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Aliases for RABGAP1L Gene

Aliases for RABGAP1L Gene

  • RAB GTPase Activating Protein 1-Like 2 3 5
  • HHL 3 4
  • Expressed In Hematopoietic Cells, Heart, Liver (HLL) 3
  • TBC1 Domain Family, Member 18 3
  • KIAA0471 4
  • TBC1D18 3

External Ids for RABGAP1L Gene

Previous GeneCards Identifiers for RABGAP1L Gene

  • GC01P170860
  • GC01P172395
  • GC01P145353

Summaries for RABGAP1L Gene

GeneCards Summary for RABGAP1L Gene

RABGAP1L (RAB GTPase Activating Protein 1-Like) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity and Rab GTPase binding. An important paralog of this gene is EVI5L.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RABGAP1L Gene

Genomics for RABGAP1L Gene

Regulatory Elements for RABGAP1L Gene

Promoters for RABGAP1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RABGAP1L on UCSC Golden Path with GeneCards custom track

Genomic Location for RABGAP1L Gene

Chromosome:
1
Start:
174,159,410 bp from pter
End:
174,995,308 bp from pter
Size:
835,899 bases
Orientation:
Plus strand

Genomic View for RABGAP1L Gene

Genes around RABGAP1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RABGAP1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RABGAP1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RABGAP1L Gene

Proteins for RABGAP1L Gene

  • Protein details for RABGAP1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B7ZAP0-RBG10_HUMAN
    Recommended name:
    Rab GTPase-activating protein 1-like, isoform 10
    Protein Accession:
    B7ZAP0
    Secondary Accessions:
    • B7ZAA4

    Protein attributes for RABGAP1L Gene

    Size:
    253 amino acids
    Molecular mass:
    29038 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RABGAP1L Gene

  • Protein details for RABGAP1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5R372-RBG1L_HUMAN
    Recommended name:
    Rab GTPase-activating protein 1-like
    Protein Accession:
    Q5R372
    Secondary Accessions:
    • O75059
    • Q3ZTR8
    • Q5R369
    • Q8IVV0
    • Q8N921
    • Q8WV78
    • Q9NSP8
    • Q9UQ19
    • Q9UQP5
    • Q9Y6Y5
    • Q9Y6Y6

    Protein attributes for RABGAP1L Gene

    Size:
    815 amino acids
    Molecular mass:
    92513 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA32316.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RABGAP1L Gene

    Alternative splice isoforms for RABGAP1L Gene

neXtProt entry for RABGAP1L Gene

Proteomics data for RABGAP1L Gene at MOPED

Post-translational modifications for RABGAP1L Gene

  • Ubiquitination at Lys 570
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RABGAP1L Gene

Domains & Families for RABGAP1L Gene

Protein Domains for RABGAP1L Gene

Graphical View of Domain Structure for InterPro Entry

Q5R372

UniProtKB/Swiss-Prot:

RBG1L_HUMAN :
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
  • Contains 1 PID domain.
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with RABGAP1L: view

No data available for Gene Families for RABGAP1L Gene

Function for RABGAP1L Gene

Molecular function for RABGAP1L Gene

UniProtKB/Swiss-Prot Induction:
Up-regulated in esophageal squamous cell carcinomas. Expression is strongly inhibited in the medial septum and hippocampus brain regions of some Alzheimer disease patients.

Gene Ontology (GO) - Molecular Function for RABGAP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 16923123
GO:0017137 Rab GTPase binding IDA 16923123
genes like me logo Genes that share ontologies with RABGAP1L: view
genes like me logo Genes that share phenotypes with RABGAP1L: view

Animal Model Products

miRNA for RABGAP1L Gene

miRTarBase miRNAs that target RABGAP1L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RABGAP1L Gene

Localization for RABGAP1L Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RABGAP1L Gene COMPARTMENTS Subcellular localization image for RABGAP1L gene
Compartment Confidence
endosome 5
golgi apparatus 5
nucleus 5
cytosol 4
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RABGAP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16923123
genes like me logo Genes that share ontologies with RABGAP1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RABGAP1L Gene

Pathways & Interactions for RABGAP1L Gene

SuperPathways for RABGAP1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for RABGAP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032880 regulation of protein localization IDA 16923123
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with RABGAP1L: view

No data available for Pathways by source and SIGNOR curated interactions for RABGAP1L Gene

Drugs & Compounds for RABGAP1L Gene

No Compound Related Data Available

Transcripts for RABGAP1L Gene

Unigene Clusters for RABGAP1L Gene

RAB GTPase activating protein 1-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RABGAP1L Gene

No ASD Table

Relevant External Links for RABGAP1L Gene

GeneLoc Exon Structure for
RABGAP1L
ECgene alternative splicing isoforms for
RABGAP1L

Expression for RABGAP1L Gene

mRNA expression in normal human tissues for RABGAP1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RABGAP1L Gene

This gene is overexpressed in Heart - Atrial Appendage (x4.2).

Protein differential expression in normal tissues from HIPED for RABGAP1L Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.7), Pancreas (10.8), Fetal gut (8.6), CD8 Tcells (8.1), and Lymph node (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RABGAP1L Gene



SOURCE GeneReport for Unigene cluster for RABGAP1L Gene Hs.585378

genes like me logo Genes that share expression patterns with RABGAP1L: view

Protein tissue co-expression partners for RABGAP1L Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for RABGAP1L Gene

Orthologs for RABGAP1L Gene

This gene was present in the common ancestor of animals.

Orthologs for RABGAP1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RABGAP1L 36
  • 99 (a)
OneToOne
RABGAP1L 35
  • 99.75 (n)
  • 99.63 (a)
cow
(Bos Taurus)
Mammalia MGC157043 36
  • 26 (a)
OneToMany
RABGAP1L 36
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 14 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
RABGAP1L 35
  • 94.08 (n)
  • 95.81 (a)
mouse
(Mus musculus)
Mammalia Rabgap1l 36
  • 93 (a)
OneToOne
Rabgap1l 35
  • 89.9 (n)
  • 93.5 (a)
Rabgap1l 16
oppossum
(Monodelphis domestica)
Mammalia RABGAP1L 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RABGAP1L 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rabgap1l 35
  • 90.18 (n)
  • 94.11 (a)
chicken
(Gallus gallus)
Aves RABGAP1L 35
  • 78.46 (n)
  • 85.14 (a)
RABGAP1L 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RABGAP1L 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52980 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11038 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7301 35
zebrafish
(Danio rerio)
Actinopterygii RABGAP1L 36
  • 55 (a)
OneToOne
si:ch211-197g15.12 35
  • 68.66 (n)
  • 73.5 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7112 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-11 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for RABGAP1L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RABGAP1L Gene

ENSEMBL:
Gene Tree for RABGAP1L (if available)
TreeFam:
Gene Tree for RABGAP1L (if available)

Paralogs for RABGAP1L Gene

Paralogs for RABGAP1L Gene

(8) SIMAP similar genes for RABGAP1L Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for RABGAP1L Gene

genes like me logo Genes that share paralogs with RABGAP1L: view

Variants for RABGAP1L Gene

Sequence variations from dbSNP and Humsavar for RABGAP1L Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs7339904 - 174,250,586(+) CCTTC(A/G)GTGTC nc-transcript-variant, reference, missense
rs189141 -- 174,744,969(+) aatcc(A/G)aaatt intron-variant
rs162815 -- 174,738,792(-) ATTGA(A/G)CCTAA intron-variant
rs392368 -- 174,643,761(-) GATTT(A/G)AAAAG intron-variant
rs395109 -- 174,641,233(+) TGGCT(C/G)TGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RABGAP1L Gene

Variant ID Type Subtype PubMed ID
nsv831937 CNV Gain 17160897
nsv465661 CNV Loss 19166990
nsv872552 CNV Loss 21882294
nsv465672 CNV Loss 19166990
nsv470746 CNV Loss 18288195
nsv825442 CNV Loss 20364138
nsv528675 CNV Loss 19592680
nsv872553 CNV Loss 21882294
nsv872554 CNV Loss 21882294
esv2663855 CNV Deletion 23128226
esv272851 CNV Insertion 20981092
esv271100 CNV Insertion 20981092
nsv872555 CNV Loss 21882294
esv2719573 CNV Deletion 23290073
esv2675954 CNV Deletion 23128226
esv2544302 CNV Deletion 19546169
dgv150e1 CNV Complex 17122850
nsv482922 CNV Gain 15286789
esv2632719 CNV Insertion 19546169
esv269658 CNV Insertion 20981092
nsv516953 CNV Gain+Loss 19592680
dgv16n17 CNV Loss 16327808
nsv872556 CNV Loss 21882294
nsv8547 CNV Loss 18304495
dgv88n67 CNV Loss 20364138
esv2719585 CNV Deletion 23290073
nsv442393 CNV CNV 18776908
dgv80e199 CNV Deletion 23128226
esv26467 CNV Loss 19812545
nsv514019 CNV Loss 21397061
dgv43n27 CNV Loss 19166990
nsv438104 CNV Loss 16468122
nsv818578 CNV Gain+Loss 17921354
dgv407n71 CNV Loss 21882294
esv2659714 CNV Deletion 23128226
esv274970 CNV Gain+Loss 21479260
esv2663655 CNV Deletion 23128226
nsv512750 CNV Insertion 21212237
esv1344689 CNV Insertion 17803354

Variation tolerance for RABGAP1L Gene

Residual Variation Intolerance Score: 9.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.78; 66.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RABGAP1L Gene

HapMap Linkage Disequilibrium report
RABGAP1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RABGAP1L Gene

Disorders for RABGAP1L Gene

Relevant External Links for RABGAP1L

Genetic Association Database (GAD)
RABGAP1L
Human Genome Epidemiology (HuGE) Navigator
RABGAP1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RABGAP1L

No disorders were found for RABGAP1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RABGAP1L Gene

Publications for RABGAP1L Gene

  1. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson J.E. … Couch F.J. (Breast Cancer Res. Treat. 2011) 3 48 67
  2. Gene trapping of two novel genes, Hzf and Hhl, expressed in hematopoietic cells. (PMID: 10585558) Hidaka M. … Bernstein A. (Mech. Dev. 2000) 2 3
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women. (PMID: 23335107) Kim J.H. … Chung Y.J. (Arthritis Rheum. 2013) 3

Products for RABGAP1L Gene

Sources for RABGAP1L Gene

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