RAB40AL Gene
protein-coding GIFtS: 43
GCID: GC0XP102192
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|
RAB40A, member RAS oncogene family-like
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Aliases
for RAB40AL gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| RAB40A, Member RAS Oncogene Family-Like1 2 | | MRXSMP2 | | RLGP1 2 3 5 | | Ras Like GTPase2 | | RAR21 2 | | Ras-Related Protein Rab-40A-Like2 | | Ras-Like GTPase2 3 | | SOCS Box Containing Protein RAR22 |
Export aliases for RAB40AL gene to outside databasesPrevious GC identifers: GC00U921648 GC0XP102079 GC0XP091857 |
Summaries
for RAB40AL gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RAB40AL:
This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminalsuppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy.(provided by RefSeq, Apr 2010)
UniProtKB/Swiss-Prot: RB40L_HUMAN, P0C0E4Function: May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitinligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (Bysimilarity)
|
Genomic Views
for RAB40AL gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011651.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RAB40AL gene promoter:
GR p53 p300 NRSF form 1 POU6F1 (c2) NRSF form 2 C/EBPalpha AREB6 GR-alpha ITF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for RAB40AL
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB40AL |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq22.2 Ensembl cytogenetic band: Xq22.1 HGNC cytogenetic band: Xq22.2RAB40AL Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XP102192: view genomic region
(about GC identifiers)
Start:
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102,192,200 bp from pter |
End:
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102,193,228 bp from pter |
Size:
|
1,029 bases |
Orientation:
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plus strand |
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Proteins
for RAB40AL gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: RB40L_HUMAN, P0C0E4 (See
protein sequence)Recommended Name: Ras-related protein Rab-40A-like Size: 278 amino acids; 31239 Da
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side. Mitochondrion
Secondary accessions: Q495H3Explore the universe of human proteins at neXtProt for RAB40AL: NX_P0C0E4
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P0C0E4
RAB40AL Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001027004.1
ENSEMBL proteins: ENSP00000218249
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
RAB40AL for ontologies About GeneDecksing
RAB40AL Antibody Products:
Assay Products for RAB40AL: |
Protein
Domains /
Families
for RAB40AL gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RAB40AL for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P0C0E4ProtoNet protein and cluster: P0C0E4 1 Blocks protein family: IPB001496 SOCS protein
UniProtKB/Swiss-Prot: RB40L_HUMAN, P0C0E4Domain: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3ubiquitin ligase complexes (By similarity)Similarity: Belongs to the small GTPase superfamily. Rab familySimilarity: Contains 1 SOCS box domain |
Function
for RAB40AL gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RB40L_HUMAN, P0C0E4Function: May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitinligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (Bysimilarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAB40AL
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAB40AL
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB40AL |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005525 | GTP binding |
IEA | -- |
RAB40AL for ontologies About GeneDecksing
|
Pathways & Interactions
for RAB40AL gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
UniProtKB/Swiss-Prot: RB40L_HUMAN, P0C0E4Pathway: Protein modification; protein ubiquitinationInteractions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAB40AL
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007264 | small GTPase mediated signal transduction |
IEA | -- | | GO:0015031 | protein transport |
IEA | -- | | GO:0016567 | protein ubiquitination |
IEA | -- |
RAB40AL for ontologies About GeneDecksing
|
Drugs & Compounds
for RAB40AL gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for RAB40AL
Search CenterWatch for drugs/clinical trials and news about RAB40AL / RB40L
|
Transcripts
for RAB40AL gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for RAB40AL gene: NM_001031834.1 Unigene Cluster for RAB40AL: RAB40A, member RAS oncogene family-like Hs.449517 Unigene Representative Sequence: BC1011701 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000218249(uc004ejs.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAB40AL
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAB40AL
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: RAB40AL (NM_001031834) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RAB40AL | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB40AL |
Additional cDNA sequence: BC101169.1 BC101170.2 BC101171.1 BC101172.1 1 DOTS entry: DT.121305595
GeneLoc Exon Structure
|
Expression
for RAB40AL gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RAB40AL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAACAATGC
About this image
See RAB40AL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RAB40AL
SOURCE GeneReport for Unigene cluster: Hs.449517
UniProtKB/Swiss-Prot: RB40L_HUMAN, P0C0E4Tissue specificity: Expressed in brain, lung, heart, skeletal muscle, kidney and liver. Highest expression in brain.Expressed in fetal brain and kidney
SABiosciences Custom PCR Arrays for RAB40AL
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RAB40AL
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat RAB40AL | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAB40AL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAB40AL | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB40AL |
Orthologs
for RAB40AL gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for RAB40AL gene from 4/10 species (see all 10) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
F1NPF9_CHICK6 |
Uncharacterized protein |
74(a) |
1 → many |
18(3338797-3361778) |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
74(a) |
1 → many |
2(103680964-103703579) |
zebrafish
(Danio rerio) |
Actinopterygii |
rab40b6 |
RAB40B, member RAS oncogene family |
78(a) |
1 → many |
12(33726278-33753571) |
fruit fly
(Drosophila melanogaster) |
Insecta |
Rab406 |
Rab40 |
58(a) |
1 → many |
X(12353823-12357141) |
ENSEMBL Gene Tree for RAB40AL (if available)
TreeFam Gene Tree for RAB40AL (if available) |
Paralogs
for RAB40AL gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for RAB40AL gene
- RAB40A2 RAB40C2 RAB40B2
18/44 SIMAP similar genes for RAB40AL using alignment to 1 protein entry: RB40L_HUMAN(see all similar genes):RAB40A RAB40B RAB40C RAB10 RAB13 RAB8A
RAB8B RAB15 RAB19 RAB43 RAB11A RAB11B
RAB30 RAB26 RAB1B RAB35 RAB37 RAB3C
RAB40AL for paralogs About GeneDecksing
|
Genomic Variants
for RAB40AL gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RAB40AL (102192200 - 102193228 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RAB40AL: --
Human Gene Mutation Database (HGMD): RAB40AL
Locus Specific Mutation Databases (LSDB): RAB40AL
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAB40AL |
|
Disorders
/ Diseases
for RAB40AL gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RAB40AL for disorders About GeneDecksing
OMIM gene information: 300405
OMIM disorders: --
UniProtKB/Swiss-Prot: RB40L_HUMAN, P0C0E4
Defects in RAB40AL are the cause of mental retardation, syndromic, X-linked Martin-Probst type (MRXSMP)[MIM:300519]. A rare neurodevelopmental disorder characterized by mental retardation, sensorineural hearing loss,short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormaldermatoglyphics, renal insufficiency, and impaired haematopoiesis. Mental retardation is defined as significantlybelow average general intellectual functioning associated with impairments in adaptative behavior and manifestedduring the developmental period
7  diseases for RAB40AL: About MalaCardsduchenne muscular dystrophy muscular dystrophy mental retardation, profound vitelliform macular dystrophy
macular dystrophy cerebral palsy cerebritis
Export disorders for RAB40AL gene to outside databases
|
Publications
for RAB40AL gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for RAB40AL gene integrated from 9 sources:
(articles sorted by number of sources associating them with RAB40AL) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. (PubMed id 12145744)1, 2, 9 Saito-Ohara F.... Inazawa J. (2002)
- Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. (PubMed id 22581972)1, 2 Bedoyan J.K.... Martin D.M. (2012)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- The SOCS box: a tale of destruction and degradation. (PubMed id 12076535)1 Kile B.T....Hilton D.J. (2002)
|
External Searches for RAB40AL gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RAB40AL gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RAB40AL gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RAB40AL gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for RAB40AL gene:
Search GeneIP for patents involving RAB40AL
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RAB40AL gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |  |  |  |  | | | | |
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 | | | RAB40AL Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB40AL |
|  |  |  | | | | Search ThermoFisher Antibodies for RAB40AL |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB40AL |
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