VPS13A

Last updated
VPS13A
Identifiers
Aliases VPS13A , CHAC, CHOREIN, vacuolar protein sorting 13 homolog A
External IDs OMIM: 605978 MGI: 2444304 HomoloGene: 22068 GeneCards: VPS13A
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001018037
NM_001018038
NM_015186
NM_033305

NM_173028

RefSeq (protein)

NP_001018047
NP_001018048
NP_056001
NP_150648

NP_766616

Location (UCSC) Chr 9: 77.18 – 77.42 Mb Chr 19: 16.59 – 16.76 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

VPS13A (Vacuolar protein sorting-associated protein 13A) is a protein that in humans is encoded by the VPS13A gene. [5] [6] [7]

Contents

Function

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [7]

Related Research Articles

<span class="mw-page-title-main">Chorea-acanthocytosis</span> Rare autosomal recessive genetic condition

Chorea-acanthocytosis is a rare hereditary disease caused by a mutation in a gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes.

<span class="mw-page-title-main">Acanthocyte</span> Abnormal red blood cell with a spiked cell membrane

Acanthocyte, in biology and medicine, refers to an abnormal form of red blood cell that has a spiked cell membrane, due to thorny projections. A similar term is spur cells. Often they may be confused with echinocytes or schistocytes.

Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes.

XK is a protein found on human red blood cells and other tissues which is responsible for the Kx antigen which helps determine a person's blood type.

<span class="mw-page-title-main">McLeod syndrome</span> Medical condition

McLeod syndrome is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It is caused by a variety of recessively inherited mutations in the XK gene on the X chromosome. The gene is responsible for producing the Kx protein, a secondary supportive protein for the Kell antigen on the red blood cell surface.

<span class="mw-page-title-main">VPS13B</span> Protein-coding gene in the species Homo sapiens


Intermembrane lipid transfer protein VPS13B, also known as vacuolar protein sorting-associated 13B, and Cohen syndrome protein 1 is a protein that in humans is encoded by the VPS13B gene. It is a giant protein associated with the Golgi apparatus that is believed to be involved in post-Golgi apparatus sorting and trafficking. Mutations in the human VPS13B gene cause Cohen syndrome.

<span class="mw-page-title-main">ATP6V1B1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit B, kidney isoform is an enzyme that in humans is encoded by the ATP6V1B1 gene.

<span class="mw-page-title-main">MYOT</span> Mammalian protein found in Homo sapiens

Myotilin is a protein that in humans is encoded by the MYOT gene. Myotilin also known as TTID is a muscle protein that is found within the Z-disc of sarcomeres.

<span class="mw-page-title-main">ATPase, H+ transporting, lysosomal V0 subunit a1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase 116 kDa subunit a isoform 1 is an enzyme that in humans is encoded by the ATP6V0A1 gene.

<span class="mw-page-title-main">ATP6V1A</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase catalytic subunit A is an enzyme that in humans is encoded by the ATP6V1A gene.

<span class="mw-page-title-main">ATP6V0D1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit d 1 is an enzyme that in humans is encoded by the ATP6V0D1 gene.

<span class="mw-page-title-main">ATP6V1D</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit D is an enzyme that in humans is encoded by the ATP6V1D gene.

<span class="mw-page-title-main">ATP6V1F</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit F is an enzyme that in humans is encoded by the ATP6V1F gene.

<span class="mw-page-title-main">ATP6V0E1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase subunit e 1 is an enzyme that in humans is encoded by the ATP6V0E1 gene.

<span class="mw-page-title-main">KDM3B</span> Protein-coding gene in the species Homo sapiens

Lysine-specific demethylase 3B is an enzyme that in humans is encoded by the KDM3B gene. KDM3B belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily.

<span class="mw-page-title-main">SBF2</span> Protein-coding gene in the species Homo sapiens

Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.

<span class="mw-page-title-main">VPS33B</span> Protein-coding gene in the species Homo sapiens

Vacuolar protein sorting-associated protein 33B is a protein that in humans is encoded by the VPS33B gene.

<span class="mw-page-title-main">Dyslexia-associated protein</span> Protein and coding gene in humans

Dyslexia-associated protein KIAA0319 is a protein which in humans is encoded by the KIAA0319 gene.

<span class="mw-page-title-main">VPS13D</span> Protein-coding gene in the species Homo sapiens

Vacuolar protein sorting-associated protein 13D is a protein that in humans is encoded by the VPS13D gene.

<span class="mw-page-title-main">KCNC1</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily C member 1 is a protein that in humans is encoded by the KCNC1 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000197969 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000046230 - 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. Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP (Oct 1997). "Chorea-acanthocytosis: genetic linkage to chromosome 9q21". American Journal of Human Genetics. 61 (4): 899–908. doi:10.1086/514876. PMC   1715977 . PMID   9382101.
  6. Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP (Jun 2001). "A conserved sorting-associated protein is mutant in chorea-acanthocytosis". Nature Genetics. 28 (2): 119–20. doi:10.1038/88821. PMID   11381253. S2CID   2754015.
  7. 1 2 "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)".

Further reading