|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family A (ABC1), member 13|
|Is this an essential gene?||Probably non essential (E-score: 0.123)|
|Stock #||R0511 (G1)|
|Chromosomal Location||9191942-9684259 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 9294559 bp|
|Amino Acid Change||Valine to Leucine at position 2141 (V2141L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040465 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042740]|
|Predicted Effect||probably benign
AA Change: V2141L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V2141L
|Meta Mutation Damage Score||0.116|
|Coding Region Coverage||
|Validation Efficiency||100% (116/116)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abca13||
(F):5'- GGTCTTCAAAACACCACTGTGCAAC -3'
(R):5'- CTGGAAGCTGCTTCAGGAAATCCTC -3'
(F):5'- GTGCAACTTCCTCAACTTCTGG -3'
(R):5'- CGCGTGCTTCAAGATGAGATTC -3'
|Protein Function and Prediction|
Abca13 encodes ABCA13, a member of the ATP-binding cassette (ABC) transporter superfamily. The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations. ABCA13 has two transmembrane domains, each with six membrane-spanning segments, and two nucleotide-binding domains located in the cytoplasm. Due to ubiquitous expression of Abca13 in blood-derived cells, a role associated with hematopoiesis has been suggested for ABCA13. However, the exact function and substrates for ABCA13 remain to be deterimined.
ABCA13 is expressed at high levels in the trachea, testis, and bone marrow. In the mouse, PCR analysis detected Abca13 is expressed in the kidney and skeletal muscle.
ABCA13 was identified as a susceptibility factor for schizophrenia, bipolar disorder, and major depression. In humans, ABCA13 maps to chromosome 7p12.3, a region linked to Schwachman-Diamond syndrome, a genetic disorder affecting the pancreas, and a locus involved in T-cell tumor invasion and cancer metastasis. High levels of ABCA13 are found in leukemia, prostate tumor, and CNS tumor cell lines.