O60941 (DTNB_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 110.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Dystrobrevin beta Short name=DTN-B Alternative name(s): Beta-dystrobrevin | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference 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 | 627 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subunit structure | Interacts with dystrophin short form DP71 and syntrophins SNTG1 and SNTG2. Binds dystrobrevin binding protein 1 By similarity. Ref.9 |
| Subcellular location | |
| Tissue specificity | Highly expressed in brain, kidney and pancreas. |
| Domain | The coiled coil domain may mediate the interaction with dystrophin. |
| Sequence similarities | Belongs to the dystrophin family. Dystrobrevin subfamily. Contains 1 ZZ-type zinc finger. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Zinc-finger |
| Ligand | Metal-binding Zinc |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell synapseInferred from electronic annotation. Source: Compara |
| Molecular_function | calcium ion binding Inferred from electronic annotation. Source: InterPro zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: O60941-1) Also known as: DTN-B1; 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: O60941-2) Also known as: Dystrophin-associated protein A0; The sequence of this isoform differs from the canonical sequence as follows: 360-390: RLQYSQDIPSHLADEHALIASYVARLQHCAR → S 579-608: Missing. | ||||||
| Isoform 3 (identifier: O60941-3) Also known as: DTN-B2; The sequence of this isoform differs from the canonical sequence as follows: 526-558: AQATGSPHTSPTHGGGRPMPMPVRSTSAGSTPT → VSELRNFPPDSRSFARSSFPHINVSPLLPAHHL 559-627: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 4 (identifier: O60941-4) The sequence of this isoform differs from the canonical sequence as follows: 579-608: Missing. | ||||||
| Isoform 5 (identifier: O60941-5) The sequence of this isoform differs from the canonical sequence as follows: 360-390: RLQYSQDIPSHLADEHALIASYVARLQHCAR → S 519-525: Missing. 579-608: Missing. | ||||||
| Isoform 6 (identifier: O60941-6) The sequence of this isoform differs from the canonical sequence as follows: 1-57: Missing. 519-525: Missing. 609-626: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 7 (identifier: O60941-7) The sequence of this isoform differs from the canonical sequence as follows: 609-626: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 627 | 627 | Dystrobrevin beta | PRO_0000086878 | |||||
Regions | |||||||||
| Zinc finger | 237 – 284 | 48 | ZZ-type | ||||||
| Region | 399 – 448 | 50 | Syntrophin-binding region | ||||||
| Coiled coil | 428 – 529 | 102 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 57 | 57 | Missing in isoform 6. | VSP_045534 | |||||
| Alternative sequence | 360 – 390 | 31 | RLQYS…QHCAR → S in isoform 2 and isoform 5. | VSP_004223 | |||||
| Alternative sequence | 519 – 525 | 7 | Missing in isoform 5 and isoform 6. | VSP_043445 | |||||
| Alternative sequence | 526 – 558 | 33 | AQATG…GSTPT → VSELRNFPPDSRSFARSSFP HINVSPLLPAHHL in isoform 3. | VSP_004224 | |||||
| Alternative sequence | 559 – 627 | 69 | Missing in isoform 3. | VSP_004225 | |||||
| Alternative sequence | 579 – 608 | 30 | Missing in isoform 2, isoform 4 and isoform 5. | VSP_004226 | |||||
| Alternative sequence | 609 – 626 | 18 | Missing in isoform 6 and isoform 7. | VSP_045535 | |||||
| Natural variant | 97 | 1 | P → H. Ref.7 Corresponds to variant rs17854576 [ dbSNP | Ensembl ]. | VAR_069146 | |||||
| Natural variant | 116 | 1 | I → T. Ref.7 Corresponds to variant rs17854577 [ dbSNP | Ensembl ]. | VAR_069147 | |||||
Experimental info | |||||||||
| Sequence conflict | 102 | 1 | I → T in BAH13469. Ref.4 | ||||||
| Sequence conflict | 172 | 1 | K → T in BAH13469. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations." Peters M.F., O'Brien K.F., Sadoulet-Puccio H.M., Kunkel L.M., Adams M.E., Froehner S.C. J. Biol. Chem. 272:31561-31569(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Identification and characterization of a novel member of the dystrobrevin gene family." Puca A.A., Piluso V.N.G., Belsito A., Sampaolo S., Quaderi N., Rossi E., Di Iorio G., Ballabio A., Franco B. FEBS Lett. 425:7-13(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3). Tissue: Skeletal muscle. |
| [3] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). |
| [4] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6). Tissue: Synovium. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5 AND 7), VARIANTS HIS-97 AND THR-116. Tissue: Brain and Eye. |
| [8] | Yu W., Gibbs R.A. Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 200-627 (ISOFORM 4). Tissue: Brain. |
| [9] | "Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells." Piluso G., Mirabella M., Ricci E., Belsito A., Abbondanza C., Servidei S., Puca A.A., Tonali P., Puca G.A., Nigro V. J. Biol. Chem. 275:15851-15860(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH SNTG1 AND SNTG2. |
| [10] | "An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S). |
| [11] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [12] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF022728 mRNA. Translation: AAC05082.1. Y15722 mRNA. Translation: CAA75737.1. Y12712 mRNA. Translation: CAA73249.1. Y15718 mRNA. Translation: CAA75733.1. Y15719 mRNA. Translation: CAA75734.1. Y15720 mRNA. Translation: CAA75735.1. Y15721 mRNA. Translation: CAA75736.1. BT009805 mRNA. Translation: AAP88807.1. AK301386 mRNA. Translation: BAH13469.1. AC010150 Genomic DNA. No translation available. AC012074 Genomic DNA. No translation available. AC019144 Genomic DNA. No translation available. AC104699 Genomic DNA. No translation available. CH471053 Genomic DNA. Translation: EAX00719.1. CH471053 Genomic DNA. Translation: EAX00722.1. BC016655 mRNA. Translation: AAH16655.1. BC049366 mRNA. Translation: AAH49366.1. AF070567 mRNA. Translation: AAC28643.1. |
| IPI | IPI00219529. IPI00219530. IPI00299362. IPI00373897. IPI00941442. IPI01011160. |
| RefSeq | NP_001243232.1. NM_001256303.1. NP_001243233.1. NM_001256304.1. NP_001243237.1. NM_001256308.1. NP_068707.1. NM_021907.4. NP_149159.2. NM_033147.3. NP_149160.1. NM_033148.3. NP_899204.1. NM_183360.2. NP_899205.1. NM_183361.2. |
| UniGene | Hs.307720. |
3D structure databases | |
| ProteinModelPortal | O60941. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O60941. 14 interactions. |
| MINT | MINT-109678. |
| STRING | 9606.ENSP00000384084. |
PTM databases | |
| PhosphoSite | O60941. |
Proteomic databases | |
| PaxDb | O60941. |
| PRIDE | O60941. |
Protocols and materials databases | |
| DNASU | 1838. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000404103; ENSP00000385482; ENSG00000138101. ENST00000405222; ENSP00000384787; ENSG00000138101. ENST00000406818; ENSP00000384084; ENSG00000138101. ENST00000407038; ENSP00000384767; ENSG00000138101. ENST00000407661; ENSP00000385193; ENSG00000138101. ENST00000496972; ENSP00000444463; ENSG00000138101. |
| GeneID | 1838. |
| KEGG | hsa:1838. |
| UCSC | uc002rgh.3. human. uc002rgj.3. human. uc002rgk.3. human. uc002rgr.1. human. |
Organism-specific databases | |
| CTD | 1838. |
| GeneCards | GC02M025600. |
| HGNC | HGNC:3058. DTNB. |
| MIM | 602415. gene. |
| neXtProt | NX_O60941. |
| PharmGKB | PA27511. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG251970. |
| HOGENOM | HOG000230684. |
| HOVERGEN | HBG005539. |
| InParanoid | O60941. |
| OMA | PQELTHT. |
| OrthoDB | EOG40GCQ7. |
Gene expression databases | |
| ArrayExpress | O60941. |
| Bgee | O60941. |
| CleanEx | HS_DTNB. |
| Genevestigator | O60941. |
| GermOnline | ENSG00000138101. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.238.10. 2 hits. |
| InterPro | IPR017432. Distrobrevin. IPR011992. EF-hand-like_dom. IPR015153. EF-hand_dom_typ1. IPR015154. EF-hand_dom_typ2. IPR000433. Znf_ZZ. [Graphical view] |
| Pfam | PF09068. efhand_1. 1 hit. PF09069. efhand_2. 1 hit. PF00569. ZZ. 1 hit. [Graphical view] |
| PIRSF | PIRSF038204. Distrobrevin. 1 hit. |
| SMART | SM00291. ZnF_ZZ. 1 hit. [Graphical view] |
| PROSITE | PS01357. ZF_ZZ_1. 1 hit. PS50135. ZF_ZZ_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | DTNB. human. |
| GenomeRNAi | 1838. |
| NextBio | 7517. |
| SOURCE | Search... |
Entry information
| Entry name | DTNB_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O60941 Secondary accession number(s): B7Z733 Q9UE16 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| 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
