RALBP1

ralA binding protein 1

Basic information

Region (hg38): 18:9475008-9538114

Links

ENSG00000017797 ∙ NCBI:10928 ∙ OMIM:605801 ∙ HGNC:9841 ∙ Uniprot:Q15311 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RALBP1 gene.

• Inborn genetic diseases (18 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RALBP1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4		4
missense			16	2	2	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	6	2

Variants in RALBP1

This is a list of pathogenic ClinVar variants found in the RALBP1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
18-9513090-C-A		not specified	Uncertain significance (Feb 17, 2024)
18-9516858-A-G			Likely benign (May 16, 2018)
18-9516871-G-C		not specified	Uncertain significance (Aug 17, 2022)
18-9517007-A-G		not specified	Uncertain significance (Sep 01, 2021)
18-9517184-C-G		not specified	Uncertain significance (Dec 07, 2021)
18-9517223-G-A			Benign (Jan 08, 2018)
18-9517258-G-C		not specified	Uncertain significance (Apr 25, 2022)
18-9517280-G-T		not specified	Uncertain significance (Apr 27, 2023)
18-9522213-A-G		not specified	Uncertain significance (Oct 03, 2023)
18-9522340-C-T			Benign (Jul 06, 2018)
18-9522350-G-A			Likely benign (Jun 08, 2018)
18-9522370-G-T		not specified	Uncertain significance (Feb 09, 2023)
18-9522420-A-G		not specified	Uncertain significance (Aug 08, 2022)
18-9522438-G-A		not specified	Uncertain significance (Feb 15, 2023)
18-9524709-C-T		not specified	Uncertain significance (Mar 29, 2022)
18-9525744-C-G		not specified	Uncertain significance (May 27, 2022)
18-9525762-A-T		not specified	Uncertain significance (Nov 13, 2023)
18-9525774-T-C		not specified	Uncertain significance (May 04, 2023)
18-9533392-C-T		not specified	Uncertain significance (Sep 29, 2022)
18-9533762-G-A		not specified	Uncertain significance (Oct 26, 2021)
18-9535713-G-A		not specified	Uncertain significance (Nov 29, 2023)
18-9535734-G-A		not specified	Uncertain significance (Jun 02, 2023)
18-9535773-G-A		not specified	Uncertain significance (Jun 01, 2023)
18-9535782-G-T		not specified	Uncertain significance (Dec 26, 2023)
18-9535783-C-T		not specified	Likely benign (Aug 10, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RALBP1	protein_coding	protein_coding	ENST00000019317	9	63108

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.147	0.853	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.01	254	361	0.703	0.0000204	4341
Missense in Polyphen		42	83.523	0.50285		1220
Synonymous	0.485	129	136	0.947	0.00000815	1180
Loss of Function	3.94	8	32.1	0.249	0.00000182	393

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000138	0.000123
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.00	0.00
Finnish	0.000487	0.000462
European (Non-Finnish)	0.000140	0.000132
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin. {ECO:0000269|PubMed:11437348, ECO:0000269|PubMed:12775724, ECO:0000269|PubMed:7673236}.
• Pathway: Doxorubicin Pathway (Cancer Cell), Pharmacodynamics;Ras signaling pathway - Homo sapiens (human);Doxorubicin Pathway, Pharmacokinetics;Pathways in cancer - Homo sapiens (human);Carbamazepine Pathway, Pharmacokinetics;Pancreatic cancer - Homo sapiens (human);Vinka Alkaloid Pathway, Pharmacokinetics;Doxorubicin Metabolism Pathway;Vincristine Action Pathway;Vinblastine Action Pathway;Vinorelbine Action Pathway;Vindesine Action Pathway;RalA downstream regulated genes;Ras Signaling;EGF-EGFR Signaling Pathway;Signal Transduction;ras signaling pathway;rho cell motility signaling pathway;t cell receptor signaling pathway;rac1 cell motility signaling pathway;Rho GTPase cycle;adp-ribosylation factor;Signaling by Rho GTPases;EGFR1;Regulation of RAC1 activity;Regulation of CDC42 activity (Consensus)

Recessive Scores

• pRec: 0.171

Intolerance Scores

• loftool: 0.390
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.88

Haploinsufficiency Scores

• pHI: 0.132
• hipred: Y
• hipred_score: 0.800
• ghis: 0.552

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.935

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ralbp1
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: drug transmembrane transport;endocytosis;chemotaxis;signal transduction;small GTPase mediated signal transduction;regulation of GTPase activity;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction;transmembrane transport;doxorubicin transport
• Cellular component: cytosol;membrane
• Molecular function: GTPase activator activity;protein binding;drug transmembrane transporter activity;Ral GTPase binding;transmembrane transporter activity;ATPase activity, coupled to transmembrane movement of substances;Rac GTPase binding