Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 166 (13 Nov 2019)
Sequence version 1 (01 May 2000)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Gamma-adducin

Gene

ADD3

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

Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin.1 Publication

<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

Molecular functionActin-binding, Calmodulin-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5223345 Miscellaneous transport and binding events

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9UEY8

<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:
Gamma-adducin
Alternative name(s):
Adducin-like protein 70
<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:ADD3
Synonyms:ADDL
<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

Human Gene Nomenclature Database

More...
HGNCi
HGNC:245 ADD3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601568 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UEY8

<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

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

<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

Cerebral palsy, spastic quadriplegic 3 (CPSQ3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment.
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_076996367G → D in CPSQ3; decreased actin capping activity; increased fibroblast proliferation and migration; decreased colocalization with alpha subunit ADD1. 1 PublicationCorresponds to variant dbSNP:rs564185858EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
120

MalaCards human disease database

More...
MalaCardsi
ADD3
MIMi617008 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000148700

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

More...
Orphaneti
210141 Inherited congenital spastic tetraplegia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24567

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UEY8

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ADD3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
12643881

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00002185362 – 706Gamma-adducinAdd BLAST705

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 residuei2N-acetylserineCombined sources1
Modified residuei42PhosphoserineCombined sources1
Modified residuei64PhosphoserineCombined sources1
Modified residuei402PhosphoserineCombined sources1
Modified residuei414PhosphoserineBy similarity1
Modified residuei423PhosphoserineCombined sources1
Modified residuei442PhosphoserineCombined sources1
Modified residuei461PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki484Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei585PhosphoserineBy similarity1
Modified residuei590PhosphoserineBy similarity1
Modified residuei673PhosphoserineCombined sources1
Modified residuei677PhosphoserineCombined sources1
Modified residuei679PhosphoserineBy similarity1
Modified residuei681PhosphoserineCombined sources1
Modified residuei683PhosphoserineCombined sources1

<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

Sumoylated.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UEY8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UEY8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9UEY8

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

More...
PaxDbi
Q9UEY8

PeptideAtlas

More...
PeptideAtlasi
Q9UEY8

PRoteomics IDEntifications database

More...
PRIDEi
Q9UEY8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
84160 [Q9UEY8-1]
84161 [Q9UEY8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UEY8

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

More...
PhosphoSitePlusi
Q9UEY8

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q9UEY8

<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

Isoform 1 is ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000148700 Expressed in 244 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UEY8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UEY8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB009797
HPA035696

<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

Heterodimer of an alpha and a gamma subunit.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106633, 43 interactors

Protein interaction database and analysis system

More...
IntActi
Q9UEY8, 37 interactors

Molecular INTeraction database

More...
MINTi
Q9UEY8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000348381

<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

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

More...
SMRi
Q9UEY8

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

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>Regioni684 – 701Interaction with calmodulinSequence analysisAdd BLAST18

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Comprised of three regions: a N-terminal protease-resistant globular head region, a short connecting subdomain, and a protease-sensitive tail region.

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3699 Eukaryota
COG0235 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155257

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000116349

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UEY8

KEGG Orthology (KO)

More...
KOi
K18622

Identification of Orthologs from Complete Genome Data

More...
OMAi
ITWMKAD

Database of Orthologous Groups

More...
OrthoDBi
400524at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UEY8

TreeFam database of animal gene trees

More...
TreeFami
TF313003

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.225.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027772 ADD3
IPR001303 Aldolase_II/adducin_N
IPR036409 Aldolase_II/adducin_N_sf

The PANTHER Classification System

More...
PANTHERi
PTHR10672:SF5 PTHR10672:SF5, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00596 Aldolase_II, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01007 Aldolase_II, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53639 SSF53639, 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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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
Note: Additional isoforms seem to exist.
Isoform 2 (identifier: Q9UEY8-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MSSDASQGVI TTPPPPSMPH KERYFDRINE NDPEYIRERN MSPDLRQDFN
60 70 80 90 100
MMEQRKRVTQ ILQSPAFRED LECLIQEQMK KGHNPTGLLA LQQIADYIMA
110 120 130 140 150
NSFSGFSSPP LSLGMVTPIN DLPGADTSSY VKGEKLTRCK LASLYRLVDL
160 170 180 190 200
FGWAHLANTY ISVRISKEQD HIIIIPRGLS FSEATASNLV KVNIIGEVVD
210 220 230 240 250
QGSTNLKIDH TGFSPHAAIY STRPDVKCVI HIHTLATAAV SSMKCGILPI
260 270 280 290 300
SQESLLLGDV AYYDYQGSLE EQEERIQLQK VLGPSCKVLV LRNHGVVALG
310 320 330 340 350
ETLEEAFHYI FNVQLACEIQ VQALAGAGGV DNLHVLDFQK YKAFTYTVAA
360 370 380 390 400
SGGGGVNMGS HQKWKVGEIE FEGLMRTLDN LGYRTGYAYR HPLIREKPRH
410 420 430 440 450
KSDVEIPATV TAFSFEDDTV PLSPLKYMAQ RQQREKTRWL NSPNTYMKVN
460 470 480 490 500
VPEESRNGET SPRTKITWMK AEDSSKVSGG TPIKIEDPNQ FVPLNTNPNE
510 520 530 540 550
VLEKRNKIRE QNRYDLKTAG PQSQLLAGIV VDKPPSTMQF EDDDHGPPAP
560 570 580 590 600
PNPFSHLTEG ELEEYKRTIE RKQQGLEDAE QELLSDDASS VSQIQSQTQS
610 620 630 640 650
PQNVPEKLEE NHELFSKSFI SMEVPVMVVN GKDDMHDVED ELAKRVSRLS
660 670 680 690 700
TSTTIENIEI TIKSPEKIEE VLSPEGSPSK SPSKKKKKFR TPSFLKKNKK

KEKVEA
Length:706
Mass (Da):79,155
Last modified:May 1, 2000 - 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:iEB8EAF602A4D7B41
GO
Isoform 1 (identifier: Q9UEY8-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     576-607: Missing.

Show »
Length:674
Mass (Da):75,671
Checksum:i28935F90F7C17BD9
GO

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 conflicti49 – 50FN → SS in BAA23783 (PubMed:8893809).Curated2
Sequence conflicti60Q → R in BAA23783 (PubMed:8893809).Curated1
Sequence conflicti362Q → P in AAB17126 (Ref. 2) Curated1
Sequence conflicti420V → M in AAB17126 (Ref. 2) Curated1
Sequence conflicti421P → L in BAA23783 (PubMed:8893809).Curated1
Sequence conflicti426 – 433KYMAQRQQ → QIHGTRGNK in AAB17126 (Ref. 2) Curated8
Sequence conflicti484K → Q in AAB17126 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076996367G → D in CPSQ3; decreased actin capping activity; increased fibroblast proliferation and migration; decreased colocalization with alpha subunit ADD1. 1 PublicationCorresponds to variant dbSNP:rs564185858EnsemblClinVar.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_000188576 – 607Missing in isoform 1. 3 PublicationsAdd BLAST32

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
D67031 mRNA Translation: BAA23783.1
U37122 mRNA Translation: AAB17126.1
Y14372
, Y14373, Y14374, Y14375, Y14376, Y14377, Y14378, Y14379, Y14380, Y14381, Y14382, Y14383, Y14384 Genomic DNA Translation: CAB51805.1
Y14372
, Y14373, Y14374, Y14375, Y14376, Y14377, Y14378, Y14379, Y14380, Y14381, Y14382, Y14384 Genomic DNA Translation: CAB51806.1
BX647403 mRNA Translation: CAI46048.1
AL590628 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49573.1
CH471066 Genomic DNA Translation: EAW49574.1
BC062559 mRNA Translation: AAH62559.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7561.1 [Q9UEY8-1]
CCDS7562.1 [Q9UEY8-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
JC7164

NCBI Reference Sequences

More...
RefSeqi
NP_001112.2, NM_001121.3 [Q9UEY8-2]
NP_001307520.1, NM_001320591.1 [Q9UEY8-1]
NP_001307521.1, NM_001320592.1 [Q9UEY8-1]
NP_001307522.1, NM_001320593.1 [Q9UEY8-1]
NP_001307523.1, NM_001320594.1
NP_058432.1, NM_016824.4 [Q9UEY8-1]
NP_063968.1, NM_019903.4 [Q9UEY8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000277900; ENSP00000277900; ENSG00000148700 [Q9UEY8-2]
ENST00000356080; ENSP00000348381; ENSG00000148700 [Q9UEY8-1]
ENST00000360162; ENSP00000353286; ENSG00000148700 [Q9UEY8-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
120

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:120

UCSC genome browser

More...
UCSCi
uc001kys.5 human [Q9UEY8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D67031 mRNA Translation: BAA23783.1
U37122 mRNA Translation: AAB17126.1
Y14372
, Y14373, Y14374, Y14375, Y14376, Y14377, Y14378, Y14379, Y14380, Y14381, Y14382, Y14383, Y14384 Genomic DNA Translation: CAB51805.1
Y14372
, Y14373, Y14374, Y14375, Y14376, Y14377, Y14378, Y14379, Y14380, Y14381, Y14382, Y14384 Genomic DNA Translation: CAB51806.1
BX647403 mRNA Translation: CAI46048.1
AL590628 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49573.1
CH471066 Genomic DNA Translation: EAW49574.1
BC062559 mRNA Translation: AAH62559.1
CCDSiCCDS7561.1 [Q9UEY8-1]
CCDS7562.1 [Q9UEY8-2]
PIRiJC7164
RefSeqiNP_001112.2, NM_001121.3 [Q9UEY8-2]
NP_001307520.1, NM_001320591.1 [Q9UEY8-1]
NP_001307521.1, NM_001320592.1 [Q9UEY8-1]
NP_001307522.1, NM_001320593.1 [Q9UEY8-1]
NP_001307523.1, NM_001320594.1
NP_058432.1, NM_016824.4 [Q9UEY8-1]
NP_063968.1, NM_019903.4 [Q9UEY8-2]

3D structure databases

SMRiQ9UEY8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi106633, 43 interactors
IntActiQ9UEY8, 37 interactors
MINTiQ9UEY8
STRINGi9606.ENSP00000348381

PTM databases

iPTMnetiQ9UEY8
PhosphoSitePlusiQ9UEY8

Polymorphism and mutation databases

BioMutaiADD3
DMDMi12643881

Proteomic databases

EPDiQ9UEY8
jPOSTiQ9UEY8
MassIVEiQ9UEY8
PaxDbiQ9UEY8
PeptideAtlasiQ9UEY8
PRIDEiQ9UEY8
ProteomicsDBi84160 [Q9UEY8-1]
84161 [Q9UEY8-2]

Genome annotation databases

EnsembliENST00000277900; ENSP00000277900; ENSG00000148700 [Q9UEY8-2]
ENST00000356080; ENSP00000348381; ENSG00000148700 [Q9UEY8-1]
ENST00000360162; ENSP00000353286; ENSG00000148700 [Q9UEY8-2]
GeneIDi120
KEGGihsa:120
UCSCiuc001kys.5 human [Q9UEY8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
120
DisGeNETi120

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ADD3
HGNCiHGNC:245 ADD3
HPAiCAB009797
HPA035696
MalaCardsiADD3
MIMi601568 gene
617008 phenotype
neXtProtiNX_Q9UEY8
OpenTargetsiENSG00000148700
Orphaneti210141 Inherited congenital spastic tetraplegia
PharmGKBiPA24567

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3699 Eukaryota
COG0235 LUCA
GeneTreeiENSGT00940000155257
HOGENOMiHOG000116349
InParanoidiQ9UEY8
KOiK18622
OMAiITWMKAD
OrthoDBi400524at2759
PhylomeDBiQ9UEY8
TreeFamiTF313003

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events
SIGNORiQ9UEY8

Miscellaneous databases

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

More...
ChiTaRSi
ADD3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ADD3

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

More...
GenomeRNAii
120
PharosiQ9UEY8
PMAP-CutDBiQ9UEY8

Protein Ontology

More...
PROi
PR:Q9UEY8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000148700 Expressed in 244 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ9UEY8 baseline and differential
GenevisibleiQ9UEY8 HS

Family and domain databases

Gene3Di3.40.225.10, 1 hit
InterProiView protein in InterPro
IPR027772 ADD3
IPR001303 Aldolase_II/adducin_N
IPR036409 Aldolase_II/adducin_N_sf
PANTHERiPTHR10672:SF5 PTHR10672:SF5, 1 hit
PfamiView protein in Pfam
PF00596 Aldolase_II, 1 hit
SMARTiView protein in SMART
SM01007 Aldolase_II, 1 hit
SUPFAMiSSF53639 SSF53639, 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 nameiADDG_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: Q9UEY8
Secondary accession number(s): D3DRA8
, O43243, Q5VU09, Q92773, Q9UEY7
<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: December 1, 2000
Last sequence update: May 1, 2000
Last modified: November 13, 2019
This is version 166 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, 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. SIMILARITY comments
    Index of protein domains and families
  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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again