RAB40AL RAB40A like [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB40ALprovided by HGNC
Official Full Name: RAB40A likeprovided by HGNC
Primary source: HGNC:HGNC:25410
See related: Ensembl:ENSG00000102128 MIM:300405; AllianceGenome:HGNC:25410
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
Also known as: RAR2; RLGP; MRXSMP
Summary: This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]
Orthologs: all
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Genomic context

Location:: Xq22.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (102937272..102938300)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (101382231..101383259)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (102192200..102193228)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation.
Title: A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.
Data question the role of RAB40AL mutation as a disease-causing change and the involvement of RAB40AL in Martin-Probst syndrome.
Title: Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.
We herein present an unrelated 20-year-old male with similar manifestations also with p.D59G in the RAB40AL gene, which supports the existence of this condition previously coined as Martin-Probst syndrome
Title: Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.
This is the first study to show that mutation of RAB40AL is associated with a human disorder.
Title: Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.

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Phenotypes

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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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Clone Names

MGC119958, MGC119959, MGC119960, MGC119961

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ras-related protein Rab-40A-like

Names: RAB40A, member RAS oncogene family-like; Ras like GTPase; SOCS box containing protein RAR2; ras-like GTPase

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_017150.1 RefSeqGene

Range

5001..6029

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001031834.1 → NP_001027004.1 ras-related protein Rab-40A-like

See identical proteins and their annotated locations for NP_001027004.1

Status: REVIEWED

Source sequence(s)

BC101172

Consensus CDS

CCDS35353.1

UniProtKB/Swiss-Prot

P0C0E4, Q495H3

Related

ENSP00000218249.5, ENST00000218249.7

Conserved Domains (2) summary

cd03742
Location:187 → 228

SOCS_Rab40; SOCS (suppressors of cytokine signaling) box of Rab40-like proteins. Rab40 is part of the Rab family of small GTP-binding proteins that form the largest family within the Ras superfamily. Rab proteins regulate vesicular trafficking pathways, behaving as ...

cl21455
Location:9 → 278

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases