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ADD1 adducin 1 [ Homo sapiens (human) ]

Gene ID: 118, updated on 4-Nov-2018

Summary

Official Symbol
ADD1provided by HGNC
Official Full Name
adducin 1provided by HGNC
Primary source
HGNC:HGNC:243
See related
Ensembl:ENSG00000087274 MIM:102680; Vega:OTTHUMG00000122080
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADDA
Summary
Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]
Expression
Ubiquitous expression in brain (RPKM 57.3), ovary (RPKM 51.1) and 25 other tissues See more
Orthologs

Genomic context

See ADD1 in Genome Data Viewer
Location:
4p16.3
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (2843857..2930076)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2845454..2931803)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723763 Neighboring gene SH3 domain binding protein 2 Neighboring gene nonconserved acetylation island sequence 125 enhancer Neighboring gene NOP14 antisense RNA 1 Neighboring gene major facilitator superfamily domain containing 10 Neighboring gene NOP14 nucleolar protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
    Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
  • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
    Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
  • Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystem (from REACTOME)
    Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystemCaspase-mediated cleavage of a number of proteins in the cortical actin network ( ) microfilament system and others involved in maintenance of the cytoskeletal architecture (vimentin, or Gas2 and ...
  • IRE1alpha activates chaperones, organism-specific biosystem (from REACTOME)
    IRE1alpha activates chaperones, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Miscellaneous transport and binding events, organism-specific biosystem (from REACTOME)
    Miscellaneous transport and binding events, organism-specific biosystemThis section contains known transport and binding events that as of yet cannot be placed in exisiting pathways (Purves 2001, He et al. 2009, Rees et al. 2009).
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
    Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
  • XBP1(S) activates chaperone genes, organism-specific biosystem (from REACTOME)
    XBP1(S) activates chaperone genes, organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3339, MGC44427

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
actin binding TAS
Traceable Author Statement
more info
PubMed 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
cadherin binding HDA PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
spectrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spectrin binding IDA
Inferred from Direct Assay
more info
PubMed 
structural molecule activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
 
actin cytoskeleton organization IC
Inferred by Curator
more info
PubMed 
actin filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament bundle assembly IDA
Inferred from Direct Assay
more info
PubMed 
barbed-end actin filament capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
barbed-end actin filament capping IDA
Inferred from Direct Assay
more info
PubMed 
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell volume homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
hemoglobin metabolic process IEA
Inferred from Electronic Annotation
more info
 
homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of adherens junction organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of adherens junction organization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of establishment of endothelial barrier IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of establishment of endothelial barrier IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
F-actin capping protein complex IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion HDA PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
alpha-adducin
Names
adducin 1 (alpha)
erythrocyte adducin alpha subunit

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

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

Genomic

  1. NG_012037.1 RefSeqGene

    Range
    5001..91220
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001119.4NP_001110.2  alpha-adducin isoform a

    See identical proteins and their annotated locations for NP_001110.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) utilizes an in-frame alternate splice site in the coding region, compared to variant 2. This results in a shorter protein (isoform a), compared to isoform b. Variants 1, 6, and 7 all encode the same isoform (a).
    Source sequence(s)
    BI460192, BU729599, CR995783, CX783962, X58141
    Consensus CDS
    CCDS43205.1
    UniProtKB/Swiss-Prot
    P35611
    Related
    ENSP00000381197.1, OTTHUMP00000151164, ENST00000398129.5, OTTHUMT00000242840
    Conserved Domains (2) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
    cl25756
    Location:584702
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  2. NM_001286645.1NP_001273574.1  alpha-adducin isoform e

    See identical proteins and their annotated locations for NP_001273574.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and contains two additional alternate exons compared to variant 1. The resulting isoform (e) has an alternate in-frame segment and a shorter and distinct C-terminus compared to isoform a. Variants 5 and 11 both encode the same isoform (e).
    Source sequence(s)
    BC042998, BU729599
    Consensus CDS
    CCDS75094.1
    UniProtKB/Swiss-Prot
    P35611
    Related
    ENSP00000348100.3, OTTHUMP00000151163, ENST00000355842.7, OTTHUMT00000242839
    Conserved Domains (1) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  3. NM_001354754.1NP_001341683.1  alpha-adducin isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 1 and 7, encodes isoform a.
    Source sequence(s)
    AL121750, AL390065, BX465861
    Consensus CDS
    CCDS43205.1
    Conserved Domains (2) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
    cl25756
    Location:584702
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  4. NM_001354755.1NP_001341684.1  alpha-adducin isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 1 and 6, encodes isoform a.
    Source sequence(s)
    AL121750, AL390065, BX465861
    Consensus CDS
    CCDS43205.1
    Conserved Domains (2) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
    cl25756
    Location:584702
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  5. NM_001354756.1NP_001341685.1  alpha-adducin isoform f

    Status: REVIEWED

    Source sequence(s)
    AL121750, AL390065, BX465861
    Conserved Domains (2) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
    cl27087
    Location:624725
    SPOR; Sporulation related domain
  6. NM_001354757.1NP_001341686.1  alpha-adducin isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 3 and 10, encodes isoform c.
    Source sequence(s)
    AL121750, AL390065, BX465861
    Conserved Domains (1) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  7. NM_001354758.1NP_001341687.1  alpha-adducin isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 3 and 9, encodes isoform c.
    Source sequence(s)
    AL121750, AL390065, BX465861
    Conserved Domains (1) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  8. NM_001354759.1NP_001341688.1  alpha-adducin isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variant 5, encodes isoform e.
    Source sequence(s)
    AL121750, AL390065, BX465861
    Consensus CDS
    CCDS75094.1
    Conserved Domains (1) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  9. NM_001354761.1NP_001341690.1  alpha-adducin isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) encodes the longest isoform (g).
    Source sequence(s)
    AL121750, AL390065, BX465861
    Conserved Domains (2) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
    cl25756
    Location:646764
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  10. NM_001354762.1NP_001341691.1  alpha-adducin isoform h

    Status: REVIEWED

    Source sequence(s)
    AL121750, AL390065, BX465861
    Conserved Domains (1) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  11. NM_014189.3NP_054908.2  alpha-adducin isoform b

    See identical proteins and their annotated locations for NP_054908.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform b.
    Source sequence(s)
    BI460192, BU729599, CA391117, CR995783, CX783962, X58141
    Consensus CDS
    CCDS3363.1
    UniProtKB/Swiss-Prot
    P35611
    Related
    ENSP00000264758.6, ENST00000264758.11
    Conserved Domains (2) summary
    pfam05466
    Location:615733
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  12. NM_014190.3NP_054909.2  alpha-adducin isoform c

    See identical proteins and their annotated locations for NP_054909.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an additional exon in the 3' coding region, which results in a frameshift, compared to variant 2. The encoded protein (isoform c) contains an early stop codon and shorter C-terminus, compared to isoform b. Variants 3, 9, and 10 all encode the same isoform (c).
    Source sequence(s)
    BC042998, BI460192, BU729599, CR995783, X58141
    UniProtKB/Swiss-Prot
    P35611
    Related
    ENSP00000421907.2, ENST00000513328.6
    Conserved Domains (1) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  13. NM_176801.2NP_789771.1  alpha-adducin isoform d

    See identical proteins and their annotated locations for NP_789771.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) utilizes an alternate splice site and includes an additional exon in the coding region, which results in a frameshift, compared to variant 2. The encoded protein (isoform d) contains an early stop codon and shorter C-terminus, compared to isoform b.
    Source sequence(s)
    BC042998, BI460192, BU729599, CA391117, CR995783, X58141
    Consensus CDS
    CCDS3364.1
    UniProtKB/Swiss-Prot
    P35611
    Related
    ENSP00000381193.1, ENST00000398125.5
    Conserved Domains (1) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    2843857..2930076
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007703.1XP_016863192.1  alpha-adducin isoform X1

    Conserved Domains (2) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
    cl25756
    Location:646764
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  2. XM_017007709.2XP_016863198.1  alpha-adducin isoform X6

    UniProtKB/Swiss-Prot
    P35611
    Conserved Domains (1) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  3. XM_017007706.2XP_016863195.1  alpha-adducin isoform X4

    UniProtKB/Swiss-Prot
    P35611
    Conserved Domains (2) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
    cl25756
    Location:584702
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  4. XM_005247934.2XP_005247991.1  alpha-adducin isoform X1

    See identical proteins and their annotated locations for XP_005247991.1

    Conserved Domains (2) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
    cl25756
    Location:646764
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  5. XM_017007704.1XP_016863193.1  alpha-adducin isoform X2

    UniProtKB/Swiss-Prot
    P35611
    Conserved Domains (2) summary
    pfam05466
    Location:615733
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  6. XM_024453887.1XP_024309655.1  alpha-adducin isoform X5

    Related
    ENSP00000381191.2, ENST00000398123.6
    Conserved Domains (1) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
  7. XM_017007705.1XP_016863194.1  alpha-adducin isoform X3

    Conserved Domains (2) summary
    cl00214
    Location:145391
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
    cl27087
    Location:624725
    SPOR; Sporulation related domain

RNA

  1. XR_002959706.1 RNA Sequence

  2. XR_002959707.1 RNA Sequence

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