Q9BYD6 (RM01_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
39S ribosomal protein L1, mitochondrial
Short name=L1mt
Short name=MRP-L1

Gene names

Name:	MRPL1
ORF Names:	BM-022

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	325 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)

Subcellular location	Mitochondrion Ref.5.
Sequence similarities	Belongs to the ribosomal protein L1P family.
Sequence caution	The sequence AAF87327.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAF87327.1 differs from that shown. Reason: Frameshift at positions 4, 6, 19, 123, 139 and 147. The sequence AAH14356.1 differs from that shown. Reason: Erroneous initiation. The sequence AAH15109.1 differs from that shown. Reason: Erroneous initiation. The sequence AAH32595.1 differs from that shown. Reason: Erroneous initiation. The sequence AAY41057.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence BAB15005.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB40180.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB40180.1 differs from that shown. Reason: Frameshift at position 20.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Domain	Transit peptide
Molecular function	Ribonucleoprotein Ribosomal protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	translation Inferred from electronic annotation. Source: InterPro
Cellular_component	large ribosomal subunit Inferred from electronic annotation. Source: InterPro mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	RNA binding Inferred from electronic annotation. Source: InterPro structural constituent of ribosome Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 50	50	Mitochondrion Potential
	Chain	51 – 325	275	39S ribosomal protein L1, mitochondrial		PRO_0000252440
Natural variations
	Natural variant	47	1	T → K. Ref.4 Corresponds to variant rs17851275 [ dbSNP | Ensembl ].		VAR_027865
	Natural variant	177	1	F → S. Ref.4 Corresponds to variant rs17855456 [ dbSNP | Ensembl ].		VAR_027866
Experimental info
	Sequence conflict	85	1	D → N in BAB15005. Ref.7
	Sequence conflict	229	1	D → H in CAG33472. Ref.4
	Sequence conflict	265	1	D → G in BAB15005. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Q9BYD6 [UniParc]. Last modified June 16, 2009. Version 2. Checksum: EB53BEE59065B682	FASTA	325	36,909
	10 20 30 40 50 60 MAAAVRCMGR ALIHHQRHSL SKMVYQTSLC SCSVNIRVPN RHFAAATKSA KKTKKGAKEK 70 80 90 100 110 120 TPDEKKDEIE KIKAYPYMEG EPEDDVYLKR LYPRQIYEVE KAVHLLKKFQ ILDFTSPKQS 130 140 150 160 170 180 VYLDLTLDMA LGKKKNVEPF TSVLSLPYPF ASEINKVAVF TENASEVKIA EENGAAFAGG 190 200 210 220 230 240 TSLIQKIWDD EIVADFYVAV PEIMPELNRL RKKLNKKYPK LSRNSIGRDI PKMLELFKNG 250 260 270 280 290 300 HEIKVDEERE NFLQTKIATL DMSSDQIAAN LQAVINEVCR HRPLNLGPFV VRAFLRSSTS 310 320 EGLLLKIDPL LPKEVKNEES EKEDA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel gene expressed in human bone marrow." Zhao M., Song H., Li N., Peng Y., Han Z., Chen Z. Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Bone marrow.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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], VARIANTS LYS-47 AND SER-177. Tissue: Bone marrow and Skin.
[5]	"Structural compensation for the deficit of rRNA with proteins in the mammalian mitochondrial ribosome. Systematic analysis of protein components of the large ribosomal subunit from mammalian mitochondria." Suzuki T., Terasaki M., Takemoto-Hori C., Hanada T., Ueda T., Wada A., Watanabe K. J. Biol. Chem. 276:21724-21736(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 10-325, SUBCELLULAR LOCATION.
[6]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 23-325.
[7]	"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] OF 68-325. Tissue: Coronary artery.
[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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF212225 mRNA. Translation: AAF87327.1. Sequence problems. AC112225 Genomic DNA. Translation: AAY41057.1. Sequence problems. AC114801 Genomic DNA. No translation available. CH471057 Genomic DNA. Translation: EAX05820.1. BC014356 mRNA. Translation: AAH14356.1. Different initiation. BC015109 mRNA. Translation: AAH15109.1. Different initiation. BC032595 mRNA. Translation: AAH32595.1. Different initiation. AB049474 mRNA. Translation: BAB40180.1. Sequence problems. CR457191 mRNA. Translation: CAG33472.1. AK024791 mRNA. Translation: BAB15005.1. Different initiation.
IPI	IPI00549381.
RefSeq	NP_064621.3. NM_020236.3.
UniGene	Hs.532019.
3D structure databases
ProteinModelPortal	Q9BYD6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BYD6. 1 interaction.
STRING	9606.ENSP00000315017.
PTM databases
PhosphoSite	Q9BYD6.
Polymorphism databases
DMDM	239938694.
Proteomic databases
PaxDb	Q9BYD6.
PRIDE	Q9BYD6.
Protocols and materials databases
DNASU	65008.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000315567; ENSP00000315017; ENSG00000169288.
GeneID	65008.
KEGG	hsa:65008.
UCSC	uc003hku.2. human.
Organism-specific databases
CTD	65008.
GeneCards	GC04P078694.
HGNC	HGNC:14275. MRPL1.
HPA	HPA043656.
MIM	611821. gene.
neXtProt	NX_Q9BYD6.
PharmGKB	PA30938.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG271882.
HOVERGEN	HBG061212.
InParanoid	Q9BYD6.
KO	K02863.
OMA	HRETHHP.
OrthoDB	EOG4K6G54.
Gene expression databases
Bgee	Q9BYD6.
CleanEx	HS_MRPL1.
Genevestigator	Q9BYD6.
GermOnline	ENSG00000169288. Homo sapiens.
Family and domain databases
Gene3D	3.30.190.20. 2 hits. 3.40.50.790. 1 hit.
InterPro	IPR016094. Ribosomal_L1_2-a/b-sand. IPR016095. Ribosomal_L1_3-a/b-sand. IPR024663. Ribosomal_L1_chr. IPR005879. Ribosomal_L1_mit. IPR023674. Ribosomal_L1_SF. [Graphical view]
Pfam	PF13003. MRL1. 1 hit. [Graphical view]
SUPFAM	SSF56808. Ribosomal_L1. 1 hit.
TIGRFAMs	TIGR01170. rplA_mito. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	65008.
NextBio	67192.
SOURCE	Search...

Entry information

Entry name

RM01_HUMAN

Accession

Primary (citable) accession number: Q9BYD6
Secondary accession number(s): A6NG03 , Q4W5B8, Q6IAG4, Q96BW3, Q9H793, Q9NRL5

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 17, 2006
Last sequence update:	June 16, 2009
Last modified:	May 1, 2013
This is version 92 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.