SPTBN5

SPTBN5
Identifiers
Aliases	SPTBN5 , BSPECV, HUBSPECV, HUSPECV, spectrin beta, non-erythrocytic 5
External IDs	OMIM: 605916 MGI: 2685200 HomoloGene: 41150 GeneCards: SPTBN5
Gene location (Human)
Chr.	Chromosome 15 (human)
End	41,894,053 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	119,916,159 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; cerebellar hemisphere; ; retinal pigment epithelium; ; skin of abdomen; ; left ventricle; ; right lobe of thyroid gland; ; right lobe of liver; ; trigeminal ganglion; ; left lobe of thyroid gland; ; minor salivary gland;
	Top expressed in
	esophagus; ; hypothalamus; ; muscle tissue; ; skeletal muscle tissue; ; quadriceps femoris muscle; ; lip; ; zone of skin; ; islet of Langerhans; ; ovary; ; white adipose tissue;
	More reference expression data
	n/a
Gene ontology
Molecular function	dynactin binding ; protein self-association ; kinesin binding ; myosin tail binding ; actin binding ; dynein intermediate chain binding ; spectrin binding ;
Cellular component	cytoplasm ; cytosol ; spectrin ; membrane ; photoreceptor connecting cilium ; photoreceptor disc membrane ; cytoskeleton ; microtubule organizing center ; filamentous actin ;
Biological process	Golgi organization ; MAPK cascade ; axon guidance ; endoplasmic reticulum to Golgi vesicle-mediated transport ; actin filament capping ; lysosomal transport ; protein homooligomerization ; actin cytoskeleton organization ;
	Sources:Amigo / QuickGO
Orthologs
	51332
	640524
	ENSG00000137877
	ENSMUSG00000074899
	Q9NRC6
	n/a
	NM_016642
	NM_001370938
	NP_057726
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 18, 2023

Spectrin, beta, non-erythrocytic 5 also known as SPTBN5 is a protein that in humans is encoded by the SPTBN5 gene.^[5] SPTBN5 belongs to the spectrin family of cytoskeletal proteins.

Structure and function

SPTBN5 contains the following domains:^[5]

actin-binding domain
membrane-association domain-1
self-association domain
C-terminal pleckstrin homology domain.

Based on these structural features it is thought that SPTBN5 is likely to form heterodimers and oligomers with alpha-spectrin and to interact directly with cellular membranes.^[5]

SPTBN5 is highly expressed in embryoid bodies.^[6]

Related Research Articles

Protein 4.1,, is a protein associated with the cytoskeleton that in humans is encoded by the EPB41 gene. Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Protein 4.1 interacts with spectrin and short actin filaments to form the erythrocyte membrane skeleton. Mutations of spectrin and protein 4.1 are associated with elliptocytosis or spherocytosis and anemia of varying severity.

Alpha-actinin-1 is a protein that in humans is encoded by the ACTN1 gene.

Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the SPTA1 gene.

Alpha II-spectrin, also known as Spectrin alpha chain, brain is a protein that in humans is encoded by the SPTAN1 gene. Alpha II-spectrin is expressed in a variety of tissues, and is highly expressed in cardiac muscle at Z-disc structures, costameres and at the sarcolemma membrane. Mutations in alpha II-spectrin have been associated with early infantile epileptic encephalopathy-5, and alpha II-spectrin may be a valuable biomarker for Guillain–Barré syndrome and infantile congenital heart disease.

Alpha-adducin is a protein that in humans is encoded by the ADD1 gene.

Spectrin beta chain, brain 1 is a protein that in humans is encoded by the SPTBN1 gene.

Beta-adducin is a protein that in humans is encoded by the ADD2 gene.

Guanine nucleotide-binding protein subunit beta-5 is a protein that in humans is encoded by the GNB5 gene. Alternatively spliced transcript variants encoding different isoforms exist.

Macrophage-stimulating protein (MSP), also known as hepatocyte growth factor-like protein, is a protein that in humans is encoded by the MST1 gene.

Transcription factor NF-E2 45 kDa subunit is a protein that in humans is encoded by the NFE2 gene.

Protein unc-13 homolog B is a protein that in humans is encoded by the UNC13B gene.

Guanine nucleotide-binding protein G(T) subunit gamma-T1 is a protein that in humans is encoded by the GNGT1 gene.

Receptor-type tyrosine-protein phosphatase N2 (R-PTP-N2) also known as islet cell autoantigen-related protein (ICAAR) and phogrin is an enzyme that in humans is encoded by the PTPRN2 gene. PTPRN and PTPRN2 are both found to be major autoantigens associated with insulin-dependent diabetes mellitus.

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 is a protein that in humans is encoded by the GNG3 gene.

Tyrosine-protein phosphatase non-receptor type 3 is an enzyme that in humans is encoded by the PTPN3 gene.

Spectrin beta chain, brain 2 is a protein that in humans is encoded by the SPTBN2 gene.

Spectrin, beta, non-erythrocytic 4, also known as SPTBN4, is a protein that in humans is encoded by the SPTBN4 gene.

Ankyrin 1, also known as ANK-1, and erythrocyte ankyrin, is a protein that in humans is encoded by the ANK1 gene.

Phosphatidylinositol 4-kinase type 2-beta is an enzyme that in humans is encoded by the PI4K2B gene.

Ankyrin-3 (ANK-3), also known as ankyrin-G, is a protein from ankyrin family that in humans is encoded by the ANK3 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000137877 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000074899 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 3 Stabach PR, Morrow JS (July 2000). "Identification and characterization of beta V spectrin, a mammalian ortholog of Drosophila beta H spectrin". J. Biol. Chem. 275 (28): 21385–95. doi: 10.1074/jbc.C000159200 . PMID 10764729.
↑ Chaerkady R, Kerr CL, Marimuthu A, Kelkar DS, Kashyap MK, Gucek M, Gearhart JD, Pandey A (January 2009). "Temporal analysis of neural differentiation using quantitative proteomics". J. Proteome Res. 8 (3): 1315–26. doi:10.1021/pr8006667. PMC 2693473 . PMID 19173612.

SPTBN5

Contents

Structure and function

Related Research Articles

References

Further reading