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The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PDLIM7 (PDZ And LIM Domain 7) is a Protein Coding gene. Diseases associated with PDLIM7 include Endobronchial Leiomyoma and Lung Leiomyoma. Among its related pathways are GDNF-Family Ligands and Receptor Interactions and Developmental Biology. An important paralog of this gene is LDB3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IBA | 21873635 |
GO:0005515 | protein binding | IEA,IPI | 16189514 |
GO:0046872 | metal ion binding | IEA | -- |
GO:0051371 | muscle alpha-actinin binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001725 | stress fiber | IBA | 21873635 |
GO:0001726 | ruffle | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | GDNF-Family Ligands and Receptor Interactions |
GDNF-Family Ligands and Receptor Interactions
.41
|
Development GDNF family signaling
.41
|
2 | Developmental Biology |
.51
|
|
3 | RET signaling |
.92
|
|
4 | EBV LMP1 signaling | ||
5 | Signaling events regulated by Ret tyrosine kinase |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001503 | ossification | IEA | -- |
GO:0006898 | receptor-mediated endocytosis | TAS | 7929196 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007411 | axon guidance | TAS | -- |
GO:0007507 | heart development | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 12a | · | 12b | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|
SP1: | - | ||||||
SP2: | - | ||||||
SP3: | - | ||||||
SP4: | |||||||
SP5: | |||||||
SP6: | |||||||
SP7: | |||||||
SP8: | |||||||
SP9: | |||||||
SP10: | |||||||
SP11: | |||||||
SP12: | |||||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PDLIM7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PDLIM7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
PDLIM7 30 |
|
||||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Pdlim7 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pdlim7 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PDLIM7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | PDLIM7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PDLIM7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.15717 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pdlim7 30 31 |
|
OneToOne | |
zgc65907 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Zasp52 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | alp-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs138351507 | Benign: not provided | 177,483,716(-) |
G/A NM_005451.5(PDLIM7):c.1302C>T (p.Asn434=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs149508660 | Benign: not provided | 177,489,464(-) |
G/A NM_005451.5(PDLIM7):c.798C>T (p.Ala266=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs28367007 | Benign: not provided | 177,484,155(-) |
C/A NM_005451.5(PDLIM7):c.1086G>T (p.Val362=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs335464 | Benign: not provided | 177,490,914(-) |
G/A NM_005451.5(PDLIM7):c.536-8C>T |
INTRON | |
rs78448898 | Benign: not provided | 177,489,554(-) |
C/T NM_005451.5(PDLIM7):c.708G>A (p.Pro236=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1161311 | CNV | duplication | 26073780 |
Disorder | Aliases | PubMed IDs |
---|---|---|
endobronchial leiomyoma |
|
|
lung leiomyoma |
|
|
pleural empyema |
|
|
lymphoepithelioma-like carcinoma |
|
|
pfeiffer syndrome |
|
|