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Arl6 Gene Detail
Summary
  • Symbol
    Arl6
  • Name
    ADP-ribosylation factor-like 6
  • Synonyms
    1110018H24Rik, 2210411E14Rik, BBS3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927136
    NCBI Gene: 56297
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:59433312-59459754 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 34.83 cM, cytoband C1.2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    908 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927136
 protein coding gene Chr16:59433312-59459772 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022932
 protein coding gene Chr16:58897089-58931021 (-)
A/J MGP_AJ_G0022900
 protein coding gene Chr16:56411114-56438061 (-)
AKR/J MGP_AKRJ_G0022870
 protein coding gene Chr16:58143103-58172550 (-)
BALB/cJ MGP_BALBcJ_G0022902
 protein coding gene Chr16:56546574-56573402 (-)
C3H/HeJ MGP_C3HHeJ_G0022664
 protein coding gene Chr16:58370663-58397279 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023350
 protein coding gene Chr16:60541317-60570998 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020853
 protein coding gene Chr16:55847782-55874088 (-)
CAST/EiJ MGP_CASTEiJ_G0022188
 protein coding gene Chr16:58649553-58678883 (-)
CBA/J MGP_CBAJ_G0022635
 protein coding gene Chr16:62977399-63009927 (-)
DBA/2J MGP_DBA2J_G0022767
 protein coding gene Chr16:56107616-56134672 (-)
FVB/NJ MGP_FVBNJ_G0022741
 protein coding gene Chr16:55818208-55845020 (-)
LP/J MGP_LPJ_G0022836
 protein coding gene Chr16:58705549-58734344 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022760
 protein coding gene Chr16:63352899-63380812 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023366
 protein coding gene Chr16:58247693-58277564 (-)
PWK/PhJ MGP_PWKPhJ_G0021930
 protein coding gene Chr16:56333435-56360341 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021760
 protein coding gene Chr16:57974829-58006666 (-)
WSB/EiJ MGP_WSBEiJ_G0022234
 protein coding gene Chr16:58281694-58309474 (-)



Homology
more
  • Human Ortholog
    ARL6, ARF like GTPase 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ARL6, ARF like GTPase 6
  • Synonyms
    BBS3, RP55
  • Links
    NCBI Gene ID: 84100
    neXtProt AC: NX_Q9H0F7
    UniProt: Q9H0F7

  • Chr Location
    3q11.2; chr3:97764521-97801242 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Arl6 mouse models; 4 with human ARL6 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    56 phenotypes from 2 alleles in 3 genetic backgrounds
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit retinal degeneration, male sterility due to absence of sperm flagella, increased body fat but no overt obesity, hydrocephalus, wide cranial sutures and a domed cranium. On a congenic background, homozygotes show neonatal lethality, congenital heart defects, cleft lip/palate, mid-facial hypoplasia, abnormal sphenoidal bones and premaxillary bones, a solitary central upper incisor, and defects in the development of cranial base midline structures.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    41
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    764
  • Tissues
    36
  • cDNA Data
    36
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022722 Ensembl Gene Model | MGI Sequence Detail 26443 C57BL/6J ±  kb
    transcript ENSMUST00000149797 Ensembl | MGI Sequence Detail 811 Not Applicable  
    polypeptide ENSMUSP00000123287 Ensembl | MGI Sequence Detail 194 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000004290 ADP-ribosylation factor-like protein 6
      (term hierarchy)
    • InterPro Domains
      IPR041839 ADP-ribosylation factor-like protein 6
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR006689 Small GTPase superfamily, ARF/SAR type
      IPR024156 Small GTPase superfamily, ARF type
      IPR005225 Small GTP-binding protein domain
    • GlyGen
      O88848 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 41
      cDNA 38
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1917645, MGI:1923557
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 12
      Phenotypes 7
    • Earliest
      J:62458 Ingley E, et al., A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61beta subunit. FEBS Lett. 1999 Oct 1;459(1):69-74
    • Latest
      J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/05/2024
    MGI 6.24     		The Jackson Laboratory