ABCA13

Last updated
ABCA13
Identifiers
Aliases ABCA13 , ATP-binding cassette, sub-family A (ABC1), member 13, ATP binding cassette subfamily A member 13
External IDs OMIM: 607807 MGI: 2388707 HomoloGene: 27991 GeneCards: ABCA13
Orthologs
SpeciesHumanMouse
Entrez

154664

268379

Ensembl

ENSG00000179869

ENSMUSG00000004668

UniProt

Q86UQ4

Q5SSE9

RefSeq (mRNA)

NM_152701
NM_152555

NM_178259

RefSeq (protein)

NP_689914

NP_839990

Location (UCSC) Chr 7: 48.17 – 48.65 Mb Chr 11: 9.19 – 9.68 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-binding cassette sub-family A member 13 also known as ABCA13 is a protein that in humans is encoded by the ABCA13 gene on chromosome 7. [5] It belongs to the wide ATP-binding cassette family of proteins. The protein contains 5058 residues, and is currently the largest known protein of the ABC family. [6]

Contents

Clinical significance

One study suggests that rare variations and mutations of the gene may be linked to psychiatric disorders such as schizophrenia, bipolar disorder, and depression. [7]

Related Research Articles

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ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.

ABCA1

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ABCA4

ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene.

ABCG1 Mammalian protein found in Homo sapiens

ATP-binding cassette sub-family G member 1 is a protein that in humans is encoded by the ABCG1 gene. It is a homolog of the well-known Drosophila gene white.

ABCC5

Multidrug resistance-associated protein 5 is a protein that in humans is encoded by the ABCC5 gene.

ABCG8

ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ABCG8 gene.

ABCA2

ATP-binding cassette sub-family A member 2 is a protein that in humans is encoded by the ABCA2 gene.

IL18BP

Interleukin-18-binding protein is a protein that in humans is encoded by the IL18BP gene.

ABCA7

ATP-binding cassette sub-family A member 7 is a protein that in humans is encoded by the ABCA7 gene.

ABCA3

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

ABCB6

ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.

ABCD2

ATP-binding cassette sub-family D member 2 is a membrane pump/transporter protein that in humans is encoded by the ABCD2 gene.

ABCD4

ATP-binding cassette sub-family D member 4 is a protein that in humans is encoded by the ABCD4 gene.

ABCG4 Protein-coding gene in the species Homo sapiens

ATP-binding cassette sub-family G member 4 is a protein that in humans is encoded by the ABCG4 gene.

ABCA8

ATP-binding cassette sub-family A member 8 is a protein that in humans is encoded by the ABCA8 gene.

ABCB8

ATP-binding cassette sub-family B member 8, mitochondrial is a protein that in humans is encoded by the ABCB8 gene.

ATP11B

Probable phospholipid-transporting ATPase IF is an enzyme that in humans is encoded by the ATP11B gene.

ABCC12

Multidrug resistance-associated protein 9 is a protein that in humans is encoded by the ABCC12 gene.

ABCA9

ATP-binding cassette sub-family A member 9 is a protein that in humans is encoded by the ABCA9 gene.

ABCA5

ATP-binding cassette, sub-family A (ABC1), member 5 is a protein that in humans is encoded by the ABCA5 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000179869 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000004668 - 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.
  5. ↑ Prades C, Arnould I, Annilo T, Shulenin S, Chen ZQ, Orosco L, Triunfol M, Devaud C, Maintoux-Larois C, Lafargue C, Lemoine C, Denèfle P, Rosier M, Dean M (2002). "The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon". Cytogenetic and Genome Research. 98 (2–3): 160–8. doi:10.1159/000069852. PMID   12697998. S2CID   34262689.
  6. ↑ Vasiliou V, Vasiliou K, Nebert DW (April 2009). "Human ATP-binding cassette (ABC) transporter family". Human Genomics. 3 (3): 281–90. doi:10.1186/1479-7364-3-3-281. PMC   2752038 . PMID   19403462.
  7. ↑ Knight HM, Pickard BS, Maclean A, Malloy MP, Soares DC, McRae AF, Condie A, White A, Hawkins W, McGhee K, van Beck M, MacIntyre DJ, Starr JM, Deary IJ, Visscher PM, Porteous DJ, Cannon RE, St Clair D, Muir WJ, Blackwood DH (December 2009). "A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression". American Journal of Human Genetics. 85 (6): 833–46. doi:10.1016/j.ajhg.2009.11.003. PMC   2790560 . PMID   19944402.

Further reading

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