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Aliases for ARL13A Gene

Aliases for ARL13A Gene

  • ADP Ribosylation Factor Like GTPase 13A 2 3 5
  • ADP-Ribosylation Factor-Like 13 2 3
  • ADP-Ribosylation Factor-Like Protein 13A 3
  • ADP-Ribosylation Factor Like GTPase 13A 2
  • ADP-Ribosylation Factor-Like 13A 3
  • DJ341D10.2 3
  • ARL13 3

External Ids for ARL13A Gene

Previous HGNC Symbols for ARL13A Gene

  • ARL13

Previous GeneCards Identifiers for ARL13A Gene

  • GC0XP100035
  • GC0XP100111
  • GC0XP100224
  • GC0XP090022

Summaries for ARL13A Gene

GeneCards Summary for ARL13A Gene

ARL13A (ADP Ribosylation Factor Like GTPase 13A) is a Protein Coding gene. Diseases associated with ARL13A include Meckel Syndrome, Type 1 and Joubert Syndrome 1. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is ARL13B.

Additional gene information for ARL13A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARL13A Gene

Genomics for ARL13A Gene

GeneHancer (GH) Regulatory Elements for ARL13A Gene

Promoters and enhancers for ARL13A 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
GH0XI100969 Promoter 0.5 EPDnew 550.8 +0.6 649 0.1 ARL13A NOX1 TRMT2B
GH0XI101383 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 13.1 +416.3 416310 3.6 HDGF HDAC1 PKNOX1 SMAD1 ZNF473 NFRKB IRF4 POLR2B EGR1 ETV6 BTK ARMCX4 ARL13A GLA BEX5 ARMCX3 TIMM8A
GH0XI101390 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.7 +422.9 422909 3.4 HNRNPUL1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 RPL36A BTK RPL36A-HNRNPH2 ARMCX4 ARMCX2 ARL13A ZMAT1 GLA CENPI PPIAP90
GH0XI101616 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 14.8 +648.6 648636 1.8 ATF1 DMAP1 RAD21 YY1 CREM EGR2 ZBTB11 USF2 REST KAT8 ARMCX6 ARL13A ARMCX3 GC0XM101605
GH0XI100409 Promoter 1.5 EPDnew Ensembl 11 -558.6 -558640 1.2 ZNF777 ZBTB6 SUZ12 ZNF449 ZNF133 ZNF335 CTBP1 POLR2A ZNF600 ZBTB20 PCDH19 ARL13A PIR46293
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARL13A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARL13A gene promoter:

Genomic Locations for ARL13A Gene

Genomic Locations for ARL13A Gene
chrX:100,969,040-100,990,831
(GRCh38/hg38)
Size:
21,792 bases
Orientation:
Plus strand
chrX:100,224,697-100,245,820
(GRCh37/hg19)

Genomic View for ARL13A Gene

Genes around ARL13A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARL13A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARL13A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARL13A Gene

Proteins for ARL13A Gene

  • Protein details for ARL13A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5H913-AR13A_HUMAN
    Recommended name:
    ADP-ribosylation factor-like protein 13A
    Protein Accession:
    Q5H913
    Secondary Accessions:
    • B2RTT6
    • B4DX50

    Protein attributes for ARL13A Gene

    Size:
    290 amino acids
    Molecular mass:
    33003 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI42661.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ARL13A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARL13A Gene

Post-translational modifications for ARL13A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARL13A Gene

No data available for DME Specific Peptides for ARL13A Gene

Domains & Families for ARL13A Gene

Gene Families for ARL13A Gene

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

Protein Domains for ARL13A Gene

Suggested Antigen Peptide Sequences for ARL13A Gene

Graphical View of Domain Structure for InterPro Entry

Q5H913

UniProtKB/Swiss-Prot:

AR13A_HUMAN :
  • Belongs to the small GTPase superfamily. Arf family.
Family:
  • Belongs to the small GTPase superfamily. Arf family.
genes like me logo Genes that share domains with ARL13A: view

Function for ARL13A Gene

Phenotypes From GWAS Catalog for ARL13A Gene

Gene Ontology (GO) - Molecular Function for ARL13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with ARL13A: view

Phenotypes for ARL13A Gene

genes like me logo Genes that share phenotypes with ARL13A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ARL13A Gene

Localization for ARL13A Gene

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 ARL13A gene
Compartment Confidence
extracellular 2
mitochondrion 2
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ARL13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with ARL13A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ARL13A Gene

Pathways & Interactions for ARL13A Gene

SuperPathways for ARL13A Gene

No Data Available

Interacting Proteins for ARL13A Gene

Gene Ontology (GO) - Biological Process for ARL13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
genes like me logo Genes that share ontologies with ARL13A: view

No data available for Pathways by source and SIGNOR curated interactions for ARL13A Gene

Drugs & Compounds for ARL13A Gene

No Compound Related Data Available

Transcripts for ARL13A Gene

mRNA/cDNA for ARL13A Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ARL13A Gene

ADP-ribosylation factor-like 13A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARL13A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
SP1:
SP2: - - -
SP3:

Relevant External Links for ARL13A Gene

GeneLoc Exon Structure for
ARL13A
ECgene alternative splicing isoforms for
ARL13A

Expression for ARL13A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARL13A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARL13A Gene

This gene is overexpressed in Testis (x31.9).

Protein differential expression in normal tissues from HIPED for ARL13A Gene

This gene is overexpressed in Liver, secretome (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ARL13A Gene



Protein tissue co-expression partners for ARL13A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARL13A Gene:

ARL13A

SOURCE GeneReport for Unigene cluster for ARL13A Gene:

Hs.147237

Evidence on tissue expression from TISSUES for ARL13A Gene

  • Lung(2.4)
genes like me logo Genes that share expression patterns with ARL13A: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARL13A Gene

Orthologs for ARL13A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARL13A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARL13A 34 33
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARL13A 33
  • 82.2 (n)
rat
(Rattus norvegicus)
Mammalia Arl13a 33
  • 77.42 (n)
mouse
(Mus musculus)
Mammalia Arl13a 34 16 33
  • 75.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARL13A 33 34
  • 74.66 (n)
chicken
(Gallus gallus)
Aves ARL13A 34
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARL13A 34
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii arl13a 34
  • 20 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17819 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y54E10BR.2 34
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARL3 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
OneToMany
Species where no ortholog for ARL13A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ARL13A Gene

ENSEMBL:
Gene Tree for ARL13A (if available)
TreeFam:
Gene Tree for ARL13A (if available)

Paralogs for ARL13A Gene

Paralogs for ARL13A Gene

(4) SIMAP similar genes for ARL13A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ARL13A: view

Variants for ARL13A Gene

Sequence variations from dbSNP and Humsavar for ARL13A Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000276878 -- 100,979,954(+) TCTCTCTCTCT/TCTCTCTCTCTCT intron_variant
rs1000497083 -- 100,969,027(+) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000608013 -- 100,976,532(+) C/T intron_variant
rs1001309376 -- 100,989,917(+) G/A genic_downstream_transcript_variant, intron_variant
rs1001361451 -- 100,989,386(+) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARL13A Gene

Variant ID Type Subtype PubMed ID
nsv515758 CNV gain 19592680
nsv517937 CNV gain 19592680
nsv7012 CNV insertion 18451855

Variation tolerance for ARL13A Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.49; 55.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARL13A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARL13A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARL13A Gene

Disorders for ARL13A Gene

MalaCards: The human disease database

(2) MalaCards diseases for ARL13A Gene - From: DISEASES

Disorder Aliases PubMed IDs
meckel syndrome, type 1
  • mks1
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARL13A

genes like me logo Genes that share disorders with ARL13A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARL13A Gene

Publications for ARL13A Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for ARL13A Gene

Sources for ARL13A Gene

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