Q9Y4J8 (DTNA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dystrobrevin alpha
Short name=DTN-A

Alternative name(s):
Alpha-dystrobrevin
Dystrophin-related protein 3

Gene names

Name:	DTNA
Synonyms:	DRP3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	743 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.
Subunit structure	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. Ref.9 Ref.10 Ref.11
Subcellular location	Cytoplasm. Cell junction › synapse. Cell membrane By similarity. Note: In peripheral nerves, co-localizes with MAGEE1 in the Schwann cell membrane By similarity.
Tissue specificity	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.
Domain	The coiled coil domain mediates the interaction with dystrophin and utrophin By similarity.
Post-translational modification	Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus By similarity.
Involvement in disease	Left ventricular non-compaction 1 (LVNC1) [MIM:604169]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricule 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. Ref.14
Sequence similarities	Belongs to the dystrophin family. Dystrobrevin subfamily. Contains 1 ZZ-type zinc finger.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Cytoplasm Membrane Synapse
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Coiled coil Zinc-finger
Ligand	Metal-binding Zinc
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	neuromuscular synaptic transmission Traceable author statement PubMed 9119373. Source: ProtInc signal transduction Traceable author statement PubMed 10767327. Source: ProtInc striated muscle contraction Traceable author statement PubMed 10767327. Source: ProtInc
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell protein complex Inferred from direct assay PubMed 18468998. Source: MGI synapse Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 11 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q9Y4J8-1)

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.

Isoform 2 (identifier: Q9Y4J8-2)

Also known as: Dystrobrevin-alpha;

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

Isoform 3 (identifier: Q9Y4J8-3)

Also known as: DTN-2;

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

Isoform 4 (identifier: Q9Y4J8-4)

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.

Isoform 5 (identifier: Q9Y4J8-5)

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.

Isoform 6 (identifier: Q9Y4J8-6)

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.

Isoform 7 (identifier: Q9Y4J8-7)

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.

Isoform 8 (identifier: Q9Y4J8-8)

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.

Isoform 9 (identifier: Q9Y4J8-9)

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

Isoform 10 (identifier: Q9Y4J8-10)

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

Isoform 11 (identifier: Q9Y4J8-11)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 743

743

Dystrobrevin alpha

PRO_0000080036

Regions

Zinc finger

237 – 284

48

ZZ-type

Region

1 – 288

288

Interaction with MAGEE1 By similarity

Region

400 – 450

51

Syntrophin-binding region

Coiled coil

461 – 556

96

Potential

Natural variations

Alternative sequence

1 – 318

318

Missing in isoform 6, isoform 8, isoform 10 and isoform 11.

VSP_004206

Alternative sequence

335 – 337

3

Missing in isoform 4, isoform 6, isoform 8, isoform 9, isoform 10 and isoform 11.

VSP_004207

Alternative sequence

364 – 365

2

RS → RRLPEGISASSPVAEEHSLI KLYVNQLDHGAR in isoform 11.

VSP_045444

Alternative sequence

365 – 422

58

SSPPK…NNPSC → RLPEGISASSPVAEEHSLIK LYVNQLDHGAR in isoform 10.

VSP_043824

Alternative sequence

366 – 422

57

Missing in isoform 2, isoform 5 and isoform 8.

VSP_004208

Alternative sequence

367 – 374

8

PPKDSEVE → DGAFGGCV in isoform 7 and isoform 9.

VSP_004209

Alternative sequence

375 – 743

369

Missing in isoform 7 and isoform 9.

VSP_004210

Alternative sequence

392 – 422

31

Missing in isoform 6.

VSP_004211

Alternative sequence

555 – 570

16

TQGAG…SHTIS → EEELKQGVSYVPYCRS in isoform 3, isoform 4, isoform 5 and isoform 8.

VSP_004212

Alternative sequence

571 – 743

173

Missing in isoform 3, isoform 4, isoform 5 and isoform 8.

VSP_004213

Natural variant

121

1

P → L in LVNC1. Ref.14

VAR_026744

Natural variant

180

1

A → E. Ref.1 Ref.2
Corresponds to variant rs1048081 [ dbSNP | Ensembl ].

VAR_055320

Experimental info

Sequence conflict

45

1

Q → H in AAB58541. Ref.2

Sequence conflict

45

1

Q → H in AAB58542. Ref.2

Sequence conflict

45

1

Q → H in AAB58543. Ref.2

Sequence conflict

64

1

E → K in CAA08769. Ref.3

Sequence conflict

182

1

F → L in AAC50426. Ref.1

Sequence conflict

182

1

F → L in AAB58541. Ref.2

Sequence conflict

182

1

F → L in AAB58542. Ref.2

Sequence conflict

182

1

F → L in AAB58543. Ref.2

Sequence conflict

314

1

E → K in AAC50430. Ref.1

Sequence conflict

558 – 561

4

AGSP → SGTH in AAC50429. Ref.1

Sequence conflict

558 – 559

2

AG → GV in AAC50431. Ref.1

Sequence conflict

565

1

P → R in AAC50429. Ref.1

Sequence conflict

568

1

T → S in AAC50429. Ref.1

Sequence conflict

689

1

T → S in AAC50429. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

743

Helix Strand Turn

Details...

Beta strand

244 – 246

3

Beta strand

255 – 260

6

Helix

268 – 273

6

Beta strand

278 – 280

3

Beta strand

286 – 289

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (DTN-1) [UniParc]. Last modified May 5, 2009. Version 2. Checksum: CFD77DAA57D050EC	FASTA	743	83,901
	10 20 30 40 50 60 MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE 70 80 90 100 110 120 ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD 130 140 150 160 170 180 PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA 190 200 210 220 230 240 VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP 250 260 270 280 290 300 VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT 310 320 330 340 350 360 NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP 370 380 390 400 410 420 FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD RLADEHVLIG LYVNMLRNNP 430 440 450 460 470 480 SCMLESSNRL DEEHRLIARY AARLAAESSS SQPPQQRSAP DISFTIDANK QQRQLIAELE 490 500 510 520 530 540 NKNREILQEI QRLRLEHEQA SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR 550 560 570 580 590 600 ELMVQLEGLM KLLKTQGAGS PRSSPSHTIS RPIPMPIRSA SACSTPTHTP QDSLTGVGGD 610 620 630 640 650 660 VQEAFAQSSR RNLRNDLLVA ADSITNTMSS LVKELNSEVG SETESNVDSE FARTQFEDLV 670 680 690 700 710 720 PSPTSEKAFL AQIHARKPGY IHSGATTSTM RGDMVTEDAD PYVQPEDENY ENDSVRQLEN 730 740 ELQMEEYLKQ KLQDEAYQVS LQG
	Isoform 2 (Dystrobrevin-alpha) [UniParc]. Checksum: A0AC358D5A7E8D61	FASTA	686	77,653
	10 20 30 40 50 60 MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE 70 80 90 100 110 120 ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD 130 140 150 160 170 180 PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA 190 200 210 220 230 240 VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP 250 260 270 280 290 300 VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT 310 320 330 340 350 360 NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP 370 380 390 400 410 420 FITRSMLESS NRLDEEHRLI ARYAARLAAE SSSSQPPQQR SAPDISFTID ANKQQRQLIA 430 440 450 460 470 480 ELENKNREIL QEIQRLRLEH EQASQPTPEK AQQNPTLLAE LRLLRQRKDE LEQRMSALQE 490 500 510 520 530 540 SRRELMVQLE GLMKLLKTQG AGSPRSSPSH TISRPIPMPI RSASACSTPT HTPQDSLTGV 550 560 570 580 590 600 GGDVQEAFAQ SSRRNLRNDL LVAADSITNT MSSLVKELNS EVGSETESNV DSEFARTQFE 610 620 630 640 650 660 DLVPSPTSEK AFLAQIHARK PGYIHSGATT STMRGDMVTE DADPYVQPED ENYENDSVRQ 670 680 LENELQMEEY LKQKLQDEAY QVSLQG
	Isoform 3 (DTN-2) [UniParc]. Checksum: 319CDD0D278842DA	FASTA	570	65,123
	10 20 30 40 50 60 MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE 70 80 90 100 110 120 ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD 130 140 150 160 170 180 PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA 190 200 210 220 230 240 VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP 250 260 270 280 290 300 VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT 310 320 330 340 350 360 NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP 370 380 390 400 410 420 FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD RLADEHVLIG LYVNMLRNNP 430 440 450 460 470 480 SCMLESSNRL DEEHRLIARY AARLAAESSS SQPPQQRSAP DISFTIDANK QQRQLIAELE 490 500 510 520 530 540 NKNREILQEI QRLRLEHEQA SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR 550 560 570 ELMVQLEGLM KLLKEEELKQ GVSYVPYCRS
	Isoform 4 (Dystrobrevin-beta) [UniParc]. Checksum: D18F849D686A0BF7	FASTA	567	64,720
	10 20 30 40 50 60 MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE 70 80 90 100 110 120 ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD 130 140 150 160 170 180 PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA 190 200 210 220 230 240 VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP 250 260 270 280 290 300 VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT 310 320 330 340 350 360 NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVPPRPVT SMNDTLFSHS VPSSGSPFIT 370 380 390 400 410 420 RSSPPKDSEV EQNKLLARAA PAFLKGKGIQ YSLNVADRLA DEHVLIGLYV NMLRNNPSCM 430 440 450 460 470 480 LESSNRLDEE HRLIARYAAR LAAESSSSQP PQQRSAPDIS FTIDANKQQR QLIAELENKN 490 500 510 520 530 540 REILQEIQRL RLEHEQASQP TPEKAQQNPT LLAELRLLRQ RKDELEQRMS ALQESRRELM 550 560 VQLEGLMKLL KEEELKQGVS YVPYCRS
	Isoform 5 (Dystrobrevin-gamma) [UniParc]. Checksum: BB7A7C93AC7FD90E	FASTA	513	58,874
	10 20 30 40 50 60 MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE 70 80 90 100 110 120 ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD 130 140 150 160 170 180 PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA 190 200 210 220 230 240 VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP 250 260 270 280 290 300 VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT 310 320 330 340 350 360 NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP 370 380 390 400 410 420 FITRSMLESS NRLDEEHRLI ARYAARLAAE SSSSQPPQQR SAPDISFTID ANKQQRQLIA 430 440 450 460 470 480 ELENKNREIL QEIQRLRLEH EQASQPTPEK AQQNPTLLAE LRLLRQRKDE LEQRMSALQE 490 500 510 SRRELMVQLE GLMKLLKEEE LKQGVSYVPY CRS
	Isoform 6 (Dystrobrevin-epsilon) [UniParc]. Checksum: 953EACB49B22CA8F	FASTA	391	43,621
	10 20 30 40 50 60 MFPDQPEKPL NLAHIVPPRP VTSMNDTLFS HSVPSSGSPF ITRSSPPKDS EVEQNKLLAR 70 80 90 100 110 120 AAPAFLKGKG MLESSNRLDE EHRLIARYAA RLAAESSSSQ PPQQRSAPDI SFTIDANKQQ 130 140 150 160 170 180 RQLIAELENK NREILQEIQR LRLEHEQASQ PTPEKAQQNP TLLAELRLLR QRKDELEQRM 190 200 210 220 230 240 SALQESRREL MVQLEGLMKL LKTQGAGSPR SSPSHTISRP IPMPIRSASA CSTPTHTPQD 250 260 270 280 290 300 SLTGVGGDVQ EAFAQSSRRN LRNDLLVAAD SITNTMSSLV KELNSEVGSE TESNVDSEFA 310 320 330 340 350 360 RTQFEDLVPS PTSEKAFLAQ IHARKPGYIH SGATTSTMRG DMVTEDADPY VQPEDENYEN 370 380 390 DSVRQLENEL QMEEYLKQKL QDEAYQVSLQ G
	Isoform 7 (DTN-3) (Alpha-dystrobrevin-3) (Dystrobrevin-delta) [UniParc]. Checksum: 34DD5316D76B9F77	FASTA	374	42,394
	10 20 30 40 50 60 MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE 70 80 90 100 110 120 ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD 130 140 150 160 170 180 PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA 190 200 210 220 230 240 VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP 250 260 270 280 290 300 VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT 310 320 330 340 350 360 NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP 370 FITRSSDGAF GGCV
	Isoform 8 (Dystrobrevin-zeta) [UniParc]. Checksum: B9330D18C104D7CB	FASTA	192	22,108
	10 20 30 40 50 60 MFPDQPEKPL NLAHIVPPRP VTSMNDTLFS HSVPSSGSPF ITRSMLESSN RLDEEHRLIA 70 80 90 100 110 120 RYAARLAAES SSSQPPQQRS APDISFTIDA NKQQRQLIAE LENKNREILQ EIQRLRLEHE 130 140 150 160 170 180 QASQPTPEKA QQNPTLLAEL RLLRQRKDEL EQRMSALQES RRELMVQLEG LMKLLKEEEL 190 KQGVSYVPYC RS
	Isoform 9 [UniParc]. Checksum: 7A36F9D93508CF5F	FASTA	371	41,991
	10 20 30 40 50 60 MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE 70 80 90 100 110 120 ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD 130 140 150 160 170 180 PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA 190 200 210 220 230 240 VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP 250 260 270 280 290 300 VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT 310 320 330 340 350 360 NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVPPRPVT SMNDTLFSHS VPSSGSPFIT 370 RSSDGAFGGC V
	Isoform 10 [UniParc]. Checksum: E645282593EAF0C5	FASTA	395	44,169
	10 20 30 40 50 60 MFPDQPEKPL NLAHIVPPRP VTSMNDTLFS HSVPSSGSPF ITRRLPEGIS ASSPVAEEHS 70 80 90 100 110 120 LIKLYVNQLD HGARMLESSN RLDEEHRLIA RYAARLAAES SSSQPPQQRS APDISFTIDA 130 140 150 160 170 180 NKQQRQLIAE LENKNREILQ EIQRLRLEHE QASQPTPEKA QQNPTLLAEL RLLRQRKDEL 190 200 210 220 230 240 EQRMSALQES RRELMVQLEG LMKLLKTQGA GSPRSSPSHT ISRPIPMPIR SASACSTPTH 250 260 270 280 290 300 TPQDSLTGVG GDVQEAFAQS SRRNLRNDLL VAADSITNTM SSLVKELNSE VGSETESNVD 310 320 330 340 350 360 SEFARTQFED LVPSPTSEKA FLAQIHARKP GYIHSGATTS TMRGDMVTED ADPYVQPEDE 370 380 390 NYENDSVRQL ENELQMEEYL KQKLQDEAYQ VSLQG
	Isoform 11 [UniParc]. Checksum: 575B1197D5930A22	FASTA	452	50,417
	10 20 30 40 50 60 MFPDQPEKPL NLAHIVPPRP VTSMNDTLFS HSVPSSGSPF ITRRLPEGIS ASSPVAEEHS 70 80 90 100 110 120 LIKLYVNQLD HGARSPPKDS EVEQNKLLAR AAPAFLKGKG IQYSLNVADR LADEHVLIGL 130 140 150 160 170 180 YVNMLRNNPS CMLESSNRLD EEHRLIARYA ARLAAESSSS QPPQQRSAPD ISFTIDANKQ 190 200 210 220 230 240 QRQLIAELEN KNREILQEIQ RLRLEHEQAS QPTPEKAQQN PTLLAELRLL RQRKDELEQR 250 260 270 280 290 300 MSALQESRRE LMVQLEGLMK LLKTQGAGSP RSSPSHTISR PIPMPIRSAS ACSTPTHTPQ 310 320 330 340 350 360 DSLTGVGGDV QEAFAQSSRR NLRNDLLVAA DSITNTMSSL VKELNSEVGS ETESNVDSEF 370 380 390 400 410 420 ARTQFEDLVP SPTSEKAFLA QIHARKPGYI HSGATTSTMR GDMVTEDADP YVQPEDENYE 430 440 450 NDSVRQLENE LQMEEYLKQK LQDEAYQVSL QG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"The genomic organization of human dystrobrevin." Sadoulet-Puccio H.M., Feener C.A., Schaid D.J., Thibodeau S.N., Michels V.V., Kunkel L.M. Neurogenetics 1:37-42(1997) [PubMed] [Europe PMC] [Abstract] 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 AND 11). Tissue: Hippocampus.
[6]	"DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S. Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"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.
[9]	"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.
[10]	"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.
[11]	"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.
[12]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]	"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.
[14]	"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.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.
AK295732 mRNA. Translation: BAG58572.1.
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: EAX01328.1.
BC005300 mRNA. Translation: AAH05300.1.

IPI

IPI00177936.
IPI00218653.
IPI00218655.
IPI00296091.
IPI00402365.
IPI00749235.
IPI00929645.
IPI00938014.
IPI00942739.

RefSeq

NP_001121647.1. NM_001128175.1.
NP_001185867.1. NM_001198938.1.
NP_001185868.1. NM_001198939.1.
NP_001185871.1. NM_001198942.1.
NP_001185873.1. NM_001198944.1.
NP_001381.2. NM_001390.4.
NP_001382.2. NM_001391.5.
NP_001383.2. NM_001392.4.
NP_116757.2. NM_032975.3.
NP_116760.2. NM_032978.6.
NP_116761.2. NM_032979.4.
NP_116762.2. NM_032980.3.
NP_116763.1. NM_032981.4.

UniGene

Hs.643454.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2E5R	NMR	-	A	237-292	[»]

ProteinModelPortal

Q9Y4J8.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9Y4J8. 5 interactions.

MINT

MINT-129318.

PTM databases

PhosphoSite

Q9Y4J8.

Polymorphism databases

DMDM

229462840.

Proteomic databases

PaxDb

Q9Y4J8.

PRIDE

Q9Y4J8.

Protocols and materials databases

DNASU

1837.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000269191; ENSP00000269191; ENSG00000134769.
ENST00000269192; ENSP00000269192; ENSG00000134769.
ENST00000283365; ENSP00000283365; ENSG00000134769.
ENST00000315456; ENSP00000322519; ENSG00000134769.
ENST00000348997; ENSP00000336682; ENSG00000134769.
ENST00000399097; ENSP00000382048; ENSG00000134769.
ENST00000399113; ENSP00000382064; ENSG00000134769.
ENST00000444659; ENSP00000405819; ENSG00000134769.
ENST00000554864; ENSP00000451516; ENSG00000134769.
ENST00000556414; ENSP00000452255; ENSG00000134769.
ENST00000591182; ENSP00000467720; ENSG00000134769.
ENST00000597674; ENSP00000471783; ENSG00000134769.
ENST00000598142; ENSP00000470716; ENSG00000134769.
ENST00000598774; ENSP00000472031; ENSG00000134769.

GeneID

1837.

KEGG

hsa:1837.

UCSC

uc002kxu.2. human.
uc002kxv.4. human.
uc002kxw.2. human.
uc002kyb.4. human.
uc002kyd.4. human.
uc002kye.3. human.
uc010dmm.3. human.
uc010dmn.1. human.

Organism-specific databases

CTD

1837.

GeneCards

GC18P032073.

HGNC

HGNC:3057. DTNA.

HPA

CAB015196.

MIM

601239. gene.
604169. phenotype.

neXtProt

NX_Q9Y4J8.

Orphanet

54260. Left ventricular noncompaction.

PharmGKB

PA27510.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG251970.

HOGENOM

HOG000230684.

HOVERGEN

HBG005539.

Gene expression databases

ArrayExpress

Q9Y4J8.

Bgee

Q9Y4J8.

Genevestigator

Q9Y4J8.

GermOnline

ENSG00000134769. Homo sapiens.

Family and domain databases

Gene3D

1.10.238.10. 2 hits.

InterPro

IPR017432. Distrobrevin.
IPR011992. EF-hand-like_dom.
IPR015153. EF-hand_dom_typ1.
IPR015154. EF-hand_dom_typ2.
IPR000433. Znf_ZZ.
[Graphical view]

Pfam

PF09068. efhand_1. 1 hit.
PF09069. efhand_2. 1 hit.
PF00569. ZZ. 1 hit.
[Graphical view]

PIRSF

PIRSF038204. Distrobrevin. 1 hit.

SMART

SM00291. ZnF_ZZ. 1 hit.
[Graphical view]

PROSITE

PS01357. ZF_ZZ_1. 1 hit.
PS50135. ZF_ZZ_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

DTNA. human.

EvolutionaryTrace

Q9Y4J8.

GenomeRNAi

1837.

NextBio

7499.

SOURCE

Search...

Entry information

Entry name

DTNA_HUMAN

Accession

Primary (citable) accession number: Q9Y4J8
Secondary accession number(s): A8MSZ0 , A8MUY4, B4DIR0, B4DIU8, O15332, O15333, O75697, Q13197, Q13198, Q13199, Q13498, Q13499, Q13500, Q9BS59

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	May 5, 2009
Last modified:	May 1, 2013
This is version 126 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.