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PRR16 proline rich 16 [ Homo sapiens (human) ]

Gene ID: 51334, updated on 1-Jun-2020

Summary

Official Symbol
PRR16provided by HGNC
Official Full Name
proline rich 16provided by HGNC
Primary source
HGNC:HGNC:29654
See related
Ensembl:ENSG00000184838 MIM:615931
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
DSC54; LARGEN
Expression
Broad expression in endometrium (RPKM 1.3), urinary bladder (RPKM 0.9) and 21 other tissues See more
Orthologs

Genomic context

See PRR16 in Genome Data Viewer
Location:
5q23.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (120464222..120794587)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (119799973..120023009)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379144 Neighboring gene RNA, U6 small nuclear 718, pseudogene Neighboring gene PRELI domain containing 3B pseudogene 8 Neighboring gene RNA, U4 small nuclear 69, pseudogene Neighboring gene uncharacterized LOC105379147 Neighboring gene uncharacterized LOC102467226

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
NHGRI GWA Catalog
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104614

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of cell size IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of translation IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein Largen
Names
mesenchymal stem cell protein DSC54
proline-rich protein 16

NCBI Reference Sequences (RefSeq)

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_001300783.2NP_001287712.1  protein Largen isoform 1

    See identical proteins and their annotated locations for NP_001287712.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC093301, AC113418
    Consensus CDS
    CCDS75290.1
    UniProtKB/Swiss-Prot
    Q569H4
    Related
    ENSP00000385118.2, ENST00000407149.7
    Conserved Domains (1) summary
    pfam15252
    Location:53304
    DUF4589; Domain of unknown function (DUF4589)
  2. NM_001308087.1NP_001295016.1  protein Largen isoform 3

    See identical proteins and their annotated locations for NP_001295016.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1. Both variants 3 and 4 encode isoform 3.
    Source sequence(s)
    AF242769, AI572206, DA328660
    Consensus CDS
    CCDS78053.1
    UniProtKB/Swiss-Prot
    Q569H4
    Conserved Domains (1) summary
    pfam15252
    Location:1234
    DUF4589; Domain of unknown function (DUF4589)
  3. NM_001308088.1NP_001295017.1  protein Largen isoform 3

    See identical proteins and their annotated locations for NP_001295017.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains alternate 5' exon structure, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1. Both variants 3 and 4 encode isoform 3.
    Source sequence(s)
    AF242769, AI572206, BM728431
    Consensus CDS
    CCDS78053.1
    UniProtKB/Swiss-Prot
    Q569H4
    Related
    ENSP00000423446.1, ENST00000505123.5
    Conserved Domains (1) summary
    pfam15252
    Location:1234
    DUF4589; Domain of unknown function (DUF4589)
  4. NM_016644.2NP_057728.1  protein Largen isoform 2

    See identical proteins and their annotated locations for NP_057728.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an additional exon in the 5' region, and it thus differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF242769, AI572206, BC092474
    Consensus CDS
    CCDS4127.1
    UniProtKB/Swiss-Prot
    Q569H4
    Related
    ENSP00000368869.2, ENST00000379551.2
    Conserved Domains (1) summary
    pfam15252
    Location:31281
    DUF4589; Domain of unknown function (DUF4589)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    120464222..120794587
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543453.3XP_011541755.1  protein Largen isoform X1

    See identical proteins and their annotated locations for XP_011541755.1

    Conserved Domains (1) summary
    pfam15252
    Location:5255
    DUF4589; Domain of unknown function (DUF4589)
  2. XM_011543454.2XP_011541756.1  protein Largen isoform X2

    See identical proteins and their annotated locations for XP_011541756.1

    UniProtKB/Swiss-Prot
    Q569H4
    Conserved Domains (1) summary
    pfam15252
    Location:1234
    DUF4589; Domain of unknown function (DUF4589)
  3. XM_011543452.2XP_011541754.1  protein Largen isoform X1

    See identical proteins and their annotated locations for XP_011541754.1

    Conserved Domains (1) summary
    pfam15252
    Location:5255
    DUF4589; Domain of unknown function (DUF4589)

RNA

  1. XR_001742093.1 RNA Sequence

  2. XR_001742094.1 RNA Sequence

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