Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	253959
Gene name	Ral GTPase activating protein catalytic subunit alpha 1
Gene symbol	RALGAPA1
Synonyms (NCBI Gene)	GARNL1GRIPENEDHRITRalGAPalpha1TULIP1p240
Chromosome	14
Chromosome location	14q13.2
Summary	This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 prot

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1594642302	G>C	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1594878619	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1595085511	T>C	Pathogenic	Missense variant, coding sequence variant
rs1595416752	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1595446167	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant

110

Show/Hide all (110)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051044	hsa-miR-17-5p	CLASH	23622248
MIRT051044	hsa-miR-17-5p	CLASH	23622248
MIRT662443	hsa-miR-4282	HITS-CLIP	23824327
MIRT662442	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT662441	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT662440	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT662439	hsa-miR-1248	HITS-CLIP	23824327
MIRT662438	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT662437	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT662436	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT662435	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT662434	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT662433	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT662432	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT662431	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT662443	hsa-miR-4282	HITS-CLIP	23824327
MIRT662442	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT662441	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT662440	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT662439	hsa-miR-1248	HITS-CLIP	23824327
MIRT662438	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT662437	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT662436	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT662435	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT662434	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT662433	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT662432	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT662431	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT1288844	hsa-miR-1202	CLIP-seq
MIRT1288845	hsa-miR-1272	CLIP-seq
MIRT1288846	hsa-miR-128	CLIP-seq
MIRT1288847	hsa-miR-1322	CLIP-seq
MIRT1288848	hsa-miR-183	CLIP-seq
MIRT1288849	hsa-miR-24	CLIP-seq
MIRT1288850	hsa-miR-27a	CLIP-seq
MIRT1288851	hsa-miR-27b	CLIP-seq
MIRT1288852	hsa-miR-3166	CLIP-seq
MIRT1288853	hsa-miR-3171	CLIP-seq
MIRT1288854	hsa-miR-3672	CLIP-seq
MIRT1288855	hsa-miR-3941	CLIP-seq
MIRT1288856	hsa-miR-3972	CLIP-seq
MIRT1288857	hsa-miR-4284	CLIP-seq
MIRT1288858	hsa-miR-4493	CLIP-seq
MIRT1288859	hsa-miR-4643	CLIP-seq
MIRT1288860	hsa-miR-466	CLIP-seq
MIRT1288861	hsa-miR-4672	CLIP-seq
MIRT1288862	hsa-miR-4699-3p	CLIP-seq
MIRT1288863	hsa-miR-4700-3p	CLIP-seq
MIRT1288864	hsa-miR-4766-5p	CLIP-seq
MIRT1288865	hsa-miR-4776-3p	CLIP-seq
MIRT1288866	hsa-miR-4789-3p	CLIP-seq
MIRT1288867	hsa-miR-488	CLIP-seq
MIRT1288868	hsa-miR-494	CLIP-seq
MIRT2085633	hsa-miR-3907	CLIP-seq
MIRT1288859	hsa-miR-4643	CLIP-seq
MIRT1288860	hsa-miR-466	CLIP-seq
MIRT1288866	hsa-miR-4789-3p	CLIP-seq
MIRT2085634	hsa-miR-577	CLIP-seq
MIRT2085635	hsa-miR-1	CLIP-seq
MIRT1288844	hsa-miR-1202	CLIP-seq
MIRT1288845	hsa-miR-1272	CLIP-seq
MIRT1288847	hsa-miR-1322	CLIP-seq
MIRT2085636	hsa-miR-206	CLIP-seq
MIRT1288853	hsa-miR-3171	CLIP-seq
MIRT2085637	hsa-miR-3673	CLIP-seq
MIRT1288856	hsa-miR-3972	CLIP-seq
MIRT1288865	hsa-miR-4776-3p	CLIP-seq
MIRT2085638	hsa-miR-4777-5p	CLIP-seq
MIRT2085639	hsa-miR-518d-5p	CLIP-seq
MIRT2085640	hsa-miR-519b-5p	CLIP-seq
MIRT2085641	hsa-miR-519c-5p	CLIP-seq
MIRT2085642	hsa-miR-520c-5p	CLIP-seq
MIRT2085643	hsa-miR-526a	CLIP-seq
MIRT2085644	hsa-miR-613	CLIP-seq
MIRT2085635	hsa-miR-1	CLIP-seq
MIRT1288844	hsa-miR-1202	CLIP-seq
MIRT1288845	hsa-miR-1272	CLIP-seq
MIRT1288847	hsa-miR-1322	CLIP-seq
MIRT2310908	hsa-miR-15a	CLIP-seq
MIRT2310909	hsa-miR-15b	CLIP-seq
MIRT2310910	hsa-miR-16	CLIP-seq
MIRT1288848	hsa-miR-183	CLIP-seq
MIRT2310911	hsa-miR-195	CLIP-seq
MIRT2085636	hsa-miR-206	CLIP-seq
MIRT1288853	hsa-miR-3171	CLIP-seq
MIRT2085637	hsa-miR-3673	CLIP-seq
MIRT2310912	hsa-miR-3682-5p	CLIP-seq
MIRT2310913	hsa-miR-371b-5p	CLIP-seq
MIRT1288856	hsa-miR-3972	CLIP-seq
MIRT2310914	hsa-miR-424	CLIP-seq
MIRT2310915	hsa-miR-4524	CLIP-seq
MIRT1288865	hsa-miR-4776-3p	CLIP-seq
MIRT2085638	hsa-miR-4777-5p	CLIP-seq
MIRT2310916	hsa-miR-497	CLIP-seq
MIRT2310917	hsa-miR-503	CLIP-seq
MIRT2085639	hsa-miR-518d-5p	CLIP-seq
MIRT2085640	hsa-miR-519b-5p	CLIP-seq
MIRT2085641	hsa-miR-519c-5p	CLIP-seq
MIRT2085642	hsa-miR-520c-5p	CLIP-seq
MIRT2085643	hsa-miR-526a	CLIP-seq
MIRT2085644	hsa-miR-613	CLIP-seq
MIRT2310918	hsa-miR-646	CLIP-seq
MIRT2607414	hsa-miR-200b	CLIP-seq
MIRT2607415	hsa-miR-200c	CLIP-seq
MIRT2607416	hsa-miR-3122	CLIP-seq
MIRT2607417	hsa-miR-3185	CLIP-seq
MIRT2607418	hsa-miR-3913-5p	CLIP-seq
MIRT2607419	hsa-miR-429	CLIP-seq
MIRT2607420	hsa-miR-4424	CLIP-seq
MIRT2607421	hsa-miR-4747-5p	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0046982	Function	Protein heterodimerization activity	IPI	19520869
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0090630	Process	Activation of GTPase activity	ISS

MIM	HGNC	e!Ensembl
608884	17770	ENSG00000174373

Q6GYQ0

Protein name

Ral GTPase-activating protein subunit alpha-1 (GAP-related-interacting partner to E12) (GRIPE) (GTPase-activating Rap/Ran-GAP domain-like 1) (Tuberin-like protein 1) (p240)

Protein function

Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02145	Rap_GAP	1825 → 2002	Rap/ran-GAP	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15498464}.

Sequence

MFSKKPHGDVKKSTQKVLDTKKDALTRLKHLRIVIENAESIDLKQFFDQHFSHIYYVFFE
NFVTIEASLKQKGHKSQREELDAILFIFEKILQLLPERIHQRWQFHSIGLILKKLLHTGN
SLKIRREGVRLFLLWLQALQNNCSKEQLWMFSCLIPGFSAPQSEHGPRTLDNLINPPLNL
QETQVTIEEITPLVPPQSGDKGQEDLTSYFLEALLKYIVIQVKSLEWKNKENQERGFSFL
FSHFKKYYLPYIFPNICKENSLYHPILDIPQMRPKPHYVVIKKDAETNEAIYCTKEPFIK
ARVIVIRWLVSFWLEPKPHTGPHIPGMEGEVLPKNIQRAAASLVSREESKNDNADKTDRT
TEPEQSHSNTSTLTEREPSSSSLCSIDEEHLTDIEIVRRVFSSKRSNVNFVTEIFRQAFL
LPICEAAAMRKVVKVYQEWIQQEEKPLFMQEPEEIVITSSDLPCIENVTDHDISMEEGEK
REEENGTNTADHVRNSSWAKNGSYQGALHNASEEATEQNIRAGTQAVLQVFIINSSNIFL
LEPANEIKNLLDEHTDMCKRILNIYRYMVVQVSMDKKTWEQMLLVLLRVTESVLKMPSQA
FLQFQGKKNMTLAGRLAGPLFQTLIVAWIKANLNVYISRELWDDLLSVLSSLTYWEELAT
EWSLTMETLTKVLARNLYSLDLSDLPLDKLSEQKQKKHKGKGVGHEFQKVSVDKSFSRGW
SRDQPGQAPMRQRSATTTGSPGTEKARSIVRQKTVDIDDAQILPRSTRVRHFSQSEETGN
EVFGALNEEQPLPRSSSTSDILEPFTVERAKVNKEDMSQKLPPLNSDIGGSSANVPDLMD
EFIAERLRSGNASTMTRRGSSPGSLEIPKDLPDILNKQNQMRPIDDPGVPSEWTSPASAG
SSDLISSDSHSDSFSAFQYDGRKFDNFGFGTDTGVTSSADVDSGSGHHQSAEEQEVASLT
TLHIDSETSSLNQQAFSAEVATITGSESASPVHSPLGSRSQTPSPSTLNIDHMEQKDLQL
DEKLHHSVLQTPDDLEISEFPSECCSVMAGGTLTGWHADVATVMWRRMLGILGDVNSIMD
PEIHAQVFDYLCELWQNLAKIRDNLGISTDNLTSPSPPVLIPPLRILTPWLFKATMLTDK
YKQGKLHAYKLICNTMKRRQDVSPNRDFLTHFYNIMHCGLLHIDQDIVNTIIKHCSPQFF
SLGLPGATMLIMDFIVAAGRVASSAFLNAPRVEAQVLLGSLVCFPNLYCELPSLHPNIPD
VAVSQFTDVKELIIKTVLSSARDEPSGPARCVALCSLGIWICEELVHESHHPQIKEALNV
ICVSLKFTNKTVAHVACNMLHMLVHYVPRLQIYQPDSPLKIIQILIATITHLLPSTEASS
YEMDKRLVVSLLLCLLDWIMALPLKTLLQPFHATGAESDKTEKSVLNCIYKVLHGCVYGA
QCFSNPRYFPMSLSDLASVDYDPFMHLESLKEPEPLHSPDSERSSKLQPVTEVKTQMQHG
LISIAARTVITHLVNHLGHYPMSGGPAMLTSQVCENHDNHYSESTELSPELFESPNIQFF
VLNNTTLVSCIQIRSEENMPGGGLSAGLASANSNVRIIVRDLSGKYSWDSAILYGPPPVS
GLSEPTSFMLSLSHQEKPEEPPTSNECLEDITVKDGLSLQFKRFRETVPTWDTIRDEEDV
LDELLQYLGVTSPECLQRTGISLNIPAPQPVCISEKQENDVINAILKQHTEEKEFVEKHF
NDLNMKAVEQDEPIPQKPQSAFYYCRLLLSILGMNSWDKRRSFHLLKKNEKLLRELRNLD
SRQCRETHKIAVFYVAEGQEDKHSILTNTGGSQAYEDFVAGLGWEVNLTNHCGFMGGLQK
NKSTGLTTPYFATSTVEVIFHVSTRMPSDSDDSLTKKLRHLGNDEVHIVWSEHTRDYRRG
IIPTEFGDVLIVIYPMKNHMFSIQIMKKPEVPFFGPLFDGAIVNGKVLPIMVRATAINAS
RALKSLIPLYQNFYEERARYLQTIVQHHLEPTTFEDFAAQVFSPAPYHHLPSDADH

Sequence length

2036

Interactions

View interactions

	KEGG
	Ras signaling pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Feeding difficulties	Pathogenic	rs1595416752, rs1594878619, rs1595446167, rs1594642302, rs1595085511	RCV000853052 RCV000853053 RCV000853054 RCV000853055 RCV000853056	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	Pathogenic; Likely pathogenic	rs2141163549, rs2550196133, rs2141163058, rs2549631880, rs1595416752, rs1594878619, rs1595446167, rs1594642302, rs1595085511	RCV001808040 RCV003333383 RCV003335955 RCV003335956 RCV001007480 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RALGAPA1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	32004447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29328863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	19733229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	22581785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	32004447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32004447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	32004447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RALGAPA1 (Ral GTPase activating protein catalytic subunit alpha 1)