IFT43

IFT43
Identifikatori
AliasiIFT43
Vanjski ID-jeviOMIM: 614068 MGI: 1923661 HomoloGene: 12641 GeneCards: IFT43
Lokacija gena (čovjek)
Hromosom 14 (čovjek)
Hrom.Hromosom 14 (čovjek)[1]
Hromosom 14 (čovjek)
Genomska lokacija za IFT43
Genomska lokacija za IFT43
Bend14q24.3Početak75,902,136 bp[1]
Kraj76,084,585 bp[1]
Lokacija gena (miš)
Hromosom 12 (miš)
Hrom.Hromosom 12 (miš)[2]
Hromosom 12 (miš)
Genomska lokacija za IFT43
Genomska lokacija za IFT43
Bend12|12 D2Početak86,129,315 bp[2]
Kraj86,209,233 bp[2]
Ontologija gena
Molekularna funkcija• GO:0001948, GO:0016582 vezivanje za proteine
Ćelijska komponenta• citoplazma
• microtubule cytoskeleton
• ciliary tip
• citoskelet
• intraciliary transport particle A
• centar organizacije mikrotubula
• projekcija ćelije
• Treplja
Biološki proces• cilium assembly
• intraciliary retrograde transport
• cell projection organization
• intraciliary transport involved in cilium assembly
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez

112752

76411

Ensembl

ENSG00000119650

ENSMUSG00000007867

UniProt

Q96FT9

Q9DA69

RefSeq (mRNK)

NM_001102564
NM_001255995
NM_052873

NM_001199843
NM_029601

RefSeq (bjelančevina)

NP_001096034
NP_001242924
NP_443105

NP_001186772
NP_083877

Lokacija (UCSC)Chr 14: 75.9 – 76.08 MbChr 12: 86.13 – 86.21 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

IFT43 je gen, koji kodira međuflagelski i međucilijski transport 43. To je podjedinica intraflagelnog transportnog kompleksa A (IFTA). IFTA je uključen u retrogradni transport cilija duž aksonemnih mikrotubula (sažetak Arts et al., 2011).

Gross (2011) locirao je gen IFT43 na poziciji hromosoma 14, sekvenca 14q24.3, na osnovu poravnavanja sekvence IFT43 (GenBank BC010436) sa genomskom sekvencom (GRCh37).[5] Arts et al. (2011) izvjestili su da IFT43 gene sadrži 10 egzona.[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 208 aminokiselina, a molekulska težina 23 529 Da[7].

1020304050
MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGET
SSAKLPRCRQGGWAGDSVKASKFRRKASEEIEDFRLRPQSLNGSDYGGDI
PIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDG
EIDLKLLTKVLAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKED
PAGQARHT
Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

Kloniranje i ekspresija

Arts et al. (2011) izvijestili su da alternativna prerada ljudskog IFT43 proizvodi dvije glavne izoforme proteina, koje sadrže 213 i 208 aminokiselina i razlikuju se samo u središnjem području.

RT-PCR analizom očnih tkiva dvomjesečnog miša, Biswas et al. (2017) uočili su visoku ekspresiju IFT43 u mrežnjači i minimalnu ekspresiju u pigmentnom epitelu mrežnnjače. Imunohistohemijska analiza IFT43 u mišjem i ljudskom tkivu mrežnjače pokazala je da je IFT43 pretežno lokaliziran u području vanjskog segmenta fotoreceptora, bez značajne ekspresije u ostalim slojevima mrežnjače.[8]

Reference

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119650 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007867 - Ensembl, maj 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. ^ Gross, M. B. Personal Communication. Baltimore, Md. 6/29/2011.
  6. ^ Arts, H. H., Bongers, E. M. H. F., Mans, D. A., van Beersum, S. E. C., Oud, M. M., Bolat, E., Spruijt, L., Cornelissen, E. A. M., Schuurs-Hoeijmakers, J. H. M., de Leeuw, N., Cormier-Daire, V., Brunner, H. G., Knoers, N. V. A. M., Roepman, R. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J. Med. Genet. 48: 390-395, 2011. PubMed: 21378380
  7. ^ "UniProt, Q96FT9". Pristupljeno 26. 7. 2021.
  8. ^ Biswas, P., Duncan, J. L., Ali, M., Matsui, H., Naeem, M. A., Raghavendra, P. B., Frazer, K. A., Arts, H. H., Riazuddin, S., Akram, J., Hejtmancik, J. F., Riazuddin, S. A., Ayyagari, R. A mutation in IFT43 causes non-syndromic recessive retinal degeneration. Hum. Molec. Genet. 26: 4741-4751, 2017. PubMed: 28973684

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