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Spectrin, alpha 1

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens

SPTA1
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

1OWA,3LBX

Identifiers
AliasesSPTA1, EL2, HPP, HS3, SPH3, SPTA, Spectrin, alpha 1, spectrin alpha, erythrocytic 1
External IDsOMIM:182860;MGI:98385;HomoloGene:74460;GeneCards:SPTA1;OMA:SPTA1 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for SPTA1
Genomic location for SPTA1
Band1q23.1Start158,610,704bp[1]
End158,686,715bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for SPTA1
Genomic location for SPTA1
Band1 H3|1 80.97 cMStart174,000,342bp[2]
End174,076,016bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • trabecular bone

  • bone marrow

  • bone marrow cells

  • testicle

  • gonad

  • monocyte

  • blood

  • right testis

  • left testis

  • spleen
Top expressed in
  • fetal liver hematopoietic progenitor cell

  • blood

  • tibiofemoral joint

  • human fetus

  • right lobe of liver

  • body of femur

  • epithelium of lens

  • spleen

  • right ventricle

  • bone marrow
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6708

20739

Ensembl

ENSG00000163554

ENSMUSG00000026532

UniProt

P02549

P08032

RefSeq (mRNA)

NM_003126

NM_011465

RefSeq (protein)

NP_003117

NP_035595

Location (UCSC)Chr 1: 158.61 – 158.69 MbChr 1: 174 – 174.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Spectrin alpha chain, erythrocyte is aprotein that in humans is encoded by theSPTA1gene.[5]

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia.[5]

Interactions

[edit]

Spectrin, alpha 1 has been shown tointeract withAbl gene.[6]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000163554Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000026532Ensembl, 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. ^ab"Entrez Gene: SPTA1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2)".
  6. ^Ziemnicka-Kotula, D; Xu J; Gu H; Potempska A; Kim K S; Jenkins E C; Trenkner E; Kotula L (May 1998)."Identification of a candidate human spectrin Src homology 3 domain-binding protein suggests a general mechanism of association of tyrosine kinases with the spectrin-based membrane skeleton".J. Biol. Chem.273 (22). UNITED STATES:13681–92.doi:10.1074/jbc.273.22.13681.ISSN 0021-9258.PMID 9593709.

Further reading

[edit]
PDB gallery
  • 1owa: Solution Structural Studies on Human Erythrocyte Alpha Spectrin N Terminal Tetramerization Domain
    1owa: Solution Structural Studies on Human Erythrocyte Alpha Spectrin N Terminal Tetramerization Domain
Human
Microfilaments
andABPs
Myofilament
Actins
Myosins
Other
Other
Intermediate
filaments
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
Microtubules
andMAPs
Tubulins
MAPs
Kinesins
Dyneins
Microtubule organising proteins
Microtubule severing proteins
Other
Catenins
Membrane
Other
Nonhuman


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