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RPS17 (human)

Overview RPS17 Defects in RPS17 are the cause of Diamond-Blackfan anemia type 4 (DBA4). DBA4 is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Belongs to the ribosomal protein S17e family. Note: This description may include information from UniProtKB. Protein type: Translation; Ribosomal protein Cellular Component: ribosome; cytosol Molecular Function: structural constituent of ribosome Biological Process: SRP-dependent cotranslational protein targeting to membrane; viral reproduction; translation; translational termination; viral infectious cycle; mRNA metabolic process; erythrocyte homeostasis; ribosomal small subunit biogenesis and assembly; cellular protein metabolic process; translational elongation; RNA metabolic process; translational initiation; mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly and maintenance; gene expression; viral transcription; rRNA processing Reference #:  P08708 (UniProtKB) Alt. Names/Synonyms: 40S ribosomal protein S17; AC010724.3; DBA4; MGC72007; ribosomal protein S17; RPS17; RPS17L1; RPS17L2; RS17 Gene Symbols: RPS17 Molecular weight: 15,550 Da Basal Isoelectric point: 9.85  Predict pI for various phosphorylation states

Select Structure to View Below RPS17

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  DISEASE 180472 612527  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
1	8		K19-a	AARVIIEkYyTRLGN
0	75		K19-u	AARVIIEkYyTRLGN
0	6		Y21-p	RVIIEkYyTRLGNDF
0	5		K32-a	GNDFHTNkRVCEEIA
0	3		K32-u	GNDFHTNkRVCEEIA
0	3		K44-u	EIAIIPSkKLRNkIA
0	29		K49-u	PSkKLRNkIAGYVtH
0	1		T55-p	NkIAGYVtHLMkRIQ
0	2		K59-u	GYVtHLMkRIQRGPV
0	7		K72-u	PVRGISIkLQEEERE
0	1		T102	IIEVDPDTkEMLkLL
0	11		K103-u	IEVDPDTkEMLkLLD
0	82		K107-u	PDTkEMLkLLDFGsL
0	52		S113-p	LkLLDFGsLsNLQVT
0	14		S115-p	LLDFGsLsNLQVTQP
0	2		K129-a	PTVGMNFktPRGPV_
0	38		K129-u	PTVGMNFktPRGPV_
0	31		T130-p	TVGMNFktPRGPV__

	mouse
K19-a	AARVIIEkYyTRLGN
K19-u	AARVIIEkYyTRLGN
Y21-p	RVIIEkYyTRLGNDF
K32	GNDFHTNKRVCEEIA
K32	GNDFHTNKRVCEEIA
K44	EIAIIPSKKLRNkIA
K49-u	PSKKLRNkIAGYVTH
T55	NkIAGYVTHLMKRIQ
K59	GYVTHLMKRIQRGPV
K72-u	PVRGISIkLQEEERE
T102-p	IIEVDPDtkEMLkLL
K103-u	IEVDPDtkEMLkLLD
K107-u	PDtkEMLkLLDFGsL
S113-p	LkLLDFGsLsNLQVT
S115-p	LLDFGsLsNLQVTQP
K129	PTVGMNFKtPRGAV_
K129-u	PTVGMNFktPRGAV_
T130-p	TVGMNFktPRGAV__

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