RBCC Red Blood Cell Collection

SYDC_HUMAN

Source: hRBCD ; ID: IPI00216951
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: DARS , PIG40
Protein names and data: SYDC_HUMAN , Aspartate--tRNA ligase, cytoplasmic; 6.1.1.12 , Aspartyl-tRNA synthetase; AspRS; Cell proliferation-inducing gene 40 protein Lenght: 501 a.a.
Mass: 57136 Da
fasta formatted sequence
Function: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.
Catalytic activity: ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp).
Disease: ( OMIM: 603084 615281 ) Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]: An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm.
Tissue specificity: Expression in the developing and adult brain shows similar patterns. Highly expressed in the ventricular and subventricular zones, including hippocampal subfields, the midlateral temporaal cortex and the frontal polar cortex. The cerebellum, cereral cortex, hippocampus, and lateral ventricle show preferential neuronal expression. Expression in the peripheral neurons is evident in the colon.

Genetic variants

256 - 256 M -> L (in HBSL). VAR_070038
274 - 274 A -> V (in HBSL). VAR_070039
367 - 367 D -> Y (in HBSL). VAR_070040
426 - 426 L -> F (in dbSNP:rs1803165). VAR_027611 1803165
460 - 460 R -> H (in HBSL). VAR_070041
464 - 464 P -> L (in HBSL). VAR_070042
487 - 487 R -> C (in HBSL). VAR_070043
494 - 494 R -> C (in HBSL). VAR_070044
494 - 494 R -> G (in HBSL). VAR_070045

Database cross-references

UniProt: P14868
Ensembl: ENST00000264161
MIM: 603084
MIM: 615281
neXtProt: NX_P14868
Antibodypedia: P14868 (may not find the protein thus also not any antibody)
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