RAB40AL cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	RAB40AL
Entrez Gene ID	282808
Full Name	RAB40A like
Synonyms	MRXSMP,RAR2,RLGP
General protein information	Preferred Names RAB40A like Names ras-related protein Rab-40A-like RAB40A, member RAS oncogene family-like Ras like GTPase SOCS box containing protein RAR2 ras-like GTPase
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: X Map Location: Xq22.1
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].
Disorder MIM:	300405

mRNA and Protein(s)

mRNA	Protein	Name
NM_001031834.1	NP_001027004.1	ras-related protein Rab-40A-like

Pathways from BioSystems

Homologies

	RAB40AL	XP_001084457.2
Homo sapiens (human)	RAB40AL	NP_001027004.1
Pan troglodytes (chimpanzee)	RAB40AL	XP_003317631.1

Gene Ontology
Bibliography

Related articles in PubMed

A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.
O?dak M, Ruszkowska E, Pollak A, Sobczyk-Kopcio? A, Kowalewski C, Piwo?ska A, Drygas W, P?oski R
European journal of pediatrics174(5)693-6(2015 May)

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.
O?dak M, ?cie?y?ska A, M?ynarski W, Borowiec M, Ruszkowska E, Szulborski K, Pollak A, Kosi?ska J, Mueller-Malesi?ska M, Stawi?ski P, Szaflik JP, P?oski R
Human mutation35(10)1171-4(2014 Oct)

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.
Lee J, Wong S, Boles RG
European journal of pediatrics173(7)967-9(2014 Jul)

Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.
Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM
Journal of medical genetics49(5)332-40(2012 May)

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.

The following RAB40AL gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the RAB40AL cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)	Select
OHu17788	NM_001031834.1 Latest version!	Homo sapiens RAB40A like (RAB40AL), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$154.50-$216.30 $309.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

RAB40AL ( NM_001031834.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001027004.1 Homo sapiens RAB40A like (RAB40AL), mRNA.

Price & Availability↑

CloneID	OHu17788
Clone ID Related Accession (Same CDS sequence)	NM_001031834.1
Accession Version	NM_001031834.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 837bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-11-12
Organism	Homo sapiens(human)
Product	ras-related protein Rab-40A-like
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC101172.1. This sequence is a reference standard in the RefSeqGene project. On Aug 20, 2005 this sequence version replaced XM_208443.5. ##Evidence-Data-START## Transcript is intronless :: BC101169.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218249.7/ ENSP00000218249.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

ATGAGCGCCC CGGGCAGCCC CGACCAGGCC TACGACTTCC TGCTCAAGTT CCTGCTGGTG 
GGCGACAGGG ACGTAGGCAA GAGTGAGATC CTGGAGAGCC TGCAGGACGG CACGGCCGAG 
TCCCCGTACA GTCACCTGGG GGGAATCGAC TACAAGACGA CCACCATCCT GCTGGACGGC 
CAGCGGGTGA AGCTGAAGCT CTGGGATACG TCGGGGCAGG GAAGATTTTG TACCATATTC 
CGCTCCTACT CTCGTGGTGC ACAAGGAGTG ATCCTGGTCT ACGACATTGC AAACCGCTGG 
TCTTTCGAGG GTATGGATCG ATGGATTAAG AAGATTGAGG AACATGCCCC TGGTGTCCCT 
AAAATCCTGG TGGGGAATCG CCTACATCTG GCATTCAAGA GGCAGGTGCC CAGGGAGCAG 
GCCCAGGCCT ACGCCGAGCG CCTGGGCGTG ACCTTCTTTG AGGTCAGCCC TCTGTGCAAT 
TTCAACATCA TAGAGTCTTT CACGGAGCTG GCCAGGATAG TGCTGCTGCG GCACAGGTTG 
AACTGGCTCG GGAGGCCGAG CAAGGTACTG AGCTTGCAAG ACCTCTGCTG CCGCACCATC 
GTGTCCTGCA CACCTGTGCA TCTGGTGGAC AAGCTCCCGC TCCCCATTGC CTTAAGAAGC 
CACCTCAAGT CCTTCTCCAT GGCTAAGGGC CTGAATGCCA GGATGATGCG AGGCCTCTCC 
TACTCCCTCA CCACCAGCTC CACTCACAAA AGGAGCAGCC TCTGCAAAGT GAAGATCGTC 
TGCCCACCCC AGAGCCCACC CAAAAACTGC ACCAGAAACA GCTGCAAAAT TTCTTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001027004.1
CDS	48..884
Translation	MSAPGSPDQAYDFLLKFLLVGDRDVGKSEILESLQDGTAESPYSHLGGIDYKTTTILLDGQRVKLKLWDTSGQGRFCTIFRSYSRGAQGVILVYDIANRWSFEGMDRWIKKIEEHAPGVPKILVGNRLHLAFKRQVPREQAQAYAERLGVTFFEVSPLCNFNIIESFTELARIVLLRHRLNWLGRPSKVLSLQDLCCRTIVSCTPVHLVDKLPLPIALRSHLKSFSMAKGLNARMMRGLSYSLTTSSTHKRSSLCKVKIVCPPQSPPKNCTRNSCKIS

Target ORF information:

RefSeq Version	NM_001031834.1
Organism	Homo sapiens(human)
Definition	Homo sapiens RAB40A like (RAB40AL), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001031834.1

ORF Insert Sequence:

ATGAGCGCCC CGGGCAGCCC CGACCAGGCC TACGACTTCC TGCTCAAGTT CCTGCTGGTG 
GGCGACAGGG ACGTAGGCAA GAGTGAGATC CTGGAGAGCC TGCAGGACGG CACGGCCGAG 
TCCCCGTACA GTCACCTGGG GGGAATCGAC TACAAGACGA CCACCATCCT GCTGGACGGC 
CAGCGGGTGA AGCTGAAGCT CTGGGATACG TCGGGGCAGG GAAGATTTTG TACCATATTC 
CGCTCCTACT CTCGTGGTGC ACAAGGAGTG ATCCTGGTCT ACGACATTGC AAACCGCTGG 
TCTTTCGAGG GTATGGATCG ATGGATTAAG AAGATTGAGG AACATGCCCC TGGTGTCCCT 
AAAATCCTGG TGGGGAATCG CCTACATCTG GCATTCAAGA GGCAGGTGCC CAGGGAGCAG 
GCCCAGGCCT ACGCCGAGCG CCTGGGCGTG ACCTTCTTTG AGGTCAGCCC TCTGTGCAAT 
TTCAACATCA TAGAGTCTTT CACGGAGCTG GCCAGGATAG TGCTGCTGCG GCACAGGTTG 
AACTGGCTCG GGAGGCCGAG CAAGGTACTG AGCTTGCAAG ACCTCTGCTG CCGCACCATC 
GTGTCCTGCA CACCTGTGCA TCTGGTGGAC AAGCTCCCGC TCCCCATTGC CTTAAGAAGC 
CACCTCAAGT CCTTCTCCAT GGCTAAGGGC CTGAATGCCA GGATGATGCG AGGCCTCTCC 
TACTCCCTCA CCACCAGCTC CACTCACAAA AGGAGCAGCC TCTGCAAAGT GAAGATCGTC 
TGCCCACCCC AGAGCCCACC CAAAAACTGC ACCAGAAACA GCTGCAAAAT TTCTTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.
European journal of pediatrics174(5)693-6(2015 May)
O?dak M,Ruszkowska E,Pollak A,Sobczyk-Kopcio? A,Kowalewski C,Piwo?ska A,Drygas W,P?oski R

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.
Human mutation35(10)1171-4(2014 Oct)
O?dak M,?cie?y?ska A,M?ynarski W,Borowiec M,Ruszkowska E,Szulborski K,Pollak A,Kosi?ska J,Mueller-Malesi?ska M,Stawi?ski P,Szaflik JP,P?oski R

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.
European journal of pediatrics173(7)967-9(2014 Jul)
Lee J,Wong S,Boles RG

Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.
Journal of medical genetics49(5)332-40(2012 May)
Bedoyan JK,Schaibley VM,Peng W,Bai Y,Mondal K,Shetty AC,Durham M,Micucci JA,Dhiraaj A,Skidmore JM,Kaplan JB,Skinner C,Schwartz CE,Antonellis A,Zwick ME,Cavalcoli JD,Li JZ,Martin DM

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RAB40AL cDNA ORF clone, Homo sapiens(human)

Gene

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gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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