REV3L - REV3 like, DNA directed polymerase zeta catalytic subunit Gene

Also Known as POLZ; REV3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5980

About REV3L

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:111,299,033-111,483,711 (from NCBI)

This gene has 13 transcripts (splice variants), 208 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 7.3), testis (RPKM 3.7) and 25 other tissues.

Summary

The protein encoded by this gene represents the catalytic subunit of DNA Polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]

REV3L Products (4)

mRNA	Protein	Name
NM_001286431.2	NP_001273360.1	DNA polymerase zeta catalytic subunit isoform b
NM_001286432.2	NP_001273361.1	DNA polymerase zeta catalytic subunit isoform b
NM_001372078.1	NP_001359007.1	DNA polymerase zeta catalytic subunit isoform a
NM_002912.5	NP_002903.3	DNA polymerase zeta catalytic subunit isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22828282	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in error-prone translesion synthesis	IDA IDA: Inferred from direct assay	24449906	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of zeta DNA polymerase complex	IDA IDA: Inferred from direct assay	20164194	GOA
part of zeta DNA polymerase complex	IPI IPI: Inferred from physical interaction	24449906	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

REV3L Protein Structure

DNA_pol_B_exo1

DNA_pol_B

zf-C4pol

0
500
1000
1500
2000
2500
3000
3130 a.a.

Protein Preferred Names	Protein Names
DNA polymerase zeta catalytic subunit	REV3-like, polymerase (DNA directed), zeta, catalytic subunit

Related Diseases

Diseases	Alias
Moebius Syndrome	Mobius Syndrome Moebius Sequence Oromandibular-Limb Hypogenesis Spectrum Congenital Facial Diplegia MBS Moebius Congenital Oculofacial Paralysis Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves Congenital Facial Diplegia Syndrome Congenital Oculofacial Paralysis Congenital Ophthalmoplegia And Facial Paresis Moebius Spectrum Möbius Sequence Möbius Syndrome Mobius Ii Syndrome
Lymph Node Carcinoma	Lymph Node Cancer Lymph Node Neoplasm Neoplasm Of Lymph Node
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	HH16 Hypogonadism, Hypogonadotropic, Type 16 With/Without Anosmia
Carey-Fineman-Ziter Syndrome 1	Carey-Fineman-Ziter Syndrome CFZS Congenital Nonprogressive Myopathy With Moebius And Robin Sequences Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence Cfz Syndrome Carey Fineman Ziter Syndrome Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences Myopathy-Moebius-Robin Syndrome CFZS1 Moebius Sequence, Robin Complex, And Hypotonia Congenital Non-Progressive Myopathy With Moebius And Robin Sequences
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Poland Syndrome	Poland Anomaly Poland Sequence Poland Syndactyly Poland'S Syndrome Poland'S Anomaly Poland'S Syndactyly Acro-Pectoro-Renal Field Defect Brachydactyly, Absent Pectoral Muscles And Agenesis/Hypoplasia Of Kidneys Unilateral Defect Of Pectoralis Muscle And Syndactyly Of The Hand Unilateral Defect Of Pectoralis Major And Syndactyly Of The Hand
Xia-Gibbs Syndrome	Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome XIGIS Mrd25 Ahdc1-Related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome Mental Retardation, Autosomal Dominant 25, Formerly Mrd25, Formerly Autosomal Dominant Mental Retardation 25 Autosomal Dominant Intellectual Disability 25 Xgs
Fanconi Anemia, Complementation Group C	Fanconi Anemia Complementation Group C FANCC Facc Fac Fa3 Fanconi Pancytopenia Type 3 Fanconi Pancytopenia, Type 3 Faces Syndrome Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies Friedman-Goodman Syndrome Abnormality Of The Face
Congenital Fibrosis Of The Extraocular Muscles	Congenital Fibrosis Of Extraocular Muscles Cfeom Feom Congenital External Ophthalmoplegia Congenital Fibrosis Syndrome General Fibrosis Syndrome
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100468	REV7/REV3L-IN-1	Inhibitor	98.11%	Unkown
HY-RS11862	REV3L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-100468R	REV7/REV3L-IN-1 (Standard)	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	REV3L	VGNC	VGNC:45488
Bos taurus	REV3L	VGNC	VGNC:33883
Felis catus	REV3L	VGNC	VGNC:69293
Rattus norvegicus	REV3L	RGD	RGD:1307087
Mus musculus	REV3L	MGD	MGI:1337131
Macaca mulatta	REV3L	VGNC	VGNC:76900
Others	REV3L	NCBI