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PSPH phosphoserine phosphatase [ Homo sapiens (human) ]

Gene ID: 5723, updated on 2-Nov-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
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Genomic context

See PSPH in Genome Data Viewer
Location:
7p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (56011064..56051444, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (56170861..56211278, complement)
RS_2024_09 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

Expression

  • Project title: HPA RNA-seq normal tissues 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

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 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)

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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.

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_2024_08

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