Q9NYK5 (RM39_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
39S ribosomal protein L39, mitochondrial
Short name=L39mt
Short name=MRP-L39

Alternative name(s):
39S ribosomal protein L5, mitochondrial
Short name=L5mt
Short name=MRP-L5

Gene names

Name:	MRPL39
Synonyms:	C21orf92, MRPL5, RPML5
ORF Names:	MSTP003, PRED22

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	338 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Mitochondrion.
Tissue specificity	Isoform 1 is ubiquitously expressed. Isoform 2 is heart-specific.
Sequence similarities	To the N-terminal of threonyl-tRNA synthetases.
Caution	Ref.1 indicates C21orf8 as a synonym for this orf, this is incorrect, C21orf8 is already assigned to another chromosome 21 region. It is uncertain whether Met-1 or Met-6 is the initiator.
Sequence caution	The sequence AAF44696.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAQ13505.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAA91177.1 differs from that shown. Reason: Frameshift at position 72.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Ribonucleoprotein Ribosomal protein
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	mitochondrial ribosome Non-traceable author statement Ref.6. Source: UniProtKB
Molecular_function	nucleotide binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NYK5-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NYK5-2)

Also known as: MRP-L5V1;

The sequence of this isoform differs from the canonical sequence as follows:
     324-338: VTEDQSKATEECTST → TPFPILLLFTTQSFFTTSPESYLLHGTVSE

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 338	338	39S ribosomal protein L39, mitochondrial		PRO_0000087684
Amino acid modifications
	Modified residue	126	1	N6-acetyllysine Ref.9
Natural variations
	Alternative sequence	324 – 338	15	VTEDQ…ECTST → TPFPILLLFTTQSFFTTSPE SYLLHGTVSE in isoform 2.		VSP_005718
	Natural variant	31	1	S → P. Ref.1 Ref.2 Ref.4 Ref.5 Corresponds to variant rs3989369 [ dbSNP | Ensembl ].		VAR_052041
Experimental info
	Sequence conflict	140	1	K → E in AAF44696. Ref.1
	Sequence conflict	140	1	K → E in BAA91177. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: BB0139678F72B63D	FASTA	338	38,712
	10 20 30 40 50 60 MEALAMGSRA LRLWLVAPGG GIKWRFIATS SASQLSPTEL TEMRNDLFNK EKARQLSLTP 70 80 90 100 110 120 RTEKIEVKHV GKTDPGTVFV MNKNISTPYS CAMHLSEWYC RKSILALVDG QPWDMYKPLT 130 140 150 160 170 180 KSCEIKFLTF KDCDPGEVNK AYWRSCAMMM GCVIERAFKD EYMVNLVRAP EVPVISGAFC 190 200 210 220 230 240 YDVVLDSKLD EWMPTKENLR SFTKDAHALI YKDLPFETLE VEAKVALEIF QHSKYKVDFI 250 260 270 280 290 300 EEKASQNPER IVKLHRIGDF IDVSEGPLIP RTSICFQYEV SAVHNLQPTQ PSLIRRFQGV 310 320 330 SLPVHLRAHF TIWDKLLERS RKMVTEDQSK ATEECTST
	Isoform 2 (MRP-L5V1) [UniParc]. Checksum: B6371F87123E62EC	FASTA	353	40,458
	10 20 30 40 50 60 MEALAMGSRA LRLWLVAPGG GIKWRFIATS SASQLSPTEL TEMRNDLFNK EKARQLSLTP 70 80 90 100 110 120 RTEKIEVKHV GKTDPGTVFV MNKNISTPYS CAMHLSEWYC RKSILALVDG QPWDMYKPLT 130 140 150 160 170 180 KSCEIKFLTF KDCDPGEVNK AYWRSCAMMM GCVIERAFKD EYMVNLVRAP EVPVISGAFC 190 200 210 220 230 240 YDVVLDSKLD EWMPTKENLR SFTKDAHALI YKDLPFETLE VEAKVALEIF QHSKYKVDFI 250 260 270 280 290 300 EEKASQNPER IVKLHRIGDF IDVSEGPLIP RTSICFQYEV SAVHNLQPTQ PSLIRRFQGV 310 320 330 340 350 SLPVHLRAHF TIWDKLLERS RKMTPFPILL LFTTQSFFTT SPESYLLHGT VSE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Construction of a transcript map in the LL56-APP region of chromosome 21q21.1-21.2." Choi D.K., Taylor T.D., Hattori M., Sakaki Y. Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PRO-31.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-31.
[3]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L. Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE 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] (ISOFORM 1), VARIANT PRO-31. Tissue: Muscle.
[5]	Hui R.T., Liu Y.Q., Liu B., Zhao B., Meng X.M., Sheng H., Xu Y.Y., Wang X.Y., Ye J., Song L., Gao Y., Wei Y.J., Zhang C.L., Zhang J., Chai M.Q., Chen J.Z., Sun Y.H., Zhou X.L. , Jiang Y.X., Zhao X.W., Liu S., Cao H.Q., Zhao Y., Liu D.Q., Ding J.F., Liu L.S., Gao R.L., Wu Q.Y., Qiang B.Q., Yuan J.G., Liew C.C., Zhao M.S. Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-338 (ISOFORM 1), VARIANT PRO-31. Tissue: Heart.
[6]	"Heart-specific splice-variant of a human mitochondrial ribosomal protein (mRNA processing; tissue specific splicing)." Spirina O., Bykhovskaya Y., Kajava A.V., O'Brien T.W., Nierlich D.P., Mougey E.B., Sylvester J.E., Graack H.-R., Wittmann-Liebold B., Fischel-Ghodsian N. Gene 261:229-234(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 150-338 (ISOFORM 2). Tissue: Heart.
[7]	"The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders." Kenmochi N., Suzuki T., Uechi T., Magoori M., Kuniba M., Higa S., Watanabe K., Tanaka T. Genomics 77:65-70(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 175-183.
[8]	"Mammalian mitochondrial ribosomal proteins (2). Amino acid sequencing, characterization, and identification of corresponding gene sequences." O'Brien T.W., Fiesler S.E., Denslow N.D., Thiede B., Wittmann-Liebold B., Mougey E.B., Sylvester J.E., Graack H.R. J. Biol. Chem. 274:36043-36051(1999) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION.
[9]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-126, MASS SPECTROMETRY.
[10]	"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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF239727 mRNA. Translation: AAF44696.1. Different initiation. AK000458 mRNA. Translation: BAA91177.1. Frameshift. AP000223 Genomic DNA. No translation available. BC004896 mRNA. Translation: AAH04896.2. BC107719 mRNA. Translation: AAI07720.1. AF109357 mRNA. Translation: AAQ13505.1. Different initiation. AF270511 mRNA. Translation: AAK12856.1. AB051346 Genomic DNA. Translation: BAB54936.1.
IPI	IPI00084571. IPI00295427.
RefSeq	NP_059142.2. NM_017446.3. NP_542984.2. NM_080794.3.
UniGene	Hs.420696.
3D structure databases
ProteinModelPortal	Q9NYK5.
SMR	Q9NYK5. Positions 86-327.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NYK5. 2 interactions.
STRING	9606.ENSP00000305682.
PTM databases
PhosphoSite	Q9NYK5.
Polymorphism databases
DMDM	296452977.
Proteomic databases
PaxDb	Q9NYK5.
PRIDE	Q9NYK5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000307301; ENSP00000305682; ENSG00000154719. ENST00000352957; ENSP00000284967; ENSG00000154719.
GeneID	54148.
KEGG	hsa:54148.
UCSC	uc002yln.3. human. uc002ylo.3. human.
Organism-specific databases
CTD	54148.
GeneCards	GC21M026957.
HGNC	HGNC:14027. MRPL39.
HPA	HPA018331.
MIM	611845. gene.
neXtProt	NX_Q9NYK5.
PharmGKB	PA30970.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0441.
HOVERGEN	HBG023123.
OMA	AHALIYK.
OrthoDB	EOG4FJ89G.
PhylomeDB	Q9NYK5.
Gene expression databases
ArrayExpress	Q9NYK5.
Bgee	Q9NYK5.
CleanEx	HS_MRPL39.
Genevestigator	Q9NYK5.
GermOnline	ENSG00000154719. Homo sapiens.
Family and domain databases
Gene3D	3.10.20.30. 1 hit.
InterPro	IPR012675. Beta-grasp_dom. IPR015552. Ribosomal_L39_mit. IPR018163. Thr/Ala-tRNA-synth_IIc_edit. [Graphical view]
PANTHER	PTHR11451:SF2. PTHR11451:SF2. 1 hit.
SUPFAM	SSF55186. Thr/Ala-tRNA-synth_IIc_edit. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	MRPL39. human.
GenomeRNAi	54148.
NextBio	56504.
SOURCE	Search...

Entry information

Entry name

RM39_HUMAN

Accession

Primary (citable) accession number: Q9NYK5
Secondary accession number(s): C9JYA5 , Q32Q74, Q5QTR3, Q96Q65, Q9BSQ7, Q9BZV6, Q9NX44

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 108 of the entry and version 3 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.