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

Gene ID: 80209, updated on 6-Jun-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (39009865..39038089, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (38229508..38257732, complement)
105.20220307 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
  • 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 DNA sequence and analysis of human chromosome 13. Dunham A, et al. Nature, 2004 Apr 1. PMID 15057823, Free PMC Article

See all (24) 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_2023_10

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

    UniProtKB/TrEMBL
    B7Z607

  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

    UniProtKB/TrEMBL
    B7Z607

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

    UniProtKB/TrEMBL
    B7Z607
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86XN7.2 GenPept UniProtKB/Swiss-Prot:Q86XN7

Gene LinkOut

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