SPTBN4

From WikiProjectMed
Jump to navigation Jump to search
SPTBN4
Identifiers
AliasesSPTBN4, QV, SPNB4, SPTBN3, spectrin beta, non-erythrocytic 4, CMND, NEDHND
External IDsOMIM: 606214 MGI: 1890574 HomoloGene: 11879 GeneCards: SPTBN4
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020971
NM_025213

NM_001199234
NM_001199235
NM_001199236
NM_032610

RefSeq (protein)

NP_066022
NP_079489

n/a

Location (UCSC)Chr 19: 40.47 – 40.58 MbChr 7: 27.06 – 27.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Spectrin, beta, non-erythrocytic 4, also known as SPTBN4, is a protein that in humans is encoded by the SPTBN4 gene.[5][6]

Spectrin is an actin crosslinking and molecular scaffold protein that links the cell membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene.[5]

Interactions

SPTBN4 has been shown to interact with PTPRN[6] and DISC1.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000160460 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000011751 - 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. ^ a b "Entrez Gene: SPTBN4 spectrin, beta, non-erythrocytic 4".
  6. ^ a b Berghs S, Aggujaro D, Dirkx R, Maksimova E, Stabach P, Hermel JM, Zhang JP, Philbrick W, Slepnev V, Ort T, Solimena M (November 2000). "betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system". J. Cell Biol. 151 (5): 985–1002. doi:10.1083/jcb.151.5.985. PMC 2174349. PMID 11086001.
  7. ^ Morris JA, Kandpal G, Ma L, Austin CP (Jul 2003). "DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation". Hum. Mol. Genet. 12 (13): 1591–608. doi:10.1093/hmg/ddg162. PMID 12812986.

Further reading