RASAL3 RAS protein activator like 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RASAL3provided by HGNC
Official Full Name: RAS protein activator like 3provided by HGNC
Primary source: HGNC:HGNC:26129
See related: Ensembl:ENSG00000105122 MIM:616561; AllianceGenome:HGNC:26129
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed exogenously. Reduced expression of this gene in some cell lines resulted in increased levels of the active form of Ras (Ras-GTP), suggesting that this gene may play a role in negatively regulating the Ras signaling pathway. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
Expression: Broad expression in lymph node (RPKM 18.0), spleen (RPKM 15.7) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.12

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (15451624..15464544, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (15576612..15589556, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (15562435..15575355, complement)

Chromosome 19 - NC_000019.10 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?

CD229 interacts with RASAL3 to activate RAS/ERK pathway in multiple myeloma proliferation.
Title: CD229 interacts with RASAL3 to activate RAS/ERK pathway in multiple myeloma proliferation.
identified a novel Ras GTPase-activating proteins protein, RASAL3, which is predominantly expressed in cells of hematopoietic lineages, including NKT, B, and T cells
Title: RASAL3, a novel hematopoietic RasGAP protein, regulates the number and functions of NKT cells.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of Ras protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of NK T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: RAS protein activator like-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.

Genomic

NG_052951.1 RefSeqGene

Range

5038..17958

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001348027.2 → NP_001334956.1 RAS protein activator like-3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks multiple exons in the 3' coding region and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter C-terminus, compared to isoform 1.

Source sequence(s)

AC011492, AK122587

UniProtKB/Swiss-Prot

Q86YV0

Conserved Domains (3) summary

cd13374
Location:180 → 321

PH_RASAL3; RAS protein activator like-3 Pleckstrin homology (PH) domain

cl02569
Location:426 → 574

RasGAP; Ras GTPase Activating Domain

cl14603
Location:294 → 406

C2; C2 domain
NM_001348028.2 → NP_001334957.1 RAS protein activator like-3 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in its 5' coding region, lacks multiple exons in the 3' coding region, and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' UTR, compared to variant 1. The encoded isoform (3) lacks a small internal segment and has a shorter C-terminus, compared to isoform 1.

Source sequence(s)

AC011492, AK122587, AL561064

UniProtKB/Swiss-Prot

Q86YV0

Conserved Domains (3) summary

cl02569
Location:420 → 568

RasGAP; Ras GTPase Activating Domain

cl14603
Location:288 → 400

C2; C2 domain

cl17171
Location:180 → 315

PH-like; Pleckstrin homology-like domain
NM_001400377.1 → NP_001387306.1 RAS protein activator like-3 isoform 4

Status: REVIEWED

Source sequence(s)

AC011492
NM_001400378.1 → NP_001387307.1 RAS protein activator like-3 isoform 5

Status: REVIEWED

Source sequence(s)

AC011492
NM_001400379.1 → NP_001387308.1 RAS protein activator like-3 isoform 6

Status: REVIEWED

Source sequence(s)

AC011492
NM_001400380.1 → NP_001387309.1 RAS protein activator like-3 isoform 7

Status: REVIEWED

Source sequence(s)

AC011492
NM_001400381.1 → NP_001387310.1 RAS protein activator like-3 isoform 8

Status: REVIEWED

Source sequence(s)

AC011492
NM_022904.3 → NP_075055.1 RAS protein activator like-3 isoform 1

See identical proteins and their annotated locations for NP_075055.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK122587, BC030281

Consensus CDS

CCDS46006.1

UniProtKB/Swiss-Prot

Q86YV0, Q8N2T9, Q9H735

Related

ENSP00000341905.5, ENST00000343625.12

Conserved Domains (4) summary

cd05136
Location:426 → 743

RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins

cd13374
Location:180 → 321

PH_RASAL3; RAS protein activator like-3 Pleckstrin homology (PH) domain

pfam12329
Location:889 → 972

TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

cl14603
Location:294 → 406

C2; C2 domain

RNA

NR_174477.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC011492
NR_174478.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC011492

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

15451624..15464544 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528186.2 → XP_011526488.1 RAS protein activator like-3 isoform X1

Conserved Domains (4) summary

cd05136
Location:420 → 740

RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins

pfam12329
Location:886 → 969

TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

cl14603
Location:288 → 400

C2; C2 domain

cl17171
Location:180 → 315

PH-like; Pleckstrin homology-like domain
XM_011528187.2 → XP_011526489.1 RAS protein activator like-3 isoform X3

Conserved Domains (4) summary

cd05136
Location:426 → 746

RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins

cd13374
Location:180 → 321

PH_RASAL3; RAS protein activator like-3 Pleckstrin homology (PH) domain

pfam12329
Location:892 → 943

TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

cl14603
Location:294 → 406

C2; C2 domain
XM_047439231.1 → XP_047295187.1 RAS protein activator like-3 isoform X2