Q53S33 (BOLA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
BolA-like protein 3

Gene names

Name:

BOLA3

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

General annotation (Comments)

Subcellular location	Secreted. Note: Could be secreted via a non-classical export pathway. Ref.5
Tissue specificity	Widely expressed. Ref.5
Involvement in disease	Multiple mitochondrial dysfunctions syndrome 2 (MMDS2) [MIM:614299]: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6
Sequence similarities	Belongs to the bolA/yrbA family.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q53S33-1)

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: Q53S33-2)

The sequence of this isoform differs from the canonical sequence as follows:
     58-107: GCGAMYEIKI...LRIFTSVPKR → TKRRNQRDAW...WMNFTDIILP

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 107	107	BolA-like protein 3		PRO_0000245501
Natural variations
	Alternative sequence	58 – 107	50	GCGAM…SVPKR → TKRRNQRDAWIADIYLCPQT LTTPWLHRCCCLRPWMNFTD IILP in isoform 2.		VSP_045787

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 24, 2005. Version 1. Checksum: EF3BF21DF14BD136	FASTA	107	12,114
	10 20 30 40 50 60 MAAWSPAAAA PLLRGIRGLP LHHRMFATQT EGELRVTQIL KEKFPRATAI KVTDISGGCG 70 80 90 100 AMYEIKIESE EFKEKRTVQQ HQMVNQALKE EIKEMHGLRI FTSVPKR
	Isoform 2 [UniParc]. Checksum: B57EDE2A2A0A1F69	FASTA	101	11,569
	10 20 30 40 50 60 MAAWSPAAAA PLLRGIRGLP LHHRMFATQT EGELRVTQIL KEKFPRATAI KVTDISGTKR 70 80 90 100 RNQRDAWIAD IYLCPQTLTT PWLHRCCCLR PWMNFTDIIL P

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Zhou Y., Cao J., Han Z. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Liver.
[2]	"Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence." Adams M.D., Kerlavage A.R., Fleischmann R.D., Fuldner R.A., Bult C.J., Lee N.H., Kirkness E.F., Weinstock K.G., Gocayne J.D., White O. Nature 377:3-174(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Colon.
[3]	"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].
[4]	Mural R.J., Istrail S., Sutton 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].
[5]	"hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence." Zhou Y.B., Cao J.B., Wan B.B., Wang X.R., Ding G.H., Zhu H., Yang H.M., Wang K.S., Zhang X., Han Z.G. Mol. Cell. Biochem. 317:61-68(2008) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[6]	"Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes." Cameron J.M., Janer A., Levandovskiy V., Mackay N., Rouault T.A., Tong W.H., Ogilvie I., Shoubridge E.A., Robinson B.H. Am. J. Hum. Genet. 89:486-495(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MMDS2.
[7]	"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	DQ225187 mRNA. Translation: ABB04094.1. AA316348 mRNA. No translation available. AC073263 Genomic DNA. Translation: AAX93059.1. CH471053 Genomic DNA. Translation: EAW99700.1.
IPI	IPI00412229.
RefSeq	NP_001030582.1. NM_001035505.1. NP_997717.2. NM_212552.2.
UniGene	Hs.61472.
3D structure databases
ProteinModelPortal	Q53S33.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000331369.
Polymorphism databases
DMDM	74726650.
Proteomic databases
PaxDb	Q53S33.
PRIDE	Q53S33.
Protocols and materials databases
DNASU	388962.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295326; ENSP00000295326; ENSG00000163170. ENST00000327428; ENSP00000331369; ENSG00000163170.
GeneID	388962.
KEGG	hsa:388962.
UCSC	uc002skc.1. human.
Organism-specific databases
CTD	388962.
GeneCards	GC02M074275.
HGNC	HGNC:24415. BOLA3.
HPA	HPA053162.
MIM	613183. gene. 614299. phenotype.
neXtProt	NX_Q53S33.
Orphanet	289573. Fatal multiple mitochondrial dysfunction syndrome.
PharmGKB	PA142672554.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0271.
HOGENOM	HOG000255169.
HOVERGEN	HBG054131.
InParanoid	Q53S33.
OMA	YEIQIES.
OrthoDB	EOG43N7FB.
PhylomeDB	Q53S33.
Gene expression databases
ArrayExpress	Q53S33.
Bgee	Q53S33.
CleanEx	HS_BOLA3.
Genevestigator	Q53S33.
GermOnline	ENSG00000163170. Homo sapiens.
Family and domain databases
InterPro	IPR002634. BolA. [Graphical view]
Pfam	PF01722. BolA. 1 hit. [Graphical view]
PIRSF	PIRSF003113. BolA. 1 hit.
SUPFAM	SSF82657. BolA. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	BOLA3. human.
GenomeRNAi	388962.
NextBio	102488.
SOURCE	Search...

Entry information

Entry name

BOLA3_HUMAN

Accession

Primary (citable) accession number: Q53S33
Secondary accession number(s): G3XAB0

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2006
Last sequence update:	May 24, 2005
Last modified:	May 1, 2013
This is version 63 of the entry and version 1 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.