ARL4D

ADP-ribosylation factor-like protein 4D is a protein that in humans is encoded by the ARL4D gene.[5][6]

ARL4D
Identifiers
AliasesARL4D, ARF4L, ARL6, ADP ribosylation factor like GTPase 4D
External IDsOMIM: 600732 MGI: 1933155 HomoloGene: 1255 GeneCards: ARL4D
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q21.31Start43,398,993 bp[1]
End43,401,137 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

379

80981

Ensembl

ENSG00000175906

ENSMUSG00000034936

UniProt

P49703

Q99PE9

RefSeq (mRNA)

NM_001661

NM_025404

RefSeq (protein)

NP_001652

NP_079680

Location (UCSC)Chr 17: 43.4 – 43.4 MbChr 11: 101.67 – 101.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet–Biedl syndrome (BBS).[6]

Model organisms

Model organisms have been used in the study of ARL4D function. A conditional knockout mouse line, called Arl4dtm1a(EUCOMM)Wtsi[15][16] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[17][18][19]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[13][20] Twenty five tests were carried out on mutant mice and significant abnormalities were observed.[13] Homozygous mutant females had decreased bone mineral content, heart weight, lean body mass and CD8-positive, alpha-beta memory T cell number. Males had abnormal rib morphology with vertebral transformation. Both sexes displayed a reduction in dorsal third ventricle area and hippocampal area.[13]

References

  1. GRCh38: Ensembl release 89: ENSG00000175906 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000034936 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Smith SA, Holik PR, Stevens J, Melis R, White R, Albertsen H (Jul 1995). "Isolation and mapping of a gene encoding a novel human ADP-ribosylation factor on chromosome 17q12-q21". Genomics. 28 (1): 113–5. doi:10.1006/geno.1995.1115. PMID 7590735.
  6. "Entrez Gene: ARL4D ADP-ribosylation factor-like 4D".
  7. "DEXA data for Arl4d". Wellcome Trust Sanger Institute.
  8. "Radiography data for Arl4d". Wellcome Trust Sanger Institute.
  9. "Peripheral blood lymphocytes data for Arl4d". Wellcome Trust Sanger Institute.
  10. "Heart weight data for Arl4d". Wellcome Trust Sanger Institute.
  11. "Salmonella infection data for Arl4d". Wellcome Trust Sanger Institute.
  12. "Citrobacter infection data for Arl4d". Wellcome Trust Sanger Institute.
  13. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  14. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  15. "International Knockout Mouse Consortium".
  16. "Mouse Genome Informatics".
  17. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  18. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  19. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  20. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

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