Reviewed,
UniProtKB/Swiss-Prot O95236 (APOL3_HUMAN)
Last modified
November 24, 2009.
Version 77.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Apolipoprotein L3 Alternative name(s): Apolipoprotein L-III Short name=ApoL-III TNF-inducible protein CG12-1 Short name=CG12_1 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 402 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. |
| Subcellular location | Cytoplasm Probable. |
| Tissue specificity | Widely expressed; the highest levels are in prostate, lung and placenta; also detected in kidney, bone marrow, spleen, thymus, spinal cord, adrenal gland, salivary gland, trachea and mammary gland; levels are low in brain, heart, fetal liver, pancreas and testis. |
| Induction | In vitro, is responsive to tumor necrosis factor. |
| Sequence similarities | Belongs to the apolipoprotein L family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Lipid transport Transport |
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | inflammatory response Ref.1 Traceable author statement. Source: ProtInc lipid transportInferred from electronic annotation. Source: UniProtKB-KW lipoprotein metabolic processInferred from electronic annotation. Source: InterPro positive regulation of I-kappaB kinase/NF-kappaB cascadeInferred from mutant phenotype. Source: UniProtKB |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell extracellular regionInferred from electronic annotation. Source: InterPro |
| Molecular function | lipid binding Inferred from electronic annotation. Source: InterPro lipid transporter activity Ref.1Traceable author statement. Source: ProtInc signal transducer activityInferred from mutant phenotype. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O95236-1) 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: O95236-2) The sequence of this isoform differs from the canonical sequence as follows: 1-74: MGLGQGWGWE...CSHSFKRSFL → MDS | ||||||
| Isoform 3 (identifier: O95236-3) The sequence of this isoform differs from the canonical sequence as follows: 1-200: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 402 | 402 | Apolipoprotein L3 | PRO_0000137602 | |||||
Natural variations | |||||||||
| Alternative sequence | 1 – 200 | 200 | Missing in isoform 3. | VSP_000294 | |||||
| Alternative sequence | 1 – 74 | 74 | MGLGQ…KRSFL → MDS in isoform 2. | VSP_000293 | |||||
| Natural variant | 39 | 1 | S → R: dbSNP rs132653. Ref.2 | VAR_053007 | |||||
| Natural variant | 135 | 1 | A → V: dbSNP rs6000152. | VAR_047488 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Vascular endothelial genes that are responsive to tumor necrosis factor-alpha in vitro are expressed in atherosclerotic lesions, including inhibitor of apoptosis protein-1, stannin, and two novel genes." Horrevoets A.J.G., Fontijn R.D., van Zonneveld A.J., de Vries C.J.M., ten Cate J.W., Pannekoek H. Blood 93:3418-3431(1999) [PubMed: 10233894] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Endothelial cell. |
| [2] | "Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene." Duchateau P.N., Pullinger C.R., Cho M.H., Eng C., Kane J.P. J. Lipid Res. 42:620-630(2001) [PubMed: 11290834] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3), VARIANT ARG-39. Tissue: Pancreas. |
| [3] | "The human apolipoprotein L gene cluster: identification, classification, and sites of distribution." Page N.M., Butlin D.J., Lomthaisong K., Lowry P.J. Genomics 74:71-78(2001) [PubMed: 11374903] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Placenta. |
| [4] | "A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [5] | "The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. Wright H.Nature 402:489-495(1999) [PubMed: 10591208] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | 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. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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 2). Tissue: Blood and Testis. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF070675 mRNA. Translation: AAC83233.1. AF324238, AF324233, AF324237 Genomic DNA. Translation: AAK26528.1. AY014904 mRNA. Translation: AAG50346.1. AF324238, AF324236, AF324237 Genomic DNA. Translation: AAK26529.1. AY014902 mRNA. Translation: AAG50344.1. AY014903 mRNA. Translation: AAG50345.1. AY014905 mRNA. Translation: AAG50347.1. AF324238 Genomic DNA. Translation: AAK26527.1. AY014906 mRNA. Translation: AAG50348.1. AY014907 mRNA. Translation: AAG50349.1. AF305227 mRNA. Translation: AAK20213.1. CR456379 mRNA. Translation: CAG30265.1. Z95114 Genomic DNA. Translation: CAQ08518.1. Z95114 Genomic DNA. Translation: CAQ08519.1. CH471095 Genomic DNA. Translation: EAW60080.1. BC042918 mRNA. Translation: AAH42918.1. BC050596 mRNA. Translation: AAH50596.1. | |
| IPI | IPI00157607. IPI00302796. IPI00335164. |
| RefSeq | NP_663615.1. NP_663616.1. NP_663617.1. |
| UniGene | Hs.474737 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | O95236. |
Proteomic databases | |
| PRIDE | O95236. |
Genome annotation databases | |
| Ensembl | ENST00000349314; ENSP00000344577; ENSG00000128284; Homo sapiens. [Genome view] |
| GeneID | 80833. |
| KEGG | hsa:80833. |
| UCSC | uc003aoq.1. human. |
Organism-specific databases | |
| CTD | 80833. |
| GeneCards | GC22M034860. |
| HGNC | HGNC:14868. APOL3. |
| MIM | 607253. gene. |
| PharmGKB | PA24906. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | O95236. |
| HOVERGEN | O95236. |
| OMA | TIGSEIR |
Gene expression databases | |
| ArrayExpress | O95236. |
| Bgee | O95236. |
| CleanEx | HS_APOL3. |
| Genevestigator | O95236. |
| GermOnline | ENSG00000128284. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008405. ApoL. [Graphical view] |
| PANTHER | PTHR14096. ApoL. 1 hit. |
| Pfam | PF05461. ApoL. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 71256. |
| SOURCE | Search... |
Entry information
| Entry name | APOL3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O95236 Secondary accession number(s): B1AHI4 Q9BQA3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: 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


