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    ARL13B ADP ribosylation factor like GTPase 13B [ Homo sapiens (human) ]

    Gene ID: 200894, updated on 8-Oct-2017
    Official Symbol
    ARL13Bprovided by HGNC
    Official Full Name
    ADP ribosylation factor like GTPase 13Bprovided by HGNC
    Primary source
    HGNC:HGNC:25419
    See related
    Ensembl:ENSG00000169379 MIM:608922; Vega:OTTHUMG00000159012
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JBTS8; ARL2L1
    Summary
    This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
    Orthologs
    Location:
    3q11.1-q11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (93980139..94055678)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (93698983..93774522)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protein S Neighboring gene RNA, U6 small nuclear 511, pseudogene Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 7 Neighboring gene syntaxin 19 Neighboring gene dihydrofolate reductase 2 Neighboring gene NOP2/Sun RNA methyltransferase family member 3 Neighboring gene RB binding protein 4 pseudogene 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • ARL13B-mediated ciliary trafficking of INPP5E, organism-specific biosystem (from REACTOME)
      ARL13B-mediated ciliary trafficking of INPP5E, organism-specific biosystemARL13B is a ciliary-localized small GTPase with an atypical C-terminus containing a coiled coil domain and a proline rich domain (PRD) (Hori et al, 2008). Mutations in ARL13B are associated with the ...
    • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
      Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
    • Cilium Assembly, organism-specific biosystem (from REACTOME)
      Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC120611, MGC120612, DKFZp761H079, DKFZp686E2075, DKFZp686L2472, DKFZp686M2074

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    formation of radial glial scaffolds ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    interneuron migration from the subpallium to the cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    left/right axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    neural tube patterning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    non-motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to lithium ion IEA
    Inferred from Electronic Annotation
    more info
     
    small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    axoneme IEA
    Inferred from Electronic Annotation
    more info
     
    ciliary membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cilium TAS
    Traceable Author Statement
    more info
     
    motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ADP-ribosylation factor-like protein 13B
    Names
    ADP-ribosylation factor-like 13B
    ADP-ribosylation factor-like 2-like 1
    ARL2-like protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017076.1 RefSeqGene

      Range
      5001..80540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001174150.1NP_001167621.1  ADP-ribosylation factor-like protein 13B isoform 1

      See identical proteins and their annotated locations for NP_001167621.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA775026, AC117474, BC062993, BC104036
      Consensus CDS
      CCDS2925.1
      UniProtKB/Swiss-Prot
      Q3SXY8
      Related
      ENSP00000377769.3, OTTHUMP00000213859, ENST00000394222.7, OTTHUMT00000352904
      Conserved Domains (2) summary
      cd04161
      Location:23189
      Arl2l1_Arl13_like; Arl2-like protein 1 (Arl2l1) and Arl13
      cl26557
      Location:198259
      RNase_E_G; Ribonuclease E/G family
    2. NM_001174151.1NP_001167622.1  ADP-ribosylation factor-like protein 13B isoform 3

      See identical proteins and their annotated locations for NP_001167622.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR, lacks an in-frame exon in the 5' coding region and uses a downstream start codon, compared to variant 1. The encoded isoform 3 has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AA775026, AC117474, AL713789
      Consensus CDS
      CCDS54615.1
      UniProtKB/Swiss-Prot
      Q3SXY8
      Related
      ENSP00000445145.1, ENST00000535334.5
      Conserved Domains (2) summary
      pfam04514
      Location:69230
      BTV_NS2; Bluetongue virus non-structural protein NS2
      cl21455
      Location:186
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. NM_001321328.1NP_001308257.1  ADP-ribosylation factor-like protein 13B isoform 4

      Status: REVIEWED

      Source sequence(s)
      BG705058, CR936753, CR936763
      Conserved Domains (3) summary
      cd04161
      Location:29174
      Arl2l1_Arl13_like; Arl2-like protein 1 (Arl2l1) and Arl13
      pfam04514
      Location:157318
      BTV_NS2; Bluetongue virus non-structural protein NS2
      pfam13900
      Location:226
      GVQW; Putative domain of unknown function
    4. NM_144996.3NP_659433.2  ADP-ribosylation factor-like protein 13B isoform 2

      See identical proteins and their annotated locations for NP_659433.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA775026, AC117474, BC094725
      Consensus CDS
      CCDS2924.1
      UniProtKB/Swiss-Prot
      Q3SXY8
      Related
      ENSP00000306225.7, OTTHUMP00000213855, ENST00000303097.11, OTTHUMT00000352900
      Conserved Domains (2) summary
      pfam04514
      Location:65226
      BTV_NS2; Bluetongue virus non-structural protein NS2
      cl21455
      Location:2182
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    5. NM_182896.2NP_878899.1  ADP-ribosylation factor-like protein 13B isoform 1

      See identical proteins and their annotated locations for NP_878899.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA775026, AC117474, AC130896, BC031093, BC094725
      Consensus CDS
      CCDS2925.1
      UniProtKB/Swiss-Prot
      Q3SXY8
      Related
      ENSP00000420780.1, OTTHUMP00000213858, ENST00000471138.5, OTTHUMT00000352903
      Conserved Domains (2) summary
      cd04161
      Location:23189
      Arl2l1_Arl13_like; Arl2-like protein 1 (Arl2l1) and Arl13
      cl26557
      Location:198259
      RNase_E_G; Ribonuclease E/G family

    RNA

    1. NR_033427.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 3' UTR and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA775026, AC117474, AK299284, BC094725
    2. NR_135621.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BG705058, CR936753, CR936756, CR936763
      Related
      ENST00000460371.5, OTTHUMT00000352908

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      93980139..94055678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512534.2XP_011510836.1  ADP-ribosylation factor-like protein 13B isoform X2

      See identical proteins and their annotated locations for XP_011510836.1

      Conserved Domains (3) summary
      cd04161
      Location:29174
      Arl2l1_Arl13_like; Arl2-like protein 1 (Arl2l1) and Arl13
      pfam04514
      Location:157318
      BTV_NS2; Bluetongue virus non-structural protein NS2
      pfam13900
      Location:226
      GVQW; Putative domain of unknown function
    2. XM_006713532.3XP_006713595.1  ADP-ribosylation factor-like protein 13B isoform X2

      See identical proteins and their annotated locations for XP_006713595.1

      Conserved Domains (3) summary
      cd04161
      Location:29174
      Arl2l1_Arl13_like; Arl2-like protein 1 (Arl2l1) and Arl13
      pfam04514
      Location:157318
      BTV_NS2; Bluetongue virus non-structural protein NS2
      pfam13900
      Location:226
      GVQW; Putative domain of unknown function
    3. XM_011512535.2XP_011510837.1  ADP-ribosylation factor-like protein 13B isoform X3

      Conserved Domains (2) summary
      cd04161
      Location:1164
      Arl2l1_Arl13_like; Arl2-like protein 1 (Arl2l1) and Arl13
      pfam04514
      Location:147308
      BTV_NS2; Bluetongue virus non-structural protein NS2
    4. XM_017005853.1XP_016861342.1  ADP-ribosylation factor-like protein 13B isoform X4

      UniProtKB/Swiss-Prot
      Q3SXY8
      Conserved Domains (2) summary
      pfam04514
      Location:69230
      BTV_NS2; Bluetongue virus non-structural protein NS2
      cl21455
      Location:186
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    5. XM_011512532.2XP_011510834.1  ADP-ribosylation factor-like protein 13B isoform X1

      See identical proteins and their annotated locations for XP_011510834.1

      Conserved Domains (2) summary
      cd04161
      Location:31177
      Arl2l1_Arl13_like; Arl2-like protein 1 (Arl2l1) and Arl13
      pfam04514
      Location:160321
      BTV_NS2; Bluetongue virus non-structural protein NS2
    6. XM_011512533.2XP_011510835.1  ADP-ribosylation factor-like protein 13B isoform X1

      See identical proteins and their annotated locations for XP_011510835.1

      Conserved Domains (2) summary
      cd04161
      Location:31177
      Arl2l1_Arl13_like; Arl2-like protein 1 (Arl2l1) and Arl13
      pfam04514
      Location:160321
      BTV_NS2; Bluetongue virus non-structural protein NS2

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      93662067..93737527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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