LDB3
entrez
11155
canonical
uniprot
O75112
canonical
ensembl
ENSG00000122367
resolver
ensp
ENSP00000263066
resolver
ensp
ENSP00000355296
resolver
ensp
ENSP00000361126
resolver
ensp
ENSP00000361136
resolver
ensp
ENSP00000401437
resolver
ensp
ENSP00000485389
resolver
ensp
ENSP00000508987
resolver
ensp
ENSP00000509539
resolver
ensp
ENSP00000510300
resolver
ensp
ENSP00000510609
resolver
ensp
ENSP00000541499
resolver
ensp
ENSP00000541504
resolver
ensp
ENSP00000541505
resolver
ensp
ENSP00000541507
resolver
ensp
ENSP00000541519
resolver
ensp
ENSP00000615729
resolver
ensp
ENSP00000615730
resolver
ensp
ENSP00000644892
resolver
enst
ENST00000688001
resolver
enst
ENST00000689296
resolver
enst
ENST00000689740
resolver
enst
ENST00000693680
resolver
enst
ENST00000871440
resolver
enst
ENST00000871445
resolver
enst
ENST00000871446
resolver
enst
ENST00000871448
resolver
enst
ENST00000945670
resolver
enst
ENST00000945671
resolver
genesymbol
LDB3
resolver
genesymbol_syn
KIAA0613
resolver
genesymbol_syn
ZASP
resolver
hgnc
HGNC:15710
resolver
uniprot
A0A0S2Z501
resolver
uniprot
A0A0S2Z530
resolver
uniprot
A0A8I5KTQ7
resolver
uniprot
A0A8I5KV04
resolver
uniprot
A2TDB7
resolver
uniprot
A6NIV4
resolver
uniprot
B4E3K3
resolver
uniprot
Q5K6N9
resolver
uniprot
Q5K6P0
resolver
uniprot
Q5K6P1
resolver
uniprot
Q96FH2
resolver
uniprot
Q9Y4Z3
resolver
uniprot
Q9Y4Z4
resolver
uniprot
Q9Y4Z5
resolver
uniprot
V5T7C5
resolver
uniprot_entry
A0A0S2Z501_HUMAN
resolver
uniprot_entry
A0A0S2Z530_HUMAN
resolver
uniprot_entry
A0A8I5KTQ7_HUMAN
resolver
uniprot_entry
A0A8I5KV04_HUMAN
resolver
uniprot_entry
LDB3_HUMAN
resolver
uniprot_entry
V5T7C5_HUMAN
resolver
uniprot_sec
A2TDB7
resolver
uniprot_sec
A6NIV4
resolver
uniprot_sec
B4E3K3
resolver
uniprot_sec
Q5K6N9
resolver
uniprot_sec
Q5K6P0
resolver
uniprot_sec
Q5K6P1
resolver
uniprot_sec
Q96FH2
resolver
uniprot_sec
Q9Y4Z3
resolver
uniprot_sec
Q9Y4Z4
resolver
uniprot_sec
Q9Y4Z5
resolver
amino_acid_sequence
MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSSTPIEHAPVCTSQATTPLLPASAQPPAAASPSAASPPLATAAAHTAIASASTTAPASSPADSPRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction (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. {ECO:0000269|PubMed:14660611, ECO:0000269|PubMed:14662268}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Left ventricular non-compaction 3 (LVNC3) [MIM:601493]: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC3 is an autosomal dominant condition. {ECO:0000269|PubMed:16427346}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopathy, myofibrillar, 4 (MFM4) [MIM:609452]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM4 is characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. {ECO:0000269|PubMed:15668942, ECO:0000269|PubMed:25208129}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, familial hypertrophic, 24 (CMH24) [MIM:601493]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:17097056, ECO:0000269|PubMed:25616123}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 2L (CMD2L) [MIM:621237]: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2L is an autosomal recessive, severe form characterized by neonatal or infantile onset. Some patients show additional skeletal muscle involvement. Death in infancy or early childhood may occur. {ECO:0000269|PubMed:36253531}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton. {ECO:0000305}.
uniprot
proteins
mass_dalton
77135
uniprot
proteins
pubmed
10427098
uniprot
proteins
pubmed
11842093
uniprot
proteins
pubmed
14660611
uniprot
proteins
pubmed
14662268
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15062084
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15668942
uniprot
proteins
pubmed
16427346
uniprot
proteins
pubmed
17097056
uniprot
proteins
pubmed
25208129
uniprot
proteins
pubmed
25616123
uniprot
proteins
pubmed
36253531
uniprot
proteins
pubmed
9734811
uniprot
proteins
sequence_length
727
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:10427098}. Cell projection, pseudopodium {ECO:0000269|PubMed:10427098}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10427098}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:10427098}. 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.
uniprot
proteins