Reviewed,
UniProtKB/Swiss-Prot Q96LR9 (APLD1_HUMAN)
Last modified
November 24, 2009.
Version 51.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Apolipoprotein L domain-containing protein 1 Alternative name(s): Vascular early response gene protein | ||||
| Gene names |
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| 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 | 279 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | May be involved in angiogenesis. May play a role in activity-dependent changes of brain vasculature. May affect blood-brain permeability. Ref.4 |
| Subcellular location | Cell membrane; Multi-pass membrane protein Probable. |
| Tissue specificity | Expressed in neonatal dermal microvascular endothelial cells. Ref.4 |
| Induction | In neonatal dermal microvascular endothelial cells, by hypoxia. Ref.4 |
| Sequence similarities | Belongs to the apolipoprotein L family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Angiogenesis Differentiation |
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing |
| Domain | Coiled coil Transmembrane |
| Molecular function | Developmental protein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | angiogenesis Inferred from electronic annotation. Source: UniProtKB-KW cell differentiationInferred from electronic annotation. Source: UniProtKB-KW lipid transportInferred from electronic annotation. Source: InterPro lipoprotein metabolic processInferred from electronic annotation. Source: InterPro |
| Cellular component | extracellular region Inferred from electronic annotation. Source: InterPro integral to membraneInferred from electronic annotation. Source: UniProtKB-SubCell plasma membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | lipid binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96LR9-1) 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. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 2 (identifier: Q96LR9-2) The sequence of this isoform differs from the canonical sequence as follows: 2-32: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 279 | 279 | Apolipoprotein L domain-containing protein 1 | PRO_0000247275 | |||||
Regions | |||||||||
| Transmembrane | 83 – 105 | 23 | Potential | ||||||
| Transmembrane | 122 – 142 | 21 | Potential | ||||||
| Transmembrane | 192 – 212 | 21 | Potential | ||||||
| Coiled coil | 226 – 253 | 28 | Potential | ||||||
| Compositional bias | 3 – 82 | 80 | Arg-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 2 – 32 | 31 | Missing in isoform 2. | VSP_019960 | |||||
Experimental info | |||||||||
| Sequence conflict | 64 | 1 | G → R in CAB66717. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis. |
| [2] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [3] | "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: Eye. |
| [4] | "Verge: a novel vascular early response gene." Regard J.B., Scheek S., Borbiev T., Lanahan A.A., Schneider A., Demetriades A.-M., Hiemisch H., Barnes C.A., Verin A.D., Worley P.F. J. Neurosci. 24:4092-4103(2004) [PubMed: 15102925] [Abstract] Cited for: FUNCTION, INDUCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION. |
Cross-references
Sequence databases | |
|---|---|
| AL136783 mRNA. Translation: CAB66717.1. AK057867 mRNA. Translation: BAB71601.1. BC042478 mRNA. Translation: AAH42478.1. Different initiation. | |
| IPI | IPI00238434. IPI00477218. |
| RefSeq | NP_001123887.1. NP_110444.3. |
| UniGene | Hs.23388 Hs.714715 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q96LR9. |
Proteomic databases | |
| PRIDE | Q96LR9. |
Genome annotation databases | |
| Ensembl | ENST00000326765; ENSP00000324277; ENSG00000178878; Homo sapiens. [Genome view] |
| GeneID | 81575. |
| KEGG | hsa:81575. |
| UCSC | uc001rau.2. human. uc001raw.2. human. |
Organism-specific databases | |
| CTD | 81575. |
| GeneCards | GC12P012777. |
| HGNC | HGNC:25268. APOLD1. |
| MIM | 612456. gene. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q96LR9. |
| OMA | TFPCLGK |
| OrthoDB | EOG9M3CTR |
Gene expression databases | |
| ArrayExpress | Q96LR9. |
| Bgee | Q96LR9. |
| Genevestigator | Q96LR9. |
| GermOnline | ENSG00000178878. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008405. ApoL. [Graphical view] |
| PANTHER | PTHR14096. ApoL. 1 hit. |
| ProtoNet | Search... |
Other Resources | |
| SOURCE | Search... |
Entry information
| Entry name | APLD1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96LR9 Secondary accession number(s): Q8IVR2, Q9H0I5 | ||||||||
| 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 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

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