PDLIM7
PDZ and LIM domain protein 7
Also known as: ENIGMA, PDLI7_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NR12
- Gene
- PDLIM7
- Ensembl
- ENSG00000196923
- Chromosome
- 5
- Canonical length
- 457 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Actin filaments,Focal adhesion sites
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
457 residues, UniProt reviewed canonical sequence.
>Q9NR12|PDLIM7
1 MDSFKVVLEG PAPWGFRLQG GKDFNVPLSI SRLTPGGKAA QAGVAVGDWV LSIDGENAGS
61 LTHIEAQNKI RACGERLSLG LSRAQPVQSK PQKASAPAAD PPRYTFAPSV SLNKTARPFG
121 APPPADSAPQ QNGQPLRPLV PDASKQRLME NTEDWRPRPG TGQSRSFRIL AHLTGTEFMQ
181 DPDEEHLKKS SQVPRTEAPA PASSTPQEPW PGPTAPSPTS RPPWAVDPAF AERYAPDKTS
241 TVLTRHSQPA TPTPLQSRTS IVQAAAGGVP GGGSNNGKTP VCHQCHKVIR GRYLVALGHA
301 YHPEEFVCSQ CGKVLEEGGF FEEKGAIFCP PCYDVRYAPS CAKCKKKITG EIMHALKMTW
361 HVHCFTCAAC KTPIRNRAFY MEEGVPYCER DYEKMFGTKC HGCDFKIDAG DRFLEALGFS
421 WHDTCFVCAI CQINLEGKTF YSKKDRPLCK SHAFSHVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PDLIM7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 621 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 621 nTPM
- colon: 568 nTPM
- blood vessel: 550 nTPM
- endometrium: 468 nTPM
- urinary bladder: 316 nTPM
- fallopian tube: 282 nTPM
Single-cell type
- smooth muscle cells: 512 nCPM
- decidual stromal cells: 380 nCPM
- megakaryocytes: 321 nCPM
- peritubular myoid cells: 290 nCPM
- platelets: 255 nCPM
- breast myoepithelial cells: 252 nCPM
Immune cell
- neutrophil: 441 nTPM
- basophil: 178 nTPM
- eosinophil: 122 nTPM
- classical monocyte: 47 nTPM
- non-classical monocyte: 30 nTPM
- myeloid DC: 27 nTPM
Brain region
- choroid plexus: 36 nTPM
- hypothalamus: 32 nTPM
- cerebral cortex: 31 nTPM
- basal ganglia: 29 nTPM
- thalamus: 29 nTPM
- pons: 25 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.43
- gnomAD pLI
- 0.71
- gnomAD missense Z
- 0.73
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin cytoskeleton organization
- cell differentiation
- heart development
- muscle structure development
- ossification
- receptor-mediated endocytosis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PDLIM7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PDLIM7 as an antibody target. Whether an autoantibody or antibody against PDLIM7 could matter depends on whether native PDLIM7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PDLIM7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PDLIM7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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