PPFIA1 - PTPRF interacting protein alpha 1 Gene

Homo sapiens

Also known as LIP1; LIP.1; LIPRIN

Gene ID: 8500 | Gene type: protein coding

About PPFIA1

Cytogenetic location: 11q13.3 Genomic coordinates (GRCh38): 11:70,270,690-70,384,396 (from NCBI)

This gene has 27 transcripts (splice variants), 1 gene allele, 203 orthologues and 5 paralogues. Ubiquitous expression in testis (RPKM 18.0), thyroid (RPKM 12.7) and 25 other tissues.

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 guidance and mammary gland development. This protein binds to the intracellular membrane-distal Phosphatase domain of tyrosine Phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

PPFIA1 Products(3)

mRNA	Protein	Name
NM_001378006.1	NP_001364935.1	liprin-alpha-1 isoform c
NM_003626.5	NP_003617.1	liprin-alpha-1 isoform b
NM_177423.3	NP_803172.1	liprin-alpha-1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11931740	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cortical microtubule organization	IMP IMP: Inferred from mutant phenotype	24120883	GOA
acts upstream of or within negative regulation of protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	22266902	GOA
acts upstream of or within negative regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	22266902	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell cortex	IDA IDA: Inferred from direct assay	24120883	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PPFIA1 Protein Structure

SAM_1

SAM_2

0
200
400
600
800
1000
1202 a.a.

Protein Preferred Names

Protein Names

liprin-alpha-1

LAR-interacting protein 1

PPFIA1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PPFIA1	Q13136	GAS8	Homo sapiens	O95995	Y2H Array	32296183
Intra	PPFIA1	Q13136	GAS8	Homo sapiens	O95995	Y2H Prey Pooling	32296183
Intra	PPFIA1	Q13136	DYNC1I2	Homo sapiens	Q13409-3	Validated Y2H	32296183
Intra	PPFIA1	Q13136	TXLNA	Homo sapiens	P40222	Y2H Array	31515488
Intra	PPFIA1	Q13136	TXLNA	Homo sapiens	P40222	Validated Y2H	25416956
Intra	PPFIA1	Q13136	PPP2R5D	Homo sapiens	Q14738	Pull Down	16189514
Intra	PPFIA1	Q13136	PPP2R5A	Homo sapiens	Q15172	Validated Y2H	32296183
Intra	PPFIA1	Q13136	DTNB	Homo sapiens	O60941	Validated Y2H	25416956
Intra	PPFIA1	Q13136	DTNB	Homo sapiens	O60941	Y2H Array	31515488
Intra	PPFIA1	Q13136	DTNB	Homo sapiens	O60941	Y2H Prey Pooling	25416956
Intra	PPFIA1	Q13136	CCNH	Homo sapiens	P51946	Y2H Array	31515488
Intra	PPFIA1	Q13136	CCNH	Homo sapiens	P51946	Y2H Prey Pooling	25416956
Intra	PPFIA1	Q13136	MBIP	Homo sapiens	Q9NS73	Y2H Pooling	16189514
Intra	PPFIA1	Q13136	MBIP	Homo sapiens	Q9NS73	Y2H Array	19060904
Intra	PPFIA1	Q13136	MBIP	Homo sapiens	Q9NS73	Y2H Pooling	19060904
Intra	PPFIA1	Q13136	ELOA	Homo sapiens	Q14241	Validated Y2H	32296183
Cross	PPFIA1	Q13136	Gria2	Rattus norvegicus	P19491	Anti Bait CoIP	11931740
Cross	PPFIA1	Q13136	Grip1	Rattus norvegicus	P97879	Anti Bait CoIP	11931740

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Syndromic X-Linked Intellectual Disability Najm Type

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Micpch
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis	Fhl
Familial Erythrophagocytic Lymphohistiocytosis	Hemophagocytic Syndrome
FHL1	Hplh1
Hlh1	Fel
Familial Hemophagocytic Lymphohistiocytosis 1	Primary Hemophagocytic Lymphohistiocytosis
Familial Hlh	Hlh
Familial Hemophagocytic Lymphocytosis	Hemophagocytic Lymphohistiocytosis, Familial
Reticulosis, Familial Histiocytic	Hemophagocytic Reticulosis, Familial
Erythrophagocytic Lymphohistiocytosis, Familial	Familial Histiocytic Reticulosis
Familial Hemophagocytic Histiocytosis	Familial Hemophagocytic Reticulosis
Fhlh	Hplh
Primary Hemophagocytic Hymphohistiocytosis	Genetic Hemophagocytic Lymphohistiocytosis
Hemophagocytic Lymphohistiocytosis	Familial Hemophagocytic Lymphohistiocytosis Type 1

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10939	PPFIA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PPFIA1	VGNC	VGNC:76234
Rattus norvegicus	PPFIA1	RGD	RGD:1309009
Canis familiaris	PPFIA1	VGNC	VGNC:44843
Mus musculus	PPFIA1	MGD	MGI:1924750
Bos taurus	PPFIA1	VGNC	VGNC:56275
Felis catus	PPFIA1	VGNC	VGNC:105824

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