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    PROSER1 proline and serine rich 1 [ Homo sapiens (human) ]

    Gene ID: 80209, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PROSER1provided by HGNC
    Official Full Name
    proline and serine rich 1provided by HGNC
    Primary source
    HGNC:HGNC:20291
    See related
    Ensembl:ENSG00000120685 MIM:620773; AllianceGenome:HGNC:20291
    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
    C13orf23
    Summary
    This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]
    Expression
    Ubiquitous expression in placenta (RPKM 12.5), bone marrow (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PROSER1 in Genome Data Viewer
    Location:
    13q13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (39009865..39038089, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (38229508..38257732, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (39584002..39612226, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 26 pseudogene 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:39495093-39496292 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32865 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:39527838-39528010 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32869 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32870 Neighboring gene stomatin like 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:39580698-39581306 Neighboring gene Sharpr-MPRA regulatory region 13170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5275 Neighboring gene uncharacterized LOC105370169 Neighboring gene NHL repeat containing 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. An SNP linkage scan identifies significant Crohn's disease loci on chromosomes 13q13.3 and, in Jewish families, on 1p35.2 and 3q29. Shugart YY, et al. Genes Immun, 2008 Mar. PMID 18246054, Free PMC Article
    2. PROSER1 mediates TET2 O-GlcNAcylation to regulate DNA demethylation on UTX-dependent enhancers and CpG islands. Wang X, et al. Life Sci Alliance, 2022 Jan. PMID 34667079, Free PMC Article
    3. Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination. Lee MG, et al. Science, 2007 Oct 19. PMID 17761849
    4. C16orf72/HAPSTR1 is a molecular rheostat in an integrated network of stress response pathways. Amici DR, et al. Proc Natl Acad Sci U S A, 2022 Jul 5. PMID 35776542, Free PMC Article
    5. The Eyes Absent family members EYA4 and EYA1 promote PLK1 activation and successful mitosis through tyrosine dephosphorylation. Nelson CB, et al. Nat Commun, 2024 Feb 15. PMID 38360978, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PROSER1 mediates TET2 O-GlcNAcylation to regulate DNA demethylation on UTX-dependent enhancers and CpG islands.
      Title: PROSER1 mediates TET2 O-GlcNAcylation to regulate DNA demethylation on UTX-dependent enhancers and CpG islands.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Genomic regions have been identified demonstrating significant evidence for single nucleotide polymorphism linkage to Crohn's disease on chromosomes 16q12.1 and 13q13.3, and suggestive evidence for linkage to ulcerative colitis on chromosome 19p12.
      Title: An SNP linkage scan identifies significant Crohn's disease loci on chromosomes 13q13.3 and, in Jewish families, on 1p35.2 and 3q29.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12661, FLJ23780

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    proline and serine-rich protein 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.

    mRNA and Protein(s)

    1. NM_025138.5 → NP_079414.3  proline and serine-rich protein 1 isoform 1

      See identical proteins and their annotated locations for NP_079414.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB107354, AL445590, AW294041, BC064348
      Consensus CDS
      CCDS9368.2
      UniProtKB/Swiss-Prot
      A6NJ97, Q6P2S2, Q7Z3X5, Q86XN7, Q8N3D2, Q8N3P1, Q9H9M1
      UniProtKB/TrEMBL
      B7Z607
      Related
      ENSP00000332034.4, ENST00000352251.8
      Conserved Domains (1) summary
      pfam14771
      Location:33 → 121
      DUF4476; Domain of unknown function (DUF4476)

    2. NM_170719.4 → NP_733837.2  proline and serine-rich protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL445590
      Consensus CDS
      CCDS45041.1
      UniProtKB/TrEMBL
      B7Z607
      Related
      ENSP00000486159.1, ENST00000625998.2
      Conserved Domains (2) summary
      pfam14771
      Location:12 → 99
      DUF4476; Domain of unknown function (DUF4476)
      cl26464
      Location:515 → 917
      Atrophin-1; Atrophin-1 family

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      39009865..39038089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430652.1 → XP_047286608.1  proline and serine-rich protein 1 isoform X2

    2. XM_011535239.4 → XP_011533541.1  proline and serine-rich protein 1 isoform X1

      UniProtKB/TrEMBL
      B7Z607
      Conserved Domains (1) summary
      pfam14771
      Location:33 → 121
      DUF4476; Domain of unknown function (DUF4476)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      38229508..38257732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375006.1 → XP_054230981.1  proline and serine-rich protein 1 isoform X2

    2. XM_054375005.1 → XP_054230980.1  proline and serine-rich protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XN7.2 GenPept UniProtKB/Swiss-Prot:Q86XN7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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