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SPTBN4

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
SPTBN4
Identifiers
AliasesSPTBN4, QV, SPNB4, SPTBN3, spectrin beta, non-erythrocytic 4, CMND, NEDHND
External IDsOMIM:606214;MGI:1890574;HomoloGene:11879;GeneCards:SPTBN4;OMA:SPTBN4 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for SPTBN4
Genomic location for SPTBN4
Band19q13.2Start40,466,241bp[1]
End40,576,464bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for SPTBN4
Genomic location for SPTBN4
Band7 A3|7 15.88 cMStart27,055,808bp[2]
End27,147,111bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right hemisphere of cerebellum

  • right frontal lobe

  • Brodmann area 9

  • anterior cingulate cortex

  • prefrontal cortex

  • nucleus accumbens

  • caudate nucleus

  • putamen

  • amygdala

  • pituitary gland
Top expressed in
  • superior frontal gyrus

  • primary visual cortex

  • cerebellar cortex

  • nucleus of stria terminalis

  • central gray substance of midbrain

  • dentate gyrus of hippocampal formation granule cell

  • subiculum

  • piriform cortex

  • nucleus accumbens

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

57731

80297

Ensembl

ENSG00000160460

ENSMUSG00000011751

UniProt

Q9H254

n/a

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 asSPTBN4, is aprotein that in humans is encoded by theSPTBN4gene.[5][6]

Spectrin is anactin crosslinking and molecular scaffold protein that links thecell membrane to the actincytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization oforganelles. 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 thenuclear matrix, PML nuclear bodies, and cytoplasmicvesicles. A highly similar gene in mice 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

[edit]

SPTBN4 has been shown tointeract withPTPRN[6] andDISC1.[7]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000160460Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000011751Ensembl, 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: SPTBN4 spectrin, beta, non-erythrocytic 4".
  6. ^abBerghs 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

[edit]
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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