UniProtKB - Q9Y4J8 (DTNA_HUMAN)
Dystrobrevin alpha
DTNA
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 237 – 284 | ZZ-typePROSITE-ProRule annotationAdd BLAST | 48 |
GO - Molecular functioni
- zinc ion binding Source: InterPro
GO - Biological processi
- chemical synaptic transmission Source: ProtInc
- neuromuscular synaptic transmission Source: ProtInc
- signal transduction Source: ProtInc
- striated muscle contraction Source: ProtInc
- synaptic signaling Source: GO_Central
Keywordsi
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9Y4J8 |
SIGNORi | Q9Y4J8 |
Protein family/group databases
TCDBi | 8.A.66.1.7, the dystrophin (dystrophin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Dystrobrevin alphaShort name: DTN-A Alternative name(s): Alpha-dystrobrevin Dystrophin-related protein 3 |
Gene namesi | Name:DTNA Synonyms:DRP3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3057, DTNA |
MIMi | 601239, gene |
neXtProti | NX_Q9Y4J8 |
VEuPathDBi | HostDB:ENSG00000134769.21 |
Subcellular locationi
Cytoplasm and Cytosol
Plasma membrane
- Cell membrane By similarity
Other locations
Note: In peripheral nerves, colocalizes with MAGEE1 in the Schwann cell membrane.By similarity
Cytoskeleton
- intermediate filament cytoskeleton Source: HPA
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- plasma membrane Source: GO_Central
Other locations
- cell junction Source: HPA
- cytoplasm Source: UniProtKB-SubCell
- protein-containing complex Source: MGI
- synapse Source: GO_Central
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Membrane, SynapsePathology & Biotechi
Involvement in diseasei
Left ventricular non-compaction 1 (LVNC1)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_026744 | 121 | P → L in LVNC1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104894654EnsemblClinVar. | 1 |
Keywords - Diseasei
Cardiomyopathy, Disease variantOrganism-specific databases
DisGeNETi | 1837 |
MalaCardsi | DTNA |
MIMi | 604169, phenotype |
OpenTargetsi | ENSG00000134769 |
Orphaneti | 54260, Left ventricular noncompaction |
PharmGKBi | PA27510 |
Miscellaneous databases
Pharosi | Q9Y4J8, Tbio |
Genetic variation databases
BioMutai | DTNA |
DMDMi | 229462840 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000080036 | 1 – 743 | Dystrobrevin alphaAdd BLAST | 743 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 662 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9Y4J8 |
jPOSTi | Q9Y4J8 |
MassIVEi | Q9Y4J8 |
PaxDbi | Q9Y4J8 |
PeptideAtlasi | Q9Y4J8 |
PRIDEi | Q9Y4J8 |
ProteomicsDBi | 4321 86213 [Q9Y4J8-1] 86214 [Q9Y4J8-10] 86215 [Q9Y4J8-2] 86216 [Q9Y4J8-3] 86217 [Q9Y4J8-4] 86218 [Q9Y4J8-5] 86219 [Q9Y4J8-6] 86220 [Q9Y4J8-7] 86221 [Q9Y4J8-8] 86222 [Q9Y4J8-9] |
PTM databases
iPTMneti | Q9Y4J8 |
PhosphoSitePlusi | Q9Y4J8 |
SwissPalmi | Q9Y4J8 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000134769, Expressed in intestine and 222 other tissues |
ExpressionAtlasi | Q9Y4J8, baseline and differential |
Genevisiblei | Q9Y4J8, HS |
Organism-specific databases
HPAi | ENSG00000134769, Group enriched (brain, heart muscle, skeletal muscle) |
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 similarityBinary interactionsi
Q9Y4J8
With | #Exp. | IntAct |
---|---|---|
CTNNAL1 [Q9UBT7] | 5 | EBI-949471,EBI-514206 |
Protein-protein interaction databases
BioGRIDi | 108170, 47 interactors |
CORUMi | Q9Y4J8 |
IntActi | Q9Y4J8, 32 interactors |
MINTi | Q9Y4J8 |
STRINGi | 9606.ENSP00000470152 |
Miscellaneous databases
RNActi | Q9Y4J8, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9Y4J8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9Y4J8 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 288 | Interaction with MAGEE1By similarityAdd BLAST | 288 | |
Regioni | 400 – 450 | Syntrophin-binding regionAdd BLAST | 51 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 461 – 556 | Sequence analysisAdd BLAST | 96 |
Domaini
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 237 – 284 | ZZ-typePROSITE-ProRule annotationAdd BLAST | 48 |
Keywords - Domaini
Coiled coil, Zinc-fingerPhylogenomic databases
eggNOGi | KOG4301, Eukaryota |
GeneTreei | ENSGT00940000153897 |
HOGENOMi | CLU_868655_0_0_1 |
InParanoidi | Q9Y4J8 |
OMAi | ACQVRSF |
PhylomeDBi | Q9Y4J8 |
TreeFami | TF343849 |
Family and domain databases
Gene3Di | 3.30.60.90, 1 hit |
InterProi | View protein in InterPro IPR017432, Distrobrevin IPR011992, EF-hand-dom_pair IPR015153, EF-hand_dom_typ1 IPR015154, EF-hand_dom_typ2 IPR000433, Znf_ZZ IPR043145, Znf_ZZ_sf |
Pfami | View protein in Pfam PF09068, EF-hand_2, 1 hit PF09069, EF-hand_3, 1 hit PF00569, ZZ, 1 hit |
PIRSFi | PIRSF038204, Distrobrevin, 1 hit |
SMARTi | View protein in SMART SM00291, ZnF_ZZ, 1 hit |
SUPFAMi | SSF47473, SSF47473, 2 hits |
PROSITEi | View protein in PROSITE PS01357, ZF_ZZ_1, 1 hit PS50135, ZF_ZZ_2, 1 hit |
s (16+)i Sequence
Sequence statusi: Complete.
This entry describes 16 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 16 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL
60 70 80 90 100
HLVDIWNVIE ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH
110 120 130 140 150
QIHVEQSISL LLNFLLAAFD PEGHGKISVF AVKMALATLC GGKIMDKLRY
160 170 180 190 200
IFSMISDSSG VMVYGRYDQF LREVLKLPTA VFEGPSFGYT EQSARSCFSQ
210 220 230 240 250
QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP VECSYCHSES
260 270 280 290 300
MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
310 320 330 340 350
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF
360 370 380 390 400
SHSVPSSGSP FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD
410 420 430 440 450
RLADEHVLIG LYVNMLRNNP SCMLESSNRL DEEHRLIARY AARLAAESSS
460 470 480 490 500
SQPPQQRSAP DISFTIDANK QQRQLIAELE NKNREILQEI QRLRLEHEQA
510 520 530 540 550
SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR ELMVQLEGLM
560 570 580 590 600
KLLKTQGAGS PRSSPSHTIS RPIPMPIRSA SACSTPTHTP QDSLTGVGGD
610 620 630 640 650
VQEAFAQSSR RNLRNDLLVA ADSITNTMSS LVKELNSEVG SETESNVDSE
660 670 680 690 700
FARTQFEDLV PSPTSEKAFL AQIHARKPGY IHSGATTSTM RGDMVTEDAD
710 720 730 740
PYVQPEDENY ENDSVRQLEN ELQMEEYLKQ KLQDEAYQVS LQG
The sequence of this isoform differs from the canonical sequence as follows:
1-318: Missing.
335-337: Missing.
365-422: SSPPKDSEVE...VNMLRNNPSC → RLPEGISASSPVAEEHSLIKLYVNQLDHGAR
The sequence of this isoform differs from the canonical sequence as follows:
1-318: Missing.
335-337: Missing.
364-365: RS → RRLPEGISASSPVAEEHSLIKLYVNQLDHGAR
The sequence of this isoform differs from the canonical sequence as follows:
202-451: Missing.
555-570: TQGAGSPRSSPSHTIS → EEELKQGVSYVPYCRS
571-743: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
335-337: Missing.
366-422: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
335-337: Missing.
366-422: Missing.
554-554: K → KEEELKQG
The sequence of this isoform differs from the canonical sequence as follows:
335-337: Missing.
366-422: Missing.
739-743: VSLQG → LHVSTETRLEHPCPVSETKWRVLFWGFVFFGGFLSLALQIYFWGLF
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.
Computationally mapped potential isoform sequencesi
There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketM0R0C4 | M0R0C4_HUMAN | Dystrobrevin alpha | DTNA | 169 | Annotation score: | ||
M0QZ28 | M0QZ28_HUMAN | Dystrobrevin alpha | DTNA | 365 | Annotation score: | ||
K7ERH7 | K7ERH7_HUMAN | Dystrobrevin alpha | DTNA | 109 | Annotation score: | ||
M0R021 | M0R021_HUMAN | Dystrobrevin alpha | DTNA | 162 | Annotation score: | ||
K7ER73 | K7ER73_HUMAN | Dystrobrevin alpha | DTNA | 104 | Annotation score: | ||
K7ESB2 | K7ESB2_HUMAN | Dystrobrevin alpha | DTNA | 101 | Annotation score: | ||
K7EJ84 | K7EJ84_HUMAN | Dystrobrevin alpha | DTNA | 119 | Annotation score: | ||
K7EMN1 | K7EMN1_HUMAN | Dystrobrevin alpha | DTNA | 33 | Annotation score: | ||
K7ENJ7 | K7ENJ7_HUMAN | Dystrobrevin alpha | DTNA | 43 | Annotation score: | ||
K7ERZ2 | K7ERZ2_HUMAN | Dystrobrevin alpha | DTNA | 133 | Annotation score: | ||
There is more potential isoformShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 45 | Q → H in AAB58541 (PubMed:10735273).Curated | 1 | |
Sequence conflicti | 45 | Q → H in AAB58542 (PubMed:10735273).Curated | 1 | |
Sequence conflicti | 45 | Q → H in AAB58543 (PubMed:10735273).Curated | 1 | |
Sequence conflicti | 64 | E → K in CAA08769 (PubMed:9701558).Curated | 1 | |
Sequence conflicti | 182 | F → L in AAC50426 (PubMed:8845841).Curated | 1 | |
Sequence conflicti | 182 | F → L in AAB58541 (PubMed:10735273).Curated | 1 | |
Sequence conflicti | 182 | F → L in AAB58542 (PubMed:10735273).Curated | 1 | |
Sequence conflicti | 182 | F → L in AAB58543 (PubMed:10735273).Curated | 1 | |
Sequence conflicti | 314 | E → K in AAC50430 (PubMed:8845841).Curated | 1 | |
Sequence conflicti | 558 – 561 | AGSP → SGTH in AAC50429 (PubMed:8845841).Curated | 4 | |
Sequence conflicti | 558 – 559 | AG → GV in AAC50431 (PubMed:8845841).Curated | 2 | |
Sequence conflicti | 565 | P → R in AAC50429 (PubMed:8845841).Curated | 1 | |
Sequence conflicti | 568 | T → S in AAC50429 (PubMed:8845841).Curated | 1 | |
Sequence conflicti | 689 | T → S in AAC50429 (PubMed:8845841).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_026744 | 121 | P → L in LVNC1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104894654EnsemblClinVar. | 1 | |
Natural variantiVAR_055320 | 180 | A → E2 PublicationsCorresponds to variant dbSNP:rs1048081Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_004206 | 1 – 318 | Missing in isoform 6, isoform 8, isoform 10 and isoform 11. 2 PublicationsAdd BLAST | 318 | |
Alternative sequenceiVSP_047532 | 202 – 451 | Missing in isoform 12. 1 PublicationAdd BLAST | 250 | |
Alternative sequenceiVSP_004207 | 335 – 337 | Missing in isoform 4, isoform 6, isoform 8, isoform 9, isoform 10, isoform 11, isoform 13, isoform 14, isoform 15 and isoform 16. 5 Publications | 3 | |
Alternative sequenceiVSP_045444 | 364 – 365 | RS → RRLPEGISASSPVAEEHSLI KLYVNQLDHGAR in isoform 11. 1 Publication | 2 | |
Alternative sequenceiVSP_043824 | 365 – 422 | SSPPK…NNPSC → RLPEGISASSPVAEEHSLIK LYVNQLDHGAR in isoform 10. 1 PublicationAdd BLAST | 58 | |
Alternative sequenceiVSP_004208 | 366 – 422 | Missing in isoform 2, isoform 5, isoform 8, isoform 13, isoform 14, isoform 15 and isoform 16. 3 PublicationsAdd BLAST | 57 | |
Alternative sequenceiVSP_004209 | 367 – 374 | PPKDSEVE → DGAFGGCV in isoform 7 and isoform 9. 4 Publications | 8 | |
Alternative sequenceiVSP_004210 | 375 – 743 | Missing in isoform 7 and isoform 9. 4 PublicationsAdd BLAST | 369 | |
Alternative sequenceiVSP_004211 | 392 – 422 | Missing in isoform 6. 1 PublicationAdd BLAST | 31 | |
Alternative sequenceiVSP_054816 | 554 | K → KEEELKQG in isoform 14. Curated | 1 | |
Alternative sequenceiVSP_004212 | 555 – 570 | TQGAG…SHTIS → EEELKQGVSYVPYCRS in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16. 2 PublicationsAdd BLAST | 16 | |
Alternative sequenceiVSP_004213 | 571 – 743 | Missing in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16. 2 PublicationsAdd BLAST | 173 | |
Alternative sequenceiVSP_054817 | 739 – 743 | VSLQG → LHVSTETRLEHPCPVSETKW RVLFWGFVFFGGFLSLALQI YFWGLF in isoform 15. Curated | 5 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2E5R | NMR | - | A | 237-292 | [»] | |
SMRi | Q9Y4J8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108170, 47 interactors |
CORUMi | Q9Y4J8 |
IntActi | Q9Y4J8, 32 interactors |
MINTi | Q9Y4J8 |
STRINGi | 9606.ENSP00000470152 |
Protein family/group databases
TCDBi | 8.A.66.1.7, the dystrophin (dystrophin) family |
PTM databases
iPTMneti | Q9Y4J8 |
PhosphoSitePlusi | Q9Y4J8 |
SwissPalmi | Q9Y4J8 |
Genetic variation databases
BioMutai | DTNA |
DMDMi | 229462840 |
Proteomic databases
EPDi | Q9Y4J8 |
jPOSTi | Q9Y4J8 |
MassIVEi | Q9Y4J8 |
PaxDbi | Q9Y4J8 |
PeptideAtlasi | Q9Y4J8 |
PRIDEi | Q9Y4J8 |
ProteomicsDBi | 4321 86213 [Q9Y4J8-1] 86214 [Q9Y4J8-10] 86215 [Q9Y4J8-2] 86216 [Q9Y4J8-3] 86217 [Q9Y4J8-4] 86218 [Q9Y4J8-5] 86219 [Q9Y4J8-6] 86220 [Q9Y4J8-7] 86221 [Q9Y4J8-8] 86222 [Q9Y4J8-9] |
Protocols and materials databases
Antibodypediai | 22242, 239 antibodies |
DNASUi | 1837 |
Genome annotation databases
Organism-specific databases
CTDi | 1837 |
DisGeNETi | 1837 |
GeneCardsi | DTNA |
HGNCi | HGNC:3057, DTNA |
HPAi | ENSG00000134769, Group enriched (brain, heart muscle, skeletal muscle) |
MalaCardsi | DTNA |
MIMi | 601239, gene 604169, phenotype |
neXtProti | NX_Q9Y4J8 |
OpenTargetsi | ENSG00000134769 |
Orphaneti | 54260, Left ventricular noncompaction |
PharmGKBi | PA27510 |
VEuPathDBi | HostDB:ENSG00000134769.21 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4301, Eukaryota |
GeneTreei | ENSGT00940000153897 |
HOGENOMi | CLU_868655_0_0_1 |
InParanoidi | Q9Y4J8 |
OMAi | ACQVRSF |
PhylomeDBi | Q9Y4J8 |
TreeFami | TF343849 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y4J8 |
SIGNORi | Q9Y4J8 |
Miscellaneous databases
BioGRID-ORCSi | 1837, 3 hits in 977 CRISPR screens |
ChiTaRSi | DTNA, human |
EvolutionaryTracei | Q9Y4J8 |
GeneWikii | DTNA |
GenomeRNAii | 1837 |
Pharosi | Q9Y4J8, Tbio |
PROi | PR:Q9Y4J8 |
RNActi | Q9Y4J8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000134769, Expressed in intestine and 222 other tissues |
ExpressionAtlasi | Q9Y4J8, baseline and differential |
Genevisiblei | Q9Y4J8, HS |
Family and domain databases
Gene3Di | 3.30.60.90, 1 hit |
InterProi | View protein in InterPro IPR017432, Distrobrevin IPR011992, EF-hand-dom_pair IPR015153, EF-hand_dom_typ1 IPR015154, EF-hand_dom_typ2 IPR000433, Znf_ZZ IPR043145, Znf_ZZ_sf |
Pfami | View protein in Pfam PF09068, EF-hand_2, 1 hit PF09069, EF-hand_3, 1 hit PF00569, ZZ, 1 hit |
PIRSFi | PIRSF038204, Distrobrevin, 1 hit |
SMARTi | View protein in SMART SM00291, ZnF_ZZ, 1 hit |
SUPFAMi | SSF47473, SSF47473, 2 hits |
PROSITEi | View protein in PROSITE PS01357, ZF_ZZ_1, 1 hit PS50135, ZF_ZZ_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DTNA_HUMAN | |
Accessioni | Q9Y4J8Primary (citable) accession number: Q9Y4J8 Secondary accession number(s): A8K541 Q9BS59 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 27, 2001 |
Last sequence update: | May 5, 2009 | |
Last modified: | April 7, 2021 | |
This is version 196 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families