Reviewed,
UniProtKB/Swiss-Prot Q5THK1 (CV030_HUMAN)
Last modified
November 24, 2009.
Version 36.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Uncharacterized protein C22orf30 | ||
| 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 | 2151 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.5 Ref.6 |
| Sequence caution | The sequence BAB15536.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB15536.1 differs from that shown. Reason: Frameshift at position 1174. The sequence CAI22445.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q5THK1-1) 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: Q5THK1-2) The sequence of this isoform differs from the canonical sequence as follows: 2001-2151: AEPEKRPKKV...EEEQEQSSGC → VKEEGV | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q5THK1-3) The sequence of this isoform differs from the canonical sequence as follows: 1234-1239: SLKSIE → SPCLTT 1240-2151: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q5THK1-4) The sequence of this isoform differs from the canonical sequence as follows: 2061-2151: CLETIFEEPK...EEEQEQSSGC → DLDSSCPSTD...TWAGRGDSSL | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2151 | 2151 | Uncharacterized protein C22orf30 | PRO_0000295739 | |||||
Amino acid modifications | |||||||||
| Modified residue | 157 | 1 | Phosphoserine Ref.5 | ||||||
| Modified residue | 1029 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 1994 | 1 | Phosphoserine | ||||||
Natural variations | |||||||||
| Alternative sequence | 1234 – 1239 | 6 | SLKSIE → SPCLTT in isoform 3. | VSP_027046 | |||||
| Alternative sequence | 1240 – 2151 | 912 | Missing in isoform 3. | VSP_027047 | |||||
| Alternative sequence | 2001 – 2151 | 151 | AEPEK…QSSGC → VKEEGV in isoform 2. | VSP_027048 | |||||
| Alternative sequence | 2061 – 2151 | 91 | CLETI…QSSGC → DLDSSCPSTDSETGHFLVFG YAQRQAQPHPLLASRRLIGC SSPEGRGHPRSYPYWRRLLV LCWYLPGWRAGRVTWLRLAT WAGRGDSSL in isoform 4. | VSP_027049 | |||||
| Natural variant | 455 | 1 | N → S: dbSNP rs140081. | VAR_059641 | |||||
| Natural variant | 740 | 1 | L → P: dbSNP rs140080. | VAR_059642 | |||||
| Natural variant | 876 | 1 | M → I: dbSNP rs17821493. | VAR_059643 | |||||
| Natural variant | 961 | 1 | T → I: dbSNP rs140079. | VAR_059644 | |||||
| Natural variant | 963 | 1 | D → N: dbSNP rs9619227. | VAR_059645 | |||||
| Natural variant | 1151 | 1 | S → P: dbSNP rs12159328. | VAR_059646 | |||||
| Natural variant | 1221 | 1 | S → L: dbSNP rs140078. | VAR_059647 | |||||
| Natural variant | 1395 | 1 | L → F: dbSNP rs3804090. | VAR_059648 | |||||
| Natural variant | 1784 | 1 | V → I: dbSNP rs16989427. | VAR_059649 | |||||
Experimental info | |||||||||
| Sequence conflict | 885 | 1 | I → N in BAB15536. Ref.3 | ||||||
| Sequence conflict | 1223 | 1 | S → F in BAB15536. Ref.3 | ||||||
Sequences
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References
| [1] | "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. Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [2] | "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]. |
| [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 619-2151 (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1332-2151 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1945-2151 (ISOFORM 1). Tissue: Adrenal gland, Lung and Uterus. |
| [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] OF 1699-2151 (ISOFORM 4). Tissue: Uterus. |
| [5] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-157, MASS SPECTROMETRY. |
| [6] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1029, MASS SPECTROMETRY. |
| [7] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1029 AND SER-1994, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| CT841517 mRNA. Translation: CAJ86447.1. AL031255, AC005004 Genomic DNA. Translation: CAI22445.1. Sequence problems. AL031255, AC005004 Genomic DNA. Translation: CAI22448.1. AK026712 mRNA. Translation: BAB15536.1. Sequence problems. AK123082 mRNA. Translation: BAC85533.1. Different initiation. AK130944 mRNA. Translation: BAC85470.1. Different initiation. BC040859 mRNA. Translation: AAH40859.1. Different initiation. | |
| IPI | IPI00217178. IPI00643747. IPI00852797. IPI00854670. |
| RefSeq | NP_775837.2. |
| UniGene | Hs.438906 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q5THK1. |
Proteomic databases | |
| PRIDE | Q5THK1. |
Genome annotation databases | |
| Ensembl | ENST00000327423; ENSP00000331845; ENSG00000183530; Homo sapiens. [Genome view] |
| GeneID | 253143. |
| KEGG | hsa:253143. |
| UCSC | uc003alo.1. human. uc003alp.2. human. uc010gwj.1. human. |
Organism-specific databases | |
| CTD | 253143. |
| GeneCards | GC22M030402. |
| HGNC | HGNC:28738. C22orf30. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q5THK1. |
| HOVERGEN | Q5THK1. |
Gene expression databases | |
| ArrayExpress | Q5THK1. |
| Bgee | Q5THK1. |
| CleanEx | HS_C22orf30. |
| Genevestigator | Q5THK1. |
Family and domain databases | |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 92063. |
Entry information
| Entry name | CV030_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5THK1 Secondary accession number(s): Q5THK4 Q9H5T4 | ||||||||
| 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 |

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