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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
  • Rab GTPase-Activating Protein 1-Like 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. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab GTPase binding. An important paralog of this gene is RABGAP1.

UniProtKB/Swiss-Prot for RABGAP1L Gene

  • GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A-GDP (PubMed:16923123). Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylinositol 3-phosphate (PI3P)-positive early endosomes, where it inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity).

Additional gene information for RABGAP1L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RABGAP1L Gene

Genomics for RABGAP1L Gene

GeneHancer (GH) Regulatory Elements for RABGAP1L Gene

Promoters and enhancers for RABGAP1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I174873 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 568.9 +716.7 716700 4.6 HDGF PKNOX1 SMAD1 ATF1 SIN3A YY1 POLR2B ZNF766 ZNF143 FOS RABGAP1L SERPINC1 RNU6-307P ENSG00000237249 GC01M174850
GH01I174963 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 568.4 +808.3 808338 9.2 HDGF PKNOX1 SMAD1 ARNT FEZF1 IRF4 YY1 ZNF766 JUNB ZNF592 RABGAP1L MRPS14 RNU6-307P CACYBP TNN KIAA0040 LOC101928696
GH01I174158 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 572.8 -0.1 -66 3.7 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B RABGAP1L LOC102724601 RC3H1 ANKRD45 GAS5 ZBTB37 RNU7-78P GC01M174104
GH01I174798 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 569.7 +640.6 640580 2.7 HDGF PKNOX1 ARNT ZNF133 SIN3A FEZF1 GLI4 ZNF2 IRF4 YY1 RABGAP1L SERPINC1 RC3H1 GC01M174826 BANF1P4
GH01I175028 Enhancer 1.4 Ensembl ENCODE dbSUPER 16.6 +870.3 870263 1.6 HDGF FOXA2 MLX ARNT ARID4B ZNF2 IRF4 ZNF766 ZNF207 ZNF143 RABGAP1L TNN MRPS14 GC01P175044
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RABGAP1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RABGAP1L gene promoter:

Genomic Locations for RABGAP1L Gene

Genomic Locations for RABGAP1L Gene
chr1:174,159,410-174,995,308
(GRCh38/hg38)
Size:
835,899 bases
Orientation:
Plus strand
chr1:174,128,548-174,964,445
(GRCh37/hg19)

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:
    • Interacts (via Rab-GAP TBC domain) with ANK2 (via death domain).
    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

Post-translational modifications for RABGAP1L Gene

  • Ubiquitination at isoforms=3, 4570

No data available for DME Specific Peptides for RABGAP1L Gene

Domains & Families for RABGAP1L Gene

Gene Families for RABGAP1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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.
genes like me logo Genes that share domains with RABGAP1L: view

Function for RABGAP1L Gene

Molecular function for RABGAP1L Gene

UniProtKB/Swiss-Prot Function:
GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A-GDP (PubMed:16923123). Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylinositol 3-phosphate (PI3P)-positive early endosomes, where it inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity).
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.

Phenotypes From GWAS Catalog for RABGAP1L Gene

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

CRISPR Products

miRNA for RABGAP1L Gene

miRTarBase miRNAs that target RABGAP1L

Inhibitory RNA Products

Clone Products

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 UniProtKB/Swiss-Prot for RABGAP1L Gene

Cytoplasmic vesicle. Early endosome. Golgi apparatus. Note=Colocalizes on endosomes partially with EEA1 (PubMed:16923123). Colocalizes and cotransports on motile vesicles with ANK2 (By similarity). {ECO:0000250 UniProtKB:A6H6A9, ECO:0000269 PubMed:16923123}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RABGAP1L gene
Compartment Confidence
nucleus 5
golgi apparatus 5
endosome 5
cytosol 4
plasma membrane 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RABGAP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16923123
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA 16923123
GO:0005794 Golgi apparatus IDA 16923123
GO:0005929 cilium IDA --
genes like me logo Genes that share ontologies with RABGAP1L: view

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:0006810 transport IEA --
GO:0006886 intracellular protein transport IBA --
GO:0006897 endocytosis IEA --
GO:0007049 cell cycle IEA --
GO:0015031 protein transport IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RABGAP1L Gene



Protein tissue co-expression partners for RABGAP1L Gene

NURSA nuclear receptor signaling pathways regulating expression of RABGAP1L Gene:

RABGAP1L

SOURCE GeneReport for Unigene cluster for RABGAP1L Gene:

Hs.585378

Evidence on tissue expression from TISSUES for RABGAP1L Gene

  • Nervous system(3.8)
  • Heart(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with RABGAP1L: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia RABGAP1L 33
  • 94.08 (n)
-- 34
  • 93 (a)
OneToMany
-- 34
  • 14 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rabgap1l 33
  • 90.18 (n)
mouse
(Mus musculus)
Mammalia Rabgap1l 33 16 34
  • 89.9 (n)
cow
(Bos Taurus)
Mammalia RABGAP1L 34
  • 89 (a)
OneToMany
MGC157043 34
  • 26 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RABGAP1L 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RABGAP1L 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves RABGAP1L 33 34
  • 78.46 (n)
lizard
(Anolis carolinensis)
Reptilia RABGAP1L 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11038 33
African clawed frog
(Xenopus laevis)
Amphibia MGC52980 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-197g15.12 33
  • 68.66 (n)
RABGAP1L 34
  • 55 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7301 33
fruit fly
(Drosophila melanogaster)
Insecta CG7112 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-11 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToMany
Species where no ortholog for RABGAP1L was found in the sources mined by GeneCards:
  • 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

(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 Variation AA Info Type
rs1000004396 -- 174,528,035(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000009470 -- 174,293,943(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000013708 -- 174,833,152(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000015150 -- 174,609,797(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000015983 -- 174,776,761(+) A/G genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv119e212 CNV loss 25503493
dgv16n17 CNV loss 16327808
dgv24n111 CNV deletion 26073780
dgv43n27 CNV loss 19166990
dgv61e214 CNV loss 21293372
dgv631n54 CNV loss 21841781
dgv632n54 CNV loss 21841781
dgv633n54 CNV loss 21841781
dgv634n54 CNV loss 21841781
dgv635n54 CNV loss 21841781
dgv636n54 CNV loss 21841781
dgv80e199 CNV deletion 23128226
dgv88n67 CNV loss 20364138
esv1344689 CNV insertion 17803354
esv2544302 CNV deletion 19546169
esv2632719 CNV insertion 19546169
esv26467 CNV loss 19812545
esv2659714 CNV deletion 23128226
esv2663655 CNV deletion 23128226
esv2663855 CNV deletion 23128226
esv2675954 CNV deletion 23128226
esv2719573 CNV deletion 23290073
esv2719585 CNV deletion 23290073
esv274970 CNV gain+loss 21479260
esv2758979 CNV gain 17122850
esv2762198 CNV loss 21179565
esv2763725 CNV loss 21179565
esv2764238 CNV loss 21179565
esv3305381 CNV mobile element insertion 20981092
esv3306824 CNV mobile element insertion 20981092
esv3308578 CNV mobile element insertion 20981092
esv3359248 CNV insertion 20981092
esv3381133 CNV insertion 20981092
esv3414606 CNV insertion 20981092
esv3542800 CNV deletion 23714750
esv3578275 CNV loss 25503493
esv3587955 CNV loss 21293372
esv3587956 CNV loss 21293372
esv3587957 CNV loss 21293372
esv3587960 CNV gain 21293372
esv3587961 CNV gain 21293372
esv3587964 CNV loss 21293372
esv3587965 CNV loss 21293372
esv3587966 CNV loss 21293372
esv3587967 CNV loss 21293372
esv3587968 CNV loss 21293372
esv3587971 CNV gain 21293372
esv3587972 CNV loss 21293372
esv3890771 CNV loss 25118596
nsv1001000 CNV gain 25217958
nsv1008993 CNV loss 25217958
nsv1009056 CNV loss 25217958
nsv1124599 CNV duplication 24896259
nsv1150629 CNV duplication 26484159
nsv438104 CNV loss 16468122
nsv442393 CNV loss 18776908
nsv465661 CNV loss 19166990
nsv465672 CNV loss 19166990
nsv470746 CNV loss 18288195
nsv474705 CNV novel sequence insertion 20440878
nsv477349 CNV novel sequence insertion 20440878
nsv512750 CNV insertion 21212237
nsv514019 CNV loss 21397061
nsv516953 CNV gain+loss 19592680
nsv528675 CNV loss 19592680
nsv548193 CNV loss 21841781
nsv548194 CNV loss 21841781
nsv548195 CNV loss 21841781
nsv548196 CNV loss 21841781
nsv548197 CNV loss 21841781
nsv548198 CNV loss 21841781
nsv548217 CNV loss 21841781
nsv818578 CNV gain+loss 17921354
nsv825442 CNV loss 20364138
nsv831937 CNV gain 17160897
nsv8547 CNV loss 18304495
nsv946510 CNV duplication 23825009
nsv947451 CNV deletion 23825009
nsv952241 CNV deletion 24416366
nsv954700 CNV deletion 24416366
nsv999295 CNV loss 25217958

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)

Additional Variant Information for RABGAP1L Gene

Human Gene Mutation Database (HGMD)
RABGAP1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RABGAP1L

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

Disorders for RABGAP1L Gene

UniProtKB/Swiss-Prot

RBG1L_HUMAN
  • Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269 PubMed:19184099}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Note=A chromosomal aberration involving RABGAP1L has been found in bone marrow cells from a child with leukemia, acute myelogenous. Translocation der(Y)t(Y;1)(q12;q25). The breakpoint at 1q25 disrupts RABGAP1L. {ECO:0000269 PubMed:19184099}.

Additional Disease Information for RABGAP1L

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

No disorders were found for RABGAP1L Gene.

No data available for MalaCards and Genatlas for RABGAP1L Gene

Publications for RABGAP1L Gene

  1. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson JE … Couch FJ (Breast cancer research and treatment 2011) 3 44 58
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity. (PMID: 16923123) Itoh T … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2006) 3 4 58

Products for RABGAP1L Gene

Sources for RABGAP1L Gene

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