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Entry version 152 (13 Feb 2019)
Sequence version 1 (01 Oct 2002)
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Protein

Activating signal cointegrator 1 complex subunit 1

Gene

ASCC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction.4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDNA damage, DNA repair, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-112126 ALKBH3 mediated reversal of alkylation damage

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Activating signal cointegrator 1 complex subunit 1
Alternative name(s):
ASC-1 complex subunit p501 Publication
Trip4 complex subunit p501 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ASCC1
ORF Names:CGI-18
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000138303.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24268 ASCC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614215 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N9N2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Barrett esophagus (BE)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes.
See also OMIM:614266
Spinal muscular atrophy with congenital bone fractures 2 (SMABF2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures.
See also OMIM:616867

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
51008

MalaCards human disease database

More...
MalaCardsi
ASCC1
MIMi614266 phenotype
616867 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000138303

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1232 NON RARE IN EUROPE: Barrett esophagus
486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134974899

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ASCC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
50400556

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000501001 – 400Activating signal cointegrator 1 complex subunit 1Add BLAST400

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8N9N2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N9N2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N9N2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8N9N2

PeptideAtlas

More...
PeptideAtlasi
Q8N9N2

PRoteomics IDEntifications database

More...
PRIDEi
Q8N9N2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
72561
72562 [Q8N9N2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N9N2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N9N2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138303 Expressed in 220 organ(s), highest expression level in right adrenal gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N9N2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N9N2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038038
HPA057567

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Identified in the ASCC complex that contains ASCC1, ASCC2 and ASCC3 (PubMed:29144457, PubMed:29997253). Interacts directly with ASCC3 (PubMed:29997253). The ASCC complex interacts with ALKBH3 (PubMed:29144457, PubMed:22055184). Part of the ASC-1 complex, that contains TRIP4, ASCC1, ASCC2 and ASCC3 (PubMed:12077347). Interacts with CSRP1 (PubMed:26924529).5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
TRAF2Q129333EBI-10268317,EBI-355744

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119215, 39 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8N9N2

Protein interaction database and analysis system

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IntActi
Q8N9N2, 19 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000339404

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q8N9N2

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini86 – 148KHPROSITE-ProRule annotationAdd BLAST63

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 53Required for interaction with ASCC31 PublicationAdd BLAST53

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2814 Eukaryota
ENOG4111FMP LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000018119

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000261687

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG050588

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N9N2

KEGG Orthology (KO)

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KOi
K18666

Identification of Orthologs from Complete Genome Data

More...
OMAi
GLCATDN

Database of Orthologous Groups

More...
OrthoDBi
900867at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N9N2

TreeFam database of animal gene trees

More...
TreeFami
TF314479

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.1370.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009210 ASCC1
IPR009097 cNuc_Pdiesterase
IPR004088 KH_dom_type_1
IPR036612 KH_dom_type_1_sf
IPR019510 Kinase-A_anchor_nucl_local_sig

The PANTHER Classification System

More...
PANTHERi
PTHR13360 PTHR13360, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10469 AKAP7_NLS, 1 hit
PF00013 KH_1, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF027019 Euk_LigT, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54791 SSF54791, 1 hit
SSF55144 SSF55144, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50084 KH_TYPE_1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N9N2-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MEVLRPQLIR IDGRNYRKNP VQEQTYQHEE DEEDFYQGSM ECADEPCDAY
60 70 80 90 100
EVEQTPQGFR STLRAPSLLY NLIHLNTSND CGFQKITLDC QNIYTWKSRH
110 120 130 140 150
IVGKRGDTRK KIEMETKTSI SIPKPGQDGE IVITGQHRNG VISARTRIDV
160 170 180 190 200
LLDTFRRKQP FTHFLAFFLN EVEVQEGFLR FQEEVLAKCS MDHGVDSSIF
210 220 230 240 250
QNPKKLHLTI GMLVLLSEEE IQQTCEMLQQ CKEEFINDIS GGKPLEVEMA
260 270 280 290 300
GIEYMNDDPG MVDVLYAKVH MKDGSNRLQE LVDRVLERFQ ASGLIVKEWN
310 320 330 340 350
SVKLHATVMN TLFRKDPNAE GRYNLYTAEG KYIFKERESF DGRNILKSFA
360 370 380 390 400
LLPRLEYNDA ISAHCNLCLP GSSDSPASAS QVAGITGVSD AYSQSLPGKS
Length:400
Mass (Da):45,509
Last modified:October 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iDAD067C98CE71DDB
GO
Isoform 2 (identifier: Q8N9N2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-99: NLIHLNTSNDCGFQKITLDCQNIYTWKSR → K
     348-400: SFALLPRLEY...AYSQSLPGKS → LFENFYFGSL...YASCGQIDFS

Show »
Length:357
Mass (Da):41,228
Checksum:iC25FA29C9BA16EDE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YE76H0YE76_HUMAN
Activating signal cointegrator 1 co...
ASCC1
176Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PQZ6E9PQZ6_HUMAN
Activating signal cointegrator 1 co...
ASCC1
152Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PM82E9PM82_HUMAN
Activating signal cointegrator 1 co...
ASCC1
124Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YCB3H0YCB3_HUMAN
Activating signal cointegrator 1 co...
ASCC1
292Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PL92E9PL92_HUMAN
Activating signal cointegrator 1 co...
ASCC1
103Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PKM6E9PKM6_HUMAN
Activating signal cointegrator 1 co...
ASCC1
123Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YE79H0YE79_HUMAN
Activating signal cointegrator 1 co...
ASCC1
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YER2H0YER2_HUMAN
Activating signal cointegrator 1 co...
ASCC1
145Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PR40E9PR40_HUMAN
Activating signal cointegrator 1 co...
ASCC1
139Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PJM2E9PJM2_HUMAN
Activating signal cointegrator 1 co...
ASCC1
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti11I → F in AAG45476 (PubMed:12077347).Curated1
Sequence conflicti11I → F in AAD27727 (PubMed:10810093).Curated1
Sequence conflicti240 – 243SGGK → PGR in AAG45476 (PubMed:12077347).Curated4
Sequence conflicti240 – 243SGGK → PGR in AAD27727 (PubMed:10810093).Curated4
Sequence conflicti250A → P in AAG45476 (PubMed:12077347).Curated1
Sequence conflicti250A → P in AAD27727 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06127834D → N. Corresponds to variant dbSNP:rs11558719Ensembl.1
Natural variantiVAR_066588318N → S Found in patients with Barrett esophagus. 1 PublicationCorresponds to variant dbSNP:rs146370051EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01100771 – 99NLIHL…TWKSR → K in isoform 2. 4 PublicationsAdd BLAST29
Alternative sequenceiVSP_011008348 – 400SFALL…LPGKS → LFENFYFGSLKLNSIHISQR FTVDSFGNYASCGQIDFS in isoform 2. 4 PublicationsAdd BLAST53

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY013290 mRNA Translation: AAG45476.1
AF132952 mRNA Translation: AAD27727.1
AK094170 mRNA Translation: BAC04299.1
AK023436 mRNA Translation: BAG51193.1
AC022392 Genomic DNA No translation available.
AL607035 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54444.1
BC012291 mRNA Translation: AAH12291.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS31219.1 [Q8N9N2-2]
CCDS55713.1 [Q8N9N2-1]

NCBI Reference Sequences

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RefSeqi
NP_001185727.1, NM_001198798.2 [Q8N9N2-2]
NP_001185728.1, NM_001198799.2 [Q8N9N2-1]
NP_001185729.1, NM_001198800.2 [Q8N9N2-2]
XP_006717936.1, XM_006717873.3 [Q8N9N2-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.500007

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000317126; ENSP00000320461; ENSG00000138303 [Q8N9N2-2]
ENST00000317168; ENSP00000320810; ENSG00000138303 [Q8N9N2-2]
ENST00000342444; ENSP00000339404; ENSG00000138303 [Q8N9N2-1]
ENST00000394915; ENSP00000378373; ENSG00000138303 [Q8N9N2-1]
ENST00000394919; ENSP00000378377; ENSG00000138303 [Q8N9N2-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51008

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51008

UCSC genome browser

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UCSCi
uc001jst.3 human [Q8N9N2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY013290 mRNA Translation: AAG45476.1
AF132952 mRNA Translation: AAD27727.1
AK094170 mRNA Translation: BAC04299.1
AK023436 mRNA Translation: BAG51193.1
AC022392 Genomic DNA No translation available.
AL607035 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54444.1
BC012291 mRNA Translation: AAH12291.1
CCDSiCCDS31219.1 [Q8N9N2-2]
CCDS55713.1 [Q8N9N2-1]
RefSeqiNP_001185727.1, NM_001198798.2 [Q8N9N2-2]
NP_001185728.1, NM_001198799.2 [Q8N9N2-1]
NP_001185729.1, NM_001198800.2 [Q8N9N2-2]
XP_006717936.1, XM_006717873.3 [Q8N9N2-2]
UniGeneiHs.500007

3D structure databases

ProteinModelPortaliQ8N9N2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119215, 39 interactors
CORUMiQ8N9N2
IntActiQ8N9N2, 19 interactors
STRINGi9606.ENSP00000339404

PTM databases

iPTMnetiQ8N9N2
PhosphoSitePlusiQ8N9N2

Polymorphism and mutation databases

BioMutaiASCC1
DMDMi50400556

Proteomic databases

EPDiQ8N9N2
jPOSTiQ8N9N2
MaxQBiQ8N9N2
PaxDbiQ8N9N2
PeptideAtlasiQ8N9N2
PRIDEiQ8N9N2
ProteomicsDBi72561
72562 [Q8N9N2-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
51008
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317126; ENSP00000320461; ENSG00000138303 [Q8N9N2-2]
ENST00000317168; ENSP00000320810; ENSG00000138303 [Q8N9N2-2]
ENST00000342444; ENSP00000339404; ENSG00000138303 [Q8N9N2-1]
ENST00000394915; ENSP00000378373; ENSG00000138303 [Q8N9N2-1]
ENST00000394919; ENSP00000378377; ENSG00000138303 [Q8N9N2-2]
GeneIDi51008
KEGGihsa:51008
UCSCiuc001jst.3 human [Q8N9N2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51008
DisGeNETi51008
EuPathDBiHostDB:ENSG00000138303.17

GeneCards: human genes, protein and diseases

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GeneCardsi
ASCC1
HGNCiHGNC:24268 ASCC1
HPAiHPA038038
HPA057567
MalaCardsiASCC1
MIMi614215 gene
614266 phenotype
616867 phenotype
neXtProtiNX_Q8N9N2
OpenTargetsiENSG00000138303
Orphaneti1232 NON RARE IN EUROPE: Barrett esophagus
486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures
PharmGKBiPA134974899

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2814 Eukaryota
ENOG4111FMP LUCA
GeneTreeiENSGT00390000018119
HOGENOMiHOG000261687
HOVERGENiHBG050588
InParanoidiQ8N9N2
KOiK18666
OMAiGLCATDN
OrthoDBi900867at2759
PhylomeDBiQ8N9N2
TreeFamiTF314479

Enzyme and pathway databases

ReactomeiR-HSA-112126 ALKBH3 mediated reversal of alkylation damage

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ASCC1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
51008

Protein Ontology

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PROi
PR:Q8N9N2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138303 Expressed in 220 organ(s), highest expression level in right adrenal gland
ExpressionAtlasiQ8N9N2 baseline and differential
GenevisibleiQ8N9N2 HS

Family and domain databases

Gene3Di3.30.1370.10, 1 hit
InterProiView protein in InterPro
IPR009210 ASCC1
IPR009097 cNuc_Pdiesterase
IPR004088 KH_dom_type_1
IPR036612 KH_dom_type_1_sf
IPR019510 Kinase-A_anchor_nucl_local_sig
PANTHERiPTHR13360 PTHR13360, 1 hit
PfamiView protein in Pfam
PF10469 AKAP7_NLS, 1 hit
PF00013 KH_1, 1 hit
PIRSFiPIRSF027019 Euk_LigT, 1 hit
SUPFAMiSSF54791 SSF54791, 1 hit
SSF55144 SSF55144, 1 hit
PROSITEiView protein in PROSITE
PS50084 KH_TYPE_1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiASCC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N9N2
Secondary accession number(s): Q5SW06
, Q5SW07, Q96EI8, Q9Y307
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 1, 2002
Last modified: February 13, 2019
This is version 152 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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