1. Gene
  2. ETF1 - eukaryotic translation termination factor 1 Gene

ETF1 - eukaryotic translation termination factor 1 Gene

Homo sapiens

Also known as ERF; RF1; ERF1; TB3-1; D5S1995; SUP45L1

Gene ID: 2107 | Gene type: protein coding

About ETF1

Cytogenetic location: 5q31.2 Genomic coordinates (GRCh38): 5:138,506,095-138,543,236 (from NCBI)

This gene has 9 transcripts (splice variants) and 246 orthologues. Ubiquitous expression in bone marrow (RPKM 46.6), esophagus (RPKM 37.2) and 25 other tissues.

Summary

This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug 2013]

ETF1 Products(6)

mRNA Protein Name
NM_001256302.2 NP_001243231.1 eukaryotic peptide chain release factor subunit 1 isoform 2
NM_001282185.2 NP_001269114.1 eukaryotic peptide chain release factor subunit 1 isoform 3
NM_001291974.2 NP_001278903.1 eukaryotic peptide chain release factor subunit 1 isoform 2
NM_001291975.2 NP_001278904.1 eukaryotic peptide chain release factor subunit 1 isoform 2
NM_001364160.2 NP_001351089.1 eukaryotic peptide chain release factor subunit 1 isoform 2
NM_004730.4 NP_004721.1 eukaryotic peptide chain release factor subunit 1 isoform 1

ETF1 Protein Structure

eRF1_1

eRF1_1: eRF1 domain 1 (9 - 139)

eRF1_2

eRF1_2: eRF1 domain 2 (145 - 277)

eRF1_3

eRF1_3: eRF1 domain 3 (280 - 417)

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  • 437 a.a.
Protein Preferred Names Protein Names

eukaryotic peptide chain release factor subunit 1

polypeptide chain release factor 1

Related Diseases

Diseases Alias
Human Monocytic Ehrlichiosis

Ehrlichiosis Chafeensis

Hme

Human Ehrlichial Infection, Human Monocytic Type

Ulna And Fibula, Absence Of, With Severe Limb Deficiency

Schinzel Phocomelia Syndrome

Aarrs

Limb/Pelvis-Hypoplasia/Aplasia Syndrome

LPHAS

Schinzel Type Phocomelia

Absence Of Ulna And Fibula With Severe Limb Deficiency

Al-Awadi/Raas-Rothschild Syndrome

Al Awadi-Raas-Rothschild Syndrome

Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

Aplasia/Hypoplasia Of Limbs And Pelvis

Congenital Absence Of Ulna And Fibula

Severe Limb Deficit

Phocomelia, Schinzel Type

Al-Awadi-Raas-Rothschild Syndrome

Ulna And Fibula Absence Of With Severe Limb Deficiency

Limb Pelvis Hypoplasia Aplasia Syndrome

Limb/Pelvis/Uterus-Hypoplasia/Aplasia Syndrome

Ulna And Fibula, Absence Of, With Sever Limb Deficiency

Bone Chondrosarcoma
Human Granulocytic Anaplasmosis

Human Granulocytic Ehrlichiosis

Hge

Human Ehrlichial Infection, Human Granulocytic Type

Human Anaplasmosis Due To Anaplasma Phagocytophilum

Ehrlichiosis

Human Ehrlichiosis

He

Hey

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
Macaca mulatta ETF1 VGNC VGNC:84370
Felis catus ETF1 VGNC VGNC:97422
Bos taurus ETF1 VGNC VGNC:28617
Mus musculus ETF1 MGD MGI:2385071
Rattus norvegicus ETF1 RGD RGD:1305712