Reviewed,
UniProtKB/Swiss-Prot Q9UJQ1 (CT103_HUMAN)
Last modified
December 15, 2009.
Version 64.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: LAMP family protein C20orf103 | ||
| 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 | 280 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subcellular location | Membrane; Single-pass type I membrane protein Potential. |
| Sequence similarities | Belongs to the LAMP family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal Transmembrane |
| PTM | Glycoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9UJQ1-1) 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: Q9UJQ1-2) The sequence of this isoform differs from the canonical sequence as follows: 80-123: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 29 | 29 | Potential | ||||||
| Chain | 30 – 280 | 251 | LAMP family protein C20orf103 | PRO_0000021031 | |||||
Regions | |||||||||
| Topological domain | 30 – 235 | 206 | Extracellular Potential | ||||||
| Transmembrane | 236 – 256 | 21 | Potential | ||||||
| Topological domain | 257 – 280 | 24 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 35 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 53 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 127 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 80 – 123 | 44 | Missing in isoform 2. | VSP_037186 | |||||
| Natural variant | 12 | 1 | D → G: dbSNP rs2232259. | VAR_014401 | |||||
| Natural variant | 81 | 1 | I → V: dbSNP rs2232263. | VAR_014402 | |||||
| Natural variant | 103 | 1 | Q → E: dbSNP rs2232264. | VAR_014403 | |||||
| Natural variant | 158 | 1 | S → G: dbSNP rs2232266. | VAR_014404 | |||||
Experimental info | |||||||||
| Sequence conflict | 251 | 1 | V → A in BAG58309. Ref.2 | ||||||
Sequences
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References
| [1] | Stavrides G.S., Huckle E.J., Deloukas P. Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [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: Caudate nucleus and Thalamus. |
| [3] | "The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. Rogers J.Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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: Testis. |
Cross-references
Sequence databases | |
|---|---|
| AL121740 mRNA. Translation: CAB57330.1. AK295336 mRNA. Translation: BAG58309.1. AK316114 mRNA. Translation: BAH14485.1. AL031652 Genomic DNA. Translation: CAC18101.1. BC050727 mRNA. Translation: AAH50727.1. | |
| IPI | IPI00016848. IPI00929214. |
| RefSeq | NP_036393.1. |
| UniGene | Hs.22920 |
3D structure databases | |
| ModBase | Search... |
Proteomic databases | |
| PeptideAtlas | Q9UJQ1. |
| PRIDE | Q9UJQ1. |
Genome annotation databases | |
| Ensembl | ENST00000246070; ENSP00000246070; ENSG00000125869; Homo sapiens. [Genome view] |
| GeneID | 24141. |
| KEGG | hsa:24141. |
| UCSC | uc002wni.1. human. |
Organism-specific databases | |
| CTD | 24141. |
| GeneCards | GC20P009443. |
| HGNC | HGNC:16097. C20orf103. |
| PharmGKB | PA25643. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | HBG447205. |
| HOVERGEN | Q9UJQ1. |
| InParanoid | Q9UJQ1. |
| OMA | AEQEVEN. |
| OrthoDB | EOG94J54H. |
Gene expression databases | |
| ArrayExpress | Q9UJQ1. |
| Bgee | Q9UJQ1. |
| CleanEx | HS_C20orf103. |
| Genevestigator | Q9UJQ1. |
| GermOnline | ENSG00000125869. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002000. Lamp. [Graphical view] |
| PANTHER | PTHR11506. Lamp. 1 hit. |
| Pfam | PF01299. Lamp. 1 hit. [Graphical view] |
| PROSITE | PS00310. LAMP_1. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 46821. |
Entry information
| Entry name | CT103_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UJQ1 Secondary accession number(s): B4DHZ7, B7Z9Z9 | ||||||||
| 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 20 Human chromosome 20: 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 |
| SIMILARITY comments Index of protein domains and families |

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