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Q9Y4J8 (DTNA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dystrobrevin alpha

Short name=DTN-A
Alternative name(s):
Alpha-dystrobrevin
Dystrophin-related protein 3
Gene names
Name:DTNA
Synonyms:DRP3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length743 AA.
Sequence statusComplete.
Protein existenceEvidence 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.10 Ref.11 Ref.12

Subcellular location

Cytoplasm. Cell junctionsynapse. Cell membrane By similarity. Note: In peripheral nerves, colocalizes 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 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. Ref.15

Sequence similarities

Belongs to the dystrophin family. Dystrobrevin subfamily.

Contains 1 ZZ-type zinc finger.

Sequence caution

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

Alternative products

This entry describes 16 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
Isoform 12 (identifier: Q9Y4J8-12)

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.
Isoform 13 (identifier: Q9Y4J8-13)

The sequence of this isoform differs from the canonical sequence as follows:
     335-337: Missing.
     366-422: Missing.
Note: No experimental confirmation available.
Isoform 14 (identifier: Q9Y4J8-14)

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.
Isoform 15 (identifier: Q9Y4J8-15)

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.
Isoform 16 (identifier: Q9Y4J8-16)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 743743Dystrobrevin alpha
PRO_0000080036

Regions

Zinc finger237 – 28448ZZ-type
Region1 – 288288Interaction with MAGEE1 By similarity
Region400 – 45051Syntrophin-binding region
Coiled coil461 – 55696 Potential

Natural variations

Alternative sequence1 – 318318Missing in isoform 6, isoform 8, isoform 10 and isoform 11.
VSP_004206
Alternative sequence202 – 451250Missing in isoform 12.
VSP_047532
Alternative sequence335 – 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 sequence364 – 3652RS → RRLPEGISASSPVAEEHSLI KLYVNQLDHGAR in isoform 11.
VSP_045444
Alternative sequence365 – 42258SSPPK…NNPSC → RLPEGISASSPVAEEHSLIK LYVNQLDHGAR in isoform 10.
VSP_043824
Alternative sequence366 – 42257Missing in isoform 2, isoform 5, isoform 8, isoform 13, isoform 14, isoform 15 and isoform 16.
VSP_004208
Alternative sequence367 – 3748PPKDSEVE → DGAFGGCV in isoform 7 and isoform 9.
VSP_004209
Alternative sequence375 – 743369Missing in isoform 7 and isoform 9.
VSP_004210
Alternative sequence392 – 42231Missing in isoform 6.
VSP_004211
Alternative sequence5541K → KEEELKQG in isoform 14.
VSP_054816
Alternative sequence555 – 57016TQGAG…SHTIS → EEELKQGVSYVPYCRS in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16.
VSP_004212
Alternative sequence571 – 743173Missing in isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16.
VSP_004213
Alternative sequence739 – 7435VSLQG → LHVSTETRLEHPCPVSETKW RVLFWGFVFFGGFLSLALQI YFWGLF in isoform 15.
VSP_054817
Natural variant1211P → L in LVNC1. Ref.15
VAR_026744
Natural variant1801A → E. Ref.1 Ref.2
Corresponds to variant rs1048081 [ dbSNP | Ensembl ].
VAR_055320

Experimental info

Sequence conflict451Q → H in AAB58541. Ref.2
Sequence conflict451Q → H in AAB58542. Ref.2
Sequence conflict451Q → H in AAB58543. Ref.2
Sequence conflict641E → K in CAA08769. Ref.3
Sequence conflict1821F → L in AAC50426. Ref.1
Sequence conflict1821F → L in AAB58541. Ref.2
Sequence conflict1821F → L in AAB58542. Ref.2
Sequence conflict1821F → L in AAB58543. Ref.2
Sequence conflict3141E → K in AAC50430. Ref.1
Sequence conflict558 – 5614AGSP → SGTH in AAC50429. Ref.1
Sequence conflict558 – 5592AG → GV in AAC50431. Ref.1
Sequence conflict5651P → R in AAC50429. Ref.1
Sequence conflict5681T → S in AAC50429. Ref.1
Sequence conflict6891T → S in AAC50429. Ref.1

Secondary structure

........... 743
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (DTN-1) [UniParc].

Last modified May 5, 2009. Version 2.
Checksum: CFD77DAA57D050EC

FASTA74383,901
        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 

« Hide

Isoform 2 (Dystrobrevin-alpha) [UniParc].

Checksum: A0AC358D5A7E8D61
Show »

FASTA68677,653
Isoform 3 (DTN-2) [UniParc].

Checksum: 319CDD0D278842DA
Show »

FASTA57065,123
Isoform 4 (Dystrobrevin-beta) [UniParc].

Checksum: D18F849D686A0BF7
Show »

FASTA56764,720
Isoform 5 (Dystrobrevin-gamma) [UniParc].

Checksum: BB7A7C93AC7FD90E
Show »

FASTA51358,874
Isoform 6 (Dystrobrevin-epsilon) [UniParc].

Checksum: 953EACB49B22CA8F
Show »

FASTA39143,621
Isoform 7 (DTN-3) (Alpha-dystrobrevin-3) (Dystrobrevin-delta) [UniParc].

Checksum: 34DD5316D76B9F77
Show »

FASTA37442,394
Isoform 8 (Dystrobrevin-zeta) [UniParc].

Checksum: B9330D18C104D7CB
Show »

FASTA19222,108
Isoform 9 [UniParc].

Checksum: 7A36F9D93508CF5F
Show »

FASTA37141,991
Isoform 10 [UniParc].

Checksum: E645282593EAF0C5
Show »

FASTA39544,169
Isoform 11 [UniParc].

Checksum: 575B1197D5930A22
Show »

FASTA45250,417
Isoform 12 [UniParc].

Checksum: 42D8B729CB4CDD42
Show »

FASTA32036,993
Isoform 13 [UniParc].

Checksum: 53605C27261EF5A9
Show »

FASTA68377,250
Isoform 14 [UniParc].

Checksum: BCF9F46A65915703
Show »

FASTA69078,064
Isoform 15 [UniParc].

Checksum: BD26C22B17561B4C
Show »

FASTA72482,211
Isoform 16 [UniParc].

Checksum: 0B47B4F9EACCC42F
Show »

FASTA51058,472

References

« Hide '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. expand/collapse author list , 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]"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. expand/collapse author list , 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].
[8]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. expand/collapse author list , 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].
[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.
+Additional computationally mapped references.

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.
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 expand/collapse EMBL AC list , 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 expand/collapse EMBL AC list , U84529, U84530, U84531, U84532, U84533, U84534, U84535, U84536, U84537, U84538, U84539, U84541, U84542, U84543, U84544, U84545 Genomic DNA. Translation: AAB58542.1.
U84540 expand/collapse EMBL AC list , 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.
CCDSCCDS11908.1. [Q9Y4J8-4]
CCDS11909.1. [Q9Y4J8-6]
CCDS42426.1. [Q9Y4J8-7]
CCDS45848.1. [Q9Y4J8-2]
CCDS56060.1. [Q9Y4J8-9]
CCDS56062.1. [Q9Y4J8-11]
CCDS56063.1. [Q9Y4J8-10]
CCDS59309.1. [Q9Y4J8-5]
CCDS59311.1. [Q9Y4J8-13]
CCDS59313.1. [Q9Y4J8-12]
CCDS59314.1. [Q9Y4J8-8]
RefSeqNP_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_005258280.1. XM_005258223.1. [Q9Y4J8-4]
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]
UniGeneHs.643454.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2E5RNMR-A237-292[»]
ProteinModelPortalQ9Y4J8.
SMRQ9Y4J8. Positions 26-235, 237-292.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108170. 17 interactions.
IntActQ9Y4J8. 6 interactions.
MINTMINT-129318.

PTM databases

PhosphoSiteQ9Y4J8.

Polymorphism databases

DMDM229462840.

Proteomic databases

MaxQBQ9Y4J8.
PaxDbQ9Y4J8.
PRIDEQ9Y4J8.

Protocols and materials databases

DNASU1837.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269191; 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]
GeneID1837.
KEGGhsa:1837.
UCSCuc002kxu.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]
uc010dmm.3. human. [Q9Y4J8-3]
uc010dmn.1. human. [Q9Y4J8-1]
uc010xbz.2. human.
uc010xca.2. human. [Q9Y4J8-10]

Organism-specific databases

CTD1837.
GeneCardsGC18P032073.
HGNCHGNC:3057. DTNA.
HPACAB015196.
MIM601239. gene.
604169. phenotype.
neXtProtNX_Q9Y4J8.
Orphanet54260. Left ventricular noncompaction.
PharmGKBPA27510.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG251970.
HOGENOMHOG000230684.
HOVERGENHBG005539.
PhylomeDBQ9Y4J8.
TreeFamTF343849.

Gene expression databases

ArrayExpressQ9Y4J8.
BgeeQ9Y4J8.
GenevestigatorQ9Y4J8.

Family and domain databases

Gene3D1.10.238.10. 2 hits.
InterProIPR017432. Distrobrevin.
IPR011992. EF-hand-dom_pair.
IPR015153. EF-hand_dom_typ1.
IPR015154. EF-hand_dom_typ2.
IPR000433. Znf_ZZ.
[Graphical view]
PfamPF09068. EF-hand_2. 1 hit.
PF09069. EF-hand_3. 1 hit.
PF00569. ZZ. 1 hit.
[Graphical view]
PIRSFPIRSF038204. Distrobrevin. 1 hit.
SMARTSM00291. ZnF_ZZ. 1 hit.
[Graphical view]
PROSITEPS01357. ZF_ZZ_1. 1 hit.
PS50135. ZF_ZZ_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDTNA. human.
EvolutionaryTraceQ9Y4J8.
GeneWikiDTNA.
GenomeRNAi1837.
NextBio7499.
PROQ9Y4J8.
SOURCESearch...

Entry information

Entry nameDTNA_HUMAN
AccessionPrimary (citable) accession number: Q9Y4J8
Secondary accession number(s): A8K541 expand/collapse secondary AC list , A8MSZ0, A8MUY4, B4DGS6, B4DIR0, B4DIU8, M0QYX6, M0R397, O15332, O15333, O75697, Q13197, Q13198, Q13199, Q13498, Q13499, Q13500, Q59GK7, Q9BS59
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 5, 2009
Last modified: July 9, 2014
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM