Common Name:	ABCA13
HGNC Symbol:	ABCA13
HGNC Description:	ATP-binding cassette, sub-family A (ABC1), member 13
HGNC ID:	14638
Chromosome:	Chr.7(+): 48208389-48657637
Location:	7p12.3
OMIM:	607807
OMIM Phenotype:	None
Accessions:	AY204751
Nucleotide RefSeq:	NM_152701
Protein RefSeq:	NP_689914
Entrez:	154664
Isoforms:	1
Evidence:	Substrate In Vivo Evidence: 1. Largest ABC protein to date (5058 aa, 62 exons). 7p12.3 contains a locus associated with an inherited disorder affecting the pancreas and a locus involved in T-cell tumor invasion and metastasis. Prades, C et al. Cytogenet Genome Res 2002, 98(2-3):160-8 PMID 12697998. 2. Mouse Abca13 mRNA isolated from kidney. Analysis of promoter region revealed potential transcription factor binding sites associated with myeloid- and lymphoid-derived cell types. Gene 2003 Mar 27, 307:191-200 PMID 12706902. Tissue Distribution Evidence: 1. Highest expression in human trachea, testis, and bone marrow. High expression also detected in leukemia, CNS tumor, and prostate tumor cell lines. Prades, C et al. Cytogenet Genome Res 2002, 98(2-3):160-8 PMID 12697998. 2. RNA dot blots showed that mouse Abca13 mRNA transcript levels were highest in mouse submaxillary gland, epididymus, ovary, and thymus. Barros, SA; Tennant, RW; Cannon RE. Gene 2003 Mar 27, 307:191-200 PMID 12706902.
Tissues:	trachae, testis, bone marrow (cell lines: leukemia, CNS tumor, prostate tumor)
Type:	protein coding
Sets:	0
PharmGKB ID:	PA134925234
HPRD ID:	07422
Substrates:	unknown
Trivial Names:	FLJ16398, FLJ33876, FLJ33951, DKFZp313D2411
Transcripts:	NM_152701 [Chr.7(+): 48208389-48657637]

ABCA13 Resequencing

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.