RALBP1 ralA binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RALBP1provided by HGNC
Official Full Name: ralA binding protein 1provided by HGNC
Primary source: HGNC:HGNC:9841
See related: Ensembl:ENSG00000017797 MIM:605801; AllianceGenome:HGNC:9841
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RIP1; RLIP1; RLIP76
Summary: RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]
Expression: Ubiquitous expression in kidney (RPKM 28.4), skin (RPKM 27.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.22

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (9475009..9538114)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (9636797..9701515)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (9475511..9538112)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of RLIP76 in oxidative stress and mitochondrial dysfunction: Evidence based on autopsy brains from Alzheimer's disease patients.
Title: The role of RLIP76 in oxidative stress and mitochondrial dysfunction: Evidence based on autopsy brains from Alzheimer's disease patients.
Abnormal interaction of Rlip with mutant APP/Abeta and phosphorylated tau reduces wild-type Rlip levels and disrupt Rlip function in Alzheimer's disease.
Title: Abnormal interaction of Rlip with mutant APP/Abeta and phosphorylated tau reduces wild-type Rlip levels and disrupt Rlip function in Alzheimer's disease.
Crucial Role of RLIP76 in Promoting Glycolysis and Tumorigenesis by Stabilization of HIF-1alpha in Glioma Cells Under Hypoxia.
Title: Crucial Role of RLIP76 in Promoting Glycolysis and Tumorigenesis by Stabilization of HIF-1α in Glioma Cells Under Hypoxia.
The ABCB1, ABCC2 and RALBP1 polymorphisms are associated with carbamazepine response in epileptic patient: a systematic review.
Title: The ABCB1, ABCC2 and RALBP1 polymorphisms are associated with carbamazepine response in epileptic patient: a systematic review.
RLIP depletion induces apoptosis associated with inhibition of JAK2/STAT3 signaling in melanoma cells.
Title: RLIP depletion induces apoptosis associated with inhibition of JAK2/STAT3 signaling in melanoma cells.
Activating p53 function by targeting RLIP.
Title: Activating p53 function by targeting RLIP.
Prevention of mammary carcinogenesis in MMTV-neu mice by targeting RLIP.
Title: Prevention of mammary carcinogenesis in MMTV-neu mice by targeting RLIP.
Results indicated that the expression levels of RLIP76 were significantly upregulated in IDH1Wt gliomas compared with the IDH1Mut gliomas.
Title: Increased RLIP76 expression in IDH1 wild‑type glioblastoma multiforme is associated with worse prognosis.
Studies indicate the glutathione-conjugates (GS-Es) transport activity of ralA binding protein 1 (RLIP), which determines the rate of ligand endocytosis [Review].
Title: RLIP controls receptor-ligand signaling by regulating clathrin-dependent endocytosis.
RLBP1 may mediate squamous cell tumorigenesis in oral cavity, independently of the RAS protein and through Akt.
Title: RALBP1 regulates oral cancer cells via Akt and is a novel target of miR-148a-3p and miR-148b-3p.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ralA binding protein 1 (RALBP1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-32001 (e-PCR)
- UniSTS:21308

G43251 (e-PCR)
- UniSTS:94906

D18S1082 (e-PCR)
- UniSTS:154314

RH80877 (e-PCR)
- UniSTS:88024

D18S910E (e-PCR)
- UniSTS:72417

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type glutathione S-conjugate transporter activity	IEA Inferred from Electronic Annotation more info
enables ABC-type xenobiotic transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ATPase-coupled transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activator activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables xenobiotic transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in chemotaxis	TAS Traceable Author Statement more info	PubMed
involved_in doxorubicin transport	IDA Inferred from Direct Assay more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitochondrial fission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of Cdc42 protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in small GTPase-mediated signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in small GTPase-mediated signal transduction	IPI Inferred from Physical Interaction more info	PubMed
involved_in transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic detoxification by transmembrane export across the plasma membrane	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in spindle pole	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ralA-binding protein 1

Names: 76 kDa Ral-interacting protein; DNP-SG ATPase; dinitrophenyl S-glutathione ATPase; ral-interacting protein 1

NP_006779.1

EC 7.6.2.2

EC 7.6.2.3

XP_047293234.1

EC 7.6.2.2

EC 7.6.2.3

XP_047293235.1

EC 7.6.2.2

EC 7.6.2.3

XP_047293236.1

EC 7.6.2.2

EC 7.6.2.3

XP_047293237.1

EC 7.6.2.2

EC 7.6.2.3

XP_047293238.1

EC 7.6.2.2

EC 7.6.2.3

XP_047293239.1

EC 7.6.2.2

EC 7.6.2.3

XP_047293240.1

EC 7.6.2.2

EC 7.6.2.3

XP_054174134.1

EC 7.6.2.2

EC 7.6.2.3

XP_054174135.1

EC 7.6.2.2

EC 7.6.2.3

XP_054174136.1

EC 7.6.2.2

EC 7.6.2.3

XP_054174137.1

EC 7.6.2.2

EC 7.6.2.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_006788.4 → NP_006779.1 ralA-binding protein 1

See identical proteins and their annotated locations for NP_006779.1

Status: VALIDATED

Source sequence(s)

AP005432, BC013126, BF794440, BQ224100, BQ674032, BX352266, L42542

Consensus CDS

CCDS11845.1

UniProtKB/Swiss-Prot

D3DUI0, Q15311

UniProtKB/TrEMBL

A0A2X0U2N0

Related

ENSP00000372924.3, ENST00000383432.8

Conserved Domains (2) summary

cd04381
Location:190 → 371

RhoGap_RalBP1; RhoGap_RalBP1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in RalBP1 proteins, also known as RLIP, RLIP76 or cytocentrin. RalBP1 plays an important role in endocytosis during interphase. During mitosis, RalBP1 ...

cl25732
Location:400 → 627

SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

9475009..9538114

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047437278.1 → XP_047293234.1 ralA-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DUI0, Q15311

Related

ENSP00000019317.4, ENST00000019317.8
XM_047437282.1 → XP_047293238.1 ralA-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DUI0, Q15311
XM_047437281.1 → XP_047293237.1 ralA-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DUI0, Q15311
XM_047437279.1 → XP_047293235.1 ralA-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DUI0, Q15311
XM_047437284.1 → XP_047293240.1 ralA-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DUI0, Q15311
XM_047437280.1 → XP_047293236.1 ralA-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DUI0, Q15311
XM_047437283.1 → XP_047293239.1 ralA-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DUI0, Q15311

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

9636797..9701515

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054318159.1 → XP_054174134.1 ralA-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DUI0, Q15311
XM_054318162.1 → XP_054174137.1 ralA-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DUI0, Q15311
XM_054318161.1 → XP_054174136.1 ralA-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DUI0, Q15311
XM_054318160.1 → XP_054174135.1 ralA-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DUI0, Q15311