1. Gene
  2. FARSB - phenylalanyl-tRNA synthetase subunit beta Gene

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

B3_4: B3/4 domain (118 - 279)

B5

B5: tRNA synthetase B5 domain (308 - 374)

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  • 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

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