ANKRD35

Last updated
ankyrin repeat domain 35
Identifiers
Symbol ANKRD35
Entrez 148741
HUGO 26323
RefSeq NM_144698
UniProt Q8N283
Other data
Locus Chr. 1 q21.1

Ankyrin repeat domain 35 also known as ANKRD35 is a protein which in humans is encoded by the ANKRD35 gene. [1]

Protein biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

Gene basic physical and functional unit of heredity

In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.

TAR syndrome is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count.

1q21.1 deletion syndrome or 1q21.1 (recurrent) microdeletion is a rare aberration of chromosome 1.

1q21.1 duplication syndrome Human disease

1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1.

Related Research Articles

Ankyrin

Ankyrins are a family of proteins that mediate the attachment of integral membrane proteins to the spectrin-actin based membrane cytoskeleton. Ankyrins have binding sites for the beta subunit of spectrin and at least 12 families of integral membrane proteins. This linkage is required to maintain the integrity of the plasma membranes and to anchor specific ion channels, ion exchangers and ion transporters in the plasma membrane. The name is derived from the Greek word for "fused".

Ankyrin repeat InterPro Repeat

The ankyrin repeat is a 33-residue motif in proteins consisting of two alpha helices separated by loops, first discovered in signaling proteins in yeast Cdc10 and Drosophila Notch. Domains consisting of ankyrin tandem repeats mediate protein–protein interactions and are among the most common structural motifs in known proteins. They appear in bacterial, archaeal, and eukaryotic proteins, but are far more common in eukaryotes. Ankyrin repeat proteins, though absent in most viruses, are common among poxviruses. Most proteins that contain the motif have four to six repeats, although its namesake ankyrin contains 24, and the largest known number of repeats is 34, predicted in a protein expressed by Giardia lamblia.

ANKRD2 protein-coding gene in the species Homo sapiens

Ankyrin Repeat, PEST sequence and Proline-rich region (ARPP), also known as Ankyrin repeat domain-containing protein 2 is a protein that in humans is encoded by the ANKRD2 gene. ARPP is a member of the muscle ankyrin repeat proteins (MARP), which also includes CARP and DARP, and is highly expressed in cardiac and skeletal muscle and in other tissues. Expression of AARP has been shown to be altered in patients with dilated cardiomyopathy and amyotrophic lateral sclerosis.

RFXANK protein-coding gene in the species Homo sapiens

DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene.

ANKRD1 protein-coding gene in the species Homo sapiens

CARP, also known as Cardiac adriamycin-responsive protein or Cardiac ankyrin repeat protein is a protein that in humans is encoded by the ANKRD1 gene. CARP is highly expressed in cardiac and skeletal muscle, and is a transcription factor involved in development and under conditions of stress. CARP has been implicated in several diseases, including dilated cardiomyopathy, hypertrophic cardiomyopathy, and several skeletal muscle myopathies.

ANKRD27 protein-coding gene in the species Homo sapiens

Ankyrin repeat domain-containing protein 27 is a protein that in humans is encoded by the ANKRD27 gene.

MYPN protein-coding gene in the species Homo sapiens

Myopalladin is a protein that in humans is encoded by the MYPN gene. Myopalladin is a muscle protein responsible for tethering proteins at the Z-disc and for communicating between the sarcomere and the nucleus in cardiac and skeletal muscle

ANKRD25 protein-coding gene in the species Homo sapiens

KN motif and ankyrin repeat domain-containing protein 2 is a protein that in humans is encoded by the KANK2 gene.

ANKRD17 protein-coding gene in the species Homo sapiens

Ankyrin repeat domain-containing protein 17 is a protein that in humans is encoded by the ANKRD17 gene.

SHANK3 protein-coding gene in the species Homo sapiens

SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 (ProSAP2), is a protein that in humans is encoded by the SHANK3 gene on chromosome 22. Additional isoforms have been described for this gene but they have not yet been experimentally verified.

ANKRD15 protein-coding gene in the species Homo sapiens

KN motif and ankyrin repeat domain-containing protein 1 is a protein that in humans is encoded by the KANK1 gene.

ANKRD13C protein-coding gene in the species Homo sapiens

Ankyrin repeat domain-containing protein 13C is a protein that in humans is encoded by the ANKRD13C gene.

ANKRD23 protein-coding gene in the species Homo sapiens

Ankyrin repeat domain-containing protein 23 is a protein that in humans is encoded by the ANKRD23 gene.

ANKRD26 protein-coding gene in the species Homo sapiens

Ankyrin repeat domain-containing protein 26 is a protein that in humans is encoded by the ANKRD26 gene. This protein has a function that is not currently understood.

Ankyrin-B, also known as Ankyrin-2, is a protein which in humans is encoded by the ANK2 gene. Ankyrin-B is ubiquitously expressed, but shows high expression in cardiac muscle. Ankyrin-B plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in cardiomyocytes, as well as in costamere structures. Mutations in ankyrin-B cause a dominantly-inherited, cardiac arrhythmia syndrome known as ankyrin-B syndrome as well as sick sinus syndrome; mutations have also been associated to a lesser degree with hypertrophic cardiomyopathy. Alterations in ankyrin-B expression levels are observed in human heart failure.

ANKRD24 protein-coding gene in the species Homo sapiens

Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also known as KIAA1981. The protein's function in humans is currently unknown. ANKRD24 is in the protein family that contains ankyrin-repeat domains.

ANKRD31 protein-coding gene in the species Homo sapiens

Ankyrin repeat domain 31 is a protein that in humans is encoded by the ANKRD31 gene.

Ankyrin repeat domain 11 protein-coding gene in the species Homo sapiens

Ankyrin repeat domain 11 is a protein that in humans is encoded by the ANKRD11 gene.

Ankyrin repeat domain 33 protein-coding gene in the species Homo sapiens

Ankyrin repeat domain 33 is a protein that in humans is encoded by the ANKRD33 gene.

Ankyrin repeat domain 22 protein-coding gene in the species Homo sapiens

Ankyrin repeat domain 22 is a protein that in humans is encoded by the ANKRD22 gene.

References

  1. ↑ "Entrez Gene: ANKRD35 ankyrin repeat domain 35".
  2. ↑ Klopocki E, Schulze H, Strauss G, et al. (February 2007). "Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome". Am. J. Hum. Genet. 80 (2): 232–40. doi:10.1086/510919. PMC   1785342  Lock-green.svg. PMID   17236129.


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