GARNL1

Protein-coding gene in the species Homo sapiens
RALGAPA1
Identifiers
AliasesRALGAPA1, GARNL1, GRIPE, RalGAPalpha1, TULIP1, p240, Ral GTPase activating protein catalytic alpha subunit 1, Ral GTPase activating protein catalytic subunit alpha 1, NEDHRIT
External IDsOMIM: 608884; MGI: 1931050; HomoloGene: 84805; GeneCards: RALGAPA1; OMA:RALGAPA1 - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for RALGAPA1
Genomic location for RALGAPA1
Band14q13.2Start35,538,352 bp[1]
End35,809,304 bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for RALGAPA1
Genomic location for RALGAPA1
Band12|12 C1Start55,602,896 bp[2]
End55,821,167 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • Achilles tendon

  • corpus callosum

  • lateral nuclear group of thalamus

  • sural nerve

  • inferior olivary nucleus

  • dorsal motor nucleus of vagus nerve

  • Pars compacta

  • Epithelium of choroid plexus

  • external globus pallidus
Top expressed in
  • ascending aorta

  • visual cortex

  • primary visual cortex

  • aortic valve

  • superior frontal gyrus

  • cerebellar cortex

  • primary motor cortex

  • granulocyte

  • medial dorsal nucleus

  • mammillary body
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • GTPase activator activity
  • protein heterodimerization activity
Cellular component
  • cytoplasm
  • nucleus
Biological process
  • regulation of small GTPase mediated signal transduction
  • activation of GTPase activity
  • positive regulation of GTPase activity
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

253959

56784

Ensembl

ENSG00000174373

ENSMUSG00000021027

UniProt

Q6GYQ0

Q6GYP7

RefSeq (mRNA)
NM_001283043
NM_001283044
NM_014990
NM_194301
NM_001330075

NM_001346243
NM_001346245
NM_001346246
NM_001346247
NM_001346248
NM_001346249

NM_001003719
NM_001112714
NM_001286263
NM_019994
NM_001368814

RefSeq (protein)
NP_001269972
NP_001269973
NP_001317004
NP_001333172
NP_001333174

NP_001333175
NP_001333176
NP_001333177
NP_001333178
NP_055805
NP_919277

NP_001003719
NP_001106185
NP_001273192
NP_064378
NP_001355743

Location (UCSC)Chr 14: 35.54 – 35.81 MbChr 12: 55.6 – 55.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

GTPase-activating Rap/Ran-GAP domain-like 1 is an enzyme that in humans is encoded by the RALGAPA1 gene.[5][6]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000174373 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021027 – 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. ^ Shirakawa R, Fukai S, Kawato M, Higashi T, Kondo H, Ikeda T, Nakayama E, Okawa K, Nureki O, Kimura T, Kita T, Horiuchi H (Aug 2009). "Tuberous Sclerosis Tumor Suppressor Complex-like Complexes Act as GTPase-activating Proteins for Ral GTPases". J Biol Chem. 284 (32): 21580–8. doi:10.1074/jbc.M109.012112. PMC 2755882. PMID 19520869.
  6. ^ "Entrez Gene: GARNL1 GTPase activating Rap/RanGAP domain-like 1".

Further reading

  • Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485.
  • Heng JI, Tan SS (2003). "Cloning and characterization of GRIPE, a novel interacting partner of the transcription factor E12 in developing mouse forebrain". J. Biol. Chem. 277 (45): 43152–9. doi:10.1074/jbc.M204858200. PMID 12200424.
  • 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.
  • 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.
  • Swaminathan S, Kiendl F, Körner R, et al. (2004). "RanGAP1*SUMO1 is phosphorylated at the onset of mitosis and remains associated with RanBP2 upon NPC disassembly". J. Cell Biol. 164 (7): 965–71. doi:10.1083/jcb.200309126. PMC 2172064. PMID 15037602.
  • Fortna A, Kim Y, MacLaren E, et al. (2006). "Lineage-Specific Gene Duplication and Loss in Human and Great Ape Evolution". PLOS Biol. 2 (7): E207. doi:10.1371/journal.pbio.0020207. PMC 449870. PMID 15252450.
  • 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.
  • Schwarzbraun T, Vincent JB, Schumacher A, et al. (2005). "Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue". Genomics. 84 (3): 577–86. doi:10.1016/j.ygeno.2004.04.013. PMID 15498464.
  • Schmid EM, Ford MG, Burtey A, et al. (2007). "Role of the AP2 β-Appendage Hub in Recruiting Partners for Clathrin-Coated Vesicle Assembly". PLOS Biol. 4 (9): e262. doi:10.1371/journal.pbio.0040262. PMC 1540706. PMID 16903783.


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