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UniProtKB - Q9GZX7 (AICDA_HUMAN)

Entry version 164 (18 Sep 2019)
Sequence version 1 (01 Mar 2001)
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Protein

Single-stranded DNA cytosine deaminase

Gene

AICDA

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

Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation (SHM), gene conversion, and class-switch recombination (CSR) in B-lymphocytes by deaminating C to U during transcription of Ig-variable (V) and Ig-switch (S) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses (PubMed:18722174, PubMed:21385873, PubMed:21518874, PubMed:27716525). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (PubMed:21496894).5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi56Zinc; catalytic1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei58Proton donorBy similarity1
Metal bindingi87Zinc; catalytic1 Publication1
Metal bindingi90Zinc; catalytic1 Publication1

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Molecular functionHydrolase
Biological processmRNA processing
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.5.4.38 2681

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9GZX7

<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:
Single-stranded DNA cytosine deaminase (EC:3.5.4.381 Publication)
Alternative name(s):
Activation-induced cytidine deaminase
Short name:
AID
Cytidine aminohydrolase
<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:AICDA
Synonyms:AID
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:13203 AICDA

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605257 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9GZX7

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, 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

Immunodeficiency with hyper-IgM 2 (HIGM2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.
Related information in OMIM
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_07756315F → L in HIGM2. 1 Publication1
Natural variantiVAR_01377424R → W in HIGM2; completely abolishes nuclear import and interaction with CTNNBL1, diminishes interaction with KPNA1 and abolishes immunoglobulin class switching. 3 PublicationsCorresponds to variant dbSNP:rs104894324EnsemblClinVar.1
Natural variantiVAR_07756431Y → H in HIGM2. 1 Publication1
Natural variantiVAR_07756556H → Y in HIGM2; unknown pathological significance; loss of mutagenic activity. 2 Publications1
Natural variantiVAR_01377580W → R in HIGM2. 2 PublicationsCorresponds to variant dbSNP:rs104894320EnsemblClinVar.1
Natural variantiVAR_07756687C → R in HIGM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs762590894EnsemblClinVar.1
Natural variantiVAR_013776106L → P in HIGM2. 2 PublicationsCorresponds to variant dbSNP:rs104894321EnsemblClinVar.1
Natural variantiVAR_077567130H → P in HIGM2; slightly decreased mutagenic activity. 2 Publications1
Natural variantiVAR_013777139M → V in HIGM2. 2 PublicationsCorresponds to variant dbSNP:rs104894322EnsemblClinVar.1
Natural variantiVAR_013778151F → S in HIGM2. 2 PublicationsCorresponds to variant dbSNP:rs104894327EnsemblClinVar.1
Natural variantiVAR_077568174R → S in HIGM2; unknown pathological significance. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi10K → A: Little effect on nuclear import; when associated with A-193. No effect on CTNNBL1 binding. 1 Publication1
Mutagenesisi18V → S: Greatly impaired nuclear import; when associated with V-19 and A-193. Reduced interaction with both CTNNBL1 and KPNA1, and abolishes immunoglobulin class switching; when associated with V-19. 1 Publication1
Mutagenesisi19R → V: Greatly impaired nuclear import; when associated with S-18 and A-193. Reduced interaction with both CTNNBL1 and KPNA1, and abolishes immunoglobulin class switching; when associated with S-18. 1 Publication1
Mutagenesisi20W → K: Impaired nuclear import; when associated with A-193. No effect on CTNNBL1 binding. 1 Publication1
Mutagenesisi27T → A: Loss of phosphorylation. No effect on cytidine deaminase activity. Impaired class-switch recombination activity. 2 Publications1
Mutagenesisi27T → E: Phosphomimetic mutant which shows loss of cytidine deaminase activity and impaired class-switch recombination activity. 2 Publications1
Mutagenesisi38S → A: Loss of phosphorylation. Impaired class-switch recombination activity. No effect on interaction with CTNNBL1. 2 Publications1
Mutagenesisi38S → D: No effect on interaction with CTNNBL1. 2 Publications1
Mutagenesisi39 – 42ATSF → GGQV: Greatly reduced interaction with CTNNBL1 but no effect on subcellular location, enzyme activity, ability to oligomerize nor on phosphorylation at Ser-38. Diminished antibody diversification. 1 Publication4
Mutagenesisi50R → G: Some reduced nuclear import; when associated with A-193. 1 Publication1
Mutagenesisi112R → D: Greatly reduced nuclear import; when associated with A-193. 1 Publication1
Mutagenesisi193F → A: Completely abolishes nuclear import; when associated with W-24 or D-112. Little affect on nuclear import; when associated with A-10. Greatly impaired nuclear import; when associated with K-20 or G-50. Almost completely abolishes nuclear import; when associated with S-18 and V-19. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		57379

MalaCards human disease database

More...MalaCardsi		AICDA
MIMi605258 phenotype

Open Targets

More...OpenTargetsi		ENSG00000111732

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

More...Orphaneti		101089 Hyper-IgM syndrome type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24644

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AICDA

Domain mapping of disease mutations (DMDM)

More...DMDMi		23813666

<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_00001716871 – 198Single-stranded DNA cytosine deaminaseAdd BLAST198

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei27Phosphothreonine; by PKA1 Publication1
Modified residuei38Phosphoserine; by PKA2 Publications1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ser-38 is the major site whereas Thr-27 is the minor site of phosphorylation. Phosphorylation regulates its class-switch recombination activity.2 Publications
Probably monoubiquitinated on several residues by RNF126.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9GZX7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9GZX7

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

More...PaxDbi		Q9GZX7

PeptideAtlas

More...PeptideAtlasi		Q9GZX7

PRoteomics IDEntifications database

More...PRIDEi		Q9GZX7

ProteomicsDB human proteome resource

More...ProteomicsDBi		67301
80168 [Q9GZX7-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9GZX7

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

More...PhosphoSitePlusi		Q9GZX7

<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

Strongly expressed in lymph nodes and tonsils.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Negatively regulated by microRNA-155 (miR-155).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000111732 Expressed in 68 organ(s), highest expression level in chorionic villus

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9GZX7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9GZX7 HS

<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

Interacts with CTNNBL1; the interaction is important for the immunoglobulin switch activity of AICDA (PubMed:18722174, PubMed:21385873).

Interacts (via its NLS) with KPNA1.

Interacts with PKA/PRKACA and PRKAR1A/PKR1 (PubMed:16387847).

Interacts with TRIM28 and NCL (By similarity).

Interacts with SUPT6H (PubMed:21518874).

Interacts with RNF126 (PubMed:23277564). Directly interacts with MCM3AP; this interaction may favor AICDA recruitment to immunoglobulin variable region genes, hence promoting somatic hypermutations (PubMed:20507984).

By similarity6 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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		121497, 54 interactors

Database of interacting proteins

More...DIPi		DIP-48519N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9GZX7

Protein interaction database and analysis system

More...IntActi		Q9GZX7, 31 interactors

Molecular INTeraction database

More...MINTi		Q9GZX7

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000229335

<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

Secondary structure

1198
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9GZX7

Database of comparative protein structure models

More...ModBasei		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>Domaini23 – 129CMP/dCMP-type deaminasePROSITE-ProRule annotationAdd BLAST107

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>Regioni2 – 26Interaction with SUPT6H1 PublicationAdd BLAST25
Regioni39 – 42Important for interaction with CTNNBL11 Publication4
Regioni88 – 116Required for interaction with RNF1261 PublicationAdd BLAST29

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi1 – 30Bipartite nuclear localization signal1 PublicationAdd BLAST30
Motifi183 – 198Nuclear export signal1 PublicationAdd BLAST16

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the cytidine and deoxycytidylate deaminase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IFHW Eukaryota
ENOG4111HYQ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158731

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000033754

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9GZX7

KEGG Orthology (KO)

More...KOi		K10989

Identification of Orthologs from Complete Genome Data

More...OMAi		GYPNLSL

Database of Orthologous Groups

More...OrthoDBi		1237707at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9GZX7

TreeFam database of animal gene trees

More...TreeFami		TF331356

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016192 APOBEC/CMP_deaminase_Zn-bd
IPR002125 CMP_dCMP_dom
IPR016193 Cytidine_deaminase-like

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53927 SSF53927, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00903 CYT_DCMP_DEAMINASES_1, 1 hit
PS51747 CYT_DCMP_DEAMINASES_2, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9GZX7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MDSLLMNRRK FLYQFKNVRW AKGRRETYLC YVVKRRDSAT SFSLDFGYLR 
        60         70         80         90        100
NKNGCHVELL FLRYISDWDL DPGRCYRVTW FTSWSPCYDC ARHVADFLRG 
       110        120        130        140        150
NPNLSLRIFT ARLYFCEDRK AEPEGLRRLH RAGVQIAIMT FKDYFYCWNT 
       160        170        180        190 
FVENHERTFK AWEGLHENSV RLSRQLRRIL LPLYEVDDLR DAFRTLGL
Length:198
Mass (Da):23,954
Last modified:March 1, 2001 - 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:i3C27BB143DB184A9
GO
Isoform 2 (identifier: Q9GZX7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     143-152: Missing.

Show »
Length:188
Mass (Da):22,614
Checksum:i02C20DFDA47793E3
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YFL3H0YFL3_HUMAN
Single-stranded DNA cytosine deamin...
AICDA
144Annotation 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>
H0YGF6H0YGF6_HUMAN
Single-stranded DNA cytosine deamin...
AICDA
197Annotation 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>
H0YFP1H0YFP1_HUMAN
Single-stranded DNA cytosine deamin...
AICDA
68Annotation 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>

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 conflicti119R → H in AAM95406 (PubMed:12202747).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07756315F → L in HIGM2. 1 Publication1
Natural variantiVAR_01377424R → W in HIGM2; completely abolishes nuclear import and interaction with CTNNBL1, diminishes interaction with KPNA1 and abolishes immunoglobulin class switching. 3 PublicationsCorresponds to variant dbSNP:rs104894324EnsemblClinVar.1
Natural variantiVAR_01409125R → C1 PublicationCorresponds to variant dbSNP:rs1404944797Ensembl.1
Natural variantiVAR_07756431Y → H in HIGM2. 1 Publication1
Natural variantiVAR_07756556H → Y in HIGM2; unknown pathological significance; loss of mutagenic activity. 2 Publications1
Natural variantiVAR_01377580W → R in HIGM2. 2 PublicationsCorresponds to variant dbSNP:rs104894320EnsemblClinVar.1
Natural variantiVAR_07756687C → R in HIGM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs762590894EnsemblClinVar.1
Natural variantiVAR_013776106L → P in HIGM2. 2 PublicationsCorresponds to variant dbSNP:rs104894321EnsemblClinVar.1
Natural variantiVAR_077567130H → P in HIGM2; slightly decreased mutagenic activity. 2 Publications1
Natural variantiVAR_013777139M → V in HIGM2. 2 PublicationsCorresponds to variant dbSNP:rs104894322EnsemblClinVar.1
Natural variantiVAR_013778151F → S in HIGM2. 2 PublicationsCorresponds to variant dbSNP:rs104894327EnsemblClinVar.1
Natural variantiVAR_077568174R → S in HIGM2; unknown pathological significance. 1 Publication1

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_047803143 – 152Missing in isoform 2. 1 Publication10

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB040431 mRNA Translation: BAB12721.1
AB040430 Genomic DNA Translation: BAB12720.1
AF529819 mRNA Translation: AAM95406.1
AY536516 mRNA Translation: AAS92920.1
BT007402 mRNA Translation: AAP36066.1
AC092184 Genomic DNA No translation available.
BC006296 mRNA Translation: AAH06296.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41747.1 [Q9GZX7-1]
CCDS81662.1 [Q9GZX7-2]

NCBI Reference Sequences

More...RefSeqi		NP_001317272.1, NM_001330343.1 [Q9GZX7-2]
NP_065712.1, NM_020661.3 [Q9GZX7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000229335; ENSP00000229335; ENSG00000111732 [Q9GZX7-1]
ENST00000537228; ENSP00000445691; ENSG00000111732 [Q9GZX7-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57379

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57379

UCSC genome browser

More...UCSCi		uc001qur.3 human [Q9GZX7-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

AICDAbase

AICDA mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040431 mRNA Translation: BAB12721.1
AB040430 Genomic DNA Translation: BAB12720.1
AF529819 mRNA Translation: AAM95406.1
AY536516 mRNA Translation: AAS92920.1
BT007402 mRNA Translation: AAP36066.1
AC092184 Genomic DNA No translation available.
BC006296 mRNA Translation: AAH06296.1
CCDSiCCDS41747.1 [Q9GZX7-1]
CCDS81662.1 [Q9GZX7-2]
RefSeqiNP_001317272.1, NM_001330343.1 [Q9GZX7-2]
NP_065712.1, NM_020661.3 [Q9GZX7-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5JJ4X-ray2.81A/B/C23-183[»]
5W0RX-ray2.40A/B13-181[»]
5W0UX-ray2.90A/B13-181[»]
5W0ZX-ray3.61A/B13-181[»]
5W1CX-ray3.18A/B5-181[»]
SMRiQ9GZX7
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121497, 54 interactors
DIPiDIP-48519N
ELMiQ9GZX7
IntActiQ9GZX7, 31 interactors
MINTiQ9GZX7
STRINGi9606.ENSP00000229335

PTM databases

iPTMnetiQ9GZX7
PhosphoSitePlusiQ9GZX7

Polymorphism and mutation databases

BioMutaiAICDA
DMDMi23813666

Proteomic databases

MassIVEiQ9GZX7
MaxQBiQ9GZX7
PaxDbiQ9GZX7
PeptideAtlasiQ9GZX7
PRIDEiQ9GZX7
ProteomicsDBi67301
80168 [Q9GZX7-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		57379
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000229335; ENSP00000229335; ENSG00000111732 [Q9GZX7-1]
ENST00000537228; ENSP00000445691; ENSG00000111732 [Q9GZX7-2]
GeneIDi57379
KEGGihsa:57379
UCSCiuc001qur.3 human [Q9GZX7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57379
DisGeNETi57379

GeneCards: human genes, protein and diseases

More...GeneCardsi		AICDA
HGNCiHGNC:13203 AICDA
MalaCardsiAICDA
MIMi605257 gene
605258 phenotype
neXtProtiNX_Q9GZX7
OpenTargetsiENSG00000111732
Orphaneti101089 Hyper-IgM syndrome type 2
PharmGKBiPA24644

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IFHW Eukaryota
ENOG4111HYQ LUCA
GeneTreeiENSGT00940000158731
HOGENOMiHOG000033754
InParanoidiQ9GZX7
KOiK10989
OMAiGYPNLSL
OrthoDBi1237707at2759
PhylomeDBiQ9GZX7
TreeFamiTF331356

Enzyme and pathway databases

BRENDAi3.5.4.38 2681
SIGNORiQ9GZX7

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		AICDA

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

More...GenomeRNAii		57379

Pharos

More...Pharosi		Q9GZX7

Protein Ontology

More...PROi		PR:Q9GZX7

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000111732 Expressed in 68 organ(s), highest expression level in chorionic villus
ExpressionAtlasiQ9GZX7 baseline and differential
GenevisibleiQ9GZX7 HS

Family and domain databases

InterProiView protein in InterPro
IPR016192 APOBEC/CMP_deaminase_Zn-bd
IPR002125 CMP_dCMP_dom
IPR016193 Cytidine_deaminase-like
SUPFAMiSSF53927 SSF53927, 1 hit
PROSITEiView protein in PROSITE
PS00903 CYT_DCMP_DEAMINASES_1, 1 hit
PS51747 CYT_DCMP_DEAMINASES_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiAICDA_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: Q9GZX7
Secondary accession number(s): Q6QJ81, Q8NFC1
<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: October 10, 2002
Last sequence update: March 1, 2001
Last modified: September 18, 2019
This is version 164 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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