEILAETKLTPDEFANAVRMEIKD
  QTKCAASVGIGSNILLARMATRKAKPDGQYHLKPEEVDDFIRGQLVTNLPGVGHSMESKL
  ASLGIKTCGDLQYMTMAKLQKEFGPKTGQMLYRFCRGLDDRPVRTEKERKSVSAEINYGI
  RFTQPKEAEAFLLSLSEEIQRRLEATGMKGKRLTLKIMVRKPGAPVETAKFGGHGICDNI
  ARTVTLDQATDNAKIIGKAMLNMFHTMKLNISDMRGVGIHVNQLVPTNLNPSTCPSRPSV
  QSSHFPSGSYSVRDVFQVQKAKKSTEEEHKEVFRAAVDLEISSASRTCTFLPPFPAHLPT
  SPDTNKAESSGKWNGLHTPVSVQSRLNLSIEVPSPSQLDQSVLEALPPDLREQVEQVCAV
  QQAESHGDKKKEPVNGCNTGILPQPVGTVLLQIPEPQESNSDAGINLIALPAFSQVDPEV
  FAALPAELQRELKAAYDQRQRQGENSTHQQSASASVPKNPLLHLKAAVKEKKRNKKKKTI
  GSPKRIQSPLNNKLLNSPAKTLPGACGSPQKLIDGFLKHEGPPAEKPLEELSASTSGVPG
  LSSLQSDPAGCVRPPAPNLAGAVEFNDVKTLLREWITTISDPMEEDILQVVKYCTDLIEE
  KDLEKLDLVIKYMKRLMQQSVESVWNMAFDFILDNVQVVLQQTYGSTLKVT

• Sequence length: 1251

Pathways

KEGG:

Fanconi anemia pathway

Reactome:

Translesion synthesis by REV1
Translesion synthesis by POLK
Translesion synthesis by POLI
Termination of translesion DNA synthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	31511498		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26914252, 35115490	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15609317, 24012694		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18470628		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35880088	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	18448394, 20028736		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	18448394, 23195997		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	18448394	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18448394, 23195997		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	28541665		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	24956248		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24012694	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35115490	Stimulate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASDB_DG	22472876		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31511498		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15609317, 24012694		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	20877637		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29642934, 31398321		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1741165, 21455670, 28541665, 8275494, 8781548		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	24956248		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25748439	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	20877637		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	20877637		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	20877637		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26914252	Associate	★☆☆☆☆ Found in Text Mining only