Gene Gene information from NCBI Gene database.
Entrez ID 8500
Gene name PPFI scaffold protein A1
Gene symbol PPFIA1
Synonyms (NCBI Gene)
LIP.1LIP1LIPRIN
Chromosome 11
Chromosome location 11q13.3
Summary The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon
miRNA miRNA information provided by mirtarbase database.
232
miRTarBase ID miRNA Experiments Reference
MIRT042881 hsa-miR-324-3p CLASH 23622248
MIRT040944 hsa-miR-18a-3p CLASH 23622248
MIRT439925 hsa-miR-142-3p HITS-CLIP 22473208
MIRT439925 hsa-miR-142-3p HITS-CLIP 22473208
MIRT1252386 hsa-miR-101 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11931740, 12923177, 16189514, 19060904, 25416956, 26496610, 29892012, 31515488, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm TAS 7796809
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611054 9245 ENSG00000131626
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13136
Protein name Liprin-alpha-1 (LAR-interacting protein 1) (LIP-1) (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1) (PTPRF-interacting protein alpha-1)
Protein function May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association wi
PDB 1N7F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00536 SAM_1 876 941 SAM domain (Sterile alpha motif) Domain
PF00536 SAM_1 961 1025 SAM domain (Sterile alpha motif) Domain
PF07647 SAM_2 1048 1118 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:7796809, ECO:0000269|PubMed:9624153}.
Sequence
MMCEVMPTISEAEGPPGGGGGHGSGSPSQPDADSHFEQLMVSMLEERDRLLDTLRETQET
LALTQGKLHEVGHERDSLQRQLNTALPQEFAALTKELNVCREQLLEREEEIAELKAERNN
TRLLLEHLECLVSRHERSLRMTVVKRQAQSPAGVSSEVEVLKALKSLFEHHKALDEKVRE
RLRVALERCSLLEEELGATHKELMILKEQNNQKKTLTDGVLDINHEQENTPSTSGKRSSD
GSLSHEEDLAKVIELQEIISKQSREQSQMKERLASLSSHVTELEEDLDTARKDLIKSEEM
NTKLQRDVREAMAQKEDMEERITTLEKRYLAAQREATSVHDLNDKLENEIANKDSMHRQT
EDKNRQLQERLELAEQKLQQTLRKAETLPEVEAELAQRVAALSKAEERHGNIEERLRQME
AQLEEKNQELQRARQREKMNEEHNKRLSDTVDKLLSESNERLQLHLKERMAALEDKNSLL
REVESAKKQLEETQHDKDQLVLNIEALRAELDHMRLRGASLHHGRPHLGSVPDFRFPMAD
GHTDSYSTSAVLRRPQKGRLAALRDEPSKVQTLNEQDWERAQQASVLANVAQAFESDADV
SDGEDDRDTLLSSVDLLSPSGQADAHTLAMMLQEQLDAINKEIRLIQEEKENTEQRAEEI
ESRVGSGSLDNLGRFRSMSSIPPYPASSLASSSPPGSGRSTPRRIPHSPAREVDRLGVMT
LLPPSREEVRDDKTTIKCETSPPSSPRALRLDRLHKGALHTVSHEDIRDIRNSTGSQDGP
VSNPSSSNSSQDSLHKAPKKKGIKSSIGRLFGKKEKGRPGQTGKEALGQAGVSETDNSSQ
DALGLSKLGGQAEKNRKLQKKHELLEEARRQGLPFAQWDGPTVVVWLELWVGMPAWYVAA
CRANVKSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEI
MSLTSPSAPPTSRTTLAYG
DMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRGQLKMVDSFHRNSFQCG
IMCLR
RLNYDRKELERKREESQSEIKDVLVWSNDRVIRWILSIGLKEYANNLIESGVHGA
LLALDETFDFSALALLLQIPTQNTQARAVLEREFNNLL
VMGTDRRFDEDDDKSFRRAPSW
RKKFRPKDIRGLAAGSAETLPANFRVTSSMSSPSMQPKKMQMDGNVSGTQRLDSATVRTY
SC
Sequence length 1202
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle
Receptor-type tyrosine-protein phosphatases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PPFIA1-related disorder Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 19787783, 28720060, 30005669
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24886289, 28720060, 30005669, 32410585, 36171301 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 23453270
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Breast Ductal carcinoma of breast Pubtator 24886289 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 37158817 Associate
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 37158817 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 19787783, 28720060, 30005669
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of liver Liver Cancer BEFREE 15942670
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 18196592, 19787783, 30005669
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms BEFREE 28720060
★☆☆☆☆
Found in Text Mining only