Reviewed,
UniProtKB/Swiss-Prot P35612 (ADDB_HUMAN)
Last modified
November 24, 2009.
Version 92.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
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Names and origin
| Protein names | Recommended name: Beta-adducin Alternative name(s): Erythrocyte adducin subunit beta | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 726 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit. |
| Subunit structure | Heterodimer of an alpha and a beta subunit. |
| Subcellular location | Cytoplasm › cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. |
| Tissue specificity | Expressed mainly in brain, spleen, kidney cortex and medulla, and heart. Also expressed in human umbilical vein endothelial cells, human vascular smooth muscle cells, kidney tubular cells and K562 cells. Ref.2 |
| Developmental stage | Fetal kidney expresses isoforms 3, 4, 5, 6 and 7, and fetal liver expresses isoforms 3 and 4. Ref.2 |
| Domain | Each subunit is comprised of three regions: a NH2-terminal protease-resistant globular head region, a short connecting subdomain, and a protease-sensitive tail region. |
| Post-translational modification | The N-terminus is blocked. |
| Sequence similarities | Belongs to the aldolase class II family. Adducin subfamily. |
Ontologies
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: P35612-1) 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. | ||||||
| Isoform 2 (identifier: P35612-2) Also known as: Adducin 63; The sequence of this isoform differs from the canonical sequence as follows: 532-559: STESQLMSKGDEDTKDDSEETVPNPFSQ → VEQRLPLTGGETCLPSGSSVPGAGLQDP 560-726: Missing. | ||||||
| Isoform 3 (identifier: P35612-3) Also known as: Beta-4; E; The sequence of this isoform differs from the canonical sequence as follows: 581-726: GEKETAPEEP...KSKKKEKVES → ETGQEREPGS...QRRRQRQRAL | ||||||
| Isoform 4 (identifier: P35612-4) Also known as: Beta-4a; The sequence of this isoform differs from the canonical sequence as follows: 581-587: GEKETAP → APGWFSS 588-726: Missing. | ||||||
| Isoform 5 (identifier: P35612-5) Also known as: Beta-4b; The sequence of this isoform differs from the canonical sequence as follows: 188-493: Missing. 581-586: GEKETA → ETGQER 587-726: Missing. | ||||||
| Isoform 6 (identifier: P35612-6) Also known as: Beta-4c; The sequence of this isoform differs from the canonical sequence as follows: 188-493: Missing. 581-587: GEKETAP → APGWFSS 588-726: Missing. | ||||||
| Isoform 7 (identifier: P35612-7) Also known as: Beta-4d; The sequence of this isoform differs from the canonical sequence as follows: 78-566: Missing. 581-587: GEKETAP → APGWFSS 588-726: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed By similarity | ||||||
| Chain | 2 – 726 | 725 | Beta-adducin | PRO_0000218533 | |||||
Regions | |||||||||
| Region | 425 – 444 | 20 | Interaction with calmodulin Potential | ||||||
| Region | 704 – 721 | 18 | Interaction with calmodulin Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylserine By similarity | ||||||
| Modified residue | 55 | 1 | Phosphothreonine; by PKA Ref.10 | ||||||
| Modified residue | 532 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 535 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 592 | 1 | Phosphoserine | ||||||
| Modified residue | 596 | 1 | Phosphoserine | ||||||
| Modified residue | 600 | 1 | Phosphoserine | ||||||
| Modified residue | 604 | 1 | Phosphoserine | ||||||
| Modified residue | 688 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 693 | 1 | Phosphoserine | ||||||
| Modified residue | 697 | 1 | Phosphoserine | ||||||
| Modified residue | 699 | 1 | Phosphoserine | ||||||
| Modified residue | 703 | 1 | Phosphoserine; by PKC Ref.10 | ||||||
| Modified residue | 713 | 1 | Phosphoserine; by PKA and PKC Ref.10 | ||||||
Natural variations | |||||||||
| Alternative sequence | 78 – 566 | 489 | Missing in isoform 7. | VSP_017241 | |||||
| Alternative sequence | 188 – 493 | 306 | Missing in isoform 5 and isoform 6. | VSP_017242 | |||||
| Alternative sequence | 532 – 559 | 28 | STESQ…NPFSQ → VEQRLPLTGGETCLPSGSSV PGAGLQDP in isoform 2. | VSP_000181 | |||||
| Alternative sequence | 560 – 726 | 167 | Missing in isoform 2. | VSP_000182 | |||||
| Alternative sequence | 581 – 726 | 146 | GEKET…EKVES → ETGQEREPGSGPAVCEFFSV ALHIWSNILERKKLPQKSLA HLQSLHLLLQCRAQRRRQRQ RAL in isoform 3. | VSP_000183 | |||||
| Alternative sequence | 581 – 587 | 7 | GEKETAP → APGWFSS in isoform 4, isoform 6 and isoform 7. | VSP_017244 | |||||
| Alternative sequence | 581 – 586 | 6 | GEKETA → ETGQER in isoform 5. | VSP_017243 | |||||
| Alternative sequence | 587 – 726 | 140 | Missing in isoform 5. | VSP_017245 | |||||
| Alternative sequence | 588 – 726 | 139 | Missing in isoform 4, isoform 6 and isoform 7. | VSP_017246 | |||||
| Natural variant | 28 | 1 | D → N: dbSNP rs4986. | VAR_014866 | |||||
| Natural variant | 98 | 1 | S → C: dbSNP rs4987. | VAR_048195 | |||||
| Natural variant | 335 | 1 | E → D: dbSNP rs4982. | VAR_014867 | |||||
| Natural variant | 439 | 1 | T → A: dbSNP rs17855969. Ref.7 | VAR_025318 | |||||
| Natural variant | 663 | 1 | S → R: dbSNP rs4985. | VAR_014868 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Primary structure and domain organization of human alpha and beta adducin." Joshi R.L., Gilligan D.M., Otto E., McLaughlin T., Bennett V.D. J. Cell Biol. 115:665-675(1991) [PubMed: 1840603] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE. Tissue: Reticulocyte. |
| [2] | "Expression analysis of the human adducin gene family and evidence of ADD2 beta4 multiple splicing variants." Citterio L., Tizzoni L., Catalano M., Zerbini G., Bianchi G., Barlassina C. Biochem. Biophys. Res. Commun. 309:359-367(2003) [PubMed: 12951058] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5; 6 AND 7), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE. Tissue: Fetal kidney and Umbilical vein endothelial cell. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [4] | Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [5] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT ALA-439. Tissue: Eye. |
| [8] | "A novel isoform of beta adducin utilizes an alternatively spliced exon near the C-terminus." Sinard J.H., Stewart G.W., Argent A.C., Gilligan D.M., Morrow J.S. Mol. Biol. Cell 6:269-269(1995) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 332-726 (ISOFORM 3). Tissue: Bone marrow. |
| [9] | "Genomic organisation and chromosomal localisation of the gene encoding human beta adducin." Tisminetzky S., Devescovi G., Tripodi G., Muro A., Bianchi G., Colombi M., Moro L., Barlati S., Tuteja R., Baralle F.E. Gene 167:313-316(1995) [PubMed: 8566798] [Abstract] Cited for: ALTERNATIVE SPLICING. |
| [10] | "Adducin regulation. Definition of the calmodulin-binding domain and sites of phosphorylation by protein kinases A and C." Matsuoka Y., Hughes C.A., Bennett V. J. Biol. Chem. 271:25157-25166(1996) [PubMed: 8810272] [Abstract] Cited for: PHOSPHORYLATION AT THR-55; SER-703 AND SER-713, PARTIAL PROTEIN SEQUENCE. |
| [11] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-592; SER-596; SER-600; SER-604; SER-693; SER-697 AND SER-699, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| X58199 mRNA. Translation: CAA41176.1. AF486420 mRNA. Translation: AAP71863.1. AF486421 mRNA. Translation: AAP71864.1. AF486422 mRNA. Translation: AAP71865.1. AF486423 mRNA. Translation: AAP71866.1. AK291007 mRNA. Translation: BAF83696.1. AB209227 mRNA. Translation: BAD92464.1. Different initiation. AC005234 Genomic DNA. Translation: AAD12715.1. AC007395 Genomic DNA. No translation available. CH471053 Genomic DNA. Translation: EAW99807.1. BC041666 mRNA. Translation: AAH41666.1. BC051882 mRNA. Translation: AAH51882.1. BC056881 mRNA. Translation: AAH56881.1. BC065525 mRNA. Translation: AAH65525.1. U43959 mRNA. Translation: AAA86421.1. S81079, S81077 Genomic DNA. Translation: AAD14349.1. | |
| IPI | IPI00019904. IPI00181921. IPI00220240. IPI00220241. IPI00479049. IPI00654787. IPI00719156. |
| PIR | S18208. |
| RefSeq | NP_001608.1. NP_059522.1. |
| UniGene | Hs.188528 |
3D structure databases | |
| DisProt | DP00241. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | P35612. |
PTM databases | |
| PhosphoSite | P35612. |
Proteomic databases | |
| PRIDE | P35612. |
Genome annotation databases | |
| Ensembl | ENST00000264436; ENSP00000264436; ENSG00000075340; Homo sapiens. [Genome view] ENST00000403045; ENSP00000384303; ENSG00000075340; Homo sapiens. [Genome view] ENST00000407644; ENSP00000384677; ENSG00000075340; Homo sapiens. [Genome view] |
| GeneID | 119. |
| KEGG | hsa:119. |
| UCSC | uc002sgz.1. human. uc002shc.1. human. uc002shd.1. human. uc010fdt.1. human. |
Organism-specific databases | |
| CTD | 119. |
| GeneCards | GC02M070800. |
| H-InvDB | HIX0029808. |
| HGNC | HGNC:244. ADD2. |
| HPA | CAB009796. |
| MIM | 102681. gene. |
| PharmGKB | PA24566. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | P35612. |
| OMA | NFSMMTP |
| OrthoDB | EOG9HDWDW |
Gene expression databases | |
| ArrayExpress | P35612. |
| Bgee | P35612. |
| Genevestigator | P35612. |
| GermOnline | ENSG00000075340. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001303. Aldolase_II/adducin_N. [Graphical view] |
| Gene3D | G3DSA:3.40.225.10. Aldolase_II/adducin_N. 1 hit. |
| Pfam | PF00596. Aldolase_II. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 469. |
| SOURCE | Search... |
Entry information
| Entry name | ADDB_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P35612 Secondary accession number(s): A8K4P2 Q7Z691 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


