ABCA3

ABCA3
Identifiers
Aliases	ABCA3, ATP-binding cassette, sub-family A (ABC1), member 3, ABC-C, ABC3, EST111653, LBM180, SMDP3, ATP binding cassette subfamily A member 3
External IDs	OMIM: 601615 MGI: 1351617 HomoloGene: 37437 GeneCards: ABCA3
Gene location (Human)
Chr.	Chromosome 16 (human)
End	2,340,746 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	24,629,175 bp
RNA expression pattern
	Top expressed in
	lower lobe of lung; ; upper lobe of lung; ; upper lobe of left lung; ; frontal pole; ; prefrontal cortex; ; inferior olivary nucleus; ; middle temporal gyrus; ; Brodmann area 10; ; middle frontal gyrus; ; Brodmann area 9;
	Top expressed in
	left lung lobe; ; right lung; ; right lung lobe; ; kidney; ; facial motor nucleus; ; trigeminal ganglion; ; olfactory epithelium; ; prostate; ; motor neuron; ; fossa;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ATPase-coupled transmembrane transporter activity; nucleotide binding; ATPase activity; ATP binding; transporter activity; lipid transporter activity;
Cellular component	lamellar body membrane; integral component of membrane; plasma membrane; membrane; alveolar lamellar body membrane; alveolar lamellar body; extracellular space; intracellular membrane-bounded organelle;
Biological process	lipid transport; response to glucocorticoid; transmembrane transport; transport;
	Sources:Amigo / QuickGO
Orthologs
	21
	27410
	ENSG00000167972
	ENSMUSG00000024130
	Q99758
	Q8R420
	NM_001089
	NM_001039581; NM_013855
	NP_001080
	NP_001034670; NP_038883
	Wikidata
View/Edit Human	View/Edit Mouse

ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.^[5]^[6]

Template:PBB Summary

Clinical significance

Mutations in ABCA3 are associated to Template:SWL.^[7]

It is associated with Surfactant metabolism dysfunction type 3.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000167972 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024130 – 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.
^ Klugbauer N, Hofmann F (Sep 1996). "Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein". FEBS Lett. 391 (1–2): 61–5. doi:10.1016/0014-5793(96)00700-4. PMID 8706931.
^ "Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3".
^ Chen, P; Dai, Y; Wu, X; Wang, Y; Sun, S; Xiao, J; Zhang, Q; Guan, L; Zhao, X; Hao, X; Wu, R; Xie, L (2014). "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome". Investigative Ophthalmology & Visual Science. 55: 8031–43. doi:10.1167/iovs.14-14098. PMID 25406294.

External links

ABCA3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
ABCA3 human gene location in the UCSC Genome Browser.
ABCA3 human gene details in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000167972 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024130 – 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.

[pmid8706931-5] Klugbauer N, Hofmann F (Sep 1996). "Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein". FEBS Lett. 391 (1–2): 61–5. doi:10.1016/0014-5793(96)00700-4. PMID 8706931.

[entrez-6] "Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3".

[7] Chen, P; Dai, Y; Wu, X; Wang, Y; Sun, S; Xiao, J; Zhang, Q; Guan, L; Zhao, X; Hao, X; Wu, R; Xie, L (2014). "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome". Investigative Ophthalmology & Visual Science. 55: 8031–43. doi:10.1167/iovs.14-14098. PMID 25406294.

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v t e Membrane proteins, carrier proteins: membrane transport proteins ABC transporter (TC 3A1)
A	A1 A2 A3 A4 A7 A8 A12 A13
B	B1 B2-3 (B2 B3) B4 B5 B6 B7 B9 B11
C	C1 C2 C3 C4 C5 C6 C7 C8-9 (C8, C9) C10 C11 C13
D	D1 D2 D3 D4
E	E1
F	F1 F2
G	G1 G2 G4 Sterolin (G5, G8)
see also ABC transporter disorders

ABCA3

Clinical significance

See also

References

Further reading

External links