Spectrin repeats
are found in several proteins involved in
cytoskeletal structure. These include
spectrin
Spectrin is a cytoskeletal protein that lines the intracellular side of the plasma membrane in eukaryotic cells. Spectrin forms pentagonal or hexagonal arrangements, forming a scaffold and playing an important role in maintenance of plasma memb ...
, alpha-
actinin
Actinin is a microfilament protein. Alpha-actinin-1 is necessary for the attachment of actin myofilaments to the Z-lines in skeletal muscle cells, and to the dense bodies in smooth muscle cells. The functional protein is an anti-parallel dimer ...
,
dystrophin
Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the cos ...
and more recently the
plakin A plakin is a protein that associates with junctional complexes and the cytoskeleton.
Types include desmoplakin, envoplakin, periplakin, plectin, dystonin, bullous pemphigoid antigen 1, corneodesmosin, and microtubule actin cross-linking factor.
R ...
family. The spectrin repeat forms a three-
helix bundle A helix bundle is a small protein fold composed of several alpha helices that are usually nearly parallel or antiparallel to each other.
Three-helix bundles
Three-helix bundles are among the smallest and fastest known cooperatively folding struct ...
. These conform to the rules of the
heptad repeat
The heptad repeat is an example of a structural motif that consists of a repeating pattern of seven amino acids:
''a b c d e f g''
H P P H C P C
where H represents hydrophobic residues, C represents, typically, charged residues, and P repres ...
. Spectrin repeats give rise to linear proteins. This however may be due to sample bias in which linear and rigid structures are more amenable to crystallization. There are hints however, that some proteins harbouring spectrin repeats may also be flexible. This is most likely due to specifically evolved functional purposes.
Human proteins containing this domain
ACTN1
Alpha-actinin-1 is a protein that in humans is encoded by the ''ACTN1'' gene.
Function
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins an ...
;
ACTN2
Alpha-actinin-2 is a protein which in humans is encoded by the ''ACTN2'' gene. This gene encodes an alpha-actinin isoform that is expressed in both skeletal and cardiac muscles and functions to anchor myofibrillar actin thin filaments and titin to ...
;
ACTN3
Alpha-actinin-3, also known as alpha-actinin skeletal muscle isoform 3 or F-actin cross-linking protein, is a protein that in humans is encoded by the ''ACTN3'' gene (named sprinter gene, speed gene or athlete gene) located on chromosome 11. All ...
;
ACTN4
Alpha-actinin-4 is a protein that in humans is encoded by the ''ACTN4'' gene.
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins ...
;
AKAP6
A-kinase anchor protein 6 is an enzyme that in humans is encoded by the ''AKAP6'' gene.
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of prot ...
;
SYNE3;
CATX-15;
DMD DMD may refer to:
Science and medicine
* Dimethyldioxirane, an organic molecule
* Doctor of Dental Medicine, an academic degree for the profession of Dentistry
* Duchenne muscular dystrophy, a neurodegenerative disease
* Dysmyelogenic leukod ...
;
DRP2 DRP may refer to:
Political parties
* Democratic Republican Party (South Korea)
* Deutsche Rechtspartei, a right-wing German party
* Dhivehi Rayyithunge Party, a right-wing Maldivian party
Other uses
* Dells Raceway Park, Wisconsin, US
* Distrib ...
;
DST
Daylight saving time (DST), also referred to as daylight savings time or simply daylight time (United States, Canada, and Australia), and summer time (United Kingdom, European Union, and others), is the practice of advancing clocks (typicall ...
;
KALRN;
MACF1;
MCF2L;
SPTA1
Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the ''SPTA1'' gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''gener ...
;
SPTAN1
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, c ...
;
SPTB
Spectrin beta chain, erythrocyte is a protein that in humans is encoded by the ''SPTB'' gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generatio ...
;
SPTBN1;
SPTBN2
Spectrin beta chain, brain 2 is a protein that in humans is encoded by the ''SPTBN2'' gene.
Clinical significance
Mutations in this gene is associated with Spinocerebellar ataxia type 5.
Interactions
SPTBN2 has been shown to interact with:
* ...
;
SPTBN4;
SPTBN5;
SYNE1;
SYNE2;
TRIO;
UTRN;
References
*
*
Further reading
*
*
*
Peripheral membrane proteins
Protein domains
{{membrane-protein-stub