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    PTPN5 protein tyrosine phosphatase non-receptor type 5 [ Homo sapiens (human) ]

    Gene ID: 84867, updated on 9-Dec-2024

    Summary

    Official Symbol
    PTPN5provided by HGNC
    Official Full Name
    protein tyrosine phosphatase non-receptor type 5provided by HGNC
    Primary source
    HGNC:HGNC:9657
    See related
    Ensembl:ENSG00000110786 MIM:176879; AllianceGenome:HGNC:9657
    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
    STEP; STEP61; PTPSTEP
    Summary
    Enables phosphotyrosine residue binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within protein dephosphorylation. Predicted to be located in membrane and nucleoplasm. Predicted to be active in cell junction; cytosol; and plasma membrane. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 11.0), testis (RPKM 0.9) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See PTPN5 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18727928..18792721, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18825966..18890761, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18749475..18814268, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak1228 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18690003-18690504 Neighboring gene SRSF3 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:18720033-18720534 Neighboring gene IGSF22 antisense RNA 1 Neighboring gene transmembrane protein 86A Neighboring gene immunoglobulin superfamily member 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:18770656-18771538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18783056-18783556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18783557-18784057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18792057-18792558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18792559-18793058 Neighboring gene Sharpr-MPRA regulatory region 5421 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:18819993-18821192 Neighboring gene MAS related GPR family member X8, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4514 Neighboring gene MAS related GPR family member X7, pseudogene

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14427

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone H2AXY142 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables non-membrane spanning protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphotyrosine residue binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein tyrosine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein tyrosine phosphatase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein tyrosine phosphatase activity, metal-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein dephosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    tyrosine-protein phosphatase non-receptor type 5
    Names
    neural-specific protein-tyrosine phosphatase
    protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)
    protein-tyrosine phosphatase striatum-enriched
    striatal-enriched protein tyrosine phosphatase
    striatum-enriched protein-tyrosine phosphatase
    NP_001035059.1
    NP_001265165.1
    NP_001265167.1
    NP_001265168.1
    NP_008837.1
    NP_116170.3
    XP_016873923.1
    XP_016873924.1
    XP_016873925.1
    XP_016873926.1
    XP_016873927.1
    XP_016873928.1
    XP_054226212.1
    XP_054226213.1
    XP_054226214.1
    XP_054226215.1
    XP_054226216.1
    XP_054226217.1

    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_001039970.2NP_001035059.1  tyrosine-protein phosphatase non-receptor type 5 isoform b

      See identical proteins and their annotated locations for NP_001035059.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AK127312, AL832541, BC046435
      Consensus CDS
      CCDS41626.1
      UniProtKB/TrEMBL
      B7Z2F8
      Conserved Domains (2) summary
      smart00194
      Location:267520
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:293520
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    2. NM_001278236.1NP_001265165.1  tyrosine-protein phosphatase non-receptor type 5 isoform b

      See identical proteins and their annotated locations for NP_001265165.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a. Variants 3 and 4 encode the same isoform b.
      Source sequence(s)
      AK127312, AL832541, BC046435
      Consensus CDS
      CCDS41626.1
      UniProtKB/TrEMBL
      B7Z2F8
      Related
      ENSP00000379473.1, ENST00000396170.5
      Conserved Domains (2) summary
      smart00194
      Location:267520
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:293520
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    3. NM_001278238.2NP_001265167.1  tyrosine-protein phosphatase non-receptor type 5 isoform c

      See identical proteins and their annotated locations for NP_001265167.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an internal exon in the 5' region which causes translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-teminus, compared to isoform a.
      Source sequence(s)
      AK127312, AK295604, AL832541, BC046435
      Consensus CDS
      CCDS60746.1
      UniProtKB/TrEMBL
      B7Z2F8
      Related
      ENSP00000379471.1, ENST00000396168.1
      Conserved Domains (2) summary
      smart00194
      Location:275528
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:301528
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    4. NM_001278239.2NP_001265168.1  tyrosine-protein phosphatase non-receptor type 5 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an internal exon in the 5' region which causes translation initiation at a downstream start codon, and also has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (d) has a shorter N-terminus and lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AK294673, AL832541, BC046435, BC064807
      UniProtKB/TrEMBL
      B7Z2F8
      Conserved Domains (2) summary
      smart00194
      Location:243496
      PTPc; Protein tyrosine phosphatase, catalytic domain
      cd00047
      Location:269496
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    5. NM_006906.2NP_008837.1  tyrosine-protein phosphatase non-receptor type 5 isoform a

      See identical proteins and their annotated locations for NP_008837.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same longest isoform (a).
      Source sequence(s)
      AL832541, BC046435, BC064807
      Consensus CDS
      CCDS7845.1
      UniProtKB/Swiss-Prot
      B3KXG7, B7Z386, B7ZAF5, D3DQY7, P54829, Q6P1Z2, Q8N2A1, Q8NDP8
      UniProtKB/TrEMBL
      Q86TL6
      Related
      ENSP00000351342.2, ENST00000358540.7
      Conserved Domains (1) summary
      smart00194
      Location:299552
      PTPc; Protein tyrosine phosphatase, catalytic domain
    6. NM_032781.4NP_116170.3  tyrosine-protein phosphatase non-receptor type 5 isoform a

      See identical proteins and their annotated locations for NP_116170.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform a.
      Source sequence(s)
      AK127312, BC046435, BC064807
      Consensus CDS
      CCDS7845.1
      UniProtKB/Swiss-Prot
      B3KXG7, B7Z386, B7ZAF5, D3DQY7, P54829, Q6P1Z2, Q8N2A1, Q8NDP8
      UniProtKB/TrEMBL
      Q86TL6
      Conserved Domains (1) summary
      smart00194
      Location:299552
      PTPc; Protein tyrosine phosphatase, catalytic domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      18727928..18792721 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018439.2XP_016873928.1  tyrosine-protein phosphatase non-receptor type 5 isoform X5

    2. XM_017018436.2XP_016873925.1  tyrosine-protein phosphatase non-receptor type 5 isoform X2

    3. XM_017018435.3XP_016873924.1  tyrosine-protein phosphatase non-receptor type 5 isoform X1

    4. XM_017018437.2XP_016873926.1  tyrosine-protein phosphatase non-receptor type 5 isoform X3

    5. XM_017018434.3XP_016873923.1  tyrosine-protein phosphatase non-receptor type 5 isoform X1

    6. XM_017018438.3XP_016873927.1  tyrosine-protein phosphatase non-receptor type 5 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      18825966..18890761 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370242.1XP_054226217.1  tyrosine-protein phosphatase non-receptor type 5 isoform X5

    2. XM_054370239.1XP_054226214.1  tyrosine-protein phosphatase non-receptor type 5 isoform X2

    3. XM_054370238.1XP_054226213.1  tyrosine-protein phosphatase non-receptor type 5 isoform X1

    4. XM_054370240.1XP_054226215.1  tyrosine-protein phosphatase non-receptor type 5 isoform X3

    5. XM_054370237.1XP_054226212.1  tyrosine-protein phosphatase non-receptor type 5 isoform X1

    6. XM_054370241.1XP_054226216.1  tyrosine-protein phosphatase non-receptor type 5 isoform X4