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PSPHP1 phosphoserine phosphatase pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 8781, updated on 28-Oct-2024

Summary

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Official Symbol
PSPHP1provided by HGNC
Official Full Name
phosphoserine phosphatase pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:9578
See related
Ensembl:ENSG00000226278 MIM:604239; AllianceGenome:HGNC:9578
Gene type
pseudo
RefSeq status
INFERRED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CO9; PSPHL
Summary
This gene is significantly upregulated in Fanconi's anemia fibroblasts but downregulated or absent in fibroblasts from normal donors. It is also highly expressed in FA B-cells of complementation group A. [provided by RefSeq, Jul 2008]
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Genomic context

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See PSPHP1 in Genome Data Viewer
Location:
7p11.2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (55764797..55773683)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (55925055..55933941)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (55832490..55841376)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene putative uncharacterized protein FLJ44672 Neighboring gene putative uncharacterized protein FLJ44672 Neighboring gene uncharacterized LOC102723656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:55842651-55843150 Neighboring gene RNA, U6 small nuclear 1126, pseudogene Neighboring gene septin 14 Neighboring gene capicua transcriptional repressor pseudogene 12

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. PSPHL and breast cancer in African American women: causative gene or population stratification? Rummel S, et al. BMC Genet, 2014 Mar 20. PMID 24650299, Free PMC Article
  2. Identification of a novel c-DNA overexpressed in Fanconi's anemia fibroblasts partially homologous to a putative L-3-phosphoserine-phosphatase. Planitzer SA, et al. Gene, 1998 Apr 14. PMID 9573387
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deletion of PSPHL does not contribute to breast cancer in African American women.
    Title: PSPHL and breast cancer in African American women: causative gene or population stratification?
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

Other Names

  • L-3-phosphoserine-phosphatase homolog
  • testicular tissue protein Li 154

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_009001.3 

    Range
    101..8987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
    55764797..55773683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    55925055..55933941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_003832.1: Suppressed sequence

    Description
    NM_003832.1: This RefSeq was permanently suppressed because this locus is considered to be a pseudogene.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15172.1 GenPept UniProtKB/Swiss-Prot:O15172

Gene LinkOut

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