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

    Gene ID: 8497, updated on 8-Dec-2022

    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; AllianceGenome:HGNC:9248
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PPFIA4 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203026491..203078736)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202289215..202341489)
    105.20220307 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 Sharpr-MPRA regulatory region 9252 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)

    NEW Try the new Transcript table

    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
      Consensus CDS
      CCDS91145.1
      UniProtKB/Swiss-Prot
      O75335
      UniProtKB/TrEMBL
      A0A8J8YUZ5, B4DIS5
      Related
      ENSP00000295706.5, ENST00000295706.9
      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
      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]
    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
      Related
      ENSP00000508419.1, ENST00000692772.1
      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 Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      202289215..202341489
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.