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ABCA13 - ATP binding cassette subfamily A member 13 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 154664

About ABCA13

Cytogenetic location: 7p12.3 Genomic coordinates (GRCh38): 7:48,171,458-48,647,497 (from NCBI)

This gene has 8 transcripts (splice variants), 118 orthologues and 11 paralogues. Biased expression in bone marrow (RPKM 8.6) and thyroid (RPKM 0.4).

Summary

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]

ABCA13 Products (1)

mRNA	Protein	Name
NM_152701.5	NP_689914.3	ATP-binding cassette sub-family A member 13

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of cholesterol transport	IDA IDA: Inferred from direct assay	33478937	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in intracellular vesicle	IDA IDA: Inferred from direct assay	33478937	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCA13 Protein Structure

ABC2_membrane_3

ABC_tran

ABC2_membrane_3

ABC_tran

0
800
1600
2400
3200
4000
4800
5058 a.a.

Protein Preferred Names	Protein Names
ATP-binding cassette sub-family A member 13	ATP binding cassette transporter A13

Related Diseases

Diseases	Alias
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Nephrotic Syndrome, Type 4	NPHS4 Nephrotic Syndrome Type 4 Nephrotic Syndrome 4 Isolated Diffuse Mesangial Sclerosis
Hypoalphalipoproteinemia, Primary, 1	Familial Hdl Deficiency Fha High Density Lipoprotein Deficiency Familial Hypoalphalipoproteinemia Hypoalphalipoproteinemia, Familial Hdld Fhd Hdl Deficiency, Type 2 Primary Hypoalphalipoproteinemia 1 Hdl Cholesterol, Low Serum Hdlc Hdl Deficiency, Familial, 1 Hypoalphalipoproteinemia, Primary Low Serum Hdl Cholesterol Primary Hypoalphalipoproteinemia FHA1 Hdld2 High Density Lipoprotein Deficiency 2 Hypoalphalipoproteinemias Apolipoprotein A-I Deficiency
Astigmatism
Tangier Disease	Analphalipoproteinemia High Density Lipoprotein Deficiency, Tangier Type TGD High Density Lipoprotein Deficiency, Type 1 Hdldt1 Familial High Density Lipoprotein Deficiency A-Alphalipoprotein Neuropathy Alpha High Density Lipoprotein Deficiency Disease Cholesterol Thesaurismosis Familial High Density Lipoprotein Deficiency Disease Hdl Lipoprotein Deficiency Disease Tangier Disease Neuropathy Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency 1 Primary Hypoalphalipoproteinemia 1 Analphalipo-Proteinemia Familial Hypoalphalipo-Proteinemia Familial Hypoalphalipoproteinemia Lipoprotein Deficiency Disease, Hdl, Familial Tangier Hereditary Neuropathy Atp-Binding Cassette Transporter A1 Deficiency Hdld1 High Density Lipoprotein Deficiency 1 Tangier Disease, Variant Hypoalphalipoproteinemia, Familial Familial Hdl Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00040	ABCA13 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABCA13	VGNC	VGNC:69402
Rattus norvegicus	ABCA13	RGD	RGD:1305895
Felis catus	ABCA13	VGNC	VGNC:59463
Bos taurus	ABCA13	VGNC	VGNC:59317
Canis familiaris	ABCA13	VGNC	VGNC:37424
Mus musculus	ABCA13	MGD	MGI:2388707
Others	ABCA13	NCBI