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PPFIA4 PTPRF interacting protein alpha 4 [ Homo sapiens (human) ]

Gene ID: 8497, updated on 5-Aug-2018

Summary

Official Symbol
PPFIA4provided by HGNC
Official Full Name
PTPRF interacting protein alpha 4provided by HGNC
Primary source
HGNC:HGNC:9248
See related
Ensembl:ENSG00000143847 MIM:603145; Vega:OTTHUMG00000042123
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
Summary
PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]
Expression
Biased expression in brain (RPKM 8.9), heart (RPKM 8.4) and 10 other tissues See more
Orthologs

Genomic context

See PPFIA4 in Genome Data Viewer
Location:
1q32.1
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (203026491..203078736)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202995649..203047864)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein LOC641515 homolog Neighboring gene ribosomal protein S20 pseudogene 8 Neighboring gene transmembrane protein 183A Neighboring gene uncharacterized LOC105371687 Neighboring gene myogenin Neighboring gene adenosine A1 receptor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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,...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cell surface IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular TAS
Traceable Author Statement
more info
PubMed 
presynaptic active zone TAS
Traceable Author Statement
more info
PubMed 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
liprin-alpha-4
Names
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4

NCBI Reference Sequences (RefSeq)

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_001304331.1NP_001291260.1  liprin-alpha-4 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB020704, AC096632, AC105940, AK295757, AL540093, DA327222, EF428334
    UniProtKB/Swiss-Prot
    O75335
    UniProtKB/TrEMBL
    B4DIS5
    Related
    ENSP00000356209.2, OTTHUMP00000039088, ENST00000367240.6, OTTHUMT00000100269
    Conserved Domains (5) summary
    cd09562
    Location:848918
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:9651030
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10501121
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:848914
    SAM; Sterile alpha motif
    cl02488
    Location:338493
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  2. NM_001304332.1NP_001291261.1  liprin-alpha-4 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC096632, AC105940, AK023365, AK295757, AL540093, BC144262, DA327222, EF428334
    UniProtKB/Swiss-Prot
    O75335
    UniProtKB/TrEMBL
    B3KN22, B4DIS5
    Conserved Domains (5) summary
    cd09562
    Location:848918
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:9561021
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10411112
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:848914
    SAM; Sterile alpha motif
    cl02488
    Location:338493
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    203026491..203078736
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711586.2XP_006711649.1  liprin-alpha-4 isoform X1

    Conserved Domains (6) summary
    cd09562
    Location:848918
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:9651030
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10501121
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:848914
    SAM; Sterile alpha motif
    pfam01442
    Location:327488
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    cl02488
    Location:338493
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  2. XM_017002606.2XP_016858095.1  liprin-alpha-4 isoform X2

  3. XM_017002609.2XP_016858098.1  liprin-alpha-4 isoform X4

  4. XM_017002607.2XP_016858096.1  liprin-alpha-4 isoform X3

  5. XM_017002610.2XP_016858099.1  liprin-alpha-4 isoform X6

  6. XM_011510070.2XP_011508372.1  liprin-alpha-4 isoform X5

    Related
    ENSP00000272198.6, OTTHUMP00000039089, ENST00000272198.10, OTTHUMT00000100270
    Conserved Domains (4) summary
    cd09562
    Location:342412
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:459524
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:544615
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    smart00454
    Location:342408
    SAM; Sterile alpha motif

RNA

  1. XR_001737495.1 RNA Sequence

  2. XR_426804.3 RNA Sequence

  3. XR_002957844.1 RNA Sequence

  4. XR_001737498.2 RNA Sequence

  5. XR_001737496.2 RNA Sequence

  6. XR_001737497.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_015053.1: Suppressed sequence

    Description
    NM_015053.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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