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ASCC2 activating signal cointegrator 1 complex subunit 2 [ Homo sapiens (human) ]

Gene ID: 84164, updated on 6-Jan-2019

Summary

Official Symbol
ASCC2provided by HGNC
Official Full Name
activating signal cointegrator 1 complex subunit 2provided by HGNC
Primary source
HGNC:HGNC:24103
See related
Ensembl:ENSG00000100325 MIM:614216
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p100; ASC1p100
Expression
Ubiquitous expression in bone marrow (RPKM 13.0), testis (RPKM 12.7) and 25 other tissues See more
Orthologs

Genomic context

See ASCC2 in Genome Data Viewer
Location:
22q12.2
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (29788608..29838304, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30184597..30234293, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene calcium binding protein 7 Neighboring gene zinc finger matrin-type 5 Neighboring gene ubiquinol-cytochrome c reductase, complex III subunit X Neighboring gene RNA, U6 small nuclear 331, pseudogene Neighboring gene myotubularin related protein 3 Neighboring gene RNA, U5F small nuclear 5, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.
NHGRI GWA Catalog

Pathways from BioSystems

  • ALKBH3 mediated reversal of alkylation damage, organism-specific biosystem (from REACTOME)
    ALKBH3 mediated reversal of alkylation damage, organism-specific biosystemALKBH3, like ALKBH2, is a homolog of E.coli alpha-ketoglutarate- and Fe(II)-dependent dioxygenase AlkB that oxidizes methyl groups on alkylated DNA bases and releases them as formaldehyde. Like ALKBH...
  • DNA Damage Reversal, organism-specific biosystem (from REACTOME)
    DNA Damage Reversal, organism-specific biosystemDNA damage can be directly reversed by dealkylation (Mitra and Kaina 1993). Three enzymes play a major role in reparative DNA dealkylation: MGMT, ALKBH2 and ALKBH3. MGMT dealkylates O-6-methylguanine...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Reversal of alkylation damage by DNA dioxygenases, organism-specific biosystem (from REACTOME)
    Reversal of alkylation damage by DNA dioxygenases, organism-specific biosystemDNA in cells is susceptible to different types of cytotoxic and mutagenic damage caused by alkylating agents. These genotoxic chemicals generate major lesions like 1-methyladenine, 3-methyladenine, 3...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
DNA dealkylation involved in DNA repair TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
activating signal cointegrator 1 complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
activating signal cointegrator 1 complex subunit 2
Names
ASC-1 complex subunit P100
trip4 complex subunit p100

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001242906.1NP_001229835.1  activating signal cointegrator 1 complex subunit 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks a coding exon and uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AA765659, AK303257, BP201867, BQ017078, BU508026
    Consensus CDS
    CCDS56226.1
    UniProtKB/Swiss-Prot
    Q9H1I8
    Related
    ENSP00000437570.1, ENST00000542393.5
    Conserved Domains (1) summary
    cd14364
    Location:393432
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  2. NM_032204.5NP_115580.2  activating signal cointegrator 1 complex subunit 2 isoform 1

    See identical proteins and their annotated locations for NP_115580.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC025368, BP201867
    Consensus CDS
    CCDS13869.1
    UniProtKB/Swiss-Prot
    Q9H1I8
    UniProtKB/TrEMBL
    A0A024R1F9
    Related
    ENSP00000305502.3, ENST00000307790.7
    Conserved Domains (1) summary
    cd14364
    Location:469508
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    29788608..29838304 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029008.1XP_016884497.1  activating signal cointegrator 1 complex subunit 2 isoform X13

    UniProtKB/TrEMBL
    A0A024R1E1
    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  2. XM_011530454.2XP_011528756.1  activating signal cointegrator 1 complex subunit 2 isoform X12

    See identical proteins and their annotated locations for XP_011528756.1

    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  3. XM_017029000.1XP_016884489.1  activating signal cointegrator 1 complex subunit 2 isoform X7

    UniProtKB/Swiss-Prot
    Q9H1I8
    UniProtKB/TrEMBL
    A0A024R1F9
    Conserved Domains (1) summary
    cd14364
    Location:469508
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  4. XM_011530445.2XP_011528747.1  activating signal cointegrator 1 complex subunit 2 isoform X5

    See identical proteins and their annotated locations for XP_011528747.1

    Conserved Domains (1) summary
    cd14364
    Location:469508
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  5. XM_005261775.3XP_005261832.1  activating signal cointegrator 1 complex subunit 2 isoform X7

    See identical proteins and their annotated locations for XP_005261832.1

    UniProtKB/Swiss-Prot
    Q9H1I8
    UniProtKB/TrEMBL
    A0A024R1F9
    Related
    ENSP00000380877.2, ENST00000397771.6
    Conserved Domains (1) summary
    cd14364
    Location:469508
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  6. XM_011530442.3XP_011528744.1  activating signal cointegrator 1 complex subunit 2 isoform X5

    See identical proteins and their annotated locations for XP_011528744.1

    Conserved Domains (1) summary
    cd14364
    Location:469508
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  7. XM_024452292.1XP_024308060.1  activating signal cointegrator 1 complex subunit 2 isoform X12

    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  8. XM_024452293.1XP_024308061.1  activating signal cointegrator 1 complex subunit 2 isoform X13

    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  9. XM_017029004.1XP_016884493.1  activating signal cointegrator 1 complex subunit 2 isoform X11

    Conserved Domains (1) summary
    cd14364
    Location:391430
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  10. XM_017029002.1XP_016884491.1  activating signal cointegrator 1 complex subunit 2 isoform X10

    Conserved Domains (1) summary
    cd14364
    Location:416455
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  11. XM_011530449.2XP_011528751.1  activating signal cointegrator 1 complex subunit 2 isoform X9

    See identical proteins and their annotated locations for XP_011528751.1

    Conserved Domains (1) summary
    cd14364
    Location:416455
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  12. XM_011530446.2XP_011528748.1  activating signal cointegrator 1 complex subunit 2 isoform X5

    See identical proteins and their annotated locations for XP_011528748.1

    Conserved Domains (1) summary
    cd14364
    Location:469508
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  13. XM_017029007.1XP_016884496.1  activating signal cointegrator 1 complex subunit 2 isoform X13

    UniProtKB/TrEMBL
    A0A024R1E1
    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  14. XM_011530453.2XP_011528755.1  activating signal cointegrator 1 complex subunit 2 isoform X12

    See identical proteins and their annotated locations for XP_011528755.1

    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  15. XM_017029001.1XP_016884490.1  activating signal cointegrator 1 complex subunit 2 isoform X10

    Conserved Domains (1) summary
    cd14364
    Location:416455
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  16. XM_011530448.2XP_011528750.1  activating signal cointegrator 1 complex subunit 2 isoform X9

    See identical proteins and their annotated locations for XP_011528750.1

    Conserved Domains (1) summary
    cd14364
    Location:416455
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  17. XM_017029005.1XP_016884494.1  activating signal cointegrator 1 complex subunit 2 isoform X13

    UniProtKB/TrEMBL
    A0A024R1E1
    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  18. XM_011530450.2XP_011528752.1  activating signal cointegrator 1 complex subunit 2 isoform X12

    See identical proteins and their annotated locations for XP_011528752.1

    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  19. XM_017029003.1XP_016884492.1  activating signal cointegrator 1 complex subunit 2 isoform X10

    Conserved Domains (1) summary
    cd14364
    Location:416455
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  20. XM_017028999.1XP_016884488.1  activating signal cointegrator 1 complex subunit 2 isoform X7

    UniProtKB/Swiss-Prot
    Q9H1I8
    UniProtKB/TrEMBL
    A0A024R1F9
    Conserved Domains (1) summary
    cd14364
    Location:469508
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  21. XM_011530443.2XP_011528745.1  activating signal cointegrator 1 complex subunit 2 isoform X5

    See identical proteins and their annotated locations for XP_011528745.1

    Conserved Domains (1) summary
    cd14364
    Location:469508
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  22. XM_017029006.1XP_016884495.1  activating signal cointegrator 1 complex subunit 2 isoform X13

    UniProtKB/TrEMBL
    A0A024R1E1
    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  23. XM_011530451.2XP_011528753.1  activating signal cointegrator 1 complex subunit 2 isoform X12

    See identical proteins and their annotated locations for XP_011528753.1

    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  24. XM_011530452.2XP_011528754.1  activating signal cointegrator 1 complex subunit 2 isoform X12

    See identical proteins and their annotated locations for XP_011528754.1

    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  25. XM_011530444.2XP_011528746.1  activating signal cointegrator 1 complex subunit 2 isoform X5

    See identical proteins and their annotated locations for XP_011528746.1

    Conserved Domains (1) summary
    cd14364
    Location:469508
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  26. XM_017028998.1XP_016884487.1  activating signal cointegrator 1 complex subunit 2 isoform X7

    UniProtKB/Swiss-Prot
    Q9H1I8
    UniProtKB/TrEMBL
    A0A024R1F9
    Conserved Domains (1) summary
    cd14364
    Location:469508
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  27. XM_017028996.1XP_016884485.1  activating signal cointegrator 1 complex subunit 2 isoform X5

    Conserved Domains (1) summary
    cd14364
    Location:469508
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  28. XM_017028992.1XP_016884481.1  activating signal cointegrator 1 complex subunit 2 isoform X8

  29. XM_017029009.1XP_016884498.1  activating signal cointegrator 1 complex subunit 2 isoform X13

    UniProtKB/TrEMBL
    A0A024R1E1
    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  30. XM_011530455.2XP_011528757.1  activating signal cointegrator 1 complex subunit 2 isoform X12

    See identical proteins and their annotated locations for XP_011528757.1

    Conserved Domains (1) summary
    cd14364
    Location:355394
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  31. XM_024452290.1XP_024308058.1  activating signal cointegrator 1 complex subunit 2 isoform X4

    Conserved Domains (1) summary
    cd14364
    Location:470509
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  32. XM_024452288.1XP_024308056.1  activating signal cointegrator 1 complex subunit 2 isoform X2

    Conserved Domains (1) summary
    cd14364
    Location:498537
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  33. XM_024452287.1XP_024308055.1  activating signal cointegrator 1 complex subunit 2 isoform X1

    Conserved Domains (1) summary
    cd14364
    Location:523562
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  34. XM_024452291.1XP_024308059.1  activating signal cointegrator 1 complex subunit 2 isoform X6

    Conserved Domains (1) summary
    cd14364
    Location:470509
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
  35. XM_024452289.1XP_024308057.1  activating signal cointegrator 1 complex subunit 2 isoform X3

    Conserved Domains (1) summary
    cd14364
    Location:498537
    CUE_ASCC2; CUE domain found in activating signal cointegrator 1 complex subunit 2 (ASCC2) and similar proteins
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