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

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

Homo sapiens

Also known as POLZ; REV3

Gene ID: 5980 | Gene type: protein coding

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

REV3L Protein Structure

DNA_pol_B_exo1

DNA_pol_B_exo1: DNA polymerase family B, exonuclease domain (46 - 190)

DNA_pol_B_exo1

DNA_pol_B_exo1: DNA polymerase family B, exonuclease domain (2235 - 2484)

DNA_pol_B

DNA_pol_B: DNA polymerase family B (2558 - 3001)

zf-C4pol

zf-C4pol: C4-type zinc-finger of DNA polymerase delta (3042 - 3109)

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  • 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

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