U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 200894, updated on 27-May-2024

    Summary

    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; AllianceGenome:HGNC:25419
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.4), lung (RPKM 4.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARL13B in Genome Data Viewer
    Location:
    3q11.1-q11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (93980155..94055678)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (96678283..96754130)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (93698999..93774522)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protein S Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 17 Neighboring gene Sharpr-MPRA regulatory region 12381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20123 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 ATAC-STARR-seq lymphoblastoid active region 20124 Neighboring gene dihydrofolate reductase 2 Neighboring gene NOP2/Sun RNA methyltransferase 3 Neighboring gene RBBP4 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in formation of radial glial scaffolds ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interneuron migration from the subpallium to the cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in left/right axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tube patterning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in non-motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in receptor localization to non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in axoneme IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in ciliary membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ciliary membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5017..80540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001174150.2NP_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, BC062993, BC104036
      Consensus CDS
      CCDS2925.1
      UniProtKB/Swiss-Prot
      D3DN29, G3V1S8, Q3SXY8, Q504W8, Q8TCL5
      UniProtKB/TrEMBL
      B4DLH1
      Related
      ENSP00000377769.3, ENST00000394222.8
      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_001174151.2NP_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/TrEMBL
      A0A7P0Z4M2
      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_001321328.2NP_001308257.1  ADP-ribosylation factor-like protein 13B isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC130896, CR936753, CR936763
      UniProtKB/TrEMBL
      A0A7P0T9C1
      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_001410782.1NP_001397711.1  ADP-ribosylation factor-like protein 13B isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC117474, AC130896
      Consensus CDS
      CCDS93326.1
      UniProtKB/TrEMBL
      A0A7P0Z473
      Related
      ENSP00000505396.1, ENST00000679587.1
    5. NM_144996.4NP_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, BC094725
      Consensus CDS
      CCDS2924.1
      UniProtKB/TrEMBL
      A0A7P0Z4M2
      Related
      ENSP00000306225.7, ENST00000303097.11
      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
    6. NM_182896.3NP_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, AC130896, BC031093, BC094725
      Consensus CDS
      CCDS2925.1
      UniProtKB/Swiss-Prot
      D3DN29, G3V1S8, Q3SXY8, Q504W8, Q8TCL5
      UniProtKB/TrEMBL
      B4DLH1
      Related
      ENSP00000420780.1, ENST00000471138.5
      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_033427.2 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, AK299284, BC094725
      Related
      ENST00000460371.5
    2. NR_135621.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC130896, CR936753, CR936756, CR936763
      Related
      ENST00000680994.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      93980155..94055678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512533.3XP_011510835.1  ADP-ribosylation factor-like protein 13B isoform X1

      See identical proteins and their annotated locations for XP_011510835.1

      UniProtKB/TrEMBL
      A0A7P0T9C1
      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
    2. XM_011512535.3XP_011510837.1  ADP-ribosylation factor-like protein 13B isoform X3

      UniProtKB/TrEMBL
      A0A7P0T892, A0A7P0T9C1
      Related
      ENSP00000505036.1, ENST00000681655.1
      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
    3. XM_006713532.4XP_006713595.1  ADP-ribosylation factor-like protein 13B isoform X2

      See identical proteins and their annotated locations for XP_006713595.1

      UniProtKB/TrEMBL
      A0A7P0T9C1
      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. XM_017005853.2XP_016861342.1  ADP-ribosylation factor-like protein 13B isoform X4

      UniProtKB/TrEMBL
      A0A7P0Z4M2
      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_011512532.3XP_011510834.1  ADP-ribosylation factor-like protein 13B isoform X1

      See identical proteins and their annotated locations for XP_011510834.1

      UniProtKB/TrEMBL
      A0A7P0T9C1
      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_047447661.1XP_047303617.1  ADP-ribosylation factor-like protein 13B isoform X5

      UniProtKB/TrEMBL
      A0A7P0T933
      Related
      ENSP00000505366.1, ENST00000486562.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      96678283..96754130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345621.1XP_054201596.1  ADP-ribosylation factor-like protein 13B isoform X1

    2. XM_054345624.1XP_054201599.1  ADP-ribosylation factor-like protein 13B isoform X3

      UniProtKB/TrEMBL
      A0A7P0T892
    3. XM_054345623.1XP_054201598.1  ADP-ribosylation factor-like protein 13B isoform X2

    4. XM_054345625.1XP_054201600.1  ADP-ribosylation factor-like protein 13B isoform X4

    5. XM_054345622.1XP_054201597.1  ADP-ribosylation factor-like protein 13B isoform X1

    6. XM_054345626.1XP_054201601.1  ADP-ribosylation factor-like protein 13B isoform X5

      UniProtKB/TrEMBL
      A0A7P0T933