O75112 (LDB3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
LIM domain-binding protein 3

Alternative name(s):
Protein cypher
Z-band alternatively spliced PDZ-motif protein

Gene names

Name:	LDB3
Synonyms:	KIAA0613, ZASP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	727 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.
Subunit structure	Interacts via its LIM domains with various PKC isoforms By similarity. Interacts via its PDZ domain with the ACTN2 C-terminal region. Interacts with MYOZ1, MYOZ2 and MYOZ3. Ref.1 Ref.7 UniProtKB Q9JKS4
Subcellular location	Cytoplasm › perinuclear region. Cell projection › pseudopodium. Cytoplasm › cytoskeleton. Cytoplasm › myofibril › sarcomere › Z line. Note: Localized to the cytoplasm around nuclei and pseudopodia of undifferentiated cells and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2 at the Z-lines. Ref.1
Tissue specificity	Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta. Ref.1
Involvement in disease	Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Ref.9 Ref.10 Defects in LDB3 are the cause of left ventricular non-compaction type 3 (LVNC3) [MIM:601493]. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. Defects in LDB3 are the cause of myopathy myofibrillar type 4 (MFM4) [MIM:609452]. A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy.
Sequence similarities	Contains 3 LIM zinc-binding domains. Contains 1 PDZ (DHR) domain.
Sequence caution	The sequence BAA31588.1 differs from that shown. Reason: Erroneous initiation. Isoform 6: The sequence CAB46727.1 differs from that shown. Reason: Frameshift at positions 250 and 258. Isoform 6: The sequence AAQ14317.1 differs from that shown. Reason: Frameshift at positions 231 and 258.

Ontologies

Keywords
Cellular component	Cell projection Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cardiomyopathy Disease mutation Myofibrillar myopathy
Domain	LIM domain Repeat
Ligand	Metal-binding Zinc
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	Z disc Inferred from electronic annotation. Source: UniProtKB-SubCell cytoskeleton Inferred from direct assay Ref.1. Source: UniProtKB perinuclear region of cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell pseudopodium Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction Ref.1. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O75112-1) 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.
Note: No experimental confirmation available.
Isoform 2 Ref.1 (identifier: O75112-2) The sequence of this isoform differs from the canonical sequence as follows:      108-229: DPALDTNGSL...GKASGVGLPG → VVVNSPANAD...QAQAQGSDFS      299-361: Missing.
Sequence annotation (Features)
	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
	Natural variant	117	1	D → N in dilated cardiomyopathy with left ventricular non-compaction.
	Natural variant	136	1	K → M in dilated cardiomyopathy with left ventricular non-compaction.
	Natural variant	147	1	A → T in MFM4.
	Natural variant	165	1	A → V in MFM4.
Isoform 3 Ref.1 (identifier: O75112-3) The sequence of this isoform differs from the canonical sequence as follows:      108-364: Missing.
Isoform 4 Ref.2 (identifier: O75112-4) The sequence of this isoform differs from the canonical sequence as follows:      230-230: G → GADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSG      299-329: STPIEHAPVCTSQATTPLLPASAQPPAAASP → RERFETERNSPRFAKLRNWHHGLSAQILNVK      331-727: Missing.
Sequence annotation (Features)
	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
	Natural variant	232	1	D → N in dilated cardiomyopathy with left ventricular non-compaction.
	Natural variant	251	1	K → M in dilated cardiomyopathy with left ventricular non-compaction.
	Natural variant	262	1	A → T in MFM4.
	Natural variant	280	1	A → V in MFM4.
	Natural variant	383	1	R → C in MFM4.
Isoform 5 Ref.2 (identifier: O75112-5) The sequence of this isoform differs from the canonical sequence as follows:      299-329: STPIEHAPVCTSQATTPLLPASAQPPAAASP → RERFETERNSPRFAKLRNWHHGLSAQILNVK      331-727: Missing.
Sequence annotation (Features)
	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
	Natural variant	315	1	R → C in MFM-ZASP.
Isoform 6 Ref.1 Ref.2 (identifier: O75112-6) The sequence of this isoform differs from the canonical sequence as follows:      108-229: DPALDTNGSL...GKASGVGLPG → VVVNSPANAD...QAQAQGSDFS      299-329: STPIEHAPVCTSQATTPLLPASAQPPAAASP → RERFETERNSPRFAKLRNWHHGLSAQILNVK      331-727: Missing.
Sequence annotation (Features)
	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
	Natural variant	147	1	A → T in MFM4.
	Natural variant	165	1	A → V in MFM4.
	Natural variant	268	1	R → C in MFM4.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 727

727

LIM domain-binding protein 3

PRO_0000075767

Regions

Domain

1 – 84

84

PDZ

Domain

549 – 607

59

LIM zinc-binding 1

Domain

608 – 667

60

LIM zinc-binding 2

Domain

668 – 727

60

LIM zinc-binding 3

Natural variations

Alternative sequence

108 – 364

257

Missing in isoform 3. Ref.1

VSP_051897

Alternative sequence

108 – 229

122

DPALD…VGLPG → VVVNSPANADYQERFNPSAL KDSALSTHKPIEVKGLGGKA TIIHAQYNTPISMYSQDAIM DAIAGQAQAQGSDFS in isoform 2 and isoform 6. Ref.1 Ref.2

VSP_051898

Alternative sequence

230

1

G → GADYQERFNPSALKDSALST HKPIEVKGLGGKATIIHAQY NTPISMYSQDAIMDAIAGQA QAQGSDFSG in isoform 4. Ref.2

VSP_051899

Alternative sequence

299 – 361

63

Missing in isoform 2. Ref.1

VSP_051900

Alternative sequence

299 – 329

31

STPIE…AAASP → RERFETERNSPRFAKLRNWH HGLSAQILNVK in isoform 4, isoform 5 and isoform 6. Ref.1 Ref.2

VSP_051901

Alternative sequence

331 – 727

397

Missing in isoform 4, isoform 5 and isoform 6. Ref.1 Ref.2

VSP_051902

Natural variant

55

1

V → I. Ref.10
Corresponds to variant rs3740343 [ dbSNP | Ensembl ].

VAR_024008

Natural variant

101

1

P → L.
Corresponds to variant rs45592139 [ dbSNP | Ensembl ].

VAR_050146

Natural variant

189

1

S → L in CMD1C. Ref.9
Corresponds to variant rs45487699 [ dbSNP | Ensembl ].

VAR_024009

Natural variant

206

1

T → I in CMD1C. Ref.9

VAR_024010

Natural variant

345

1

I → M in CMD1C. Ref.9

VAR_024011

Natural variant

635

1

V → I. Ref.10
Corresponds to variant rs45618633 [ dbSNP | Ensembl ].

VAR_024012

Natural variant

673

1

D → N in CMD1C. Ref.10
Corresponds to variant rs45514002 [ dbSNP | Ensembl ].

VAR_024013

Experimental info

Sequence conflict

365 – 368

4

ASSY → VVVN in CAB46729. Ref.1

Sequence conflict

372

1

V → N in CAB46729. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

727

Helix Strand Turn

Details...

Beta strand

2 – 7

6

Beta strand

15 – 17

3

Helix

21 – 23

3

Beta strand

28 – 32

5

Helix

37 – 40

4

Beta strand

47 – 52

6

Helix

62 – 69

8

Beta strand

76 – 82

7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 6, 2005. Version 2. Checksum: 67B5B699D2B2AB68	FASTA	727	77,135
	10 20 30 40 50 60 MSYSVTLTGP GPWGFRLQGG KDFNMPLTIS RITPGSKAAQ SQLSQGDLVV AIDGVNTDTM 70 80 90 100 110 120 THLEAQNKIK SASYNLSLTL QKSKRPIPIS TTAPPVQTPL PVIPHQKDPA LDTNGSLVAP 130 140 150 160 170 180 SPSPEARASP GTPGTPELRP TFSPAFSRPS AFSSLAEASD PGPPRASLRA KTSPEGARDL 190 200 210 220 230 240 LGPKALPGSS QPRQYNNPIG LYSAETLREM AQMYQMSLRG KASGVGLPGG SLPIKDLAVD 250 260 270 280 290 300 SASPVYQAVI KSQNKPEDEA DEWARRSSNL QSRSFRILAQ MTGTEFMQDP DEEALRRSST 310 320 330 340 350 360 PIEHAPVCTS QATTPLLPAS AQPPAAASPS AASPPLATAA AHTAIASAST TAPASSPADS 370 380 390 400 410 420 PRPQASSYSP AVAASSAPAT HTSYSEGPAA PAPKPRVVTT ASIRPSVYQP VPASTYSPSP 430 440 450 460 470 480 GANYSPTPYT PSPAPAYTPS PAPAYTPSPV PTYTPSPAPA YTPSPAPNYN PAPSVAYSGG 490 500 510 520 530 540 PAEPASRPPW VTDDSFSQKF APGKSTTSIS KQTLPRGGPA YTPAGPQVPP LARGTVQRAE 550 560 570 580 590 600 RFPASSRTPL CGHCNNVIRG PFLVAMGRSW HPEEFTCAYC KTSLADVCFV EEQNNVYCER 610 620 630 640 650 660 CYEQFFAPLC AKCNTKIMGE VMHALRQTWH TTCFVCAACK KPFGNSLFHM EDGEPYCEKD 670 680 690 700 710 720 YINLFSTKCH GCDFPVEAGD KFIEALGHTW HDTCFICAVC HVNLEGQPFY SKKDRPLCKK HAHTINL
	Isoform 2 [UniParc]. Checksum: F3F1EA54284E4271	FASTA	617	66,671
	10 20 30 40 50 60 MSYSVTLTGP GPWGFRLQGG KDFNMPLTIS RITPGSKAAQ SQLSQGDLVV AIDGVNTDTM 70 80 90 100 110 120 THLEAQNKIK SASYNLSLTL QKSKRPIPIS TTAPPVQTPL PVIPHQKVVV NSPANADYQE 130 140 150 160 170 180 RFNPSALKDS ALSTHKPIEV KGLGGKATII HAQYNTPISM YSQDAIMDAI AGQAQAQGSD 190 200 210 220 230 240 FSGSLPIKDL AVDSASPVYQ AVIKSQNKPE DEADEWARRS SNLQSRSFRI LAQMTGTEFM 250 260 270 280 290 300 QDPDEEALRR SRPQASSYSP AVAASSAPAT HTSYSEGPAA PAPKPRVVTT ASIRPSVYQP 310 320 330 340 350 360 VPASTYSPSP GANYSPTPYT PSPAPAYTPS PAPAYTPSPV PTYTPSPAPA YTPSPAPNYN 370 380 390 400 410 420 PAPSVAYSGG PAEPASRPPW VTDDSFSQKF APGKSTTSIS KQTLPRGGPA YTPAGPQVPP 430 440 450 460 470 480 LARGTVQRAE RFPASSRTPL CGHCNNVIRG PFLVAMGRSW HPEEFTCAYC KTSLADVCFV 490 500 510 520 530 540 EEQNNVYCER CYEQFFAPLC AKCNTKIMGE VMHALRQTWH TTCFVCAACK KPFGNSLFHM 550 560 570 580 590 600 EDGEPYCEKD YINLFSTKCH GCDFPVEAGD KFIEALGHTW HDTCFICAVC HVNLEGQPFY 610 SKKDRPLCKK HAHTINL
	Isoform 3 [UniParc]. Checksum: EEDF0FA566FF03D5	FASTA	470	50,620
	10 20 30 40 50 60 MSYSVTLTGP GPWGFRLQGG KDFNMPLTIS RITPGSKAAQ SQLSQGDLVV AIDGVNTDTM 70 80 90 100 110 120 THLEAQNKIK SASYNLSLTL QKSKRPIPIS TTAPPVQTPL PVIPHQKASS YSPAVAASSA 130 140 150 160 170 180 PATHTSYSEG PAAPAPKPRV VTTASIRPSV YQPVPASTYS PSPGANYSPT PYTPSPAPAY 190 200 210 220 230 240 TPSPAPAYTP SPVPTYTPSP APAYTPSPAP NYNPAPSVAY SGGPAEPASR PPWVTDDSFS 250 260 270 280 290 300 QKFAPGKSTT SISKQTLPRG GPAYTPAGPQ VPPLARGTVQ RAERFPASSR TPLCGHCNNV 310 320 330 340 350 360 IRGPFLVAMG RSWHPEEFTC AYCKTSLADV CFVEEQNNVY CERCYEQFFA PLCAKCNTKI 370 380 390 400 410 420 MGEVMHALRQ TWHTTCFVCA ACKKPFGNSL FHMEDGEPYC EKDYINLFST KCHGCDFPVE 430 440 450 460 470 AGDKFIEALG HTWHDTCFIC AVCHVNLEGQ PFYSKKDRPL CKKHAHTINL
	Isoform 4 [UniParc]. Checksum: 9046ADEF699169BE	FASTA	398	42,832
	10 20 30 40 50 60 MSYSVTLTGP GPWGFRLQGG KDFNMPLTIS RITPGSKAAQ SQLSQGDLVV AIDGVNTDTM 70 80 90 100 110 120 THLEAQNKIK SASYNLSLTL QKSKRPIPIS TTAPPVQTPL PVIPHQKDPA LDTNGSLVAP 130 140 150 160 170 180 SPSPEARASP GTPGTPELRP TFSPAFSRPS AFSSLAEASD PGPPRASLRA KTSPEGARDL 190 200 210 220 230 240 LGPKALPGSS QPRQYNNPIG LYSAETLREM AQMYQMSLRG KASGVGLPGG ADYQERFNPS 250 260 270 280 290 300 ALKDSALSTH KPIEVKGLGG KATIIHAQYN TPISMYSQDA IMDAIAGQAQ AQGSDFSGSL 310 320 330 340 350 360 PIKDLAVDSA SPVYQAVIKS QNKPEDEADE WARRSSNLQS RSFRILAQMT GTEFMQDPDE 370 380 390 EALRRSRERF ETERNSPRFA KLRNWHHGLS AQILNVKS
	Isoform 5 [UniParc]. Checksum: F6B8A00A6EF9B7E0	FASTA	330	35,637
	10 20 30 40 50 60 MSYSVTLTGP GPWGFRLQGG KDFNMPLTIS RITPGSKAAQ SQLSQGDLVV AIDGVNTDTM 70 80 90 100 110 120 THLEAQNKIK SASYNLSLTL QKSKRPIPIS TTAPPVQTPL PVIPHQKDPA LDTNGSLVAP 130 140 150 160 170 180 SPSPEARASP GTPGTPELRP TFSPAFSRPS AFSSLAEASD PGPPRASLRA KTSPEGARDL 190 200 210 220 230 240 LGPKALPGSS QPRQYNNPIG LYSAETLREM AQMYQMSLRG KASGVGLPGG SLPIKDLAVD 250 260 270 280 290 300 SASPVYQAVI KSQNKPEDEA DEWARRSSNL QSRSFRILAQ MTGTEFMQDP DEEALRRSRE 310 320 330 RFETERNSPR FAKLRNWHHG LSAQILNVKS
	Isoform 6 [UniParc]. Checksum: 099A4472DB4D9258	FASTA	283	30,999
	10 20 30 40 50 60 MSYSVTLTGP GPWGFRLQGG KDFNMPLTIS RITPGSKAAQ SQLSQGDLVV AIDGVNTDTM 70 80 90 100 110 120 THLEAQNKIK SASYNLSLTL QKSKRPIPIS TTAPPVQTPL PVIPHQKVVV NSPANADYQE 130 140 150 160 170 180 RFNPSALKDS ALSTHKPIEV KGLGGKATII HAQYNTPISM YSQDAIMDAI AGQAQAQGSD 190 200 210 220 230 240 FSGSLPIKDL AVDSASPVYQ AVIKSQNKPE DEADEWARRS SNLQSRSFRI LAQMTGTEFM 250 260 270 280 QDPDEEALRR SRERFETERN SPRFAKLRNW HHGLSAQILN VKS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"ZASP: a new Z-band alternatively spliced PDZ-motif protein." Faulkner G., Pallavicini A., Formentin E., Comelli A., Ievolella C., Trevisan S., Bortoletto G., Scannapieco P., Salamon M., Mouly V., Valle G., Lanfranchi G. J. Cell Biol. 146:465-475(1999) [PubMed: 10427098] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 6), INTERACTION WITH ACTN2, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[2]	"ZASP: a new Z-band alternatively spliced PDZ-motif protein identified from a melanoma tumor line." Zeng G., Rosenberg S.A., Wang R.-F. Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5 AND 6). Tissue: Melanoma, Skeletal muscle and Uterus.
[3]	"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed: 9734811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[4]	NHLBI resequencing and genotyping service (RS&G) Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6). Tissue: Skeletal muscle.
[7]	"Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins." Frey N., Olson E.N. J. Biol. Chem. 277:13998-14004(2002) [PubMed: 11842093] [Abstract] Cited for: INTERACTION WITH MYOZ1; MYOZ2 AND MYOZ3.
[8]	"Solution structure of ZASP PDZ domain; implications for sarcomere ultrastructure and enigma family redundancy." Au Y., Atkinson R.A., Guerrini R., Kelly G., Joseph C., Martin S.R., Muskett F.W., Pallavicini A., Faulkner G., Pastore A. Structure 12:611-622(2004) [PubMed: 15062084] [Abstract] Cited for: STRUCTURE BY NMR OF 3-85.
[9]	"Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction." Vatta M., Mohapatra B., Jimenez S., Sanchez X., Faulkner G., Perles Z., Sinagra G., Lin J.-H., Vu T.M., Zhou Q., Bowles K.R., Di Lenarda A., Schimmenti L., Fox M., Chrisco M.A., Murphy R.T., McKenna W., Elliott P. , Bowles N.E., Chen J., Valle G., Towbin J.A. J. Am. Coll. Cardiol. 42:2014-2027(2003) [PubMed: 14662268] [Abstract] Cited for: VARIANTS DILATED CARDIOMYOPATHY WITH LEFT VENTRICULAR NON-COMPACTION, VARIANTS CMD1C LEU-189; ILE-206 AND MET-345.
[10]	"A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C." Arimura T., Hayashi T., Terada H., Lee S.-Y., Zhou Q., Takahashi M., Ueda K., Nouchi T., Hohda S., Shibutani M., Hirose M., Chen J., Park J.-E., Yasunami M., Hayashi H., Kimura A. J. Biol. Chem. 279:6746-6752(2004) [PubMed: 14660611] [Abstract] Cited for: VARIANT CMD1C ASN-673, VARIANTS ILE-55 AND ILE-635.
[11]	"Mutations in ZASP define a novel form of muscular dystrophy in humans." Selcen D., Engel A.G. Ann. Neurol. 57:269-276(2005) [PubMed: 15668942] [Abstract] Cited for: VARIANTS MYOPATHY.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AJ133766 mRNA. Translation: CAB46727.1. Frameshift.
AJ133767 mRNA. Translation: CAB46728.1.
AJ133768 mRNA. Translation: CAB46729.1.
AF276807 mRNA. Translation: AAQ14316.1.
AF276808 mRNA. Translation: AAQ14317.1. Frameshift.
AF276809 mRNA. Translation: AAQ14318.1.
AB014513 mRNA. Translation: BAA31588.1. Different initiation.
EF179181 Genomic DNA. Translation: ABN05284.1.
AC067750 Genomic DNA. No translation available.
BC010929 mRNA. Translation: AAH10929.1.

IPI

IPI00165263.
IPI00294958.
IPI00294959.
IPI00514458.
IPI00552865.
IPI00654766.

RefSeq

NP_001073583.1. NM_001080114.1.
NP_001073584.1. NM_001080115.1.
NP_001073585.1. NM_001080116.1.
NP_001165082.1. NM_001171611.1.
NP_009009.1. NM_007078.2.

UniGene

Hs.657271.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1RGW	NMR	-	A	3-85	[»]

ProteinModelPortal

O75112.

SMR

O75112. Positions 5-83, 536-724.

ModBase

Search...

Protein-protein interaction databases

IntAct

O75112. 1 interaction.

STRING

O75112.

PTM databases

PhosphoSite

O75112.

2D gel databases

UCD-2DPAGE

O75112.
Q9Y4Z5.

Proteomic databases

PRIDE

O75112.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000361373; ENSP00000355296; ENSG00000122367.

GeneID

11155.

KEGG

hsa:11155.

UCSC

uc001kdr.1. human.
uc001kds.1. human.
uc001kdu.1. human.
uc001kdv.1. human.
uc009xsy.1. human.

Organism-specific databases

CTD

11155.

GeneCards

GC10P088418.

H-InvDB

HIX0008997.

HGNC

HGNC:15710. LDB3.

MIM

601493. phenotype.
605906. gene+phenotype.
609452. phenotype.

neXtProt

NX_O75112.

Orphanet

247. Arrhythmogenic right ventricular dysplasia.
154. Familial isolated dilated cardiomyopathy.
54260. Left ventricular noncompaction.
609. Tibial muscular dystrophy.
98912. ZASP-related myofibrillar myopathy.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG14626.

GeneTree

ENSGT00600000084390.

HOVERGEN

HBG051478.

InParanoid

O75112.

OrthoDB

EOG4GTKDQ.

Gene expression databases

ArrayExpress

O75112.

Bgee

O75112.

Genevestigator

O75112.

GermOnline

ENSG00000122367. Homo sapiens.

Family and domain databases

InterPro

IPR001478. PDZ/DHR/GLGF.
IPR006643. ZASP.
IPR001781. Znf_LIM.
[Graphical view]

Gene3D

G3DSA:2.10.110.10. Znf_LIM. 3 hits.

Pfam

PF00412. LIM. 3 hits.
PF00595. PDZ. 1 hit.
[Graphical view]

SMART

SM00132. LIM. 3 hits.
SM00228. PDZ. 1 hit.
SM00735. ZM. 1 hit.
[Graphical view]

SUPFAM

SSF50156. PDZ. 1 hit.

PROSITE

PS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 3 hits.
PS50106. PDZ. 1 hit.
[Graphical view]

ProtoNet

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Other

NextBio

42413.

SOURCE

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Entry information

Entry name

LDB3_HUMAN

Accession

Primary (citable) accession number: O75112
Secondary accession number(s): A2TDB7 , A6NIV4, Q5K6N9, Q5K6P0, Q5K6P1, Q96FH2, Q9Y4Z3, Q9Y4Z4, Q9Y4Z5

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 6, 2005
Last sequence update:	December 6, 2005
Last modified:	January 25, 2012
This is version 107 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.