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PPFIA1 PTPRF interacting protein alpha 1 [ Homo sapiens (human) ]

Gene ID: 8500, updated on 8-May-2016
Official Symbol
PPFIA1provided by HGNC
Official Full Name
PTPRF interacting protein alpha 1provided by HGNC
Primary source
HGNC:HGNC:9245
See related
Ensembl:ENSG00000131626 HPRD:11451; MIM:611054; Vega:OTTHUMG00000167266
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LIP1; LIP.1; LIPRIN
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]
Orthologs
Location:
11q13.3
Exon count:
35
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (70270687..70384501)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (70116806..70230607)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928473 Neighboring gene anoctamin 1 Neighboring gene uncharacterized LOC105369373 Neighboring gene Fas associated via death domain Neighboring gene H2A histone family member Z pseudogene 4 Neighboring gene microRNA 548k Neighboring gene cortactin Neighboring gene SH3 and multiple ankyrin repeat domains 2 Neighboring gene SHANK2 antisense RNA 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Acetylcholine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Acetylcholine Neurotransmitter Release Cycle, organism-specific biosystemAcetylcholine neurotransmitter release cycle involves syntheis of choline, loading of clathrin scultpted synaptic vesicles, docking and priming of the acetyl choline loaded synaptic vesicles and then...
  • Dopamine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Dopamine Neurotransmitter Release Cycle, organism-specific biosystemDopamine neurotransmitter cycle occurs in dopaminergic neurons. Dopamine is synthesized and loaded into the clathrin sculpted monoamine transport vesicles. The vesicles are docked, primed and fused w...
  • Glutamate Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Glutamate Neurotransmitter Release Cycle, organism-specific biosystemCommunication at the synapse involves the release of glutamate from the presynaptic neuron and its binding to glutamate receptors on the postsynaptic cell to generate a series of events that lead to ...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
  • Norepinephrine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Norepinephrine Neurotransmitter Release Cycle, organism-specific biosystemNoradrenalin release cycle consists of reacidification of the empty clathrin sculpted monoamine transport vesicle, loading of dopamine into reacidified clathrin coated monamine transport vesicle, con...
  • Serotonin Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Serotonin Neurotransmitter Release Cycle, organism-specific biosystemSerotonin is synthesized in the serotonergic neurons in the central nervous system and the enterochrommaffin cells of the gastroinetstinal system. Serotonin is loaded into the clathrin sculpted monoa...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ41337, FLJ42630, FLJ43474, MGC26800

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signal transducer activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell-matrix adhesion TAS
Traceable Author Statement
more info
PubMed 
glutamate secretion TAS
Traceable Author Statement
more info
 
negative regulation of establishment of protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
neurotransmitter secretion TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion IDA
Inferred from Direct Assay
more info
 
presynaptic active zone TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
liprin-alpha-1
Names
LAR-interacting protein 1
LIP-1
Liprin-alpha1
PTPRF-interacting protein alpha-1
protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_003626.3NP_003617.1  liprin-alpha-1 isoform b

    See identical proteins and their annotated locations for NP_003617.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and it encodes the longer protein (isoform b).
    Source sequence(s)
    AK124621, AW163189, CK902590, U22816
    Consensus CDS
    CCDS31627.1
    UniProtKB/Swiss-Prot
    Q13136
    UniProtKB/TrEMBL
    B3KVS8
    Related
    ENSP00000253925, OTTHUMP00000235552, ENST00000253925, OTTHUMT00000393905
    Conserved Domains (6) summary
    cd09562
    Location:875945
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:9621027
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10471118
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:10481118
    SAM; Sterile alpha motif
    pfam06008
    Location:243487
    Laminin_I; Laminin Domain I
    cl12013
    Location:324445
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. NM_177423.2NP_803172.1  liprin-alpha-1 isoform a

    See identical proteins and their annotated locations for NP_803172.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 3' end, which includes a part of the coding region and 3' UTR, as compared to variant 2. The resulting protein (isoform a) has a distinct and shorter C-terminus, as compared to isoform b.
    Source sequence(s)
    AW163189, BF352121, U22815
    Consensus CDS
    CCDS31628.1
    UniProtKB/Swiss-Prot
    Q13136
    Related
    ENSP00000374198, OTTHUMP00000235553, ENST00000389547, OTTHUMT00000393906
    Conserved Domains (6) summary
    cd09562
    Location:875945
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:9621027
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10471118
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:10481118
    SAM; Sterile alpha motif
    pfam06008
    Location:243487
    Laminin_I; Laminin Domain I
    cl12013
    Location:324445
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RNA

  1. NR_045286.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses a different splice site in an internal exon and contains an alternate exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB209314, AW163189, CK902590, U22816
    Related
    ENST00000532504, OTTHUMT00000393907

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    70270687..70384501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545309.1XP_011543611.1  

    Conserved Domains (5) summary
    cd09562
    Location:9491019
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:10661131
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:11511222
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:11521222
    SAM; Sterile alpha motif
    pfam06008
    Location:243512
    Laminin_I; Laminin Domain I
  2. XM_011545307.1XP_011543609.1  

    Conserved Domains (6) summary
    cd09562
    Location:9491019
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:10571122
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:11421213
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:11431213
    SAM; Sterile alpha motif
    pfam06008
    Location:243512
    Laminin_I; Laminin Domain I
    cl12013
    Location:324470
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_011545311.1XP_011543613.1  

    Conserved Domains (6) summary
    cd09562
    Location:9491019
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:10371102
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:11221193
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:11231193
    SAM; Sterile alpha motif
    pfam06008
    Location:243512
    Laminin_I; Laminin Domain I
    cl12013
    Location:324470
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  4. XM_011545312.1XP_011543614.1  

    Conserved Domains (6) summary
    cd09562
    Location:9491019
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:10361101
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:11211192
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:11221192
    SAM; Sterile alpha motif
    pfam06008
    Location:243512
    Laminin_I; Laminin Domain I
    cl12013
    Location:324470
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  5. XM_011545308.1XP_011543610.1  

    Conserved Domains (6) summary
    cd09562
    Location:9391009
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:10561121
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:11411212
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:11421212
    SAM; Sterile alpha motif
    pfam06008
    Location:243512
    Laminin_I; Laminin Domain I
    cl12013
    Location:324470
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  6. XM_011545313.1XP_011543615.1  

    Conserved Domains (5) summary
    cd09562
    Location:910980
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:10271092
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:11121183
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:11131183
    SAM; Sterile alpha motif
    pfam06008
    Location:243512
    Laminin_I; Laminin Domain I
  7. XM_011545316.1XP_011543618.1  

    Conserved Domains (5) summary
    cd09562
    Location:910980
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:9971062
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10821153
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:10831153
    SAM; Sterile alpha motif
    pfam06008
    Location:243512
    Laminin_I; Laminin Domain I
  8. XM_011545314.1XP_011543616.1  

    Conserved Domains (5) summary
    cd09562
    Location:900970
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:10171082
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:11021173
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:11031173
    SAM; Sterile alpha motif
    pfam06008
    Location:243512
    Laminin_I; Laminin Domain I
  9. XM_011545317.1XP_011543619.1  

    Conserved Domains (5) summary
    cd09562
    Location:900970
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:9871052
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10721143
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:10731143
    SAM; Sterile alpha motif
    pfam06008
    Location:243512
    Laminin_I; Laminin Domain I
  10. XM_011545310.1XP_011543612.1  

    Conserved Domains (6) summary
    cd09562
    Location:924994
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:10411106
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:11261197
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:11271197
    SAM; Sterile alpha motif
    pfam06008
    Location:243487
    Laminin_I; Laminin Domain I
    cl12013
    Location:324445
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  11. XM_011545315.1XP_011543617.1  

    Conserved Domains (6) summary
    cd09562
    Location:885955
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:10021067
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10871158
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:10881158
    SAM; Sterile alpha motif
    pfam06008
    Location:243487
    Laminin_I; Laminin Domain I
    cl12013
    Location:324445
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  12. XM_011545319.1XP_011543621.1  

    Conserved Domains (6) summary
    cd09562
    Location:885955
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:9931058
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10781149
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:10791149
    SAM; Sterile alpha motif
    pfam06008
    Location:243487
    Laminin_I; Laminin Domain I
    cl12013
    Location:324445
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  13. XM_006718716.2XP_006718779.1  

    See identical proteins and their annotated locations for XP_006718779.1

    Conserved Domains (6) summary
    cd09562
    Location:9491019
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:10661131
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:11511222
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:11521222
    SAM; Sterile alpha motif
    pfam06008
    Location:243512
    Laminin_I; Laminin Domain I
    cl12013
    Location:324470
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  14. XM_011545306.1XP_011543608.1  

    See identical proteins and their annotated locations for XP_011543608.1

    Conserved Domains (6) summary
    cd09562
    Location:9491019
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:10661131
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:11511222
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:11521222
    SAM; Sterile alpha motif
    pfam06008
    Location:243512
    Laminin_I; Laminin Domain I
    cl12013
    Location:324470
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  15. XM_011545318.1XP_011543620.1  

    Conserved Domains (4) summary
    cd09562
    Location:256326
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:373438
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:458529
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:459529
    SAM; Sterile alpha motif

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    69999952..70114102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)