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

Gene ID: 8497, updated on 4-Sep-2021

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
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
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Genomic context

See PPFIA4 in Genome Data Viewer
Location:
1q32.1
Exon count:
31
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (203026491..203078736)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202995619..203047864)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MGAT4 family member F, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr1.10803 Neighboring gene transmembrane protein 183A Neighboring gene uncharacterized LOC105371687 Neighboring gene myogenin promoter associated myogenic regulatory antisense long non coding RNA 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in synapse organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in presynaptic active zone TAS
Traceable Author Statement
more info
PubMed 
located_in 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)

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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_001304331.2NP_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, ENST00000367240.6
    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_001304332.2NP_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; ...
  3. NM_001393950.1NP_001380879.1  liprin-alpha-4 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC096632, AC105940, AL451082
    Conserved Domains (4) summary
    cd09562
    Location:839909
    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
    COG1196
    Location:161484
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  4. NM_001393951.1NP_001380880.1  liprin-alpha-4 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC096632, AC105940, AL451082
    Conserved Domains (5) summary
    cd09562
    Location:827897
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:9441009
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10291100
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    COG0419
    Location:36470
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    COG1196
    Location:262470
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  5. NM_001393952.1NP_001380881.1  liprin-alpha-4 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC096632, AC105940, AL451082
    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
    COG0419
    Location:25490
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    COG1196
    Location:262491
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cl15755
    Location:10501108
    SAM_superfamily; SAM (Sterile alpha motif )
  6. NM_001393953.1NP_001380882.1  liprin-alpha-4 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC096632, AC105940, AL451082
    Conserved Domains (5) summary
    cd09562
    Location:803873
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:920985
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10051076
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    COG1196
    Location:161448
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15921
    Location:21615
    CCDC158; Coiled-coil domain-containing protein 158
  7. NM_001393954.1NP_001380883.1  liprin-alpha-4 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC096632, AC105940, AL451082
    Conserved Domains (5) summary
    cd09562
    Location:803873
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:920985
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:10051076
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    COG1196
    Location:161448
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15921
    Location:21615
    CCDC158; Coiled-coil domain-containing protein 158
  8. NM_001393955.1NP_001380884.1  liprin-alpha-4 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC096632, AC105940, AL451082
    Conserved Domains (5) summary
    cd09562
    Location:782852
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:899964
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:9841055
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    TIGR02168
    Location:147424
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15921
    Location:21594
    CCDC158; Coiled-coil domain-containing protein 158
  9. NM_001393956.1NP_001380885.1  liprin-alpha-4 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC096632, AC105940, AL451082
    Conserved Domains (5) summary
    cd09562
    Location:782852
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:890955
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:9751046
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    TIGR02168
    Location:147424
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15921
    Location:21594
    CCDC158; Coiled-coil domain-containing protein 158
  10. NM_001393957.1NP_001380886.1  liprin-alpha-4 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC096632, AC105940, AL451082
    Conserved Domains (5) summary
    cd09562
    Location:759829
    SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
    cd09565
    Location:876941
    SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
    cd09568
    Location:9611032
    SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
    COG1196
    Location:145404
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15921
    Location:21571
    CCDC158; Coiled-coil domain-containing protein 158

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 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_017002607.2XP_016858096.1  liprin-alpha-4 isoform X3

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

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

    Related
    ENSP00000272198.6, ENST00000272198.10
    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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