Q709C8 (VP13C_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 72.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Vacuolar protein sorting-associated protein 13C | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference 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 | 3753 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Tissue specificity | Widely expressed. Ref.1 |
| Sequence similarities | Belongs to the VPS13 family. |
| Sequence caution | The sequence BAA90972.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA92659.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| PTM | Acetylation Isopeptide bond Phosphoprotein Ubl conjugation |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 Ref.1 (identifier: Q709C8-1) Also known as: 2A; 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 Ref.1 (identifier: Q709C8-2) Also known as: 2B; The sequence of this isoform differs from the canonical sequence as follows: 3622-3627: NHIKKL → QELEIQE 3628-3753: Missing. | ||||||
| Isoform 3 Ref.1 (identifier: Q709C8-3) Also known as: 1A; The sequence of this isoform differs from the canonical sequence as follows: 129-171: Missing. | ||||||
| Isoform 4 Ref.1 (identifier: Q709C8-4) Also known as: 1B; The sequence of this isoform differs from the canonical sequence as follows: 129-171: Missing. 3622-3627: NHIKKL → QELEIQE 3628-3753: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 3753 | 3753 | Vacuolar protein sorting-associated protein 13C | PRO_0000262949 | |||||
Regions | |||||||||
| Compositional bias | 145 – 179 | 35 | Lys-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 614 | 1 | Phosphothreonine Ref.6 | ||||||
| Modified residue | 619 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 624 | 1 | Phosphothreonine Ref.6 | ||||||
| Modified residue | 737 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 1437 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 1979 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 3538 | 1 | N6-acetyllysine Ref.7 | ||||||
| Cross-link | 2357 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.5 | |||||||
Natural variations | |||||||||
| Alternative sequence | 129 – 171 | 43 | Missing in isoform 3 and isoform 4. Ref.1 | VSP_052243 | |||||
| Alternative sequence | 3622 – 3627 | 6 | NHIKKL → QELEIQE in isoform 2 and isoform 4. Ref.1 | VSP_052244 | |||||
| Alternative sequence | 3628 – 3753 | 126 | Missing in isoform 2 and isoform 4. Ref.1 | VSP_052245 | |||||
| Natural variant | 153 | 1 | R → H. Corresponds to variant rs12595158 [ dbSNP | Ensembl ]. | VAR_029548 | |||||
| Natural variant | 974 | 1 | R → K. Ref.2 Corresponds to variant rs3784634 [ dbSNP | Ensembl ]. | VAR_029549 | |||||
| Natural variant | 1132 | 1 | I → V. Corresponds to variant rs3784635 [ dbSNP | Ensembl ]. | VAR_029550 | |||||
| Natural variant | 1302 | 1 | Y → C. Corresponds to variant rs2303405 [ dbSNP | Ensembl ]. | VAR_029551 | |||||
| Natural variant | 1485 | 1 | T → A. Corresponds to variant rs8026956 [ dbSNP | Ensembl ]. | VAR_029552 | |||||
| Natural variant | 1495 | 1 | I → V. Corresponds to variant rs11629598 [ dbSNP | Ensembl ]. | VAR_029553 | |||||
| Natural variant | 1592 | 1 | S → Y. Corresponds to variant rs11629838 [ dbSNP | Ensembl ]. | VAR_029554 | |||||
| Natural variant | 2322 | 1 | V → M. Corresponds to variant rs12907567 [ dbSNP | Ensembl ]. | VAR_029555 | |||||
| Natural variant | 2808 | 1 | K → R. Corresponds to variant rs34060567 [ dbSNP | Ensembl ]. | VAR_053808 | |||||
| Natural variant | 2913 | 1 | S → N. Corresponds to variant rs10851704 [ dbSNP | Ensembl ]. | VAR_029556 | |||||
Sequences
| ||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Analysis of the human VPS13 gene family." Velayos-Baeza A., Vettori A., Copley R.R., Dobson-Stone C., Monaco A.P. Genomics 84:536-549(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), TISSUE SPECIFICITY. Tissue: Lymphoblast. |
| [2] | "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1439 (ISOFORMS 1/2), VARIANT LYS-974. Tissue: Brain. |
| [3] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3305-3753 (ISOFORMS 1/3). Tissue: Colon. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3305-3753 (ISOFORMS 1/3). |
| [5] | "Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry." Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D. Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract] Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-2357, MASS SPECTROMETRY. Tissue: Mammary cancer. |
| [6] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-614; SER-619; THR-624 AND SER-737, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [7] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-3538, MASS SPECTROMETRY. |
| [8] | "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 | AJ608770 mRNA. Translation: CAE75582.1. AJ608771 mRNA. Translation: CAE75583.1. AJ626860 mRNA. Translation: CAF25187.1. AJ626861 mRNA. Translation: CAF25188.1. AB037842 mRNA. Translation: BAA92659.1. Different initiation. AK000143 mRNA. Translation: BAA90972.1. Different initiation. BC069387 mRNA. Translation: AAH69387.1. |
| IPI | IPI00412216. IPI00465428. IPI00604778. IPI00797358. |
| RefSeq | NP_001018098.1. NM_001018088.2. NP_060154.3. NM_017684.4. NP_060550.2. NM_018080.3. NP_065872.1. NM_020821.2. |
| UniGene | Hs.511668. |
3D structure databases | |
| ProteinModelPortal | Q709C8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q709C8. 2 interactions. |
| STRING | 9606.ENSP00000261517. |
PTM databases | |
| PhosphoSite | Q709C8. |
Polymorphism databases | |
| DMDM | 74712594. |
Proteomic databases | |
| PaxDb | Q709C8. |
| PRIDE | Q709C8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000249837; ENSP00000249837; ENSG00000129003. ENST00000261517; ENSP00000261517; ENSG00000129003. ENST00000395896; ENSP00000379233; ENSG00000129003. ENST00000395898; ENSP00000379235; ENSG00000129003. |
| GeneID | 54832. |
| KEGG | hsa:54832. |
| UCSC | uc002agz.3. human. uc002aha.3. human. uc002ahb.2. human. uc002ahc.2. human. |
Organism-specific databases | |
| CTD | 54832. |
| GeneCards | GC15M062144. |
| HGNC | HGNC:23594. VPS13C. |
| HPA | HPA043356. HPA043507. |
| MIM | 608879. gene. |
| neXtProt | NX_Q709C8. |
| PharmGKB | PA134990089. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5043. |
| HOVERGEN | HBG079736. |
| InParanoid | Q709C8. |
| OMA | KAYDKFD. |
Gene expression databases | |
| ArrayExpress | Q709C8. |
| Bgee | Q709C8. |
| CleanEx | HS_VPS13C. |
| Genevestigator | Q709C8. |
| GermOnline | ENSG00000129003. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR015412. Autophagy-rel_C. IPR026847. VPS13. IPR026854. VPS13A_N. IPR009543. VPSAP_dom. [Graphical view] |
| PANTHER | PTHR16166. PTHR16166. 1 hit. |
| Pfam | PF09333. ATG_C. 1 hit. PF12624. Chorein_N. 1 hit. PF06650. DUF1162. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | VPS13C. human. |
| GenomeRNAi | 54832. |
| NextBio | 57616. |
| SOURCE | Search... |
Entry information
| Entry name | VP13C_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q709C8 Secondary accession number(s): Q6ISR4 Q9P2C6 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 15 Human chromosome 15: 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
