FUNDC1

FUN14 domain containing 1 is a protein that in humans is encoded by the FUNDC1 gene.[4]

FUNDC1
Identifiers
Aliases	FUNDC1, FUN14 domain containing 1
External IDs	OMIM: 300871 MGI: 1919268 HomoloGene: 41738 GeneCards: FUNDC1
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.3 Start 44,523,639 bp[1] End 44,542,859 bp[1]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • integral component of membrane • integral component of mitochondrial outer membrane • membrane • mitochondrion • mitochondrial outer membrane Biological process • autophagy • response to hypoxia • autophagy of mitochondrion • response to organonitrogen compound • macroautophagy Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	139341	72018
Ensembl	ENSG00000069509	n/a
UniProt	Q8IVP5	Q9DB70
RefSeq (mRNA)	NM_173794	NM_028058 NM_001313745 NM_001313746
RefSeq (protein)	NP_776155	NP_001300674 NP_001300675 NP_082334
Location (UCSC)	Chr X: 44.52 – 44.54 Mb	n/a
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Fundc1 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Salmonella infection	Normal[5]
Citrobacter infection	Normal[6]
All tests and analysis from[7][8]

Model organisms have been used in the study of FUNDC1 function. A conditional knockout mouse line, called Fundc1^{tm1a(KOMP)Wtsi}[9][10] 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 — at the Wellcome Trust Sanger Institute.[11][12][13]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][14] Twenty two tests were carried out on mutant mice, however no significant abnormalities were observed.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000069509 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Entrez Gene: FUN14 domain containing 1". Retrieved 2011-09-19.
5. "Salmonella infection data for Fundc1". Wellcome Trust Sanger Institute.
6. "Citrobacter infection data for Fundc1". Wellcome Trust Sanger Institute.
7. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
8. Mouse Resources Portal, Wellcome Trust Sanger Institute.
9. "International Knockout Mouse Consortium".
10. "Mouse Genome Informatics".
11. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
12. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
13. Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
14. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

Terracciano, A.; Sanna, S.; Uda, M.; Deiana, B.; Usala, G.; Busonero, F.; Maschio, A.; Scally, M.; Patriciu, N.; Chen, W. -M.; Distel, M. A.; Slagboom, E. P.; Boomsma, D. I.; Villafuerte, S.; Sliwerska, E.; Burmeister, M.; Amin, N.; Janssens, A. C. J. W.; Van Duijn, C. M.; Schlessinger, D.; Abecasis, G. R.; Costa Jr, P. T. (2008). "Genome-wide association scan for five major dimensions of personality". Molecular Psychiatry. 15 (6): 647–656. doi:10.1038/mp.2008.113. PMC 2874623. PMID 18957941.