RALGAPA1
entrez
253959
canonical
uniprot
Q6GYQ0
canonical
ensembl
ENSG00000174373
resolver
ensp
ENSP00000302647
resolver
ensp
ENSP00000371803
resolver
ensp
ENSP00000374348
resolver
ensp
ENSP00000451133
resolver
ensp
ENSP00000451877
resolver
ensp
ENSP00000490119
resolver
ensp
ENSP00000506280
resolver
enst
ENST00000554259
resolver
enst
ENST00000637992
resolver
enst
ENST00000680220
resolver
genesymbol
RALGAPA1
resolver
genesymbol_syn
GARNL1
resolver
genesymbol_syn
KIAA0884
resolver
genesymbol_syn
TULIP1
resolver
hgnc
HGNC:17770
resolver
uniprot
A0A1B0GUI1
resolver
uniprot
A0A7P0TAR5
resolver
uniprot
A6NMA4
resolver
uniprot
B9EK38
resolver
uniprot
C5NU19
resolver
uniprot
H0YJB5
resolver
uniprot
O94960
resolver
uniprot
Q6GYP9
resolver
uniprot
Q6ZT23
resolver
uniprot
Q86YF3
resolver
uniprot
Q86YF5
resolver
uniprot
Q8ND69
resolver
uniprot_entry
A0A1B0GUI1_HUMAN
resolver
uniprot_entry
A0A7P0TAR5_HUMAN
resolver
uniprot_entry
H0YJB5_HUMAN
resolver
uniprot_entry
RGPA1_HUMAN
resolver
uniprot_sec
A6NMA4
resolver
uniprot_sec
B9EK38
resolver
uniprot_sec
C5NU19
resolver
uniprot_sec
O94960
resolver
uniprot_sec
Q6GYP9
resolver
uniprot_sec
Q6ZT23
resolver
uniprot_sec
Q86YF3
resolver
uniprot_sec
Q86YF5
resolver
uniprot_sec
Q8ND69
resolver
amino_acid_sequence
MFSKKPHGDVKKSTQKVLDTKKDALTRLKHLRIVIENAESIDLKQFFDQHFSHIYYVFFENFVTIEASLKQKGHKSQREELDAILFIFEKILQLLPERIHQRWQFHSIGLILKKLLHTGNSLKIRREGVRLFLLWLQALQNNCSKEQLWMFSCLIPGFSAPQSEHGPRTLDNLINPPLNLQETQVTIEEITPLVPPQSGDKGQEDLTSYFLEALLKYIVIQVKSLEWKNKENQERGFSFLFSHFKKYYLPYIFPNICKENSLYHPILDIPQMRPKPHYVVIKKDAETNEAIYCTKEPFIKARVIVIRWLVSFWLEPKPHTGPHIPGMEGEVLPKNIQRAAASLVSREESKNDNADKTDRTTEPEQSHSNTSTLTEREPSSSSLCSIDEEHLTDIEIVRRVFSSKRSNVNFVTEIFRQAFLLPICEAAAMRKVVKVYQEWIQQEEKPLFMQEPEEIVITSSDLPCIENVTDHDISMEEGEKREEENGTNTADHVRNSSWAKNGSYQGALHNASEEATEQNIRAGTQAVLQVFIINSSNIFLLEPANEIKNLLDEHTDMCKRILNIYRYMVVQVSMDKKTWEQMLLVLLRVTESVLKMPSQAFLQFQGKKNMTLAGRLAGPLFQTLIVAWIKANLNVYISRELWDDLLSVLSSLTYWEELATEWSLTMETLTKVLARNLYSLDLSDLPLDKLSEQKQKKHKGKGVGHEFQKVSVDKSFSRGWSRDQPGQAPMRQRSATTTGSPGTEKARSIVRQKTVDIDDAQILPRSTRVRHFSQSEETGNEVFGALNEEQPLPRSSSTSDILEPFTVERAKVNKEDMSQKLPPLNSDIGGSSANVPDLMDEFIAERLRSGNASTMTRRGSSPGSLEIPKDLPDILNKQNQMRPIDDPGVPSEWTSPASAGSSDLISSDSHSDSFSAFQYDGRKFDNFGFGTDTGVTSSADVDSGSGHHQSAEEQEVASLTTLHIDSETSSLNQQAFSAEVATITGSESASPVHSPLGSRSQTPSPSTLNIDHMEQKDLQLDEKLHHSVLQTPDDLEISEFPSECCSVMAGGTLTGWHADVATVMWRRMLGILGDVNSIMDPEIHAQVFDYLCELWQNLAKIRDNLGISTDNLTSPSPPVLIPPLRILTPWLFKATMLTDKYKQGKLHAYKLICNTMKRRQDVSPNRDFLTHFYNIMHCGLLHIDQDIVNTIIKHCSPQFFSLGLPGATMLIMDFIVAAGRVASSAFLNAPRVEAQVLLGSLVCFPNLYCELPSLHPNIPDVAVSQFTDVKELIIKTVLSSARDEPSGPARCVALCSLGIWICEELVHESHHPQIKEALNVICVSLKFTNKTVAHVACNMLHMLVHYVPRLQIYQPDSPLKIIQILIATITHLLPSTEASSYEMDKRLVVSLLLCLLDWIMALPLKTLLQPFHATGAESDKTEKSVLNCIYKVLHGCVYGAQCFSNPRYFPMSLSDLASVDYDPFMHLESLKEPEPLHSPDSERSSKLQPVTEVKTQMQHGLISIAARTVITHLVNHLGHYPMSGGPAMLTSQVCENHDNHYSESTELSPELFESPNIQFFVLNNTTLVSCIQIRSEENMPGGGLSAGLASANSNVRIIVRDLSGKYSWDSAILYGPPPVSGLSEPTSFMLSLSHQEKPEEPPTSNECLEDITVKDGLSLQFKRFRETVPTWDTIRDEEDVLDELLQYLGVTSPECLQRTGISLNIPAPQPVCISEKQENDVINAILKQHTEEKEFVEKHFNDLNMKAVEQDEPIPQKPQSAFYYCRLLLSILGMNSWDKRRSFHLLKKNEKLLRELRNLDSRQCRETHKIAVFYVAEGQEDKHSILTNTGGSQAYEDFVAGLGWEVNLTNHCGFMGGLQKNKSTGLTTPYFATSTVEVIFHVSTRMPSDSDDSLTKKLRHLGNDEVHIVWSEHTRDYRRGIIPTEFGDVLIVIYPMKNHMFSIQIMKKPEVPFFGPLFDGAIVNGKVLPIMVRATAINASRALKSLIPLYQNFYEERARYLQTIVQHHLEPTTFEDFAAQVFSPAPYHHLPSDADH
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT) [MIM:618797]: An autosomal recessive disorder characterized by profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, infantile spasms, and moderate dysmorphic facial features. Brain imaging shows thin corpus or dysplastic corpus callosum, and additional unspecific abnormalities including gray matter heterotopias, ectopic posterior pituitary, signal abnormalities in basal ganglia, and stratum subependymale. {ECO:0000269|PubMed:32004447}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB. {ECO:0000250}.
uniprot
proteins
mass_dalton
229832
uniprot
proteins
mutagenesis
MUTAGEN 1903; /note="N->K: Has no effect on interaction with RALGAPB but causes loss of activity."; /evidence="ECO:0000269|PubMed:19520869
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498464
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19520869
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
32004447
uniprot
proteins
sequence_length
2036
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Translocated to the nucleus, when associated with TCF3/E12. {ECO:0000250}.
uniprot
proteins