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RIPPLY1 ripply transcriptional repressor 1 [ Homo sapiens (human) ]

Gene ID: 92129, updated on 1-Jun-2020

Summary

Official Symbol
RIPPLY1provided by HGNC
Official Full Name
ripply transcriptional repressor 1provided by HGNC
Primary source
HGNC:HGNC:25117
See related
Ensembl:ENSG00000147223 MIM:300575
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
Summary
This gene encodes a protein similar to a zebrafish protein which acts as a transcriptional repressor in and is required for somite segmentation in zebrafish embryos (PMID: 16326386). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Expression
Biased expression in liver (RPKM 2.2), kidney (RPKM 1.1) and 2 other tissues See more
Orthologs

Genomic context

See RIPPLY1 in Genome Data Viewer
Location:
Xq22.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (106900063..106903341, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (106143293..106146561, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ring finger protein 128 Neighboring gene TBC1 domain family member 8B Neighboring gene claudin 2 Neighboring gene MORC family CW-type zinc finger 4 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 40

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
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
NHGRI GWA Catalog

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
embryonic pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryonic pattern specification ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
somite rostral/caudal axis specification ISS
Inferred from Sequence or Structural Similarity
more info
 
somite specification ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
protein ripply1
Names
ripply1 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.

Genomic

  1. NG_022934.1 RefSeqGene

    Range
    4991..8269
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001171706.2NP_001165177.1  protein ripply1 isoform 2

    See identical proteins and their annotated locations for NP_001165177.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL591849, BC007652, BC105691, BX106639
    Consensus CDS
    CCDS55471.1
    UniProtKB/Swiss-Prot
    Q0D2K3
    Related
    ENSP00000400539.1, ENST00000411805.1
    Conserved Domains (1) summary
    pfam14998
    Location:5284
    Ripply; Transcription Regulator
  2. NM_138382.3NP_612391.1  protein ripply1 isoform 1

    See identical proteins and their annotated locations for NP_612391.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL591849, BC007652, BC105691
    Consensus CDS
    CCDS48145.1
    UniProtKB/Swiss-Prot
    Q0D2K3
    Related
    ENSP00000276173.4, ENST00000276173.5
    Conserved Domains (1) summary
    pfam14998
    Location:56131
    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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    106900063..106903341 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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