FARSB - phenylalanyl-tRNA synthetase subunit beta Gene

Homo sapiens

Also known as FRSB; PheHB; PheRS; FARSLB; RILDBC; HSPC173; NEDBLLA; RILDBC1

Gene ID: 10056 | Gene type: protein coding

About FARSB

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:222,566,899-222,656,092 (from NCBI)

This gene has 2 transcripts (splice variants), 212 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 8.3), testis (RPKM 8.2) and 25 other tissues.

Summary

This gene encodes a highly conserved Enzyme that belongs to the Aminoacyl-tRNA Synthetase class IIc subfamily. This Enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

FARSB Products(1)

mRNA	Protein	Name
NM_005687.5	NP_005678.3	phenylalanine--tRNA ligase beta subunit

FARSB Protein Structure

B3_4

0
100
200
300
400
500
589 a.a.

Protein Preferred Names

Protein Names

phenylalanine--tRNA ligase beta subunit

phenylalanine tRNA ligase 1, beta, cytoplasmic

Related Diseases

Diseases

Alias

Rajab Interstitial Lung Disease With Brain Calcifications 1

Rajab Interstitial Lung Disease With Brain Calcifications	Rajab Syndrome
RILDBC1	Rildbc
Developmental Delay, Small Stature, Microcephaly, And Brain Calcifications, Formerly	Neurodevelopmental Disorder With Brain, Liver, And Lung Abnormalities, Formerly
Nedblla, Formerly	Developmental Delay, Small Stature, Microcephaly, And Brain Calcifications
Nedblla	Neurodevelopmental Disorder With Brain, Liver, And Lung Abnormalities

Liver Cirrhosis

Cirrhosis	Cirrhosis Of Liver
CIRRH	Cryptogenic Cirrhosis
Cirrhosis, Cryptogenic	Cirrhosis Nos

Brain Calcification, Rajab Type

Interstitial Lung And Liver Disease

Severe Early-Onset Pulmonary Alveolar Proteinosis Due To Mars Deficiency	ILLD
Pulmonary Alveolar Proteinosis, Reunion Island	Infantile Liver Failure Syndrome 2
Infantile Liver Failure Syndrome 2, Formerly	Ilfs2, Formerly
Hereditary Pulmonary Alveolar Proteinosis With Hepatic Involvement	Pap, Reunion Island Type
Pulmonary Alveolar Proteinosis, Reunion Island Type	Ilfs2
Lung And Liver Disease, Interstitial

Interstitial Lung Disease

Ild	Lung Diseases, Interstitial
Lung Diseases Interstitial	Interstitial Lung Diseases

Lung Disease

Lung Diseases	Disorder Of Lung
Abnormality Of The Lung

Niemann-Pick Disease, Type C2

NPC2	Niemann-Pick Disease Type C2
Niemann-Pick C2 Disease	Niemann-Pick Disease C2

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04750	FARSB Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FARSB	RGD	RGD:1303210
Macaca mulatta	FARSB	VGNC	VGNC:72522
Mus musculus	FARSB	MGD	MGI:1346035
Felis catus	FARSB	VGNC	VGNC:80210
Bos taurus	FARSB	VGNC	VGNC:28868
Canis familiaris	FARSB	VGNC	VGNC:97196

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