Description: | histidyl-tRNA synthetase [Source:HGNC Symbol;Acc:HGNC:4816] |
Synonyms: | CMT2W, USH3B, HRS |
Other ID(s): | ENSG00000170445, HGNC:4816 |
Protein Accession Numbers: | NP_002100, ENST00000504156, ENST00000415192, ENST00000507746, ENST00000438307, NP_001276021, ENST00000307633, NP_001244969, NP_001276023, ENST00000457527, ENST00000504366, ENST00000431330, NP_001244971, ENST00000512396, ENST00000448240, ENST00000504156.1, NP_001276022, NP_001244970 |
Statistics: | ClinVar(169) gnomAD(353) COSMIC(127) PTM(43) |
∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000307633 You are here now!
ENST00000415192
ENST00000431330
ENST00000438307
ENST00000448240
ENST00000457527
ENST00000504156
ENST00000504366
ENST00000507746
ENST00000512396
NP_001244969
NP_001244970
NP_001244971 You are here now!
NP_001276021
NP_001276022
NP_001276023
NP_002100
Pfam Domain filter_list | Domain Name filter_list | Description filter_list | Positions filter_list | Clan filter_list | Clan Name filter_list | Organism filter_list |
---|---|---|---|---|---|---|
NO RESULT FOUND | ||||||
PF00458 | WHEP-TRS | WHEP-TRS domain | 7-55 | CL0600 | S15_NS1 | Homo sapiens |
PF03129 | HGTP_anticodon | Anticodon binding domain | 410-501 | CL0458 | IIaaRS-ABD | Homo sapiens |
PF13393 | tRNA-synt_His | Histidyl-tRNA synthetase | 61-389 | CL0040 | tRNA_synt_II | Homo sapiens |
Disease Name filter_list | Disease Category filter_list | DSI* filter_list | DPI** filter_list | ||
---|---|---|---|---|---|
Autoimmune Diseases | Immune System Diseases ; | 0.609 | 0.655 | ||
Renal Cell Carcinoma | Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; | 0.609 | 0.655 | ||
Charcot-Marie-Tooth Disease | Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; | 0.609 | 0.655 | ||
Lung diseases | Respiratory Tract Diseases ; | 0.609 | 0.655 | ||
Conventional (Clear Cell) Renal Cell Carcinoma | Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; | 0.609 | 0.655 | ||
Chromophobe Renal Cell Carcinoma | Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; | 0.609 | 0.655 | ||
Sarcomatoid Renal Cell Carcinoma | Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; | 0.609 | 0.655 | ||
Collecting Duct Carcinoma of the Kidney | Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; | 0.609 | 0.655 | ||
Papillary Renal Cell Carcinoma | Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; | 0.609 | 0.655 | ||
Usher Syndrome, Type III | Otorhinolaryngologic Diseases ; Nervous System Diseases ; Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; | 0.609 | 0.655 | ||
USHER SYNDROME, TYPE IIIB | N/A | 0.609 | 0.655 | ||
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W | N/A | 0.609 | 0.655 | ||
NO RESULT FOUND |