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UniProtKB - Q9Y4J8 (DTNA_HUMAN)

Protein

Dystrobrevin alpha

Gene

DTNA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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)DescriptionActionsGraphical viewLength
Zinc fingeri237 – 284ZZ-typePROSITE-ProRule annotationAdd BLAST48

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiQ9Y4J8

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000134769.21
HGNCiHGNC:3057 DTNA
MIMi601239 gene
neXtProtiNX_Q9Y4J8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Left ventricular non-compaction 1 (LVNC1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition.
See also OMIM:604169
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026744121P → L in LVNC1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104894654EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi1837
MalaCardsiDTNA
MIMi604169 phenotype
OpenTargetsiENSG00000134769
Orphaneti54260 Left ventricular noncompaction
PharmGKBiPA27510

Polymorphism and mutation databases

BioMutaiDTNA
DMDMi229462840

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000800361 – 743Dystrobrevin alphaAdd BLAST743

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei662PhosphoserineBy similarity1

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y4J8
PaxDbiQ9Y4J8
PeptideAtlasiQ9Y4J8
PRIDEiQ9Y4J8
ProteomicsDBi86213
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

iPTMnetiQ9Y4J8
PhosphoSitePlusiQ9Y4J8
SwissPalmiQ9Y4J8

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

BgeeiENSG00000134769 Expressed in 210 organ(s), highest expression level in medial globus pallidus
ExpressionAtlasiQ9Y4J8 baseline and differential
GenevisibleiQ9Y4J8 HS

Organism-specific databases

HPAiCAB015196
HPA071177

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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108170, 36 interactors
CORUMiQ9Y4J8
IntActiQ9Y4J8, 7 interactors
MINTiQ9Y4J8
STRINGi9606.ENSP00000382064

Structurei

Secondary structure

1743
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9Y4J8
SMRiQ9Y4J8
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y4J8

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 288Interaction with MAGEE1By similarityAdd BLAST288
Regioni400 – 450Syntrophin-binding regionAdd BLAST51

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili461 – 556Sequence analysisAdd BLAST96

Domaini

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

Sequence similaritiesi

Belongs to the dystrophin family. Dystrobrevin subfamily.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri237 – 284ZZ-typePROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiKOG4301 Eukaryota
ENOG410XP3C LUCA
GeneTreeiENSGT00760000119237
HOGENOMiHOG000230684
HOVERGENiHBG005539
InParanoidiQ9Y4J8
OMAiACQVRSF
OrthoDBiEOG091G02RL
PhylomeDBiQ9Y4J8
TreeFamiTF343849

Family and domain databases

InterProiView protein in InterPro
IPR017432 Distrobrevin
IPR011992 EF-hand-dom_pair
IPR015153 EF-hand_dom_typ1
IPR015154 EF-hand_dom_typ2
IPR000433 Znf_ZZ
PfamiView protein in Pfam
PF09068 EF-hand_2, 1 hit
PF09069 EF-hand_3, 1 hit
PF00569 ZZ, 1 hit
PIRSFiPIRSF038204 Distrobrevin, 1 hit
SMARTiView protein in SMART
SM00291 ZnF_ZZ, 1 hit
SUPFAMiSSF47473 SSF47473, 2 hits
PROSITEiView protein in PROSITE
PS01357 ZF_ZZ_1, 1 hit
PS50135 ZF_ZZ_2, 1 hit

Sequences (16+)i

Sequence statusi: Complete.

This entry describes 16 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 16 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

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
        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
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

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R0C4M0R0C4_HUMAN
Dystrobrevin alpha
DTNA
169Annotation score:
K7ERH7K7ERH7_HUMAN
Dystrobrevin alpha
DTNA
109Annotation score:
M0QZ28M0QZ28_HUMAN
Dystrobrevin alpha
DTNA
365Annotation score:
M0R021M0R021_HUMAN
Dystrobrevin alpha
DTNA
162Annotation score:
K7ER73K7ER73_HUMAN
Dystrobrevin alpha
DTNA
104Annotation score:
K7ESB2K7ESB2_HUMAN
Dystrobrevin alpha
DTNA
101Annotation score:
K7EJ84K7EJ84_HUMAN
Dystrobrevin alpha
DTNA
119Annotation score:
K7ERZ2K7ERZ2_HUMAN
Dystrobrevin alpha
DTNA
133Annotation score:
K7ENJ7K7ENJ7_HUMAN
Dystrobrevin alpha
DTNA
43Annotation score:
K7EMN1K7EMN1_HUMAN
Dystrobrevin alpha
DTNA
33Annotation score:
There is more potential isoformShow all

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti45Q → H in AAB58541 (PubMed:10735273).Curated1
Sequence conflicti45Q → H in AAB58542 (PubMed:10735273).Curated1
Sequence conflicti45Q → H in AAB58543 (PubMed:10735273).Curated1
Sequence conflicti64E → K in CAA08769 (PubMed:9701558).Curated1
Sequence conflicti182F → L in AAC50426 (PubMed:8845841).Curated1
Sequence conflicti182F → L in AAB58541 (PubMed:10735273).Curated1
Sequence conflicti182F → L in AAB58542 (PubMed:10735273).Curated1
Sequence conflicti182F → L in AAB58543 (PubMed:10735273).Curated1
Sequence conflicti314E → K in AAC50430 (PubMed:8845841).Curated1
Sequence conflicti558 – 561AGSP → SGTH in AAC50429 (PubMed:8845841).Curated4
Sequence conflicti558 – 559AG → GV in AAC50431 (PubMed:8845841).Curated2
Sequence conflicti565P → R in AAC50429 (PubMed:8845841).Curated1
Sequence conflicti568T → S in AAC50429 (PubMed:8845841).Curated1
Sequence conflicti689T → S in AAC50429 (PubMed:8845841).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026744121P → L in LVNC1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104894654EnsemblClinVar.1
Natural variantiVAR_055320180A → E2 PublicationsCorresponds to variant dbSNP:rs1048081Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0042061 – 318Missing in isoform 6, isoform 8, isoform 10 and isoform 11. 2 PublicationsAdd BLAST318
Alternative sequenceiVSP_047532202 – 451Missing in isoform 12. 1 PublicationAdd BLAST250
Alternative sequenceiVSP_004207335 – 337Missing in isoform 4, isoform 6, isoform 8, isoform 9, isoform 10, isoform 11, isoform 13, isoform 14, isoform 15 and isoform 16. 5 Publications3
Alternative sequenceiVSP_045444364 – 365RS → RRLPEGISASSPVAEEHSLI KLYVNQLDHGAR in isoform 11. 1 Publication2
Alternative sequenceiVSP_043824365 – 422SSPPK…NNPSC → RLPEGISASSPVAEEHSLIK LYVNQLDHGAR in isoform 10. 1 PublicationAdd BLAST58
Alternative sequenceiVSP_004208366 – 422Missing in isoform 2, isoform 5, isoform 8, isoform 13, isoform 14, isoform 15 and isoform 16. 3 PublicationsAdd BLAST57
Alternative sequenceiVSP_004209367 – 374PPKDSEVE → DGAFGGCV in isoform 7 and isoform 9. 4 Publications8
Alternative sequenceiVSP_004210375 – 743Missing in isoform 7 and isoform 9. 4 PublicationsAdd BLAST369
Alternative sequenceiVSP_004211392 – 422Missing in isoform 6. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_054816554K → KEEELKQG in isoform 14. Curated1
Alternative sequenceiVSP_004212555 – 570TQGAG…SHTIS → EEELKQGVSYVPYCRS in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16. 2 PublicationsAdd BLAST16
Alternative sequenceiVSP_004213571 – 743Missing in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16. 2 PublicationsAdd BLAST173
Alternative sequenceiVSP_054817739 – 743VSLQG → LHVSTETRLEHPCPVSETKW RVLFWGFVFFGGFLSLALQI YFWGLF in isoform 15. Curated5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_011524155.1, XM_011525853.2 [Q9Y4J8-16]
XP_016881066.1, XM_017025577.1 [Q9Y4J8-15]
XP_016881073.1, XM_017025584.1 [Q9Y4J8-2]
XP_016881076.1, XM_017025587.1 [Q9Y4J8-13]
XP_016881077.1, XM_017025588.1 [Q9Y4J8-13]
XP_016881078.1, XM_017025589.1 [Q9Y4J8-13]
XP_016881079.1, XM_017025590.1 [Q9Y4J8-13]
XP_016881080.1, XM_017025591.1 [Q9Y4J8-13]
XP_016881089.1, XM_017025600.1 [Q9Y4J8-7]
XP_016881090.1, XM_017025601.1 [Q9Y4J8-9]
XP_016881091.1, XM_017025602.1 [Q9Y4J8-9]
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.3 human [Q9Y4J8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_011524155.1, XM_011525853.2 [Q9Y4J8-16]
XP_016881066.1, XM_017025577.1 [Q9Y4J8-15]
XP_016881073.1, XM_017025584.1 [Q9Y4J8-2]
XP_016881076.1, XM_017025587.1 [Q9Y4J8-13]
XP_016881077.1, XM_017025588.1 [Q9Y4J8-13]
XP_016881078.1, XM_017025589.1 [Q9Y4J8-13]
XP_016881079.1, XM_017025590.1 [Q9Y4J8-13]
XP_016881080.1, XM_017025591.1 [Q9Y4J8-13]
XP_016881089.1, XM_017025600.1 [Q9Y4J8-7]
XP_016881090.1, XM_017025601.1 [Q9Y4J8-9]
XP_016881091.1, XM_017025602.1 [Q9Y4J8-9]
UniGeneiHs.643454

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E5RNMR-A237-292[»]
ProteinModelPortaliQ9Y4J8
SMRiQ9Y4J8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108170, 36 interactors
CORUMiQ9Y4J8
IntActiQ9Y4J8, 7 interactors
MINTiQ9Y4J8
STRINGi9606.ENSP00000382064

PTM databases

iPTMnetiQ9Y4J8
PhosphoSitePlusiQ9Y4J8
SwissPalmiQ9Y4J8

Polymorphism and mutation databases

BioMutaiDTNA
DMDMi229462840

Proteomic databases

EPDiQ9Y4J8
PaxDbiQ9Y4J8
PeptideAtlasiQ9Y4J8
PRIDEiQ9Y4J8
ProteomicsDBi86213
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

DNASUi1837
Structural Biology KnowledgebaseSearch...

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.3 human [Q9Y4J8-1]

Organism-specific databases

CTDi1837
DisGeNETi1837
EuPathDBiHostDB:ENSG00000134769.21
GeneCardsiDTNA
HGNCiHGNC:3057 DTNA
HPAiCAB015196
HPA071177
MalaCardsiDTNA
MIMi601239 gene
604169 phenotype
neXtProtiNX_Q9Y4J8
OpenTargetsiENSG00000134769
Orphaneti54260 Left ventricular noncompaction
PharmGKBiPA27510
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4301 Eukaryota
ENOG410XP3C LUCA
GeneTreeiENSGT00760000119237
HOGENOMiHOG000230684
HOVERGENiHBG005539
InParanoidiQ9Y4J8
OMAiACQVRSF
OrthoDBiEOG091G02RL
PhylomeDBiQ9Y4J8
TreeFamiTF343849

Enzyme and pathway databases

SIGNORiQ9Y4J8

Miscellaneous databases

ChiTaRSiDTNA human
EvolutionaryTraceiQ9Y4J8
GeneWikiiDTNA
GenomeRNAii1837
PROiPR:Q9Y4J8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134769 Expressed in 210 organ(s), highest expression level in medial globus pallidus
ExpressionAtlasiQ9Y4J8 baseline and differential
GenevisibleiQ9Y4J8 HS

Family and domain databases

InterProiView protein in InterPro
IPR017432 Distrobrevin
IPR011992 EF-hand-dom_pair
IPR015153 EF-hand_dom_typ1
IPR015154 EF-hand_dom_typ2
IPR000433 Znf_ZZ
PfamiView protein in Pfam
PF09068 EF-hand_2, 1 hit
PF09069 EF-hand_3, 1 hit
PF00569 ZZ, 1 hit
PIRSFiPIRSF038204 Distrobrevin, 1 hit
SMARTiView protein in SMART
SM00291 ZnF_ZZ, 1 hit
SUPFAMiSSF47473 SSF47473, 2 hits
PROSITEiView protein in PROSITE
PS01357 ZF_ZZ_1, 1 hit
PS50135 ZF_ZZ_2, 1 hit
ProtoNetiSearch...

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 historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 5, 2009
Last modified: November 7, 2018
This is version 180 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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