REPS1

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)[1]
Chromosome 6 (human)
Genomic location for REPS1
Genomic location for REPS1
Band6q24.1Start138,903,493 bp[1]
End138,988,261 bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for REPS1
Genomic location for REPS1
Band10|10 A3Start17,931,609 bp[2]
End18,000,903 bp[2]
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
  • calcium ion binding
  • SH3 domain binding
  • protein binding
  • metal ion binding
Cellular component
  • membrane
  • plasma membrane
  • clathrin-coated pit
  • cytosol
Biological process
  • receptor-mediated endocytosis
  • membrane organization
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[3][4]
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.[5]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000135597 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019854 – Ensembl, 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

  • Cantor SB, Urano T, Feig LA (1995). "Identification and characterization of Ral-binding protein 1, a potential downstream target of Ral GTPases". Mol. Cell. Biol. 15 (8): 4578–84. doi:10.1128/mcb.15.8.4578. PMC 230698. PMID 7623849.
  • Yamaguchi A, Urano T, Goi T, Feig LA (1998). "An Eps homology (EH) domain protein that binds to the Ral-GTPase target, RalBP1". J. Biol. Chem. 272 (50): 31230–4. doi:10.1074/jbc.272.50.31230. PMID 9395447.
  • Ikeda M, Ishida O, Hinoi T, et al. (1998). "Identification and characterization of a novel protein interacting with Ral-binding protein 1, a putative effector protein of Ral". J. Biol. Chem. 273 (2): 814–21. doi:10.1074/jbc.273.2.814. PMID 9422736.
  • Xu J, Zhou Z, Zeng L, et al. (2002). "Cloning, expression and characterization of a novel human REPS1 gene". Biochim. Biophys. Acta. 1522 (2): 118–21. doi:10.1016/s0167-4781(01)00310-4. PMID 11750063.
  • Cullis DN, Philip B, Baleja JD, Feig LA (2003). "Rab11-FIP2, an adaptor protein connecting cellular components involved in internalization and recycling of epidermal growth factor receptors". J. Biol. Chem. 277 (51): 49158–66. doi:10.1074/jbc.M206316200. PMID 12364336.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Hu Y, Mivechi NF (2003). "HSF-1 interacts with Ral-binding protein 1 in a stress-responsive, multiprotein complex with HSP90 in vivo". J. Biol. Chem. 278 (19): 17299–306. doi:10.1074/jbc.M300788200. PMID 12621024.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
  • Drake KJ, Singhal J, Yadav S, et al. (2007). "RALBP1/RLIP76 mediates multidrug resistance". Int. J. Oncol. 30 (1): 139–44. doi:10.3892/ijo.30.1.139. PMID 17143522.
  • Singhal SS, Singhal J, Nair MP, et al. (2007). "Doxorubicin transport by RALBP1 and ABCG2 in lung and breast cancer". Int. J. Oncol. 30 (3): 717–25. doi:10.3892/ijo.30.3.717. PMID 17273774.
  • v
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  • e
  • 1fi6: SOLUTION STRUCTURE OF THE REPS1 EH DOMAIN
    1fi6: SOLUTION STRUCTURE OF THE REPS1 EH DOMAIN


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