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Protein

Gamma-adducin

Gene

ADD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

  • actin binding Source: UniProtKB-KW
  • calmodulin binding Source: UniProtKB-KW
  • structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionActin-binding, Calmodulin-binding

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events
SIGNORiQ9UEY8

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-adducin
Alternative name(s):
Adducin-like protein 70
Gene namesi
Name:ADD3
Synonyms:ADDL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000148700.13
HGNCiHGNC:245 ADD3
MIMi601568 gene
neXtProtiNX_Q9UEY8

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

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

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.
See also OMIM:617008
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

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi120
MalaCardsiADD3
MIMi617008 phenotype
OpenTargetsiENSG00000148700
Orphaneti210141 Inherited congenital spastic tetraplegia
PharmGKBiPA24567

Polymorphism and mutation databases

BioMutaiADD3
DMDMi12643881

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002185362 – 706Gamma-adducinAdd BLAST705

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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

Post-translational modificationi

Sumoylated.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9UEY8
PaxDbiQ9UEY8
PeptideAtlasiQ9UEY8
PRIDEiQ9UEY8
ProteomicsDBi84160
84161 [Q9UEY8-2]

PTM databases

iPTMnetiQ9UEY8
PhosphoSitePlusiQ9UEY8

Miscellaneous databases

PMAP-CutDBiQ9UEY8

Expressioni

Tissue specificityi

Isoform 1 is ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000148700 Expressed in 244 organ(s), highest expression level in secondary oocyte
CleanExiHS_ADD3
ExpressionAtlasiQ9UEY8 baseline and differential
GenevisibleiQ9UEY8 HS

Organism-specific databases

HPAiCAB009797
HPA035696

Interactioni

Subunit structurei

Heterodimer of an alpha and a gamma subunit.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106633, 37 interactors
IntActiQ9UEY8, 24 interactors
MINTiQ9UEY8
STRINGi9606.ENSP00000348381

Structurei

3D structure databases

ProteinModelPortaliQ9UEY8
SMRiQ9UEY8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni684 – 701Interaction with calmodulinSequence analysisAdd BLAST18

Domaini

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

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3699 Eukaryota
COG0235 LUCA
GeneTreeiENSGT00390000016462
HOGENOMiHOG000116349
HOVERGENiHBG004180
InParanoidiQ9UEY8
KOiK18622
OMAiEAFHYIF
OrthoDBiEOG091G0324
PhylomeDBiQ9UEY8
TreeFamiTF313003

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

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 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 '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
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
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
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
Alternative sequenceiVSP_000188576 – 607Missing in isoform 1. 3 PublicationsAdd BLAST32

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]
UniGeneiHs.501012

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]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

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]
UniGeneiHs.501012

3D structure databases

ProteinModelPortaliQ9UEY8
SMRiQ9UEY8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106633, 37 interactors
IntActiQ9UEY8, 24 interactors
MINTiQ9UEY8
STRINGi9606.ENSP00000348381

PTM databases

iPTMnetiQ9UEY8
PhosphoSitePlusiQ9UEY8

Polymorphism and mutation databases

BioMutaiADD3
DMDMi12643881

Proteomic databases

EPDiQ9UEY8
PaxDbiQ9UEY8
PeptideAtlasiQ9UEY8
PRIDEiQ9UEY8
ProteomicsDBi84160
84161 [Q9UEY8-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

CTDi120
DisGeNETi120
EuPathDBiHostDB:ENSG00000148700.13
GeneCardsiADD3
H-InvDBiHIX0170444
HGNCiHGNC:245 ADD3
HPAiCAB009797
HPA035696
MalaCardsiADD3
MIMi601568 gene
617008 phenotype
neXtProtiNX_Q9UEY8
OpenTargetsiENSG00000148700
Orphaneti210141 Inherited congenital spastic tetraplegia
PharmGKBiPA24567
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3699 Eukaryota
COG0235 LUCA
GeneTreeiENSGT00390000016462
HOGENOMiHOG000116349
HOVERGENiHBG004180
InParanoidiQ9UEY8
KOiK18622
OMAiEAFHYIF
OrthoDBiEOG091G0324
PhylomeDBiQ9UEY8
TreeFamiTF313003

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events
SIGNORiQ9UEY8

Miscellaneous databases

ChiTaRSiADD3 human
GeneWikiiADD3
GenomeRNAii120
PMAP-CutDBiQ9UEY8
PROiPR:Q9UEY8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148700 Expressed in 244 organ(s), highest expression level in secondary oocyte
CleanExiHS_ADD3
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
ProtoNetiSearch...

Entry informationi

Entry nameiADDG_HUMAN
AccessioniPrimary (citable) accession number: Q9UEY8
Secondary accession number(s): D3DRA8
, O43243, Q5VU09, Q92773, Q9UEY7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: September 12, 2018
This is version 157 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 10
    Human chromosome 10: 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
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