MKKS

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MKKS
Identifikatori
AliasiMKKS
Vanjski ID-jeviOMIM: 604896 MGI: 1891836 HomoloGene: 10318 GeneCards: MKKS
Lokacija gena (miš)
Hromosom 2 (miš)
Hrom.Hromosom 2 (miš)[1]
Hromosom 2 (miš)
Genomska lokacija za MKKS
Genomska lokacija za MKKS
Bend2|2 F3Početak136,715,700 bp[1]
Kraj136,733,309 bp[1]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija nucleotide binding
GO:0001948, GO:0016582 protein binding
ATP binding
protein folding chaperone activity
unfolded protein binding
Ćelijska komponenta citosol
centrosom
kinociliary basal body
intracellular anatomical structure
centar organizacije mikrotubula
motile cilium
citoskelet
ciliary basal body
citoplazma
Jedro
membrana
integral component of membrane
Biološki proces pigment granule aggregation in cell center
regulation of cilium beat frequency involved in ciliary motility
chaperone-mediated protein complex assembly
negative regulation of actin filament polymerization
negative regulation of appetite by leptin-mediated signaling pathway
response to stimulus
negative regulation of blood pressure
convergent extension involved in gastrulation
leptin-mediated signaling pathway
Vazodilatacija
intracellular transport
negative regulation of gene expression
regulation of stress fiber assembly
detection of mechanical stimulus involved in sensory perception of sound
heart looping
sensory perception of smell
heart development
cartilage development
face development
determination of left/right symmetry
GO:0034259 negative regulation of GTPase activity
Savijanje proteina
melanosome transport
spermatid development
artery smooth muscle contraction
cerebral cortex development
positive regulation of multicellular organism growth
socijalno ponašanje
photoreceptor cell maintenance
response to leptin
hippocampus development
gonad development
fat cell differentiation
striatum development
Vid
brain morphogenesis
'de novo' protein folding
chaperone-mediated protein folding
non-motile cilium assembly
cilium assembly
GO:0007571 developmental process
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_018848
NM_170784
NM_001394148
NM_001394149

NM_001141946
NM_001286981
NM_001286983
NM_021527

RefSeq (bjelančevina)

NP_061336
NP_740754

NP_001135418
NP_001273910
NP_001273912
NP_067502

Lokacija (UCSC)n/aChr 2: 136.72 – 136.73 Mb
PubMed pretraga[2][3]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Pretpostavljeni šaperonin McKusick-Kaufman/Bardet-Biedlovog sindroma je protein koji je kod ljudi kodiran iz gena MKKS.[4][5]

Ovaj gen kodira protein slične sekvence kao i porodica šaperonina. Kodirani protein može imati ulogu u preradi proteina u razvoju udova, srca i reproduktivnog sistema. [

[Mutacije]] u genu MKKS uočene su kod pacijenata sa Bardet-Biedlovog sidroma tip 6 i McKusick-Kaufmanovog sindroma. Za ovaj gen identificirane su dvije varijante transkripta koji kodiraju isti protein.[5]

Reference[uredi | uredi izvor]

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027274 - Ensembl, maj 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG (Apr 1998). "Genetic and physical mapping of the McKusick-Kaufman syndrome". Hum Mol Genet. 7 (3): 475–81. doi:10.1093/hmg/7.3.475. PMID 9467007.
  5. ^ a b "Entrez Gene: MKKS McKusick-Kaufman syndrome".

Dopunska literatura[uredi | uredi izvor]

Vanjski linkovi[uredi | uredi izvor]