P46778 (RL21_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
60S ribosomal protein L21

Gene names

Name:

RPL21

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	160 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Involvement in disease	Defects in RPL21 are a cause of generalized hypotrichosis simplex (HTS). A rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. Ref.9
Sequence similarities	Belongs to the ribosomal protein L21e family.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Disease	Disease mutation Hypotrichosis
Molecular function	Ribonucleoprotein Ribosomal protein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	SRP-dependent cotranslational protein targeting to membrane Traceable author statement. Source: Reactome nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Traceable author statement. Source: Reactome translational elongation Traceable author statement. Source: Reactome translational initiation Traceable author statement. Source: Reactome translational termination Traceable author statement. Source: Reactome viral transcription Traceable author statement. Source: Reactome
Cellular_component	cytosolic large ribosomal subunit Inferred from direct assay Ref.7. Source: UniProtKB
Molecular_function	RNA binding Traceable author statement Ref.1. Source: ProtInc structural constituent of ribosome Non-traceable author statement Ref.7. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.7
	Chain	2 – 160	159	60S ribosomal protein L21		PRO_0000149669
Natural variations
	Natural variant	15	1	F → S. Corresponds to variant rs17085349 [ dbSNP | Ensembl ].		VAR_034459
	Natural variant	32	1	R → Q in HTS. Ref.9		VAR_066030
Experimental info
	Sequence conflict	72	1	V → A in AAA93231. Ref.2
	Sequence conflict	78	1	K → E in AAA93231. Ref.2
	Sequence conflict	104	1	S → N in AAA93231. Ref.2
	Sequence conflict	112	1	N → D in AAA93231. Ref.2
	Sequence conflict	115	1	K → E in AAA93231. Ref.2
	Sequence conflict	120	1	K → Q in AAA93231. Ref.2
	Sequence conflict	131	1	Q → H in AAA80462. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	P46778 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: C51D0B5E8EB9D69E	FASTA	160	18,565
	10 20 30 40 50 60 MTNTKGKRRG TRYMFSRPFR KHGVVPLATY MRIYKKGDIV DIKGMGTVQK GMPHKCYHGK 70 80 90 100 110 120 TGRVYNVTQH AVGIVVNKQV KGKILAKRIN VRIEHIKHSK SRDSFLKRVK ENDQKKKEAK 130 140 150 160 EKGTWVQLKR QPAPPREAHF VRTNGKEPEL LEPIPYEFMA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs." Frigerio J.-M., Dagorn J.-C., Iovanna J.L. Biochim. Biophys. Acta 1262:64-68(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Colon.
[2]	"Comparison of the positional cloning methods used to isolate the BRCA1 gene." Harshman K., Bell R., Rosenthal J., Katcher H., Miki Y., Swenson J., Gholami Z., Frye C., Ding W., Dayananth P., Eddington K., Norris F.H., Bristow P.K., Phelps R., Hattier T., Stone S., Shaffer D., Bayer S. , Hussey C., Tran T., Lai M., Rosteck P.R. Jr., Skolnick M.H., Shattuck-Eidens D., Kamb A. Hum. Mol. Genet. 4:1259-1266(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"The human ribosomal protein genes: sequencing and comparative analysis of 73 genes." Yoshihama M., Uechi T., Asakawa S., Kawasaki K., Kato S., Higa S., Maeda N., Minoshima S., Tanaka T., Shimizu N., Kenmochi N. Genome Res. 12:379-390(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain, Lymph, Muscle, Pancreas, Prostate and Testis.
[5]	"A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21." Albertsen H.M., Smith S.A., Mazoyer S., Fujimoto E., Stevens J., Williams B., Rodriguez P., Cropp C.S., Slijepcevic P., Carlson M., Robertson M., Bradley P., Lawrence E., Harrington T., Sheng Z.M., Hoopes R., Sternberg N., Brothman A. , Callahan R., Ponder B.A.J., White R. Nat. Genet. 7:472-479(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 9-160. Tissue: Brain.
[6]	"A map of 75 human ribosomal protein genes." Kenmochi N., Kawaguchi T., Rozen S., Davis E., Goodman N., Hudson T.J., Tanaka T., Page D.C. Genome Res. 8:509-523(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 124-154.
[7]	"Characterization and analysis of posttranslational modifications of the human large cytoplasmic ribosomal subunit proteins by mass spectrometry and Edman sequencing." Odintsova T.I., Muller E.C., Ivanov A.V., Egorov T.A., Bienert R., Vladimirov S.N., Kostka S., Otto A., Wittmann-Liebold B., Karpova G.G. J. Protein Chem. 22:249-258(2003) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-15, MASS SPECTROMETRY.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]	"Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex." Zhou C., Zang D., Jin Y., Wu H., Liu Z., Du J., Zhang J. Hum. Mutat. 32:710-714(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HTS GLN-32.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X89401 mRNA. Translation: CAA61582.1. U14967 mRNA. Translation: AAA85655.1. AB061826 Genomic DNA. Translation: BAB79464.1. BC001603 mRNA. Translation: AAH01603.1. BC007505 mRNA. Translation: AAH07505.1. BC062981 mRNA. Translation: AAH62981.1. BC070184 mRNA. Translation: AAH70184.1. BC070323 mRNA. Translation: AAH70323.1. BC070330 mRNA. Translation: AAH70330.1. U25789 mRNA. Translation: AAA93231.1. L38826 Genomic DNA. Translation: AAA80462.1. AB007176 Genomic DNA. Translation: BAA25835.1.
IPI	IPI00247583.
PIR	S55913.
RefSeq	NP_000973.2. NM_000982.3.
UniGene	Hs.381123. Hs.535873.
3D structure databases
ProteinModelPortal	P46778.
ModBase	Search...
Protein-protein interaction databases
IntAct	P46778. 23 interactions.
STRING	9606.ENSP00000346027.
PTM databases
PhosphoSite	P46778.
Polymorphism databases
DMDM	1172991.
2D gel databases
SWISS-2DPAGE	P46778.
Proteomic databases
PaxDb	P46778.
PRIDE	P46778.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000272274; ENSP00000351021; ENSG00000122026. ENST00000311549; ENSP00000346027; ENSG00000122026. ENST00000319826; ENSP00000370574; ENSG00000122026. ENST00000326092; ENSP00000370569; ENSG00000122026.
GeneID	6144.
KEGG	hsa:6144.
UCSC	uc001uqz.1. human.
Organism-specific databases
CTD	6144.
GeneCards	GC13P027827.
H-InvDB	HIX0096689.
HGNC	HGNC:10313. RPL21.
HPA	HPA047252.
MIM	603636. gene.
neXtProt	NX_P46778.
Orphanet	55654. Hypotrichosis simplex.
PharmGKB	PA34683.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2139.
HOVERGEN	HBG001518.
InParanoid	P46778.
KO	K02889.
OMA	TRYMFAR.
OrthoDB	EOG4K6G5D.
PhylomeDB	P46778.
Enzyme and pathway databases
Reactome	REACT_116125. Disease. REACT_17015. Metabolism of proteins. REACT_1762. 3' -UTR-mediated translational regulation. REACT_21257. Metabolism of RNA. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	P46778.
Bgee	P46778.
CleanEx	HS_RPL21.
Genevestigator	P46778.
GermOnline	ENSG00000122026. Homo sapiens.
Family and domain databases
InterPro	IPR001147. Ribosomal_L21e. IPR018259. Ribosomal_L21e_CS. IPR008991. Translation_prot_SH3-like. [Graphical view]
PANTHER	PTHR20981. PTHR20981. 1 hit.
Pfam	PF01157. Ribosomal_L21e. 1 hit. [Graphical view]
SUPFAM	SSF50104. Transl_SH3_like. 1 hit.
PROSITE	PS01171. RIBOSOMAL_L21E. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RPL21. human.
GenomeRNAi	6144.
NextBio	23871.
SOURCE	Search...

Entry information

Entry name

RL21_HUMAN

Accession

Primary (citable) accession number: P46778
Secondary accession number(s): Q16699

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 138 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.