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REPS1

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Protein-coding gene in the species Homo sapiens
REPS1
Identifiers
AliasesREPS1, RALBP1, RALBP1 associated Eps domain containing 1, NBIA7
External IDsOMIM: 614825; MGI: 1196373; HomoloGene: 7515; GeneCards: REPS1; OMA:REPS1 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)
Chromosome 6 (human)Genomic location for REPS1Genomic location for REPS1
Band6q24.1Start138,903,493 bp
End138,988,261 bp
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)
Chromosome 10 (mouse)Genomic location for REPS1Genomic location for REPS1
Band10|10 A3Start17,931,609 bp
End18,000,903 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ventricular zone

  • right uterine tube

  • parotid gland

  • olfactory zone of nasal mucosa

  • anterior pituitary

  • ganglionic eminence

  • right hemisphere of cerebellum

  • Brodmann area 9

  • skin of abdomen

  • right frontal lobe
Top expressed in
  • genital tubercle

  • tail of embryo

  • secondary oocyte

  • zygote

  • submandibular gland

  • spermatocyte

  • gastrula

  • primary oocyte

  • Rostral migratory stream

  • seminal vesicula
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

85021

19707

Ensembl

ENSG00000135597

ENSMUSG00000019854

UniProt

Q96D71

O54916

RefSeq (mRNA)

NM_001128617
NM_001286611
NM_001286612
NM_031922

NM_001111065
NM_009048

RefSeq (protein)

NP_001122089
NP_001273540
NP_001273541
NP_114128

NP_001104535
NP_033074

Location (UCSC)Chr 6: 138.9 – 138.99 MbChr 10: 17.93 – 18 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

RalBP1-associated Eps domain-containing protein 1 is a protein that in humans is encoded by the REPS1 gene.


References

  1. ^ GRCh38: Ensembl release 89: ENSG00000135597Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000019854Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: REPS1 RALBP1 associated Eps domain containing 1".

Further reading

PDB gallery
  • 1fi6: SOLUTION STRUCTURE OF THE REPS1 EH DOMAIN 1fi6: SOLUTION STRUCTURE OF THE REPS1 EH DOMAIN


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