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RIPPLY3 ripply transcriptional repressor 3 [ Homo sapiens (human) ]

Gene ID: 53820, updated on 7-Jun-2020

Summary

Official Symbol
RIPPLY3provided by HGNC
Official Full Name
ripply transcriptional repressor 3provided by HGNC
Primary source
HGNC:HGNC:3047
See related
Ensembl:ENSG00000183145 MIM:609892
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
DSCR6
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See RIPPLY3 in Genome Data Viewer
Location:
21q22.13
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (37006150..37019662)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38378456..38391959)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene holocarboxylase synthetase Neighboring gene divergent-paired related homeobox pseudogene 5 Neighboring gene mitochondrial ribosomal protein L20 pseudogene 1 Neighboring gene RNA, U6 small nuclear 696, pseudogene Neighboring gene phosphatidylinositol glycan anchor biosynthesis class P

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
embryonic pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pharyngeal system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
protein ripply3
Names
Down syndrome critical region gene 6
down syndrome critical region protein 6
ripply3 homolog

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_001317768.1NP_001304697.1  protein ripply3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR which results in the use of a downstream start codon compared to variant 1. The enocoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AB037159, AP000704
    UniProtKB/Swiss-Prot
    P57055
    Related
    ENST00000485272.5
    Conserved Domains (1) summary
    pfam14998
    Location:133
    Ripply; Transcription Regulator
  2. NM_001317777.1NP_001304706.1  protein ripply3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate exon and lacks an exon in it's 5' UTR which results in the use of a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2)
    Source sequence(s)
    AB037160, AP000704
    UniProtKB/Swiss-Prot
    P57055
    Related
    ENST00000490393.1
    Conserved Domains (1) summary
    pfam14998
    Location:133
    Ripply; Transcription Regulator
  3. NM_018962.3NP_061835.1  protein ripply3 isoform 1

    See identical proteins and their annotated locations for NP_061835.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB037158, AP000704
    Consensus CDS
    CCDS13648.1
    UniProtKB/Swiss-Prot
    P57055
    Related
    ENSP00000331734.2, ENST00000329553.3
    Conserved Domains (1) summary
    pfam14998
    Location:38117
    Ripply; Transcription Regulator

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_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    37006150..37019662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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