IFT140

IFT140
Identifiers
Aliases	IFT140, MZSDS, SRTD9, WDTC2, c305C8.4, c380F5.1, gs114, intraflagellar transport 140, RP80
External IDs	OMIM: 614620; MGI: 2146906; HomoloGene: 40979; GeneCards: IFT140; OMA:IFT140 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	1,612,072 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	25,318,469 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; left testis; ; right testis; ; ventricular zone; ; anterior pituitary; ; stromal cell of endometrium; ; olfactory zone of nasal mucosa; ; bronchial epithelial cell;
	Top expressed in
	fetal liver hematopoietic progenitor cell; ; spermatocyte; ; spermatid; ; seminiferous tubule; ; tibiofemoral joint; ; human fetus; ; blood; ; external carotid artery; ; internal carotid artery; ; medullary collecting duct;
	More reference expression data
	n/a
Gene ontology
Molecular function	molecular function; protein binding;
Cellular component	cytoplasm; ciliary basal body; centrosome; cell projection; photoreceptor outer segment; intraciliary transport particle A; photoreceptor connecting cilium; microtubule organizing center; ciliary tip; axoneme; cytoskeleton; cilium; non-motile cilium;
Biological process	renal system development; cilium assembly; limb morphogenesis; intraciliary transport; skeletal system morphogenesis; photoreceptor cell outer segment organization; neural tube patterning; regulation of smoothened signaling pathway; heart development; determination of left/right symmetry; cell projection organization; retina development in camera-type eye; protein localization to cilium; regulation of cilium assembly; intraciliary retrograde transport; embryonic camera-type eye development; intraciliary transport involved in cilium assembly; embryonic digit morphogenesis; embryonic cranial skeleton morphogenesis; non-motile cilium assembly; embryonic brain development;
	Sources:Amigo / QuickGO
Orthologs
	9742
	106633
	ENSG00000187535
	ENSMUSG00000024169
	Q96RY7
	E9PY46
	NM_014714
	NM_134126
	NP_055529
	NP_598887
	Wikidata
View/Edit Human	View/Edit Mouse

IFT140, Intraflagellar transport 140 homolog, is a protein that in humans is encoded by the IFT140 gene.

Clinical significance

Mutations in this gene have been associated to cases of skeletal ciliopathy.^[5]

Model organisms

Model organisms have been used in the study of IFT140 function. A conditional knockout mouse line called Ift140^{tm1a(KOMP)Wtsi} was generated at the Wellcome Trust Sanger Institute.^[6] Male and female animals underwent a standardized phenotypic screen^[7] to determine the effects of deletion.^[8]^[9]^[10]^[11] Additional screens performed: - In-depth immunological phenotyping^[12]

*Ift140* knockout mouse phenotype
Characteristic	Phenotype
All data available at.^[7]^[12]
Peripheral blood leukocytes 6 Weeks	Normal
Haematology 6 Weeks	Normal
Insulin	Normal
Homozygous viability at P14	Abnormal
Recessive lethal study	Abnormal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal
Influenza Challenge	Normal

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000187535 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024169 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C (May 2013). "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease". Human Mutation. 34 (5): 714–24. doi:10.1002/humu.22294. PMC 4226634. PMID 23418020.
^ 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.
^ ^a ^b "International Mouse Phenotyping Consortium".
^ 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.
^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ 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.
^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
^ ^a ^b "Infection and Immunity Immunophenotyping (3i) Consortium".

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000187535 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024169 – 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.

[pmid23418020-5] Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C (May 2013). "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease". Human Mutation. 34 (5): 714–24. doi:10.1002/humu.22294. PMC 4226634. PMID 23418020.

[mgp_reference-6] 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.

[IMPCsearch_ref-7] "International Mouse Phenotyping Consortium".

[pmid21677750-8] 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.

[mouse_library-9] Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-10] 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.

[pmid23870131-11] White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.

[iii_ref-12] "Infection and Immunity Immunophenotyping (3i) Consortium".

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