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Q9Y4J8

- DTNA_HUMAN

UniProt

Q9Y4J8 - DTNA_HUMAN

Protein

Dystrobrevin alpha

Gene

DTNA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 2 (05 May 2009)
      Previous versions | rss
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    Functioni

    May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri237 – 28448ZZ-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. protein binding Source: UniProtKB
    3. zinc ion binding Source: InterPro

    GO - Biological processi

    1. neuromuscular synaptic transmission Source: ProtInc
    2. signal transduction Source: ProtInc
    3. striated muscle contraction Source: ProtInc
    4. synaptic transmission Source: ProtInc

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dystrobrevin alpha
    Short name:
    DTN-A
    Alternative name(s):
    Alpha-dystrobrevin
    Dystrophin-related protein 3
    Gene namesi
    Name:DTNA
    Synonyms:DRP3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:3057. DTNA.

    Subcellular locationi

    Cytoplasm. Cell junctionsynapse. Cell membrane By similarity
    Note: In peripheral nerves, colocalizes with MAGEE1 in the Schwann cell membrane.By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. cytoplasm Source: UniProtKB-SubCell
    3. plasma membrane Source: UniProtKB-SubCell
    4. protein complex Source: MGI
    5. synapse Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cytoplasm, Membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    Left ventricular non-compaction 1 (LVNC1) [MIM:604169]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies such as ventricular septal defects, pulmonic stenosis and atrial septal defects. The right ventricle may also be affected.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti121 – 1211P → L in LVNC1. 1 Publication
    VAR_026744

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi604169. phenotype.
    Orphaneti54260. Left ventricular noncompaction.
    PharmGKBiPA27510.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 743743Dystrobrevin alphaPRO_0000080036Add
    BLAST

    Post-translational modificationi

    Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9Y4J8.
    PaxDbiQ9Y4J8.
    PRIDEiQ9Y4J8.

    PTM databases

    PhosphoSiteiQ9Y4J8.

    Expressioni

    Tissue specificityi

    Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only expressed in muscle.

    Gene expression databases

    ArrayExpressiQ9Y4J8.
    BgeeiQ9Y4J8.
    GenevestigatoriQ9Y4J8.

    Organism-specific databases

    HPAiCAB015196.

    Interactioni

    Subunit structurei

    Interacts with dystrophin, utrophin and the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2. Isoform 7 and isoform 8 do not interact with dystrophin. Binds dystrobrevin binding protein 1. Interacts with MAGEE1 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi108170. 17 interactions.
    IntActiQ9Y4J8. 6 interactions.
    MINTiMINT-129318.

    Structurei

    Secondary structure

    1
    743
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi244 – 2463
    Beta strandi255 – 2606
    Helixi268 – 2736
    Beta strandi278 – 2803
    Beta strandi286 – 2894

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2E5RNMR-A237-292[»]
    ProteinModelPortaliQ9Y4J8.
    SMRiQ9Y4J8. Positions 26-235, 237-292.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9Y4J8.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 288288Interaction with MAGEE1By similarityAdd
    BLAST
    Regioni400 – 45051Syntrophin-binding regionAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili461 – 55696Sequence AnalysisAdd
    BLAST

    Domaini

    The coiled coil domain mediates the interaction with dystrophin and utrophin.By similarity

    Sequence similaritiesi

    Contains 1 ZZ-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri237 – 28448ZZ-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG251970.
    HOGENOMiHOG000230684.
    HOVERGENiHBG005539.
    PhylomeDBiQ9Y4J8.
    TreeFamiTF343849.

    Family and domain databases

    Gene3Di1.10.238.10. 2 hits.
    InterProiIPR017432. Distrobrevin.
    IPR011992. EF-hand-dom_pair.
    IPR015153. EF-hand_dom_typ1.
    IPR015154. EF-hand_dom_typ2.
    IPR000433. Znf_ZZ.
    [Graphical view]
    PfamiPF09068. EF-hand_2. 1 hit.
    PF09069. EF-hand_3. 1 hit.
    PF00569. ZZ. 1 hit.
    [Graphical view]
    PIRSFiPIRSF038204. Distrobrevin. 1 hit.
    SMARTiSM00291. ZnF_ZZ. 1 hit.
    [Graphical view]
    PROSITEiPS01357. ZF_ZZ_1. 1 hit.
    PS50135. ZF_ZZ_2. 1 hit.
    [Graphical view]

    Sequences (16)i

    Sequence statusi: Complete.

    This entry describes 16 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q9Y4J8-1) [UniParc]FASTAAdd to Basket

    Also known as: DTN-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.

    « Hide

    MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL    50
    HLVDIWNVIE ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH 100
    QIHVEQSISL LLNFLLAAFD PEGHGKISVF AVKMALATLC GGKIMDKLRY 150
    IFSMISDSSG VMVYGRYDQF LREVLKLPTA VFEGPSFGYT EQSARSCFSQ 200
    QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP VECSYCHSES 250
    MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT 300
    NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF 350
    SHSVPSSGSP FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD 400
    RLADEHVLIG LYVNMLRNNP SCMLESSNRL DEEHRLIARY AARLAAESSS 450
    SQPPQQRSAP DISFTIDANK QQRQLIAELE NKNREILQEI QRLRLEHEQA 500
    SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR ELMVQLEGLM 550
    KLLKTQGAGS PRSSPSHTIS RPIPMPIRSA SACSTPTHTP QDSLTGVGGD 600
    VQEAFAQSSR RNLRNDLLVA ADSITNTMSS LVKELNSEVG SETESNVDSE 650
    FARTQFEDLV PSPTSEKAFL AQIHARKPGY IHSGATTSTM RGDMVTEDAD 700
    PYVQPEDENY ENDSVRQLEN ELQMEEYLKQ KLQDEAYQVS LQG 743
    Length:743
    Mass (Da):83,901
    Last modified:May 5, 2009 - v2
    Checksum:iCFD77DAA57D050EC
    GO
    Isoform 2 (identifier: Q9Y4J8-2) [UniParc]FASTAAdd to Basket

    Also known as: Dystrobrevin-alpha

    The sequence of this isoform differs from the canonical sequence as follows:
         366-422: Missing.

    Show »
    Length:686
    Mass (Da):77,653
    Checksum:iA0AC358D5A7E8D61
    GO
    Isoform 3 (identifier: Q9Y4J8-3) [UniParc]FASTAAdd to Basket

    Also known as: DTN-2

    The sequence of this isoform differs from the canonical sequence as follows:
         555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
         571-743: Missing.

    Show »
    Length:570
    Mass (Da):65,123
    Checksum:i319CDD0D278842DA
    GO
    Isoform 4 (identifier: Q9Y4J8-4) [UniParc]FASTAAdd to Basket

    Also known as: Dystrobrevin-beta

    The sequence of this isoform differs from the canonical sequence as follows:
         335-337: Missing.
         555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
         571-743: Missing.

    Show »
    Length:567
    Mass (Da):64,720
    Checksum:iD18F849D686A0BF7
    GO
    Isoform 5 (identifier: Q9Y4J8-5) [UniParc]FASTAAdd to Basket

    Also known as: Dystrobrevin-gamma

    The sequence of this isoform differs from the canonical sequence as follows:
         366-422: Missing.
         555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
         571-743: Missing.

    Show »
    Length:513
    Mass (Da):58,874
    Checksum:iBB7A7C93AC7FD90E
    GO
    Isoform 6 (identifier: Q9Y4J8-6) [UniParc]FASTAAdd to Basket

    Also known as: Dystrobrevin-epsilon

    The sequence of this isoform differs from the canonical sequence as follows:
         1-318: Missing.
         335-337: Missing.
         392-422: Missing.

    Show »
    Length:391
    Mass (Da):43,621
    Checksum:i953EACB49B22CA8F
    GO
    Isoform 7 (identifier: Q9Y4J8-7) [UniParc]FASTAAdd to Basket

    Also known as: DTN-3, Alpha-dystrobrevin-3, Dystrobrevin-delta

    The sequence of this isoform differs from the canonical sequence as follows:
         367-374: PPKDSEVE → DGAFGGCV
         375-743: Missing.

    Show »
    Length:374
    Mass (Da):42,394
    Checksum:i34DD5316D76B9F77
    GO
    Isoform 8 (identifier: Q9Y4J8-8) [UniParc]FASTAAdd to Basket

    Also known as: Dystrobrevin-zeta

    The sequence of this isoform differs from the canonical sequence as follows:
         1-318: Missing.
         335-337: Missing.
         366-422: Missing.
         555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
         571-743: Missing.

    Show »
    Length:192
    Mass (Da):22,108
    Checksum:iB9330D18C104D7CB
    GO
    Isoform 9 (identifier: Q9Y4J8-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         335-337: Missing.
         367-374: PPKDSEVE → DGAFGGCV
         375-743: Missing.

    Show »
    Length:371
    Mass (Da):41,991
    Checksum:i7A36F9D93508CF5F
    GO
    Isoform 10 (identifier: Q9Y4J8-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-318: Missing.
         335-337: Missing.
         365-422: SSPPKDSEVE...VNMLRNNPSC → RLPEGISASSPVAEEHSLIKLYVNQLDHGAR

    Show »
    Length:395
    Mass (Da):44,169
    Checksum:iE645282593EAF0C5
    GO
    Isoform 11 (identifier: Q9Y4J8-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-318: Missing.
         335-337: Missing.
         364-365: RS → RRLPEGISASSPVAEEHSLIKLYVNQLDHGAR

    Show »
    Length:452
    Mass (Da):50,417
    Checksum:i575B1197D5930A22
    GO
    Isoform 12 (identifier: Q9Y4J8-12) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         202-451: Missing.
         555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
         571-743: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:320
    Mass (Da):36,993
    Checksum:i42D8B729CB4CDD42
    GO
    Isoform 13 (identifier: Q9Y4J8-13) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         335-337: Missing.
         366-422: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:683
    Mass (Da):77,250
    Checksum:i53605C27261EF5A9
    GO
    Isoform 14 (identifier: Q9Y4J8-14) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         335-337: Missing.
         366-422: Missing.
         554-554: K → KEEELKQG

    Note: Gene prediction based on EST data.

    Show »
    Length:690
    Mass (Da):78,064
    Checksum:iBCF9F46A65915703
    GO
    Isoform 15 (identifier: Q9Y4J8-15) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         335-337: Missing.
         366-422: Missing.
         739-743: VSLQG → LHVSTETRLEHPCPVSETKWRVLFWGFVFFGGFLSLALQIYFWGLF

    Note: Gene prediction based on EST data.

    Show »
    Length:724
    Mass (Da):82,211
    Checksum:iBD26C22B17561B4C
    GO
    Isoform 16 (identifier: Q9Y4J8-16) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         335-337: Missing.
         366-422: Missing.
         555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
         571-743: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:510
    Mass (Da):58,472
    Checksum:i0B47B4F9EACCC42F
    GO

    Sequence cautioni

    The sequence BAD92339.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti45 – 451Q → H in AAB58541. (PubMed:10735273)Curated
    Sequence conflicti45 – 451Q → H in AAB58542. (PubMed:10735273)Curated
    Sequence conflicti45 – 451Q → H in AAB58543. (PubMed:10735273)Curated
    Sequence conflicti64 – 641E → K in CAA08769. (PubMed:9701558)Curated
    Sequence conflicti182 – 1821F → L in AAC50426. (PubMed:8845841)Curated
    Sequence conflicti182 – 1821F → L in AAB58541. (PubMed:10735273)Curated
    Sequence conflicti182 – 1821F → L in AAB58542. (PubMed:10735273)Curated
    Sequence conflicti182 – 1821F → L in AAB58543. (PubMed:10735273)Curated
    Sequence conflicti314 – 3141E → K in AAC50430. (PubMed:8845841)Curated
    Sequence conflicti558 – 5614AGSP → SGTH in AAC50429. (PubMed:8845841)Curated
    Sequence conflicti558 – 5592AG → GV in AAC50431. (PubMed:8845841)Curated
    Sequence conflicti565 – 5651P → R in AAC50429. (PubMed:8845841)Curated
    Sequence conflicti568 – 5681T → S in AAC50429. (PubMed:8845841)Curated
    Sequence conflicti689 – 6891T → S in AAC50429. (PubMed:8845841)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti121 – 1211P → L in LVNC1. 1 Publication
    VAR_026744
    Natural varianti180 – 1801A → E.2 Publications
    Corresponds to variant rs1048081 [ dbSNP | Ensembl ].
    VAR_055320

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 318318Missing in isoform 6, isoform 8, isoform 10 and isoform 11. 2 PublicationsVSP_004206Add
    BLAST
    Alternative sequencei202 – 451250Missing in isoform 12. 1 PublicationVSP_047532Add
    BLAST
    Alternative sequencei335 – 3373Missing in isoform 4, isoform 6, isoform 8, isoform 9, isoform 10, isoform 11, isoform 13, isoform 14, isoform 15 and isoform 16. 5 PublicationsVSP_004207
    Alternative sequencei364 – 3652RS → RRLPEGISASSPVAEEHSLI KLYVNQLDHGAR in isoform 11. 1 PublicationVSP_045444
    Alternative sequencei365 – 42258SSPPK…NNPSC → RLPEGISASSPVAEEHSLIK LYVNQLDHGAR in isoform 10. 1 PublicationVSP_043824Add
    BLAST
    Alternative sequencei366 – 42257Missing in isoform 2, isoform 5, isoform 8, isoform 13, isoform 14, isoform 15 and isoform 16. 3 PublicationsVSP_004208Add
    BLAST
    Alternative sequencei367 – 3748PPKDSEVE → DGAFGGCV in isoform 7 and isoform 9. 4 PublicationsVSP_004209
    Alternative sequencei375 – 743369Missing in isoform 7 and isoform 9. 4 PublicationsVSP_004210Add
    BLAST
    Alternative sequencei392 – 42231Missing in isoform 6. 1 PublicationVSP_004211Add
    BLAST
    Alternative sequencei554 – 5541K → KEEELKQG in isoform 14. CuratedVSP_054816
    Alternative sequencei555 – 57016TQGAG…SHTIS → EEELKQGVSYVPYCRS in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16. 2 PublicationsVSP_004212Add
    BLAST
    Alternative sequencei571 – 743173Missing in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16. 2 PublicationsVSP_004213Add
    BLAST
    Alternative sequencei739 – 7435VSLQG → LHVSTETRLEHPCPVSETKW RVLFWGFVFFGGFLSLALQI YFWGLF in isoform 15. CuratedVSP_054817

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U46744 mRNA. Translation: AAC50429.1.
    U46745 mRNA. Translation: AAC50430.1.
    U26744 mRNA. Translation: AAC50426.1.
    U46746 mRNA. Translation: AAC50431.1.
    U26742 mRNA. Translation: AAC50424.1.
    U26743 mRNA. Translation: AAC50425.1.
    AK294746 mRNA. Translation: BAG57887.1.
    AK295732 mRNA. Translation: BAG58572.1.
    AB209102 mRNA. Translation: BAD92339.1. Different initiation.
    AK291156 mRNA. Translation: BAF83845.1.
    AK295789 mRNA. Translation: BAG58610.1.
    U84551
    , U84529, U84530, U84531, U84532, U84533, U84534, U84535, U84536, U84537, U84538, U84539, U84541, U84542, U84543, U84544, U84545, U84546, U84548, U84549, U84550 Genomic DNA. Translation: AAB58543.1.
    U84547
    , U84529, U84530, U84531, U84532, U84533, U84534, U84535, U84536, U84537, U84538, U84539, U84541, U84542, U84543, U84544, U84545 Genomic DNA. Translation: AAB58542.1.
    U84540
    , U84529, U84530, U84531, U84532, U84533, U84534, U84535, U84536, U84537, U84538 Genomic DNA. Translation: AAB58541.1.
    AJ009668 mRNA. Translation: CAA08769.1.
    BT006937 mRNA. Translation: AAP35583.1.
    AC068506 Genomic DNA. No translation available.
    AC022601 Genomic DNA. No translation available.
    AC103768 Genomic DNA. No translation available.
    AC013290 Genomic DNA. No translation available.
    CH471088 Genomic DNA. Translation: EAX01319.1.
    CH471088 Genomic DNA. Translation: EAX01325.1.
    CH471088 Genomic DNA. Translation: EAX01328.1.
    BC005300 mRNA. Translation: AAH05300.1.
    CCDSiCCDS11908.1. [Q9Y4J8-4]
    CCDS11909.1. [Q9Y4J8-6]
    CCDS42426.1. [Q9Y4J8-7]
    CCDS45848.1. [Q9Y4J8-2]
    CCDS56060.1. [Q9Y4J8-9]
    CCDS56061.1. [Q9Y4J8-14]
    CCDS56062.1. [Q9Y4J8-11]
    CCDS56063.1. [Q9Y4J8-10]
    CCDS59309.1. [Q9Y4J8-5]
    CCDS59310.1. [Q9Y4J8-16]
    CCDS59311.1. [Q9Y4J8-13]
    CCDS59312.1. [Q9Y4J8-15]
    CCDS59313.1. [Q9Y4J8-12]
    CCDS59314.1. [Q9Y4J8-8]
    RefSeqiNP_001121647.1. NM_001128175.1. [Q9Y4J8-9]
    NP_001185867.1. NM_001198938.1. [Q9Y4J8-15]
    NP_001185868.1. NM_001198939.1. [Q9Y4J8-14]
    NP_001185869.1. NM_001198940.1. [Q9Y4J8-13]
    NP_001185870.1. NM_001198941.1. [Q9Y4J8-16]
    NP_001185871.1. NM_001198942.1. [Q9Y4J8-11]
    NP_001185873.1. NM_001198944.1. [Q9Y4J8-10]
    NP_001185874.1. NM_001198945.1. [Q9Y4J8-12]
    NP_001381.2. NM_001390.4. [Q9Y4J8-1]
    NP_001382.2. NM_001391.5. [Q9Y4J8-3]
    NP_001383.2. NM_001392.4. [Q9Y4J8-7]
    NP_116757.2. NM_032975.3. [Q9Y4J8-2]
    NP_116760.2. NM_032978.6. [Q9Y4J8-4]
    NP_116761.2. NM_032979.4. [Q9Y4J8-5]
    NP_116762.2. NM_032980.3. [Q9Y4J8-6]
    NP_116763.1. NM_032981.4. [Q9Y4J8-8]
    XP_006722469.1. XM_006722406.1. [Q9Y4J8-1]
    XP_006722471.1. XM_006722408.1. [Q9Y4J8-2]
    XP_006722472.1. XM_006722409.1. [Q9Y4J8-3]
    XP_006722473.1. XM_006722410.1. [Q9Y4J8-5]
    XP_006722478.1. XM_006722415.1. [Q9Y4J8-7]
    UniGeneiHs.643454.

    Genome annotation databases

    EnsembliENST00000269192; ENSP00000269192; ENSG00000134769. [Q9Y4J8-11]
    ENST00000283365; ENSP00000283365; ENSG00000134769. [Q9Y4J8-2]
    ENST00000315456; ENSP00000322519; ENSG00000134769. [Q9Y4J8-7]
    ENST00000348997; ENSP00000336682; ENSG00000134769. [Q9Y4J8-4]
    ENST00000399113; ENSP00000382064; ENSG00000134769. [Q9Y4J8-1]
    ENST00000399121; ENSP00000382072; ENSG00000134769. [Q9Y4J8-14]
    ENST00000444659; ENSP00000405819; ENSG00000134769. [Q9Y4J8-1]
    ENST00000554864; ENSP00000451516; ENSG00000134769. [Q9Y4J8-9]
    ENST00000556414; ENSP00000452255; ENSG00000134769. [Q9Y4J8-10]
    ENST00000591182; ENSP00000467720; ENSG00000134769. [Q9Y4J8-6]
    ENST00000595022; ENSP00000473078; ENSG00000134769. [Q9Y4J8-13]
    ENST00000596745; ENSP00000469121; ENSG00000134769. [Q9Y4J8-12]
    ENST00000597599; ENSP00000473119; ENSG00000134769. [Q9Y4J8-16]
    ENST00000597674; ENSP00000471783; ENSG00000134769. [Q9Y4J8-8]
    ENST00000598142; ENSP00000470716; ENSG00000134769. [Q9Y4J8-2]
    ENST00000598334; ENSP00000470152; ENSG00000134769. [Q9Y4J8-15]
    ENST00000598774; ENSP00000472031; ENSG00000134769. [Q9Y4J8-5]
    GeneIDi1837.
    KEGGihsa:1837.
    UCSCiuc002kxu.2. human. [Q9Y4J8-7]
    uc002kxv.4. human. [Q9Y4J8-5]
    uc002kxw.2. human. [Q9Y4J8-2]
    uc002kxx.2. human. [Q9Y4J8-9]
    uc002kyb.4. human. [Q9Y4J8-4]
    uc002kyd.4. human. [Q9Y4J8-8]
    uc002kye.3. human. [Q9Y4J8-6]
    uc010dml.3. human.
    uc010dmm.3. human. [Q9Y4J8-3]
    uc010dmn.1. human. [Q9Y4J8-1]
    uc010xbz.2. human.
    uc010xca.2. human. [Q9Y4J8-10]

    Polymorphism databases

    DMDMi229462840.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U46744 mRNA. Translation: AAC50429.1 .
    U46745 mRNA. Translation: AAC50430.1 .
    U26744 mRNA. Translation: AAC50426.1 .
    U46746 mRNA. Translation: AAC50431.1 .
    U26742 mRNA. Translation: AAC50424.1 .
    U26743 mRNA. Translation: AAC50425.1 .
    AK294746 mRNA. Translation: BAG57887.1 .
    AK295732 mRNA. Translation: BAG58572.1 .
    AB209102 mRNA. Translation: BAD92339.1 . Different initiation.
    AK291156 mRNA. Translation: BAF83845.1 .
    AK295789 mRNA. Translation: BAG58610.1 .
    U84551
    , U84529 , U84530 , U84531 , U84532 , U84533 , U84534 , U84535 , U84536 , U84537 , U84538 , U84539 , U84541 , U84542 , U84543 , U84544 , U84545 , U84546 , U84548 , U84549 , U84550 Genomic DNA. Translation: AAB58543.1 .
    U84547
    , U84529 , U84530 , U84531 , U84532 , U84533 , U84534 , U84535 , U84536 , U84537 , U84538 , U84539 , U84541 , U84542 , U84543 , U84544 , U84545 Genomic DNA. Translation: AAB58542.1 .
    U84540
    , U84529 , U84530 , U84531 , U84532 , U84533 , U84534 , U84535 , U84536 , U84537 , U84538 Genomic DNA. Translation: AAB58541.1 .
    AJ009668 mRNA. Translation: CAA08769.1 .
    BT006937 mRNA. Translation: AAP35583.1 .
    AC068506 Genomic DNA. No translation available.
    AC022601 Genomic DNA. No translation available.
    AC103768 Genomic DNA. No translation available.
    AC013290 Genomic DNA. No translation available.
    CH471088 Genomic DNA. Translation: EAX01319.1 .
    CH471088 Genomic DNA. Translation: EAX01325.1 .
    CH471088 Genomic DNA. Translation: EAX01328.1 .
    BC005300 mRNA. Translation: AAH05300.1 .
    CCDSi CCDS11908.1. [Q9Y4J8-4 ]
    CCDS11909.1. [Q9Y4J8-6 ]
    CCDS42426.1. [Q9Y4J8-7 ]
    CCDS45848.1. [Q9Y4J8-2 ]
    CCDS56060.1. [Q9Y4J8-9 ]
    CCDS56061.1. [Q9Y4J8-14 ]
    CCDS56062.1. [Q9Y4J8-11 ]
    CCDS56063.1. [Q9Y4J8-10 ]
    CCDS59309.1. [Q9Y4J8-5 ]
    CCDS59310.1. [Q9Y4J8-16 ]
    CCDS59311.1. [Q9Y4J8-13 ]
    CCDS59312.1. [Q9Y4J8-15 ]
    CCDS59313.1. [Q9Y4J8-12 ]
    CCDS59314.1. [Q9Y4J8-8 ]
    RefSeqi NP_001121647.1. NM_001128175.1. [Q9Y4J8-9 ]
    NP_001185867.1. NM_001198938.1. [Q9Y4J8-15 ]
    NP_001185868.1. NM_001198939.1. [Q9Y4J8-14 ]
    NP_001185869.1. NM_001198940.1. [Q9Y4J8-13 ]
    NP_001185870.1. NM_001198941.1. [Q9Y4J8-16 ]
    NP_001185871.1. NM_001198942.1. [Q9Y4J8-11 ]
    NP_001185873.1. NM_001198944.1. [Q9Y4J8-10 ]
    NP_001185874.1. NM_001198945.1. [Q9Y4J8-12 ]
    NP_001381.2. NM_001390.4. [Q9Y4J8-1 ]
    NP_001382.2. NM_001391.5. [Q9Y4J8-3 ]
    NP_001383.2. NM_001392.4. [Q9Y4J8-7 ]
    NP_116757.2. NM_032975.3. [Q9Y4J8-2 ]
    NP_116760.2. NM_032978.6. [Q9Y4J8-4 ]
    NP_116761.2. NM_032979.4. [Q9Y4J8-5 ]
    NP_116762.2. NM_032980.3. [Q9Y4J8-6 ]
    NP_116763.1. NM_032981.4. [Q9Y4J8-8 ]
    XP_006722469.1. XM_006722406.1. [Q9Y4J8-1 ]
    XP_006722471.1. XM_006722408.1. [Q9Y4J8-2 ]
    XP_006722472.1. XM_006722409.1. [Q9Y4J8-3 ]
    XP_006722473.1. XM_006722410.1. [Q9Y4J8-5 ]
    XP_006722478.1. XM_006722415.1. [Q9Y4J8-7 ]
    UniGenei Hs.643454.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2E5R NMR - A 237-292 [» ]
    ProteinModelPortali Q9Y4J8.
    SMRi Q9Y4J8. Positions 26-235, 237-292.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108170. 17 interactions.
    IntActi Q9Y4J8. 6 interactions.
    MINTi MINT-129318.

    PTM databases

    PhosphoSitei Q9Y4J8.

    Polymorphism databases

    DMDMi 229462840.

    Proteomic databases

    MaxQBi Q9Y4J8.
    PaxDbi Q9Y4J8.
    PRIDEi Q9Y4J8.

    Protocols and materials databases

    DNASUi 1837.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000269192 ; ENSP00000269192 ; ENSG00000134769 . [Q9Y4J8-11 ]
    ENST00000283365 ; ENSP00000283365 ; ENSG00000134769 . [Q9Y4J8-2 ]
    ENST00000315456 ; ENSP00000322519 ; ENSG00000134769 . [Q9Y4J8-7 ]
    ENST00000348997 ; ENSP00000336682 ; ENSG00000134769 . [Q9Y4J8-4 ]
    ENST00000399113 ; ENSP00000382064 ; ENSG00000134769 . [Q9Y4J8-1 ]
    ENST00000399121 ; ENSP00000382072 ; ENSG00000134769 . [Q9Y4J8-14 ]
    ENST00000444659 ; ENSP00000405819 ; ENSG00000134769 . [Q9Y4J8-1 ]
    ENST00000554864 ; ENSP00000451516 ; ENSG00000134769 . [Q9Y4J8-9 ]
    ENST00000556414 ; ENSP00000452255 ; ENSG00000134769 . [Q9Y4J8-10 ]
    ENST00000591182 ; ENSP00000467720 ; ENSG00000134769 . [Q9Y4J8-6 ]
    ENST00000595022 ; ENSP00000473078 ; ENSG00000134769 . [Q9Y4J8-13 ]
    ENST00000596745 ; ENSP00000469121 ; ENSG00000134769 . [Q9Y4J8-12 ]
    ENST00000597599 ; ENSP00000473119 ; ENSG00000134769 . [Q9Y4J8-16 ]
    ENST00000597674 ; ENSP00000471783 ; ENSG00000134769 . [Q9Y4J8-8 ]
    ENST00000598142 ; ENSP00000470716 ; ENSG00000134769 . [Q9Y4J8-2 ]
    ENST00000598334 ; ENSP00000470152 ; ENSG00000134769 . [Q9Y4J8-15 ]
    ENST00000598774 ; ENSP00000472031 ; ENSG00000134769 . [Q9Y4J8-5 ]
    GeneIDi 1837.
    KEGGi hsa:1837.
    UCSCi uc002kxu.2. human. [Q9Y4J8-7 ]
    uc002kxv.4. human. [Q9Y4J8-5 ]
    uc002kxw.2. human. [Q9Y4J8-2 ]
    uc002kxx.2. human. [Q9Y4J8-9 ]
    uc002kyb.4. human. [Q9Y4J8-4 ]
    uc002kyd.4. human. [Q9Y4J8-8 ]
    uc002kye.3. human. [Q9Y4J8-6 ]
    uc010dml.3. human.
    uc010dmm.3. human. [Q9Y4J8-3 ]
    uc010dmn.1. human. [Q9Y4J8-1 ]
    uc010xbz.2. human.
    uc010xca.2. human. [Q9Y4J8-10 ]

    Organism-specific databases

    CTDi 1837.
    GeneCardsi GC18P032073.
    HGNCi HGNC:3057. DTNA.
    HPAi CAB015196.
    MIMi 601239. gene.
    604169. phenotype.
    neXtProti NX_Q9Y4J8.
    Orphaneti 54260. Left ventricular noncompaction.
    PharmGKBi PA27510.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG251970.
    HOGENOMi HOG000230684.
    HOVERGENi HBG005539.
    PhylomeDBi Q9Y4J8.
    TreeFami TF343849.

    Miscellaneous databases

    ChiTaRSi DTNA. human.
    EvolutionaryTracei Q9Y4J8.
    GeneWikii DTNA.
    GenomeRNAii 1837.
    NextBioi 7499.
    PROi Q9Y4J8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y4J8.
    Bgeei Q9Y4J8.
    Genevestigatori Q9Y4J8.

    Family and domain databases

    Gene3Di 1.10.238.10. 2 hits.
    InterProi IPR017432. Distrobrevin.
    IPR011992. EF-hand-dom_pair.
    IPR015153. EF-hand_dom_typ1.
    IPR015154. EF-hand_dom_typ2.
    IPR000433. Znf_ZZ.
    [Graphical view ]
    Pfami PF09068. EF-hand_2. 1 hit.
    PF09069. EF-hand_3. 1 hit.
    PF00569. ZZ. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF038204. Distrobrevin. 1 hit.
    SMARTi SM00291. ZnF_ZZ. 1 hit.
    [Graphical view ]
    PROSITEi PS01357. ZF_ZZ_1. 1 hit.
    PS50135. ZF_ZZ_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane."
      Sadoulet-Puccio H.M., Khurana T.S., Cohen J.B., Kunkel L.M.
      Hum. Mol. Genet. 5:489-496(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 4; 5; 6; 7 AND 8), VARIANT GLU-180.
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 3 AND 7), VARIANT GLU-180.
    3. "Characterisation of alpha-dystrobrevin in muscle."
      Nawrotzki R., Loh N.Y., Ruegg M.A., Davies K.E., Blake D.J.
      J. Cell Sci. 111:2595-2605(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7).
      Tissue: Fetal brain.
    4. "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 (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 9).
    5. "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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 10; 11; 12 AND 16).
      Tissue: Brain, Hippocampus and Teratocarcinoma.
    6. "Homo sapiens protein coding cDNA."
      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 13).
      Tissue: Brain.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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] (ISOFORM 9).
      Tissue: Heart.
    10. "Syntrophin binds to an alternatively spliced exon of dystrophin."
      Ahn A.H., Kunkel L.M.
      J. Cell Biol. 128:363-371(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SNTB1.
    11. "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives."
      Ahn A.H., Feener C.A., Gussoni E., Yoshida M., Ozawa E., Kunkel L.M.
      J. Biol. Chem. 271:2724-2730(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SNTA1 AND SNTB2.
    12. "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.
    13. "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].
    14. "Solution structure of the ZZ domain of dystrobrevin alpha."
      RIKEN structural genomics initiative (RSGI)
      Submitted (JUN-2007) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 237-292.
    15. "Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome."
      Ichida F., Tsubata S., Bowles K.R., Haneda N., Uese K., Miyawaki T., Dreyer W.J., Messina J., Li H., Bowles N.E., Towbin J.A.
      Circulation 103:1256-1263(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LVNC1 LEU-121.

    Entry informationi

    Entry nameiDTNA_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y4J8
    Secondary accession number(s): A8K541
    , A8MSZ0, A8MUY4, B4DGS6, B4DIR0, B4DIU8, M0QYX6, M0R397, O15332, O15333, O75697, Q13197, Q13198, Q13199, Q13498, Q13499, Q13500, Q59GK7, Q9BS59
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 141 of the entry and version 2 of the sequence. [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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 18
      Human chromosome 18: 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. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3