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Protein

PDZ and LIM domain protein 5

Gene

PDLIM5

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

Functioni

May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May restrain postsynaptic growth of excitatory synapses (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins

Names & Taxonomyi

Protein namesi
Recommended name:
PDZ and LIM domain protein 5
Alternative name(s):
Enigma homolog
Enigma-like PDZ and LIM domains protein
Gene namesi
Name:PDLIM5
Synonyms:ENH
ORF Names:L9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000163110.14
HGNCiHGNC:17468 PDLIM5
MIMi605904 gene
neXtProtiNX_Q96HC4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Postsynaptic cell membrane, Synapse, Synaptosome

Pathology & Biotechi

Organism-specific databases

DisGeNETi10611
OpenTargetsiENSG00000163110
PharmGKBiPA134917248

Polymorphism and mutation databases

BioMutaiPDLIM5
DMDMi317373590

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000758772 – 596PDZ and LIM domain protein 5Add BLAST595

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1 Publication1
Modified residuei2PhosphoserineBy similarity1
Modified residuei89N6-acetyllysine; alternateBy similarity1
Modified residuei89N6-succinyllysine; alternateBy similarity1
Cross-linki89Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei111PhosphoserineCombined sources1
Modified residuei134PhosphoserineCombined sources1
Modified residuei137PhosphoserineCombined sources1
Modified residuei228PhosphoserineBy similarity1
Modified residuei260PhosphoserineCombined sources1
Modified residuei309PhosphoserineCombined sources1
Modified residuei313PhosphoserineCombined sources1
Modified residuei322PhosphoserineBy similarity1
Modified residuei350N6-acetyllysineBy similarity1
Modified residuei360PhosphoserineCombined sources1
Modified residuei362PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ96HC4
MaxQBiQ96HC4
PaxDbiQ96HC4
PeptideAtlasiQ96HC4
PRIDEiQ96HC4

PTM databases

iPTMnetiQ96HC4
PhosphoSitePlusiQ96HC4
SwissPalmiQ96HC4

Expressioni

Tissue specificityi

Heart and skeletal muscle specific. Expression is commonly increased in the brain of patients with bipolar disorder, schizophrenia, and major depression.3 Publications

Gene expression databases

BgeeiENSG00000163110
CleanExiHS_PDLIM5
ExpressionAtlasiQ96HC4 baseline and differential
GenevisibleiQ96HC4 HS

Organism-specific databases

HPAiCAB013511
HPA016740
HPA020026

Interactioni

Subunit structurei

Interacts with various PKC isoforms through the LIM domains. Interacts (via LIM domains) with SIPA1L1. Interacts (via PDZ domain) with actin and ACTN1 (By similarity).By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115857, 66 interactors
DIPiDIP-34898N
IntActiQ96HC4, 25 interactors
MINTiQ96HC4
STRINGi9606.ENSP00000321746

Structurei

Secondary structure

1596
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi3 – 12Combined sources10
Beta strandi16 – 21Combined sources6
Helixi22 – 24Combined sources3
Beta strandi26 – 33Combined sources8
Helixi38 – 41Combined sources4
Beta strandi49 – 53Combined sources5
Helixi63 – 71Combined sources9
Beta strandi75 – 82Combined sources8
Beta strandi409 – 411Combined sources3
Turni413 – 415Combined sources3
Beta strandi419 – 423Combined sources5
Beta strandi431 – 434Combined sources4
Beta strandi437 – 439Combined sources3
Turni441 – 443Combined sources3
Beta strandi447 – 449Combined sources3
Beta strandi454 – 456Combined sources3
Beta strandi458 – 463Combined sources6
Helixi468 – 474Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DARNMR-A400-476[»]
2UZCX-ray1.50A/B/C/D/E1-83[»]
ProteinModelPortaliQ96HC4
SMRiQ96HC4
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96HC4

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 85PDZPROSITE-ProRule annotationAdd BLAST84
Domaini418 – 477LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST60
Domaini477 – 536LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST60
Domaini536 – 596LIM zinc-binding 3PROSITE-ProRule annotationAdd BLAST61

Keywords - Domaini

LIM domain, Repeat

Phylogenomic databases

eggNOGiKOG1703 Eukaryota
ENOG410XRD4 LUCA
GeneTreeiENSGT00760000118910
HOGENOMiHOG000220936
HOVERGENiHBG056486
InParanoidiQ96HC4
OMAiSTNNMAY
OrthoDBiEOG091G0A45
PhylomeDBiQ96HC4
TreeFamiTF106408

Family and domain databases

InterProiView protein in InterPro
IPR031847 DUF4749
IPR001478 PDZ
IPR036034 PDZ_sf
IPR001781 Znf_LIM
PfamiView protein in Pfam
PF15936 DUF4749, 1 hit
PF00412 LIM, 3 hits
PF00595 PDZ, 1 hit
SMARTiView protein in SMART
SM00132 LIM, 3 hits
SM00228 PDZ, 1 hit
SUPFAMiSSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS00478 LIM_DOMAIN_1, 2 hits
PS50023 LIM_DOMAIN_2, 3 hits
PS50106 PDZ, 1 hit

Sequences (7)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96HC4-1) [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
MSNYSVSLVG PAPWGFRLQG GKDFNMPLTI SSLKDGGKAA QANVRIGDVV
60 70 80 90 100
LSIDGINAQG MTHLEAQNKI KGCTGSLNMT LQRASAAPKP EPVPVQKGEP
110 120 130 140 150
KEVVKPVPIT SPAVSKVTST NNMAYNKAPR PFGSVSSPKV TSIPSPSSAF
160 170 180 190 200
TPAHATTSSH ASPSPVAAVT PPLFAASGLH ANANLSADQS PSALSAGKTA
210 220 230 240 250
VNVPRQPTVT SVCSETSQEL AEGQRRGSQG DSKQQNGPPR KHIVERYTEF
260 270 280 290 300
YHVPTHSDAS KKRLIEDTED WRPRTGTTQS RSFRILAQIT GTEHLKESEA
310 320 330 340 350
DNTKKANNSQ EPSPQLASSV ASTRSMPESL DSPTSGRPGV TSLTAAAAFK
360 370 380 390 400
PVGSTGVIKS PSWQRPNQGV PSTGRISNSA TYSGSVAPAN SALGQTQPSD
410 420 430 440 450
QDTLVQRAEH IPAGKRTPMC AHCNQVIRGP FLVALGKSWH PEEFNCAHCK
460 470 480 490 500
NTMAYIGFVE EKGALYCELC YEKFFAPECG RCQRKILGEV ISALKQTWHV
510 520 530 540 550
SCFVCVACGK PIRNNVFHLE DGEPYCETDY YALFGTICHG CEFPIEAGDM
560 570 580 590
FLEALGYTWH DTCFVCSVCC ESLEGQTFFS KKDKPLCKKH AHSVNF
Length:596
Mass (Da):63,945
Last modified:January 11, 2011 - v5
Checksum:iBBEAB9EDFA060736
GO
Isoform 2 (identifier: Q96HC4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     98-206: Missing.
     237-237: G → GKIPPKR
     307-337: NNSQEPSPQLASSVASTRSMPESLDSPTSGR → KEKIPLHVFSPKYTKLRDWHHEVSARALNVQ
     338-596: Missing.

Show »
Length:234
Mass (Da):25,930
Checksum:iAC29AA4B14829C09
GO
Isoform 3 (identifier: Q96HC4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     98-117: GEPKEVVKPVPITSPAVSKV → KTQVTNNPGTVKIPPKRPPR
     118-240: Missing.
     307-337: NNSQEPSPQLASSVASTRSMPESLDSPTSGR → KEKIPLHVFSPKYTKLRDWHHEVSARALNVQ
     338-596: Missing.

Show »
Length:214
Mass (Da):23,823
Checksum:iFB118BF53EE7CDB4
GO
Isoform 4 (identifier: Q96HC4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     98-206: Missing.

Note: No experimental confirmation available.
Show »
Length:487
Mass (Da):53,078
Checksum:i2790407D3FF2DED5
GO
Isoform 5 (identifier: Q96HC4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     33-136: LKDGGKAAQA...KAPRPFGSVS → AGVQWRNLGS...ATIYPEIILY
     137-596: Missing.

Show »
Length:136
Mass (Da):15,116
Checksum:i33801E4A7B117739
GO
Isoform 6 (identifier: Q96HC4-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     98-206: Missing.
     237-237: G → GKIPPKR
     307-307: N → KFDSALEDLP...TGSIHVKKTS

Note: No experimental confirmation available.
Show »
Length:625
Mass (Da):67,729
Checksum:iFA6C01ACAE8B48B0
GO
Isoform 7 (identifier: Q96HC4-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     98-206: Missing.
     237-237: G → GKIPPKR
     587-596: Missing.

Note: No experimental confirmation available.
Show »
Length:483
Mass (Da):52,645
Checksum:iFE2F3A27E1EBFC11
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q96HC4-2)
Sequence conflicti221D → G in AL833438 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023779136S → F1 PublicationCorresponds to variant dbSNP:rs2452600Ensembl.1
Natural variantiVAR_046662319S → L2 PublicationsCorresponds to variant dbSNP:rs1064238Ensembl.1
Natural variantiVAR_046663345A → T6 PublicationsCorresponds to variant dbSNP:rs966845Ensembl.1
Natural variantiVAR_046664381T → A3 PublicationsCorresponds to variant dbSNP:rs7690296Ensembl.1
Natural variantiVAR_046665388P → S. Corresponds to variant dbSNP:rs7690464Ensembl.1
Natural variantiVAR_046666492S → NCombined sources6 PublicationsCorresponds to variant dbSNP:rs13107595Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04509833 – 136LKDGG…FGSVS → AGVQWRNLGSPQPPSPEFKR FSCLSLPSSWDYRHVPPRLA NFVFLVETKFPYVGQAGLEL PTSGDLPTSASQSAKITGVS HRAWPTLFYTLLFFATIYPE IILY in isoform 5. 1 PublicationAdd BLAST104
Alternative sequenceiVSP_03907598 – 206Missing in isoform 2, isoform 4, isoform 6 and isoform 7. 2 PublicationsAdd BLAST109
Alternative sequenceiVSP_03920698 – 117GEPKE…AVSKV → KTQVTNNPGTVKIPPKRPPR in isoform 3. 2 PublicationsAdd BLAST20
Alternative sequenceiVSP_039207118 – 240Missing in isoform 3. 2 PublicationsAdd BLAST123
Alternative sequenceiVSP_045099137 – 596Missing in isoform 5. 1 PublicationAdd BLAST460
Alternative sequenceiVSP_039076237G → GKIPPKR in isoform 2, isoform 6 and isoform 7. 1 Publication1
Alternative sequenceiVSP_039077307 – 337NNSQE…PTSGR → KEKIPLHVFSPKYTKLRDWH HEVSARALNVQ in isoform 2 and isoform 3. 3 PublicationsAdd BLAST31
Alternative sequenceiVSP_053796307N → KFDSALEDLPKSGPHPPATP QVLTIGSQVATLSKVATTYS SLSSSTGNVEDSFEGFRNFS TFSSPARYSAAVLSSAAATV SAVIATKTRLYTPERYHSLL DALCISPVSKPLAFSYLQSS RKSTGSIHVKKTS in isoform 6. Curated1
Alternative sequenceiVSP_039078338 – 596Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST259
Alternative sequenceiVSP_053797587 – 596Missing in isoform 7. Curated10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF061258 mRNA Translation: AAC15767.1
AY345240 mRNA Translation: AAR09142.1
AY598328 mRNA Translation: AAT06739.1
BT007328 mRNA Translation: AAP35992.1
AK291624 mRNA Translation: BAF84313.1
AK291898 mRNA Translation: BAF84587.1
CR610626 mRNA No translation available.
AL833438 mRNA No translation available.
AC093778 Genomic DNA No translation available.
AC108067 Genomic DNA No translation available.
AC109925 Genomic DNA No translation available.
CH471057 Genomic DNA Translation: EAX06054.1
BC017902 mRNA Translation: AAH17902.1
BC008741 mRNA Translation: AAH08741.1
CCDSiCCDS3641.1 [Q96HC4-1]
CCDS47102.1 [Q96HC4-4]
CCDS47103.1 [Q96HC4-2]
CCDS47104.1 [Q96HC4-3]
CCDS58915.1 [Q96HC4-5]
CCDS58916.1 [Q96HC4-6]
CCDS58917.1 [Q96HC4-7]
RefSeqiNP_001011515.1, NM_001011515.2 [Q96HC4-2]
NP_001011516.1, NM_001011516.2 [Q96HC4-3]
NP_001243358.1, NM_001256429.1 [Q96HC4-5]
NP_006448.4, NM_006457.4
UniGeneiHs.480311
Hs.732677

Genome annotation databases

EnsembliENST00000317968; ENSP00000321746; ENSG00000163110 [Q96HC4-1]
ENST00000318007; ENSP00000322021; ENSG00000163110 [Q96HC4-3]
ENST00000359265; ENSP00000352210; ENSG00000163110 [Q96HC4-5]
ENST00000380180; ENSP00000369527; ENSG00000163110 [Q96HC4-2]
ENST00000503974; ENSP00000424297; ENSG00000163110 [Q96HC4-7]
ENST00000508216; ENSP00000426804; ENSG00000163110 [Q96HC4-2]
ENST00000514743; ENSP00000424360; ENSG00000163110 [Q96HC4-6]
ENST00000542407; ENSP00000442187; ENSG00000163110 [Q96HC4-4]
ENST00000615540; ENSP00000480359; ENSG00000163110 [Q96HC4-6]
GeneIDi10611
KEGGihsa:10611
UCSCiuc003htf.5 human [Q96HC4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPDLI5_HUMAN
AccessioniPrimary (citable) accession number: Q96HC4
Secondary accession number(s): A8K6F9
, D6RB78, E9PBF5, O60705, Q56VN4, Q5UW38, Q8WVK0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: January 11, 2011
Last modified: May 23, 2018
This is version 164 of the entry and version 5 of the sequence. See 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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

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