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O75112

- LDB3_HUMAN

UniProt

O75112 - LDB3_HUMAN

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Protein

LIM domain-binding protein 3

Gene

LDB3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.Curated

GO - Molecular functioni

  1. cytoskeletal protein binding Source: UniProtKB
  2. zinc ion binding Source: InterPro

GO - Biological processi

  1. sarcomere organization Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
LIM domain-binding protein 3
Alternative name(s):
Protein cypher
Z-band alternatively spliced PDZ-motif protein
Gene namesi
Name:LDB3Imported
Synonyms:KIAA0613Imported, ZASPImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:15710. LDB3.

Subcellular locationi

Cytoplasmperinuclear region 1 Publication. Cell projectionpseudopodium 1 Publication. Cytoplasmcytoskeleton 1 Publication. CytoplasmmyofibrilsarcomereZ line 1 Publication
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.

GO - Cellular componenti

  1. cell projection Source: UniProtKB-KW
  2. cytoskeleton Source: UniProtKB
  3. Z disc Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 1C (CMD1C) [MIM:601493]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti189 – 1891S → L in CMD1C. 1 Publication
Corresponds to variant rs45487699 [ dbSNP | Ensembl ].
VAR_024009
Natural varianti206 – 2061T → I in CMD1C. 1 Publication
VAR_024010
Natural varianti345 – 3451I → M in CMD1C. 1 Publication
VAR_024011
Natural varianti673 – 6731D → N in CMD1C. 1 Publication
Corresponds to variant rs45514002 [ dbSNP | Ensembl ].
VAR_024013
Left ventricular non-compaction 3 (LVNC3) [MIM:601493]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Myopathy, myofibrillar, 4 (MFM4) [MIM:609452]: A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 21 Publication (identifier: O75112-2)
Natural varianti147 – 1471A → T in MFM4.
Natural varianti165 – 1651A → V in MFM4.
Isoform 61 Publication (identifier: O75112-6)
Natural varianti147 – 1471A → T in MFM4. 1 PublicationCurated
Natural varianti165 – 1651A → V in MFM4. 1 PublicationCurated
Natural varianti268 – 2681R → C in MFM4. 1 PublicationCurated
Isoform 41 Publication (identifier: O75112-4)
Natural varianti262 – 2621A → T in MFM4.
Natural varianti280 – 2801A → V in MFM4.
Natural varianti383 – 3831R → C in MFM4.

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Myofibrillar myopathy

Organism-specific databases

MIMi601493. phenotype.
605906. gene+phenotype.
609452. phenotype.
Orphaneti154. Familial isolated dilated cardiomyopathy.
98912. Late-onset distal myopathy, Markesbery-Griggs type.
54260. Left ventricular noncompaction.
PharmGKBiPA30318.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 727727LIM domain-binding protein 3PRO_0000075767Add
BLAST

Proteomic databases

MaxQBiO75112.
PaxDbiO75112.
PRIDEiO75112.

2D gel databases

UCD-2DPAGEO75112.
Q9Y4Z5.

PTM databases

PhosphoSiteiO75112.

Expressioni

Tissue specificityi

Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta.1 Publication

Gene expression databases

BgeeiO75112.
ExpressionAtlasiO75112. baseline and differential.
GenevestigatoriO75112.

Organism-specific databases

HPAiHPA048955.

Interactioni

Subunit structurei

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.By similarity2 Publications

Protein-protein interaction databases

BioGridi116326. 5 interactions.
IntActiO75112. 1 interaction.

Structurei

Secondary structure

1
727
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi2 – 76Combined sources
Beta strandi15 – 173Combined sources
Helixi21 – 233Combined sources
Beta strandi28 – 325Combined sources
Helixi37 – 404Combined sources
Beta strandi47 – 526Combined sources
Helixi62 – 698Combined sources
Beta strandi76 – 827Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1RGWNMR-A1-85[»]
ProteinModelPortaliO75112.
SMRiO75112. Positions 5-83, 536-695.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75112.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 8484PDZPROSITE-ProRule annotationAdd
BLAST
Domaini549 – 60759LIM zinc-binding 1PROSITE-ProRule annotationAdd
BLAST
Domaini608 – 66760LIM zinc-binding 2PROSITE-ProRule annotationAdd
BLAST
Domaini668 – 72760LIM zinc-binding 3PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 3 LIM zinc-binding domains.PROSITE-ProRule annotation
Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation

Keywords - Domaini

LIM domain, Repeat

Phylogenomic databases

eggNOGiNOG286537.
GeneTreeiENSGT00760000118910.
HOGENOMiHOG000220936.
HOVERGENiHBG051478.
InParanoidiO75112.
OMAiREMAAMQ.
OrthoDBiEOG7HXCQB.
PhylomeDBiO75112.
TreeFamiTF106408.

Family and domain databases

Gene3Di2.10.110.10. 3 hits.
2.30.42.10. 1 hit.
InterProiIPR001478. PDZ.
IPR006643. ZASP.
IPR001781. Znf_LIM.
[Graphical view]
PfamiPF00412. LIM. 3 hits.
PF00595. PDZ. 1 hit.
[Graphical view]
SMARTiSM00132. LIM. 3 hits.
SM00228. PDZ. 1 hit.
SM00735. ZM. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
PROSITEiPS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 3 hits.
PS50106. PDZ. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. Align

Isoform 1Curated (identifier: O75112-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSYSVTLTGP GPWGFRLQGG KDFNMPLTIS RITPGSKAAQ SQLSQGDLVV
60 70 80 90 100
AIDGVNTDTM THLEAQNKIK SASYNLSLTL QKSKRPIPIS TTAPPVQTPL
110 120 130 140 150
PVIPHQKDPA LDTNGSLVAP SPSPEARASP GTPGTPELRP TFSPAFSRPS
160 170 180 190 200
AFSSLAEASD PGPPRASLRA KTSPEGARDL LGPKALPGSS QPRQYNNPIG
210 220 230 240 250
LYSAETLREM AQMYQMSLRG KASGVGLPGG SLPIKDLAVD SASPVYQAVI
260 270 280 290 300
KSQNKPEDEA DEWARRSSNL QSRSFRILAQ MTGTEFMQDP DEEALRRSST
310 320 330 340 350
PIEHAPVCTS QATTPLLPAS AQPPAAASPS AASPPLATAA AHTAIASAST
360 370 380 390 400
TAPASSPADS PRPQASSYSP AVAASSAPAT HTSYSEGPAA PAPKPRVVTT
410 420 430 440 450
ASIRPSVYQP VPASTYSPSP GANYSPTPYT PSPAPAYTPS PAPAYTPSPV
460 470 480 490 500
PTYTPSPAPA YTPSPAPNYN PAPSVAYSGG PAEPASRPPW VTDDSFSQKF
510 520 530 540 550
APGKSTTSIS KQTLPRGGPA YTPAGPQVPP LARGTVQRAE RFPASSRTPL
560 570 580 590 600
CGHCNNVIRG PFLVAMGRSW HPEEFTCAYC KTSLADVCFV EEQNNVYCER
610 620 630 640 650
CYEQFFAPLC AKCNTKIMGE VMHALRQTWH TTCFVCAACK KPFGNSLFHM
660 670 680 690 700
EDGEPYCEKD YINLFSTKCH GCDFPVEAGD KFIEALGHTW HDTCFICAVC
710 720
HVNLEGQPFY SKKDRPLCKK HAHTINL

Note: No experimental confirmation available.Curated

Length:727
Mass (Da):77,135
Last modified:December 6, 2005 - v2
Checksum:i67B5B699D2B2AB68
GO
Isoform 21 Publication (identifier: O75112-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-229: DPALDTNGSL...GKASGVGLPG → VVVNSPANAD...QAQAQGSDFS
     299-361: Missing.

Show »
Length:617
Mass (Da):66,671
Checksum:iF3F1EA54284E4271
GO
Isoform 31 Publication (identifier: O75112-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-364: Missing.

Show »
Length:470
Mass (Da):50,620
Checksum:iEEDF0FA566FF03D5
GO
Isoform 41 Publication (identifier: O75112-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     230-230: G → GADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSG
     299-329: STPIEHAPVCTSQATTPLLPASAQPPAAASP → RERFETERNSPRFAKLRNWHHGLSAQILNVK
     331-727: Missing.

Show »
Length:398
Mass (Da):42,832
Checksum:i9046ADEF699169BE
GO
Isoform 51 Publication (identifier: O75112-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     299-329: STPIEHAPVCTSQATTPLLPASAQPPAAASP → RERFETERNSPRFAKLRNWHHGLSAQILNVK
     331-727: Missing.

Show »
Length:330
Mass (Da):35,637
Checksum:iF6B8A00A6EF9B7E0
GO
Isoform 61 Publication (identifier: O75112-6) [UniParc]FASTAAdd to Basket

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.

Show »
Length:283
Mass (Da):30,999
Checksum:i099A4472DB4D9258
GO
Isoform 7 (identifier: O75112-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     230-230: G → GADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSG
     299-361: Missing.

Note: No experimental confirmation available.

Show »
Length:732
Mass (Da):78,504
Checksum:i2820E6271E03DD4C
GO

Sequence cautioni

Isoform 6 : The sequence AAQ14317.1 differs from that shown. Reason: Frameshift at positions 231 and 258. 1 PublicationCurated
The sequence BAA31588.1 differs from that shown. Reason: Erroneous initiation. Curated
Isoform 6 : The sequence CAB46727.1 differs from that shown. Reason: Frameshift at positions 250 and 258. 1 PublicationCurated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti365 – 3684ASSY → VVVN in CAB46729. (PubMed:10427098)Curated
Sequence conflicti372 – 3721V → N in CAB46729. (PubMed:10427098)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551V → I.1 Publication
Corresponds to variant rs3740343 [ dbSNP | Ensembl ].
VAR_024008
Natural varianti101 – 1011P → L.
Corresponds to variant rs45592139 [ dbSNP | Ensembl ].
VAR_050146
Natural varianti189 – 1891S → L in CMD1C. 1 Publication
Corresponds to variant rs45487699 [ dbSNP | Ensembl ].
VAR_024009
Natural varianti206 – 2061T → I in CMD1C. 1 Publication
VAR_024010
Natural varianti345 – 3451I → M in CMD1C. 1 Publication
VAR_024011
Natural varianti635 – 6351V → I.1 Publication
Corresponds to variant rs45618633 [ dbSNP | Ensembl ].
VAR_024012
Natural varianti673 – 6731D → N in CMD1C. 1 Publication
Corresponds to variant rs45514002 [ dbSNP | Ensembl ].
VAR_024013
Isoform 21 Publication (identifier: O75112-2)
Natural varianti117 – 1171D → N in dilated cardiomyopathy with left ventricular non-compaction.
Natural varianti136 – 1361K → M in dilated cardiomyopathy with left ventricular non-compaction.
Natural varianti147 – 1471A → T in MFM4.
Natural varianti165 – 1651A → V in MFM4.
Isoform 61 Publication (identifier: O75112-6)
Natural varianti147 – 1471A → T in MFM4. 1 PublicationCurated
Natural varianti165 – 1651A → V in MFM4. 1 PublicationCurated
Natural varianti268 – 2681R → C in MFM4. 1 PublicationCurated
Isoform 41 Publication (identifier: O75112-4)
Natural varianti232 – 2321D → N in dilated cardiomyopathy with left ventricular non-compaction.
Natural varianti251 – 2511K → M in dilated cardiomyopathy with left ventricular non-compaction.
Natural varianti262 – 2621A → T in MFM4.
Natural varianti280 – 2801A → V in MFM4.
Natural varianti383 – 3831R → C in MFM4.
Isoform 51 Publication (identifier: O75112-5)
Natural varianti315 – 3151R → C in MFM-ZASP.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei108 – 364257Missing in isoform 3. 1 PublicationVSP_051897Add
BLAST
Alternative sequencei108 – 229122DPALD…VGLPG → VVVNSPANADYQERFNPSAL KDSALSTHKPIEVKGLGGKA TIIHAQYNTPISMYSQDAIM DAIAGQAQAQGSDFS in isoform 2 and isoform 6. 3 PublicationsVSP_051898Add
BLAST
Alternative sequencei230 – 2301G → GADYQERFNPSALKDSALST HKPIEVKGLGGKATIIHAQY NTPISMYSQDAIMDAIAGQA QAQGSDFSG in isoform 4 and isoform 7. 2 PublicationsVSP_051899
Alternative sequencei299 – 36163Missing in isoform 2 and isoform 7. 2 PublicationsVSP_051900Add
BLAST
Alternative sequencei299 – 32931STPIE…AAASP → RERFETERNSPRFAKLRNWH HGLSAQILNVK in isoform 4, isoform 5 and isoform 6. 3 PublicationsVSP_051901Add
BLAST
Alternative sequencei331 – 727397Missing in isoform 4, isoform 5 and isoform 6. 3 PublicationsVSP_051902Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
AK304760 mRNA. Translation: BAG65515.1.
EF179181 Genomic DNA. Translation: ABN05284.1.
AC067750 Genomic DNA. No translation available.
BC010929 mRNA. Translation: AAH10929.1.
CCDSiCCDS41544.1. [O75112-2]
CCDS41545.1. [O75112-6]
CCDS53549.1. [O75112-4]
CCDS53550.1. [O75112-7]
CCDS7377.1. [O75112-1]
RefSeqiNP_001073583.1. NM_001080114.1. [O75112-2]
NP_001073584.1. NM_001080115.1. [O75112-5]
NP_001073585.1. NM_001080116.1. [O75112-6]
NP_001165081.1. NM_001171610.1. [O75112-7]
NP_001165082.1. NM_001171611.1. [O75112-4]
NP_009009.1. NM_007078.2. [O75112-1]
XP_005269521.1. XM_005269464.2. [O75112-1]
XP_005269525.1. XM_005269468.2. [O75112-5]
XP_006717661.1. XM_006717598.1. [O75112-1]
UniGeneiHs.657271.

Genome annotation databases

EnsembliENST00000263066; ENSP00000263066; ENSG00000122367. [O75112-2]
ENST00000361373; ENSP00000355296; ENSG00000122367. [O75112-1]
ENST00000372056; ENSP00000361126; ENSG00000122367. [O75112-4]
ENST00000372066; ENSP00000361136; ENSG00000122367. [O75112-6]
ENST00000429277; ENSP00000401437; ENSG00000122367. [O75112-7]
ENST00000542786; ENSP00000438866; ENSG00000122367.
ENST00000623007; ENSP00000485389; ENSG00000122367. [O75112-5]
ENST00000623056; ENSP00000485500; ENSG00000122367. [O75112-7]
GeneIDi11155.
KEGGihsa:11155.
UCSCiuc001kdr.3. human. [O75112-6]
uc001kds.3. human. [O75112-5]
uc001kdu.3. human. [O75112-2]
uc001kdv.3. human. [O75112-1]
uc009xsy.3. human. [O75112-4]
uc009xsz.3. human. [O75112-3]
uc010qmm.2. human. [O75112-7]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
AK304760 mRNA. Translation: BAG65515.1 .
EF179181 Genomic DNA. Translation: ABN05284.1 .
AC067750 Genomic DNA. No translation available.
BC010929 mRNA. Translation: AAH10929.1 .
CCDSi CCDS41544.1. [O75112-2 ]
CCDS41545.1. [O75112-6 ]
CCDS53549.1. [O75112-4 ]
CCDS53550.1. [O75112-7 ]
CCDS7377.1. [O75112-1 ]
RefSeqi NP_001073583.1. NM_001080114.1. [O75112-2 ]
NP_001073584.1. NM_001080115.1. [O75112-5 ]
NP_001073585.1. NM_001080116.1. [O75112-6 ]
NP_001165081.1. NM_001171610.1. [O75112-7 ]
NP_001165082.1. NM_001171611.1. [O75112-4 ]
NP_009009.1. NM_007078.2. [O75112-1 ]
XP_005269521.1. XM_005269464.2. [O75112-1 ]
XP_005269525.1. XM_005269468.2. [O75112-5 ]
XP_006717661.1. XM_006717598.1. [O75112-1 ]
UniGenei Hs.657271.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1RGW NMR - A 1-85 [» ]
ProteinModelPortali O75112.
SMRi O75112. Positions 5-83, 536-695.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116326. 5 interactions.
IntActi O75112. 1 interaction.

PTM databases

PhosphoSitei O75112.

2D gel databases

UCD-2DPAGE O75112.
Q9Y4Z5.

Proteomic databases

MaxQBi O75112.
PaxDbi O75112.
PRIDEi O75112.

Protocols and materials databases

DNASUi 11155.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263066 ; ENSP00000263066 ; ENSG00000122367 . [O75112-2 ]
ENST00000361373 ; ENSP00000355296 ; ENSG00000122367 . [O75112-1 ]
ENST00000372056 ; ENSP00000361126 ; ENSG00000122367 . [O75112-4 ]
ENST00000372066 ; ENSP00000361136 ; ENSG00000122367 . [O75112-6 ]
ENST00000429277 ; ENSP00000401437 ; ENSG00000122367 . [O75112-7 ]
ENST00000542786 ; ENSP00000438866 ; ENSG00000122367 .
ENST00000623007 ; ENSP00000485389 ; ENSG00000122367 . [O75112-5 ]
ENST00000623056 ; ENSP00000485500 ; ENSG00000122367 . [O75112-7 ]
GeneIDi 11155.
KEGGi hsa:11155.
UCSCi uc001kdr.3. human. [O75112-6 ]
uc001kds.3. human. [O75112-5 ]
uc001kdu.3. human. [O75112-2 ]
uc001kdv.3. human. [O75112-1 ]
uc009xsy.3. human. [O75112-4 ]
uc009xsz.3. human. [O75112-3 ]
uc010qmm.2. human. [O75112-7 ]

Organism-specific databases

CTDi 11155.
GeneCardsi GC10P088426.
GeneReviewsi LDB3.
HGNCi HGNC:15710. LDB3.
HPAi HPA048955.
MIMi 601493. phenotype.
605906. gene+phenotype.
609452. phenotype.
neXtProti NX_O75112.
Orphaneti 154. Familial isolated dilated cardiomyopathy.
98912. Late-onset distal myopathy, Markesbery-Griggs type.
54260. Left ventricular noncompaction.
PharmGKBi PA30318.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG286537.
GeneTreei ENSGT00760000118910.
HOGENOMi HOG000220936.
HOVERGENi HBG051478.
InParanoidi O75112.
OMAi REMAAMQ.
OrthoDBi EOG7HXCQB.
PhylomeDBi O75112.
TreeFami TF106408.

Miscellaneous databases

ChiTaRSi LDB3. human.
EvolutionaryTracei O75112.
GeneWikii LDB3.
GenomeRNAii 11155.
NextBioi 42413.
PROi O75112.
SOURCEi Search...

Gene expression databases

Bgeei O75112.
ExpressionAtlasi O75112. baseline and differential.
Genevestigatori O75112.

Family and domain databases

Gene3Di 2.10.110.10. 3 hits.
2.30.42.10. 1 hit.
InterProi IPR001478. PDZ.
IPR006643. ZASP.
IPR001781. Znf_LIM.
[Graphical view ]
Pfami PF00412. LIM. 3 hits.
PF00595. PDZ. 1 hit.
[Graphical view ]
SMARTi SM00132. LIM. 3 hits.
SM00228. PDZ. 1 hit.
SM00735. ZM. 1 hit.
[Graphical view ]
SUPFAMi SSF50156. SSF50156. 1 hit.
PROSITEi PS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 3 hits.
PS50106. PDZ. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: BrainImported.
  4. "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] (ISOFORM 7).
    Tissue: Uterus.
  5. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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 6).
    Tissue: Skeletal muscleImported.
  8. "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] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MYOZ1; MYOZ2 AND MYOZ3.
  9. "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] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 3-85.
  10. Cited for: VARIANTS DILATED CARDIOMYOPATHY WITH LEFT VENTRICULAR NON-COMPACTION, VARIANTS CMD1C LEU-189; ILE-206 AND MET-345.
  11. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CMD1C ASN-673, VARIANTS ILE-55 AND ILE-635.
  12. "Mutations in ZASP define a novel form of muscular dystrophy in humans."
    Selcen D., Engel A.G.
    Ann. Neurol. 57:269-276(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MYOPATHY.

Entry informationi

Entry nameiLDB3_HUMAN
AccessioniPrimary (citable) accession number: O75112
Secondary accession number(s): A2TDB7
, A6NIV4, B4E3K3, Q5K6N9, Q5K6P0, Q5K6P1, Q96FH2, Q9Y4Z3, Q9Y4Z4, Q9Y4Z5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: November 26, 2014
This is version 136 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 10
    Human chromosome 10: 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