Reviewed, UniProtKB/Swiss-Prot Q15070 (OXA1L_HUMAN)

Names and origin

Protein names

Recommended name:
    Mitochondrial inner membrane protein OXA1L
Alternative name(s):
    Oxidase assembly 1-like protein
      Short name=OXA1-like protein
    OXA1Hs
    Hsa

Gene names

Name:

OXA1L

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	435 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome oxidase.
Subcellular location	Mitochondrion inner membrane; Multi-pass membrane protein.
Sequence similarities	Belongs to the OXA1/oxaA family.
Sequence caution	The sequence CAA05127.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide Transmembrane
Gene Ontology (GO)
Biological process	aerobic respiration Ref.1 Ref.2 Inferred from mutant phenotype. Source: UniProtKB mitochondrial proton-transporting ATP synthase complex assembly Inferred from mutant phenotype. Source: UniProtKB mitochondrial respiratory chain complex I assembly Inferred from mutant phenotype. Source: UniProtKB negative regulation of ATPase activity Inferred from mutant phenotype. Source: UniProtKB negative regulation of oxidoreductase activity Inferred from mutant phenotype. Source: UniProtKB oxidation reduction Ref.2 Non-traceable author statement. Source: UniProtKB protein insertion into membrane Inferred from electronic annotation. Source: InterPro
Cellular component	integral to mitochondrial membrane Inferred from direct assay. Source: UniProtKB mitochondrial respiratory chain Ref.2 Non-traceable author statement. Source: UniProtKB protein complex Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q15070-1)

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: Q15070-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MAMGLMCGRRELLRLLQSGRR → MRGTQ

Notes: No experimental confirmation available.

Isoform 3 (identifier: Q15070-3)

The sequence of this isoform differs from the canonical sequence as follows:
     147-149: CTV → F
     224-265: APIFISFFIA...LTVSDPIYIL → VSKNISFLIS...VDYTWLSVVG
     266-435: Missing.

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – ?		Mitochondrion Potential
	Chain	? – 435		Mitochondrial inner membrane protein OXA1L		PRO_0000020352
Regions
	Transmembrane	114 – 134	21	Potential
	Transmembrane	140 – 160	21	Potential
	Transmembrane	213 – 233	21	Potential
	Transmembrane	261 – 281	21	Potential
	Transmembrane	300 – 320	21	Potential
Natural variations
	Alternative sequence	1 – 21	21	MAMGL…QSGRR → MRGTQ in isoform 2.		VSP_008942
	Alternative sequence	147 – 149	3	CTV → F in isoform 3.		VSP_008943
	Alternative sequence	224 – 265	42	APIFI…PIYIL → VSKNISFLISSSTHEISSLC FMCPRSPKKQVVVDYTWLSV VG in isoform 3.		VSP_008944
	Alternative sequence	266 – 435	170	Missing in isoform 3.		VSP_008945
	Natural variant	44	1	V → A: dbSNP rs8572.		VAR_014932
	Natural variant	91	1	V → I: dbSNP rs17619.		VAR_014933

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 14, 2003. Version 3. Checksum: CE959F07BCC56041	FASTA	435	48,548
	10 20 30 40 50 60 MAMGLMCGRR ELLRLLQSGR RVHSVAGPSQ WLGKPLTTRL LFPVAPCCCR PHYLFLAASG 70 80 90 100 110 120 PRSLSTSAIS FAEVQVQAPP VVAATPSPTA VPEVASGETA DVVQTAAEQS FAELGLGSYT 130 140 150 160 170 180 PVGLIQNLLE FMHVDLGLPW WGAIAACTVF ARCLIFPLIV TGQREAARIH NHLPEIQKFS 190 200 210 220 230 240 SRIREAKLAG DHIEYYKASS EMALYQKKHG IKLYKPLILP VTQAPIFISF FIALREMANL 250 260 270 280 290 300 PVPSLQTGGL WWFQDLTVSD PIYILPLAVT ATMWAVLELG AETGVQSSDL QWMRNVIRMM 310 320 330 340 350 360 PLITLPITMH FPTAVFMYWL SSNLFSLVQV SCLRIPAVRT VLKIPQRVVH DLDKLPPREG 370 380 390 400 410 420 FLESFKKGWK NAEMTRQLRE REQRMRNQLE LAARGPLRQT FTHNPLLQPG KDNPPNIPSS 430 SSKPKSKYPW HDTLG
	Isoform 2 [UniParc]. Checksum: 54AC7CD4BB1A241B		419	46,691
	10 20 30 40 50 60 MRGTQVHSVA GPSQWLGKPL TTRLLFPVAP CCCRPHYLFL AASGPRSLST SAISFAEVQV 70 80 90 100 110 120 QAPPVVAATP SPTAVPEVAS GETADVVQTA AEQSFAELGL GSYTPVGLIQ NLLEFMHVDL 130 140 150 160 170 180 GLPWWGAIAA CTVFARCLIF PLIVTGQREA ARIHNHLPEI QKFSSRIREA KLAGDHIEYY 190 200 210 220 230 240 KASSEMALYQ KKHGIKLYKP LILPVTQAPI FISFFIALRE MANLPVPSLQ TGGLWWFQDL 250 260 270 280 290 300 TVSDPIYILP LAVTATMWAV LELGAETGVQ SSDLQWMRNV IRMMPLITLP ITMHFPTAVF 310 320 330 340 350 360 MYWLSSNLFS LVQVSCLRIP AVRTVLKIPQ RVVHDLDKLP PREGFLESFK KGWKNAEMTR 370 380 390 400 410 QLREREQRMR NQLELAARGP LRQTFTHNPL LQPGKDNPPN IPSSSSKPKS KYPWHDTLG
	Isoform 3 [UniParc]. Checksum: 84069C19904FB7F5		263	28,803
	10 20 30 40 50 60 MAMGLMCGRR ELLRLLQSGR RVHSVAGPSQ WLGKPLTTRL LFPVAPCCCR PHYLFLAASG 70 80 90 100 110 120 PRSLSTSAIS FAEVQVQAPP VVAATPSPTA VPEVASGETA DVVQTAAEQS FAELGLGSYT 130 140 150 160 170 180 PVGLIQNLLE FMHVDLGLPW WGAIAAFFAR CLIFPLIVTG QREAARIHNH LPEIQKFSSR 190 200 210 220 230 240 IREAKLAGDH IEYYKASSEM ALYQKKHGIK LYKPLILPVT QVSKNISFLI SSSTHEISSL 250 260 CFMCPRSPKK QVVVDYTWLS VVG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae." Bonnefoy N., Kermorgant M., Groudinsky O., Minet M., Slonimski P.P., Dujardin G. Proc. Natl. Acad. Sci. U.S.A. 91:11978-11982(1994) [PubMed: 7991568] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION. Tissue: Cervix adenocarcinoma.
[2]	"Sequence and structure of the human OXA1L gene and its upstream elements." Roetig A., Parfait B., Heidet L., Dujardin G., Rustin P., Munnich A. Biochim. Biophys. Acta 1361:6-10(1997) [PubMed: 9247084] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Full-length cDNA libraries and normalization." Li W.B., Gruber C., Jessee J., Polayes D. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-435 (ISOFORM 3), VARIANT ALA-44. Tissue: Fetal liver and T-cell.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Lung.

Cross-references

Sequence databases
EMBLGenBankDDBJ	X80695 mRNA. Translation: CAA56712.1. AJ001981 Genomic DNA. Translation: CAA05127.1. Sequence problems. BX248001 mRNA. Translation: CAD62333.1. BX248295 mRNA. Translation: CAD62623.1. BC001669 mRNA. Translation: AAH01669.2. Different initiation.
PIR	I38079.
UniGene	Hs.151134
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q15070.
Genome annotation databases
Ensembl	ENSG00000155463. Homo sapiens. [Contig view]
Organism-specific databases
H-InvDB	HIX0011519.
HGNC	HGNC:8526. OXA1L.
HPA	HPA003531.
MIM	601066. gene.
PharmGKB	PA32854.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q15070.
Gene expression databases
ArrayExpress	Q15070.
CleanEx	HS_OXA1L.
GermOnline	ENSG00000155463. Homo sapiens.
Family and domain databases
InterPro	IPR001708. Innermemb_insert. [Graphical view]
PANTHER	PTHR12428. Innermemb_insert. 1 hit.
Pfam	PF02096. 60KD_IMP. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

OXA1L_HUMAN

Accession

Primary (citable) accession number: Q15070

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	November 14, 2003
Last modified:	November 25, 2008
This is version 68 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)