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    PSPH phosphoserine phosphatase [ Homo sapiens (human) ]

    Gene ID: 5723, updated on 11-Apr-2024

    Summary

    Official Symbol
    PSPHprovided by HGNC
    Official Full Name
    phosphoserine phosphataseprovided by HGNC
    Primary source
    HGNC:HGNC:9577
    See related
    Ensembl:ENSG00000146733 MIM:172480; AllianceGenome:HGNC:9577
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PSP; PSPHD
    Summary
    The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 3.8), thyroid (RPKM 3.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    7p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (56011064..56051444, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (56170861..56211278, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (56078757..56119137, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26043 Neighboring gene mitochondrial ribosomal protein S17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:56032587-56033320 Neighboring gene nipsnap homolog 2 Neighboring gene MPRA-validated peak6528 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26049 Neighboring gene small nucleolar RNA, H/ACA box 22B Neighboring gene chaperonin containing TCP1 subunit 6A Neighboring gene small nucleolar RNA, H/ACA box 15

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Deficiency of phosphoserine phosphatase
    MedGen: C1291463 OMIM: 614023 GeneReviews: Serine Deficiency Disorders
    Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-phosphoserine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables L-phosphoserine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables L-phosphoserine phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables magnesium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in L-serine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in L-serine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in L-serine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    phosphoserine phosphatase
    Names
    L-3-phosphoserine phosphatase
    O-phosphoserine phosphohydrolase
    PSPase
    NP_001357432.1
    NP_001357433.1
    NP_001357434.1
    NP_001357435.1
    NP_001357436.1
    NP_001357437.1
    NP_001357438.1
    NP_001357439.1
    NP_001357440.1
    NP_001357441.1
    NP_001357442.1
    NP_001357443.1
    NP_001357444.1
    NP_001357445.1
    NP_001357446.1
    NP_001357447.1
    NP_001357448.1
    NP_001357449.1
    NP_001357450.1
    NP_001357451.1
    NP_004568.2
    XP_006715824.1
    XP_016867956.1
    XP_016867957.1
    XP_016867958.1
    XP_047276600.1
    XP_047276601.1
    XP_047276602.1
    XP_047276603.1
    XP_047276604.1
    XP_047276605.1
    XP_047276606.1
    XP_047276607.1
    XP_047276608.1
    XP_047276609.1
    XP_047276610.1
    XP_054214668.1
    XP_054214669.1
    XP_054214670.1
    XP_054214671.1
    XP_054214672.1
    XP_054214673.1
    XP_054214674.1
    XP_054214675.1
    XP_054214676.1
    XP_054214677.1
    XP_054214678.1
    XP_054214679.1
    XP_054214680.1

    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.

    Genomic

    1. NG_011473.1 RefSeqGene

      Range
      5132..45512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001370503.1NP_001357432.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Related
      ENSP00000378854.3, ENST00000395471.7
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    2. NM_001370504.1NP_001357433.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    3. NM_001370505.1NP_001357434.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    4. NM_001370506.1NP_001357435.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    5. NM_001370507.1NP_001357436.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    6. NM_001370508.1NP_001357437.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    7. NM_001370509.1NP_001357438.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Related
      ENSP00000401639.2, ENST00000437355.6
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    8. NM_001370510.1NP_001357439.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    9. NM_001370511.1NP_001357440.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    10. NM_001370512.1NP_001357441.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Related
      ENSP00000398653.1, ENST00000421626.5
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    11. NM_001370513.1NP_001357442.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    12. NM_001370514.1NP_001357443.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    13. NM_001370515.1NP_001357444.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    14. NM_001370516.1NP_001357445.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    15. NM_001370517.1NP_001357446.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    16. NM_001370518.1NP_001357447.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    17. NM_001370519.1NP_001357448.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    18. NM_001370520.1NP_001357449.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    19. NM_001370521.1NP_001357450.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    20. NM_001370522.1NP_001357451.1  phosphoserine phosphatase

      Status: REVIEWED

      Source sequence(s)
      AC092579
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    21. NM_004577.4NP_004568.2  phosphoserine phosphatase

      See identical proteins and their annotated locations for NP_004568.2

      Status: REVIEWED

      Source sequence(s)
      AW574794, BC052958, BC063614, Y10275
      Consensus CDS
      CCDS5522.1
      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Related
      ENSP00000275605.3, ENST00000275605.8
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      56011064..56051444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420650.1XP_047276606.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    2. XM_047420652.1XP_047276608.1  phosphoserine phosphatase isoform X2

    3. XM_017012469.3XP_016867958.1  phosphoserine phosphatase isoform X2

      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (2) summary
      pfam00702
      Location:47141
      Hydrolase; haloacid dehalogenase-like hydrolase
      cl21460
      Location:10179
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    4. XM_047420649.1XP_047276605.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    5. XM_006715761.3XP_006715824.1  phosphoserine phosphatase isoform X2

      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (2) summary
      pfam00702
      Location:47141
      Hydrolase; haloacid dehalogenase-like hydrolase
      cl21460
      Location:10179
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    6. XM_017012468.3XP_016867957.1  phosphoserine phosphatase isoform X2

      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (2) summary
      pfam00702
      Location:47141
      Hydrolase; haloacid dehalogenase-like hydrolase
      cl21460
      Location:10179
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    7. XM_047420644.1XP_047276600.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    8. XM_047420645.1XP_047276601.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    9. XM_047420647.1XP_047276603.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    10. XM_047420648.1XP_047276604.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    11. XM_047420646.1XP_047276602.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    12. XM_047420653.1XP_047276609.1  phosphoserine phosphatase isoform X2

    13. XM_017012467.3XP_016867956.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
      UniProtKB/TrEMBL
      Q53EY1
      Conserved Domains (1) summary
      cd04309
      Location:15216
      HAD_PSP_eu; phosphoserine phosphatase eukaryotic-like, similar to human phosphoserine phosphatase
    14. XM_047420651.1XP_047276607.1  phosphoserine phosphatase isoform X2

    15. XM_047420654.1XP_047276610.1  phosphoserine phosphatase isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      56170861..56211278 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358699.1XP_054214674.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    2. XM_054358703.1XP_054214678.1  phosphoserine phosphatase isoform X2

    3. XM_054358704.1XP_054214679.1  phosphoserine phosphatase isoform X2

    4. XM_054358698.1XP_054214673.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    5. XM_054358700.1XP_054214675.1  phosphoserine phosphatase isoform X2

    6. XM_054358701.1XP_054214676.1  phosphoserine phosphatase isoform X2

    7. XM_054358693.1XP_054214668.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    8. XM_054358695.1XP_054214670.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    9. XM_054358696.1XP_054214671.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    10. XM_054358694.1XP_054214669.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    11. XM_054358697.1XP_054214672.1  phosphoserine phosphatase isoform X1

      UniProtKB/Swiss-Prot
      B2RCR5, P78330, Q7Z3S5
    12. XM_054358702.1XP_054214677.1  phosphoserine phosphatase isoform X2

    13. XM_054358705.1XP_054214680.1  phosphoserine phosphatase isoform X3