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RPTN repetin [ Homo sapiens (human) ]

Gene ID: 126638, updated on 24-Nov-2020

Summary

Official Symbol
RPTNprovided by HGNC
Official Full Name
repetinprovided by HGNC
Primary source
HGNC:HGNC:26809
See related
Ensembl:ENSG00000215853 MIM:613259
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
Expression
Restricted expression toward skin (RPKM 15.3) See more
Orthologs

Genomic context

See RPTN in Genome Data Viewer
Location:
1q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (152153595..152159228, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152126071..152131704, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene trichohyalin Neighboring gene pseudouridine 5'-phosphatase pseudogene 2 Neighboring gene uncharacterized LOC112268240 Neighboring gene hornerin

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

Bibliography

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of repetin (RPTN) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39117

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
transition metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cornified envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cornified envelope TAS
Traceable Author Statement
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
repetin
Names
intermediate filament-associated protein

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_001122965.1NP_001116437.1  repetin

    See identical proteins and their annotated locations for NP_001116437.1

    Status: VALIDATED

    Source sequence(s)
    AY396742
    Consensus CDS
    CCDS41397.1
    UniProtKB/Swiss-Prot
    Q6XPR3
    Related
    ENSP00000317895.3, ENST00000316073.3
    Conserved Domains (2) summary
    cd00213
    Location:389
    S-100; S-100: S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 ...
    pfam13499
    Location:1375
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    152153595..152159228 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152364.1: Suppressed sequence

    Description
    NM_152364.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
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