Reviewed,
UniProtKB/Swiss-Prot Q15070 (OXA1L_HUMAN)
Last modified
November 25, 2008.
Version 68.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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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 |
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| 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 | |
| Sequence similarities | Belongs to the OXA1/oxaA family. |
| Sequence caution | The sequence CAA05127.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
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
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References
| « Hide '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 | |
|---|---|
| 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 |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 14 Human chromosome 14: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


