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O75112 (LDB3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 133. 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:
LIM domain-binding protein 3
Alternative name(s):
Protein cypher
Z-band alternatively spliced PDZ-motif protein
Gene names
Name:LDB3
Synonyms:KIAA0613, ZASP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length727 AA.
Sequence statusComplete.
Protein existenceEvidence 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.8 UniProtKB Q9JKS4

Subcellular location

Cytoplasmperinuclear region. Cell projectionpseudopodium. Cytoplasmcytoskeleton. CytoplasmmyofibrilsarcomereZ 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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11

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.

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.

Alternative products

This entry describes 7 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.
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.
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.
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.
Isoform 7 (identifier: O75112-7)

The sequence of this isoform differs from the canonical sequence as follows:
     230-230: G → GADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSG
     299-361: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 727727LIM domain-binding protein 3
PRO_0000075767

Regions

Domain1 – 8484PDZ
Domain549 – 60759LIM zinc-binding 1
Domain608 – 66760LIM zinc-binding 2
Domain668 – 72760LIM zinc-binding 3

Natural variations

Alternative sequence108 – 364257Missing in isoform 3. Ref.1
VSP_051897
Alternative sequence108 – 229122DPALD…VGLPG → VVVNSPANADYQERFNPSAL KDSALSTHKPIEVKGLGGKA TIIHAQYNTPISMYSQDAIM DAIAGQAQAQGSDFS in isoform 2 and isoform 6. Ref.1 Ref.2
VSP_051898
Alternative sequence2301G → GADYQERFNPSALKDSALST HKPIEVKGLGGKATIIHAQY NTPISMYSQDAIMDAIAGQA QAQGSDFSG in isoform 4 and isoform 7. Ref.2
VSP_051899
Alternative sequence299 – 36163Missing in isoform 2 and isoform 7. Ref.1
VSP_051900
Alternative sequence299 – 32931STPIE…AAASP → RERFETERNSPRFAKLRNWH HGLSAQILNVK in isoform 4, isoform 5 and isoform 6. Ref.1 Ref.2
VSP_051901
Alternative sequence331 – 727397Missing in isoform 4, isoform 5 and isoform 6. Ref.1 Ref.2
VSP_051902
Natural variant551V → I. Ref.11
Corresponds to variant rs3740343 [ dbSNP | Ensembl ].
VAR_024008
Natural variant1011P → L.
Corresponds to variant rs45592139 [ dbSNP | Ensembl ].
VAR_050146
Natural variant1891S → L in CMD1C. Ref.10
Corresponds to variant rs45487699 [ dbSNP | Ensembl ].
VAR_024009
Natural variant2061T → I in CMD1C. Ref.10
VAR_024010
Natural variant3451I → M in CMD1C. Ref.10
VAR_024011
Natural variant6351V → I. Ref.11
Corresponds to variant rs45618633 [ dbSNP | Ensembl ].
VAR_024012
Natural variant6731D → N in CMD1C. Ref.11
Corresponds to variant rs45514002 [ dbSNP | Ensembl ].
VAR_024013
Isoform 2:
Natural variant1171D → N in dilated cardiomyopathy with left ventricular non-compaction.
Natural variant1361K → M in dilated cardiomyopathy with left ventricular non-compaction.
Natural variant1471A → T in MFM4.
Natural variant1651A → V in MFM4.
Isoform 4:
Natural variant2321D → N in dilated cardiomyopathy with left ventricular non-compaction.
Natural variant2511K → M in dilated cardiomyopathy with left ventricular non-compaction.
Natural variant2621A → T in MFM4.
Natural variant2801A → V in MFM4.
Natural variant3831R → C in MFM4.
Isoform 5:
Natural variant3151R → C in MFM-ZASP.
Isoform 6:
Natural variant1471A → T in MFM4.
Natural variant1651A → V in MFM4.
Natural variant2681R → C in MFM4.

Experimental info

Sequence conflict365 – 3684ASSY → VVVN in CAB46729. Ref.1
Sequence conflict3721V → N in CAB46729. Ref.1

Secondary structure

................. 727
Helix Strand Turn

Details...

Sequences

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

Last modified December 6, 2005. Version 2.
Checksum: 67B5B699D2B2AB68

FASTA72777,135
        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 

« Hide

Isoform 2 [UniParc].

Checksum: F3F1EA54284E4271
Show »

FASTA61766,671
Isoform 3 [UniParc].

Checksum: EEDF0FA566FF03D5
Show »

FASTA47050,620
Isoform 4 [UniParc].

Checksum: 9046ADEF699169BE
Show »

FASTA39842,832
Isoform 5 [UniParc].

Checksum: F6B8A00A6EF9B7E0
Show »

FASTA33035,637
Isoform 6 [UniParc].

Checksum: 099A4472DB4D9258
Show »

FASTA28330,999
Isoform 7 [UniParc].

Checksum: 2820E6271E03DD4C
Show »

FASTA73278,504

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[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. 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] (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. expand/collapse author list , 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 muscle.
[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]"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. expand/collapse author list , Bowles N.E., Chen J., Valle G., Towbin J.A.
J. Am. Coll. Cardiol. 42:2014-2027(2003) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

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.
AK304760 mRNA. Translation: BAG65515.1.
EF179181 Genomic DNA. Translation: ABN05284.1.
AC067750 Genomic DNA. No translation available.
BC010929 mRNA. Translation: AAH10929.1.
CCDSCCDS41544.1. [O75112-2]
CCDS41545.1. [O75112-6]
CCDS44450.1. [O75112-5]
CCDS53549.1. [O75112-4]
CCDS53550.1. [O75112-7]
CCDS7377.1. [O75112-1]
RefSeqNP_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]
UniGeneHs.657271.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1RGWNMR-A1-85[»]
ProteinModelPortalO75112.
SMRO75112. Positions 5-83, 536-724.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116326. 2 interactions.
IntActO75112. 1 interaction.

PTM databases

PhosphoSiteO75112.

2D gel databases

UCD-2DPAGEO75112.
Q9Y4Z5.

Proteomic databases

MaxQBO75112.
PaxDbO75112.
PRIDEO75112.

Protocols and materials databases

DNASU11155.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263066; ENSP00000263066; ENSG00000122367. [O75112-2]
ENST00000310944; ENSP00000311913; ENSG00000122367. [O75112-5]
ENST00000352360; ENSP00000263067; ENSG00000122367. [O75112-3]
ENST00000361373; ENSP00000355296; ENSG00000122367. [O75112-1]
ENST00000372056; ENSP00000361126; ENSG00000122367. [O75112-4]
ENST00000372066; ENSP00000361136; ENSG00000122367. [O75112-6]
ENST00000429277; ENSP00000401437; ENSG00000122367. [O75112-7]
ENST00000458213; ENSP00000409148; ENSG00000122367. [O75112-2]
ENST00000542786; ENSP00000438866; ENSG00000122367.
GeneID11155.
KEGGhsa:11155.
UCSCuc001kdr.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

CTD11155.
GeneCardsGC10P088426.
GeneReviewsLDB3.
HGNCHGNC:15710. LDB3.
HPAHPA048955.
MIM601493. phenotype.
605906. gene+phenotype.
609452. phenotype.
neXtProtNX_O75112.
Orphanet154. Familial isolated dilated cardiomyopathy.
98912. Late-onset distal myopathy, Markesbery-Griggs type.
54260. Left ventricular noncompaction.
PharmGKBPA30318.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG286537.
HOGENOMHOG000220936.
HOVERGENHBG051478.
InParanoidO75112.
OMAREMAAMQ.
OrthoDBEOG7HXCQB.
PhylomeDBO75112.
TreeFamTF106408.

Gene expression databases

ArrayExpressO75112.
BgeeO75112.
GenevestigatorO75112.

Family and domain databases

Gene3D2.10.110.10. 3 hits.
2.30.42.10. 1 hit.
InterProIPR001478. PDZ.
IPR006643. ZASP.
IPR001781. Znf_LIM.
[Graphical view]
PfamPF00412. LIM. 3 hits.
PF00595. PDZ. 1 hit.
[Graphical view]
SMARTSM00132. LIM. 3 hits.
SM00228. PDZ. 1 hit.
SM00735. ZM. 1 hit.
[Graphical view]
SUPFAMSSF50156. SSF50156. 1 hit.
PROSITEPS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 3 hits.
PS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLDB3. human.
EvolutionaryTraceO75112.
GeneWikiLDB3.
GenomeRNAi11155.
NextBio42413.
PROO75112.
SOURCESearch...

Entry information

Entry nameLDB3_HUMAN
AccessionPrimary (citable) accession number: O75112
Secondary accession number(s): A2TDB7 expand/collapse secondary AC list , A6NIV4, B4E3K3, 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: July 9, 2014
This is version 133 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 10

Human chromosome 10: entries, gene names and cross-references to MIM