RAPH1

Protein-coding gene in the species Homo sapiens
RAPH1
Available structures
PDBHuman UniProt search: PDBe RCSB
List of PDB id codes

4GMV, 4GN1

Identifiers
AliasesRAPH1, ALS2CR18, ALS2CR9, LPD, PREL-2, PREL2, RMO1, RalGDS/AF-6, Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
External IDsOMIM: 609035; MGI: 1924550; HomoloGene: 71030; GeneCards: RAPH1; OMA:RAPH1 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for RAPH1
Genomic location for RAPH1
Band2q33.2Start203,394,345 bp[1]
End203,535,335 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for RAPH1
Genomic location for RAPH1
Band1|1 C2Start60,521,451 bp[2]
End60,606,263 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • pancreatic epithelial cell

  • tibia

  • pancreatic ductal cell

  • endothelial cell

  • synovial joint

  • synovial membrane

  • visceral pleura

  • skin of arm

  • cartilage tissue

  • pars reticulata
Top expressed in
  • otolith organ

  • utricle

  • body of femur

  • Rostral migratory stream

  • myocardium of ventricle

  • adrenal gland

  • superior cervical ganglion

  • substantia nigra

  • soleus muscle

  • left lung lobe
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
Cellular component
  • cytoplasm
  • filopodium
  • cell projection
  • cytoskeleton
  • cell leading edge
  • membrane
  • lamellipodium
  • cytosol
  • plasma membrane
  • nuclear body
Biological process
  • signal transduction
  • axon extension
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

65059

77300

Ensembl

ENSG00000173166

ENSMUSG00000026014

UniProt

Q70E73

n/a

RefSeq (mRNA)

NM_025252
NM_203365
NM_213589
NM_001329728

NM_001045513

RefSeq (protein)

NP_001316657
NP_976241
NP_998754

n/a

Location (UCSC)Chr 2: 203.39 – 203.54 MbChr 1: 60.52 – 60.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ras-associated and pleckstrin homology domains-containing protein 1 is a protein that in humans is encoded by the RAPH1 gene.[5]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000173166 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026014 – 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: RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1".

Further reading

  • Nagase T, Kikuno R, Hattori A, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (6): 347–55. doi:10.1093/dnares/7.6.347. PMID 11214970.
  • Hadano S, Hand CK, Osuga H, et al. (2001). "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2". Nat. Genet. 29 (2): 166–73. doi:10.1038/ng1001-166. PMID 11586298. S2CID 52828189.
  • Salazar MA, Kwiatkowski AV, Pellegrini L, et al. (2004). "Tuba, a novel protein containing bin/amphiphysin/Rvs and Dbl homology domains, links dynamin to regulation of the actin cytoskeleton". J. Biol. Chem. 278 (49): 49031–43. doi:10.1074/jbc.M308104200. PMID 14506234.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
  • Krause M, Leslie JD, Stewart M, et al. (2004). "Lamellipodin, an Ena/VASP ligand, is implicated in the regulation of lamellipodial dynamics". Dev. Cell. 7 (4): 571–83. doi:10.1016/j.devcel.2004.07.024. PMID 15469845.
  • Dahl E, Sadr-Nabavi A, Klopocki E, et al. (2005). "Systematic identification and molecular characterization of genes differentially expressed in breast and ovarian cancer". J. Pathol. 205 (1): 21–8. doi:10.1002/path.1687. PMID 15586368. S2CID 8336323.
  • Eppert K, Wunder JS, Aneliunas V, et al. (2005). "Altered expression and deletion of RMO1 in osteosarcoma". Int. J. Cancer. 114 (5): 738–46. doi:10.1002/ijc.20786. PMID 15609301. S2CID 23990601.
  • Jenzora A, Behrendt B, Small JV, et al. (2005). "PREL1 provides a link from Ras signalling to the actin cytoskeleton via Ena/VASP proteins". FEBS Lett. 579 (2): 455–63. doi:10.1016/j.febslet.2004.10.110. PMID 15642358. S2CID 25677449.
  • Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
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