Reviewed,
UniProtKB/Swiss-Prot Q8N3C0 (HELC1_HUMAN)
Last modified
December 15, 2009.
Version 78.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Activating signal cointegrator 1 complex subunit 3 EC=3.6.1.- Alternative name(s): ASC-1 complex subunit p200 Trip4 complex subunit p200 Helicase, ATP binding 1 | ||||
| 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 | 2202 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Enhances NF-kappa-B, SRF and AP1 transactivation. |
| Subunit structure | Part of TRIP4 complex, that contains ASCC1, ASCC2 and ASCC3. |
| Subcellular location | |
| Tissue specificity | Ubiquitous. |
| Sequence similarities | Belongs to the helicase family. Contains 2 helicase ATP-binding domains. Contains 2 helicase C-terminal domains. Contains 3 SEC63 domains. |
| Sequence caution | The sequence AAG45474.1 differs from that shown. Reason: Frameshift at position 2175. The sequence CAA11679.1 differs from that shown. Reason: Frameshift at position 2175. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Cytoplasm |
| Coding sequence diversity | Polymorphism |
| Domain | Coiled coil Repeat |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Helicase Hydrolase |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome Direct protein sequencing |
| Gene Ontology (GO) | |
| Biological process | regulation of transcription Inferred from electronic annotation. Source: UniProtKB-KW transcriptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATP-dependent helicase activityInferred from electronic annotation. Source: InterPro nucleic acid bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2202 | 2202 | Activating signal cointegrator 1 complex subunit 3 | PRO_0000102093 | |||||
Regions | |||||||||
| Domain | 486 – 669 | 184 | Helicase ATP-binding 1 | ||||||
| Domain | 728 – 914 | 187 | Helicase C-terminal 1 | ||||||
| Domain | 978 – 1287 | 310 | SEC63 1 | ||||||
| Domain | 1336 – 1511 | 176 | Helicase ATP-binding 2 | ||||||
| Domain | 1544 – 1739 | 196 | Helicase C-terminal 2 | ||||||
| Domain | 1812 – 1972 | 161 | SEC63 2 | ||||||
| Domain | 2103 – 2177 | 75 | SEC63 3 | ||||||
| Nucleotide binding | 499 – 506 | 8 | ATP Potential | ||||||
| Nucleotide binding | 1349 – 1356 | 8 | ATP Potential | ||||||
| Coiled coil | 18 – 79 | 62 | Potential | ||||||
| Coiled coil | 328 – 356 | 29 | Potential | ||||||
| Motif | 611 – 614 | 4 | DEVH box | ||||||
| Motif | 1453 – 1456 | 4 | DEIH box | ||||||
Amino acid modifications | |||||||||
| Modified residue | 234 | 1 | Phosphothreonine | ||||||
| Modified residue | 572 | 1 | N6-acetyllysine Ref.7 | ||||||
Natural variations | |||||||||
| Natural variant | 146 | 1 | L → F: dbSNP rs9390698. Ref.1 | VAR_034859 | |||||
| Natural variant | 344 | 1 | E → K: dbSNP rs6918004. | VAR_049339 | |||||
| Natural variant | 478 | 1 | N → S: dbSNP rs7750940. | VAR_049340 | |||||
| Natural variant | 1016 | 1 | S → C: dbSNP rs57534235. | VAR_061212 | |||||
| Natural variant | 1050 | 1 | V → I: dbSNP rs9497983. | VAR_034860 | |||||
| Natural variant | 1425 | 1 | V → A: dbSNP rs17246013. | VAR_049341 | |||||
| Natural variant | 1497 | 1 | R → T: dbSNP rs17305382. | VAR_049342 | |||||
| Natural variant | 1800 | 1 | C → W: dbSNP rs35011147. | VAR_034861 | |||||
| Natural variant | 1930 | 1 | V → M: dbSNP rs3213542. | VAR_034862 | |||||
| Natural variant | 1995 | 1 | S → C: dbSNP rs240780. Ref.3 Ref.4 | VAR_034863 | |||||
| Natural variant | 2176 | 1 | Y → C: dbSNP rs240768. | VAR_034864 | |||||
Experimental info | |||||||||
| Sequence conflict | 269 – 277 | 9 | Missing Ref.2 | ||||||
| Sequence conflict | 444 | 1 | P → S in CAD39122. Ref.1 | ||||||
| Sequence conflict | 750 | 1 | P → S in CAD39122. Ref.1 | ||||||
| Sequence conflict | 1343 | 1 | C → S in AAG45474. Ref.3 | ||||||
| Sequence conflict | 1343 | 1 | C → S in CAA11679. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT PHE-146. Tissue: Melanoma. |
| [2] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "Novel transcription coactivator complex containing activating signal cointegrator 1." Jung D.-J., Sung H.-S., Goo Y.-W., Lee H.M., Park O.K., Jung S.-Y., Lim J., Kim H.-J., Lee S.-K., Kim T.S., Lee J.W., Lee Y.C. Mol. Cell. Biol. 22:5203-5211(2002) [PubMed: 12077347] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 277-2202, PARTIAL PROTEIN SEQUENCE, VARIANT CYS-1995, INTERACTION WITH ASCC1 AND ASCC2. Tissue: Cervix carcinoma. |
| [4] | "The immunodominant antigen recognized by autologous CTL on a human melanoma is generated by a point mutation in a new member of the RNA helicase gene family." Baurain J.-F. Submitted (FEB-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1425-2202, VARIANT CYS-1995. Tissue: Melanoma. |
| [5] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [6] | "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 THR-234, MASS SPECTROMETRY. |
| [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., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-572, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AL834463 mRNA. Translation: CAD39122.1. AL591585 Z86062 Genomic DNA. Translation: CAH73862.1. AL356122 Z86062 Genomic DNA. Translation: CAI16190.1. Z86062 AL591585 Genomic DNA. Translation: CAI19454.1. AL121965 Z86062 Genomic DNA. Translation: CAI19627.1. AL133338 Z86062 Genomic DNA. Translation: CAI21439.1. AY013288 mRNA. Translation: AAG45474.1. Frameshift. AJ223948 mRNA. Translation: CAA11679.1. Frameshift. | |
| IPI | IPI00430472. |
| RefSeq | NP_006819.2. |
| UniGene | Hs.486031 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q8N3C0. |
PTM databases | |
| PhosphoSite | Q8N3C0. |
Proteomic databases | |
| PRIDE | Q8N3C0. |
Genome annotation databases | |
| Ensembl | ENST00000324696; ENSP00000320252; ENSG00000112249; Homo sapiens. [Genome view] |
| GeneID | 10973. |
| KEGG | hsa:10973. |
| UCSC | uc003pqk.1. human. |
Organism-specific databases | |
| CTD | 10973. |
| GeneCards | GC06M101063. |
| HGNC | HGNC:18697. ASCC3. |
| PharmGKB | PA134890913. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | HBG736699. |
| HOVERGEN | Q8N3C0. |
| InParanoid | Q8N3C0. |
| OMA | QRSRNKQ. |
Gene expression databases | |
| ArrayExpress | Q8N3C0. |
| Bgee | Q8N3C0. |
| CleanEx | HS_ASCC3. |
| Genevestigator | Q8N3C0. |
| GermOnline | ENSG00000112249. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR003593. ATPase_AAA+_core. IPR014001. DEAD-like_N. IPR001650. DNA/RNA_helicase_C. IPR011545. DNA/RNA_helicase_DEAD/DEAH_N. IPR014021. Helicase_SF1/SF2_ATP-bd. IPR004179. Sec63-dom. IPR018127. Sec63-dom_subgr. [Graphical view] |
| Pfam | PF00270. DEAD. 2 hits. PF00271. Helicase_C. 2 hits. PF02889. Sec63. 3 hits. [Graphical view] |
| SMART | SM00382. AAA. 2 hits. SM00487. DEXDc. 2 hits. SM00490. HELICc. 2 hits. SM00611. SEC63. 2 hits. [Graphical view] |
| PROSITE | PS51192. HELICASE_ATP_BIND_1. 2 hits. PS51194. HELICASE_CTER. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 41694. |
Entry information
| Entry name | HELC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8N3C0 Secondary accession number(s): O43738 Q9NTR0 | ||||||||
| 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 6 Human chromosome 6: 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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