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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 1 and Joubert Syndrome 1. 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

Regulatory Elements for ARL13A Gene

Enhancers for ARL13A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH101383 1.2 FANTOM5 ENCODE 13.1 +416.3 416311 3 HDAC1 HDGF PKNOX1 TBL1XR1 ZNF473 NFRKB EGR1 ATF7 ETV6 RUNX3 ARMCX4 ARL13A GLA BTK BEX5 ARMCX3 TIMM8A
GH0XH101390 1.1 ENCODE 12.7 +422.9 422910 3 HNRNPUL1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 ZNF207 ARMCX4 ARMCX2 ARL13A RPL36A ZMAT1 GLA CENPI BEX5 RPL36A-HNRNPH2
GH0XH101616 0.8 ENCODE 14.8 +648.6 648636 1 GTF2F1 CTCF MXI1 ATF1 MAX DMAP1 RAD21 YY1 E2F1 ZFHX2 ARL13A ARMCX3 ARMCX6 GC0XM101605
GH0XH100979 1 Ensembl ENCODE 0.4 +11.6 11616 2 NFIB JUN E2F1 CTBP1 GATA3 FOSL2 FOS SMARCE1 RFX1 ZNF687 ARL13A TRMT2B
GH0XH100993 1.2 Ensembl ENCODE 0.3 +26.2 26176 4 PKNOX1 RAD21 BATF BRCA1 RFX5 TCF12 EGR1 RCOR1 FOS ATF7 TRMT2B XKRX ARL13A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARL13A on UCSC Golden Path with GeneCards custom track

Genomic Location for ARL13A Gene

Chromosome:
X
Start:
100,969,040 bp from pter
End:
100,990,831 bp from pter
Size:
21,792 bases
Orientation:
Plus strand

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

Clone Products

  • Applied Biological Materials Clones for ARL13A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Clone Products

  • Applied Biological Materials Clones for ARL13A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 34 33
  • 74.66 (n)
OneToOne
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 Sequence Context AA Info Type
rs1000276878 -- 100,979,953(+) TGGAG(-/TC)TCTCT intron-variant
rs1000497083 -- 100,969,027(+) ACTTT(A/G)GTTAA upstream-variant-2KB, utr-variant-5-prime
rs1000608013 -- 100,976,532(+) AGAAT(C/T)AACCT intron-variant
rs1001309376 -- 100,989,917(+) GGTGA(A/G)GATGA intron-variant
rs1001361451 -- 100,989,386(+) GCGGG(C/T)GGATC 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)

Relevant External Links 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 1
  • meckel syndrome
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ARL13A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 60
  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 60
  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 60

Products for ARL13A Gene

Sources for ARL13A Gene

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