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PRR23D1 proline rich 23 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 100131608, updated on 17-Sep-2024

Summary

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Official Symbol
PRR23D1provided by HGNC
Official Full Name
proline rich 23 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:49420
See related
Ensembl:ENSG00000255251 AllianceGenome:HGNC:49420
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PRR23D2
Expression
Restricted expression toward testis (RPKM 1.0) See more
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Genomic context

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See PRR23D1 in Genome Data Viewer
Location:
8p23.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (7536679..7542450)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7256555..7262014)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (7397149..7399972)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377801 Neighboring gene proline-rich protein 23D1-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:7386403-7386942 Neighboring gene family with sequence similarity 90 member A6, pseudogene Neighboring gene family with sequence similarity 90 member A7

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. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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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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Homology

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-rich protein 23D1
Names
Proline-rich protein 23D2
proline-rich protein 23C-like

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_001282479.1 → NP_001269408.1  proline-rich protein 23D1

    See identical proteins and their annotated locations for NP_001269408.1

    Status: VALIDATED

    Source sequence(s)
    AC134684
    Consensus CDS
    CCDS64820.1
    UniProtKB/Swiss-Prot
    E9PI22, P0DMB1
    Related
    ENSP00000436891.1, ENST00000533250.2
    Conserved Domains (1) summary
    pfam10630
    Location:33 → 276
    DUF2476; Protein of unknown function (DUF2476)

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    7536679..7542450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534716.4 → XP_011533018.1  proline-rich protein 23D1 isoform X1

    See identical proteins and their annotated locations for XP_011533018.1

    UniProtKB/Swiss-Prot
    E9PI22, P0DMB1
    Conserved Domains (1) summary
    pfam10630
    Location:33 → 276
    DUF2476; Protein of unknown function (DUF2476)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    5375815..5378637 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187570.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    219782..225553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328713.1 → XP_054184688.1  proline-rich protein 23D1 isoform X1

    UniProtKB/Swiss-Prot
    E9PI22, P0DMB1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    7256555..7262014
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359515.1 → XP_054215490.1  proline-rich protein 23D1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
E9PI22.1 GenPept UniProtKB/Swiss-Prot:E9PI22

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