SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9Y4J8

- DTNA_HUMAN

UniProt

Q9Y4J8 - DTNA_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Dystrobrevin alpha
Gene
DTNA, DRP3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri237 – 28448ZZ-type
Add
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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 alpha
PRO_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.3 Publications

Protein-protein interaction databases

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

Structurei

Secondary structure

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.

Miscellaneous databases

EvolutionaryTraceiQ9Y4J8.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 288288Interaction with MAGEE1 By similarity
Add
BLAST
Regioni400 – 45051Syntrophin-binding region
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili461 – 55696 Reviewed prediction
Add
BLAST

Domaini

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

Sequence similaritiesi

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.

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.
VSP_004206Add
BLAST
Alternative sequencei202 – 451250Missing in isoform 12.
VSP_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.
VSP_004207
Alternative sequencei364 – 3652RS → RRLPEGISASSPVAEEHSLI KLYVNQLDHGAR in isoform 11.
VSP_045444
Alternative sequencei365 – 42258SSPPK…NNPSC → RLPEGISASSPVAEEHSLIK LYVNQLDHGAR in isoform 10.
VSP_043824Add
BLAST
Alternative sequencei366 – 42257Missing in isoform 2, isoform 5, isoform 8, isoform 13, isoform 14, isoform 15 and isoform 16.
VSP_004208Add
BLAST
Alternative sequencei367 – 3748PPKDSEVE → DGAFGGCV in isoform 7 and isoform 9.
VSP_004209
Alternative sequencei375 – 743369Missing in isoform 7 and isoform 9.
VSP_004210Add
BLAST
Alternative sequencei392 – 42231Missing in isoform 6.
VSP_004211Add
BLAST
Alternative sequencei554 – 5541K → KEEELKQG in isoform 14.
VSP_054816
Alternative sequencei555 – 57016TQGAG…SHTIS → EEELKQGVSYVPYCRS in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16.
VSP_004212Add
BLAST
Alternative sequencei571 – 743173Missing in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16.
VSP_004213Add
BLAST
Alternative sequencei739 – 7435VSLQG → LHVSTETRLEHPCPVSETKW RVLFWGFVFFGGFLSLALQI YFWGLF in isoform 15.
VSP_054817

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti45 – 451Q → H in AAB58541. 1 Publication
Sequence conflicti45 – 451Q → H in AAB58542. 1 Publication
Sequence conflicti45 – 451Q → H in AAB58543. 1 Publication
Sequence conflicti64 – 641E → K in CAA08769. 1 Publication
Sequence conflicti182 – 1821F → L in AAC50426. 1 Publication
Sequence conflicti182 – 1821F → L in AAB58541. 1 Publication
Sequence conflicti182 – 1821F → L in AAB58542. 1 Publication
Sequence conflicti182 – 1821F → L in AAB58543. 1 Publication
Sequence conflicti314 – 3141E → K in AAC50430. 1 Publication
Sequence conflicti558 – 5614AGSP → SGTH in AAC50429. 1 Publication
Sequence conflicti558 – 5592AG → GV in AAC50431. 1 Publication
Sequence conflicti565 – 5651P → R in AAC50429. 1 Publication
Sequence conflicti568 – 5681T → S in AAC50429. 1 Publication
Sequence conflicti689 – 6891T → S in AAC50429. 1 Publication

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

EnsembliENST00000269191; ENSP00000269191; ENSG00000134769. [Q9Y4J8-3]
ENST00000269192; ENSP00000269192; ENSG00000134769. [Q9Y4J8-11]
ENST00000283365; ENSP00000283365; ENSG00000134769. [Q9Y4J8-2]
ENST00000315456; ENSP00000322519; ENSG00000134769. [Q9Y4J8-7]
ENST00000348997; ENSP00000336682; ENSG00000134769. [Q9Y4J8-4]
ENST00000399097; ENSP00000382048; ENSG00000134769. [Q9Y4J8-6]
ENST00000399113; ENSP00000382064; ENSG00000134769. [Q9Y4J8-1]
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.
ENST00000597674; ENSP00000471783; ENSG00000134769. [Q9Y4J8-8]
ENST00000598142; ENSP00000470716; ENSG00000134769. [Q9Y4J8-2]
ENST00000598334; ENSP00000470152; ENSG00000134769.
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 ENST00000269191 ; ENSP00000269191 ; ENSG00000134769 . [Q9Y4J8-3 ]
ENST00000269192 ; ENSP00000269192 ; ENSG00000134769 . [Q9Y4J8-11 ]
ENST00000283365 ; ENSP00000283365 ; ENSG00000134769 . [Q9Y4J8-2 ]
ENST00000315456 ; ENSP00000322519 ; ENSG00000134769 . [Q9Y4J8-7 ]
ENST00000348997 ; ENSP00000336682 ; ENSG00000134769 . [Q9Y4J8-4 ]
ENST00000399097 ; ENSP00000382048 ; ENSG00000134769 . [Q9Y4J8-6 ]
ENST00000399113 ; ENSP00000382064 ; ENSG00000134769 . [Q9Y4J8-1 ]
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 .
ENST00000597674 ; ENSP00000471783 ; ENSG00000134769 . [Q9Y4J8-8 ]
ENST00000598142 ; ENSP00000470716 ; ENSG00000134769 . [Q9Y4J8-2 ]
ENST00000598334 ; ENSP00000470152 ; ENSG00000134769 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 140 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

Similar proteinsi