Q8N3C0 (ASCC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 110.
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: Activating signal cointegrator 1 complex subunit 3 EC=3.6.4.12 Alternative name(s): ASC-1 complex subunit p200 Short name=ASC1p200 Helicase, ATP binding 1 Trip4 complex subunit p200 | ||||
| Gene names |
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| 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 | 2202 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 3'-5' DNA helicase involved in repair of alkylated DNA. Promotes DNA unwinding to generate single-stranded substrate needed for ALKHB3, enabling ALKHB3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions. Enhances NF-kappa-B, SRF and AP1 transactivation. Ref.10 |
| Catalytic activity | ATP + H2O = ADP + phosphate. Ref.10 |
| Subunit structure | Part of TRIP4 complex, that contains ASCC1, ASCC2 and ASCC3. The TRIP4 complex interacts with ALKBH3. Ref.6 Ref.10 |
| 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 2 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: Erroneous initiation. Translation N-terminally extended. The sequence CAA11679.1 differs from that shown. Reason: Frameshift at position 2175. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8N3C0-1) 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: Q8N3C0-3) The sequence of this isoform differs from the canonical sequence as follows: 81-111: VGTDNGREAIESGAAFLFMTFHLKDSVGHKE → EVNCPFQKRRLDGKEEDEKMSRASDRFRGLR 112-2202: Missing. | ||||||
| Isoform 3 (identifier: Q8N3C0-4) The sequence of this isoform differs from the canonical sequence as follows: 719-731: MVFVHARNATVRT → HLFYLLLHLFICF 732-2202: Missing. |
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 – 2176 | 365 | SEC63 2 | ||||||
| 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 | 572 | 1 | N6-acetyllysine Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 81 – 111 | 31 | VGTDN…VGHKE → EVNCPFQKRRLDGKEEDEKM SRASDRFRGLR in isoform 2. | VSP_042955 | |||||
| Alternative sequence | 112 – 2202 | 2091 | Missing in isoform 2. | VSP_042956 | |||||
| Alternative sequence | 719 – 731 | 13 | MVFVH…ATVRT → HLFYLLLHLFICF in isoform 3. | VSP_042957 | |||||
| Alternative sequence | 732 – 2202 | 1471 | Missing in isoform 3. | VSP_042958 | |||||
| Natural variant | 146 | 1 | L → F. Ref.1 Corresponds to variant rs9390698 [ dbSNP | Ensembl ]. | VAR_034859 | |||||
| Natural variant | 344 | 1 | E → K. Corresponds to variant rs6918004 [ dbSNP | Ensembl ]. | VAR_049339 | |||||
| Natural variant | 478 | 1 | N → S. Corresponds to variant rs7750940 [ dbSNP | Ensembl ]. | VAR_049340 | |||||
| Natural variant | 1016 | 1 | S → C. Corresponds to variant rs57534235 [ dbSNP | Ensembl ]. | VAR_061212 | |||||
| Natural variant | 1050 | 1 | V → I. Corresponds to variant rs9497983 [ dbSNP | Ensembl ]. | VAR_034860 | |||||
| Natural variant | 1425 | 1 | V → A. Corresponds to variant rs17246013 [ dbSNP | Ensembl ]. | VAR_049341 | |||||
| Natural variant | 1497 | 1 | R → T. Corresponds to variant rs17305382 [ dbSNP | Ensembl ]. | VAR_049342 | |||||
| Natural variant | 1800 | 1 | C → W. Corresponds to variant rs35011147 [ dbSNP | Ensembl ]. | VAR_034861 | |||||
| Natural variant | 1930 | 1 | V → M. Corresponds to variant rs3213542 [ dbSNP | Ensembl ]. | VAR_034862 | |||||
| Natural variant | 1995 | 1 | S → C. Ref.6 Ref.7 Corresponds to variant rs240780 [ dbSNP | Ensembl ]. | VAR_034863 | |||||
| Natural variant | 2176 | 1 | Y → C. Corresponds to variant rs240768 [ dbSNP | Ensembl ]. | VAR_034864 | |||||
Experimental info | |||||||||
| Mutagenesis | 1354 | 1 | G → D: Abolishes 3'-5' DNA helicase activity and ability to promote DNA repair. Ref.10 | ||||||
| Sequence conflict | 86 | 1 | G → E in AAH26066. Ref.5 | ||||||
| Sequence conflict | 269 – 277 | 9 | Missing in CAH73862. Ref.2 | ||||||
| Sequence conflict | 269 – 277 | 9 | Missing in CAI16190. Ref.2 | ||||||
| Sequence conflict | 269 – 277 | 9 | Missing in CAI19454. Ref.2 | ||||||
| Sequence conflict | 269 – 277 | 9 | Missing in CAI19627. Ref.2 | ||||||
| Sequence conflict | 269 – 277 | 9 | Missing in CAI21439. Ref.2 | ||||||
| Sequence conflict | 444 | 1 | P → S in CAD39122. Ref.1 | ||||||
| Sequence conflict | 582 | 1 | V → A in AAH26066. Ref.5 | ||||||
| Sequence conflict | 750 | 1 | P → S in CAD39122. Ref.1 | ||||||
| Sequence conflict | 1187 | 1 | S → F in CAA11679. Ref.7 | ||||||
| Sequence conflict | 1343 | 1 | C → S in CAA11679. Ref.7 | ||||||
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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PHE-146. Tissue: Melanoma. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Thymus. |
| [3] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] (ISOFORMS 2 AND 3). Tissue: Skin and Testis. |
| [6] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 277-2202, PARTIAL PROTEIN SEQUENCE, VARIANT CYS-1995, INTERACTION WITH ASCC1 AND ASCC2. Tissue: Cervix carcinoma. |
| [7] | "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 1012-2202, VARIANT CYS-1995. Tissue: Melanoma. |
| [8] | "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-572, MASS SPECTROMETRY. |
| [9] | "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]. |
| [10] | "DNA unwinding by ASCC3 helicase is coupled to ALKBH3-dependent DNA alkylation repair and cancer cell proliferation." Dango S., Mosammaparast N., Sowa M.E., Xiong L.J., Wu F., Park K., Rubin M., Gygi S., Harper J.W., Shi Y. Mol. Cell 44:373-384(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, CATALYTIC ACTIVITY, INTERACTION WITH ALKBH3, MUTAGENESIS OF GLY-1354. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AL834463 mRNA. Translation: CAD39122.1. AK315197 mRNA. Translation: BAG37637.1. 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.AL133338 Genomic DNA. Translation: CAC07337.1. CH471051 Genomic DNA. Translation: EAW48449.1. BC050681 mRNA. Translation: AAH50681.1. BC125211 mRNA. Translation: AAI25212.1. BC125212 mRNA. Translation: AAI25213.1. BC026066 mRNA. Translation: AAH26066.1. AY013288 mRNA. Translation: AAG45474.1. Frameshift. AJ223948 mRNA. Translation: CAA11679.1. Sequence problems. |
| IPI | IPI00430472. |
| RefSeq | NP_006819.2. NM_006828.2. NP_071374.1. NM_022091.3. |
| UniGene | Hs.486031. |
3D structure databases | |
| ProteinModelPortal | Q8N3C0. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8N3C0. 6 interactions. |
| MINT | MINT-1183138. |
| STRING | 9606.ENSP00000320252. |
PTM databases | |
| PhosphoSite | Q8N3C0. |
Polymorphism databases | |
| DMDM | 158518649. |
Proteomic databases | |
| PaxDb | Q8N3C0. |
| PRIDE | Q8N3C0. |
Protocols and materials databases | |
| DNASU | 10973. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000369143; ENSP00000358139; ENSG00000112249. ENST00000369162; ENSP00000358159; ENSG00000112249. ENST00000522650; ENSP00000430769; ENSG00000112249. |
| GeneID | 10973. |
| KEGG | hsa:10973. |
| UCSC | uc003pqk.3. human. |
Organism-specific databases | |
| CTD | 10973. |
| GeneCards | GC06M100956. |
| H-InvDB | HIX0021958. |
| HGNC | HGNC:18697. ASCC3. |
| HPA | HPA031608. HPA031609. HPA031610. |
| MIM | 614217. gene. |
| neXtProt | NX_Q8N3C0. |
| PharmGKB | PA134890913. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1204. |
| HOGENOM | HOG000152625. |
| HOVERGEN | HBG051896. |
| InParanoid | Q8N3C0. |
| KO | K01529. |
| OMA | FPGKHYC. |
| PhylomeDB | Q8N3C0. |
Gene expression databases | |
| ArrayExpress | Q8N3C0. |
| Bgee | Q8N3C0. |
| CleanEx | HS_ASCC3. |
| Genevestigator | Q8N3C0. |
| GermOnline | ENSG00000112249. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR003593. AAA+_ATPase. IPR011545. DNA/RNA_helicase_DEAD/DEAH_N. IPR014001. Helicase_ATP-bd. IPR001650. Helicase_C. IPR004179. Sec63-dom. [Graphical view] |
| Pfam | PF00270. DEAD. 2 hits. PF00271. Helicase_C. 2 hits. PF02889. Sec63. 2 hits. [Graphical view] |
| SMART | SM00382. AAA. 2 hits. SM00487. DEXDc. 2 hits. SM00490. HELICc. 2 hits. SM00611. SEC63. 2 hits. SM00973. Sec63. 2 hits. [Graphical view] |
| PROSITE | PS51192. HELICASE_ATP_BIND_1. 2 hits. PS51194. HELICASE_CTER. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ASCC3. human. |
| GenomeRNAi | 10973. |
| NextBio | 41694. |
| SOURCE | Search... |
Entry information
| Entry name | ASCC3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8N3C0 Secondary accession number(s): E7EW23 Q9NTR0 | ||||||||
| Entry history |
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| 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 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 |
| 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
