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PRR27 proline rich 27 [ Homo sapiens (human) ]

Gene ID: 401137, updated on 5-Mar-2024

Summary

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Official Symbol
PRR27provided by HGNC
Official Full Name
proline rich 27provided by HGNC
Primary source
HGNC:HGNC:33193
See related
Ensembl:ENSG00000187533 AllianceGenome:HGNC:33193
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
C4orf40
Summary
Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward salivary gland (RPKM 399.7) See more
Orthologs
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Genomic context

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Location:
4q13.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (70154237..70166609)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (73493513..73505908)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (71019954..71032326)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene casein alpha s2 like A, pseudogene Neighboring gene casein alpha s2 like B, pseudogene Neighboring gene uncharacterized LOC105377270 Neighboring gene odontogenic, ameloblast associated

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. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
  2. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article
  4. DNA cloning using in vitro site-specific recombination. Hartley JL, et al. Genome Res, 2000 Nov. PMID 11076863, Free PMC Article
  5. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). Gonzalez-Begne M, et al. J Proteome Res, 2009 Mar. PMID 19199708, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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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Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
proline-rich protein 27

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_214711.4 → NP_999876.2  proline-rich protein 27 precursor

    See identical proteins and their annotated locations for NP_999876.2

    Status: VALIDATED

    Source sequence(s)
    AC104811, BX485867, BX640892, BX647183, BX647185, BX648872, BX648896
    Consensus CDS
    CCDS3535.1
    UniProtKB/Swiss-Prot
    A8MXP0, Q6MZM9, Q6MZR6
    Related
    ENSP00000343172.5, ENST00000344526.10

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    70154237..70166609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_013171801.1 Reference GRCh38.p14 PATCHES

    Range
    198823..211195
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    73493513..73505908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6MZM9.1 GenPept UniProtKB/Swiss-Prot:Q6MZM9

Gene LinkOut

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

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