Mekelin je protein koji je kod ljudi kodiran genom TMEM67.[5][6][7]

TMEM67
Identifikatori
AliasiTMEM67
Vanjski ID-jeviOMIM: 609884 MGI: 1923928 HomoloGene: 71886 GeneCards: TMEM67
Lokacija gena (čovjek)
Hromosom 8 (čovjek)
Hrom.Hromosom 8 (čovjek)[1]
Hromosom 8 (čovjek)
Genomska lokacija za TMEM67
Genomska lokacija za TMEM67
Bend8q22.1Početak93,754,844 bp[1]
Kraj93,819,234 bp[1]
Lokacija gena (miš)
Hromosom 4 (miš)
Hrom.Hromosom 4 (miš)[2]
Hromosom 4 (miš)
Genomska lokacija za TMEM67
Genomska lokacija za TMEM67
Bend4|4 A1Početak12,039,355 bp[2]
Kraj12,090,020 bp[2]
Ontologija gena
Molekularna funkcija unfolded protein binding
filamin binding
GO:0001948, GO:0016582 vezivanje za proteine
Ćelijska komponenta citoplazma
integral component of membrane
centrosom
projekcija ćelije
MKS complex
endoplasmic reticulum membrane
membrana
ćelijska membrana
Treplja
Endoplazmatski retikulum
ciliary membrane
citoskelet
cytoplasmic vesicle membrane
ciliary transition zone
Biološki proces negative regulation of centrosome duplication
cell projection organization
ubiquitin-dependent ERAD pathway
cilium assembly
ciliary basal body-plasma membrane docking
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001142301
NM_153704

NM_177861

RefSeq (bjelančevina)

NP_001135773
NP_714915

NP_808529

Lokacija (UCSC)Chr 8: 93.75 – 93.82 MbChr 4: 12.04 – 12.09 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 995 aminokiselina, а molekulska težina 111.745 Da.[8]

1020304050
MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCD
NNQYFDISALSCVPCGANQRQDARGTSCVCLPGFQMISNNGGPAIICKKC
PENMKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATC
ELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACSEPNILTGGLCFSS
TGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALG
NMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYG
DQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLE
GGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLE
YTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSG
RENDLGTQPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDA
NSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRI
GSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLL
PMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLK
AVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLE
VVGFKNLALMDSSSSLSRNPPSYIAPYSCILRYAVSAALWLAIGIIQVVF
FAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADT
NMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMRQHYDRIHETL
IRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKL
LLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVV
DLACQNFILASFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI

Funkcija

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Protein kodiran ovim genom nalazi se u primarnom cilijumu i u plazmamembrani. Gen funkcionira u migraciji centriola na apikalnu membranu i formiranje primarne cilije. Za ovaj gen je pronađeno više varijanti transkripta koje kodiraju različite izoforme.[7]

Klinički značaj

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Defekti ovog gena su uzrok Meckelovog sindroma tipa 3 (MKS3),[6] nefronoftize[9][10] i Joubertovog sindroma tip 6 (JBTS6).[11]

Također pogledajte

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Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164953 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000049488 - 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. ^ Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller RF, Trembath RC, Maher ER, Johnson CA (Oct 2002). "A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24". Hum Genet. 111 (4–5): 456–61. doi:10.1007/s00439-002-0817-0. PMID 12384791. S2CID 31669120.
  6. ^ a b Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik SS, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, Gattone VH II, Harris PC, Johnson CA (Jan 2006). "The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat". Nat Genet. 38 (2): 191–6. doi:10.1038/ng1713. PMID 16415887. S2CID 975892.
  7. ^ a b "Entrez Gene: TMEM67 transmembrane protein 67".
  8. ^ "UniProt, Q5HYA8" (jezik: engleski). Pristupljeno 22. 9. 2021.
  9. ^ Boichis H, Passwell J, David R, Miller H (januar 1973). "Congenital hepatic fibrosis and nephronophthisis. A family study". Q. J. Med. 42 (165): 221–33. PMID 4688793.
  10. ^ Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F (oktobar 2009). "Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)". J. Med. Genet. 46 (10): 663–70. doi:10.1136/jmg.2009.066613. PMID 19508969.
  11. ^ Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T (januar 2007). "The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome". Am. J. Hum. Genet. 80 (1): 186–94. doi:10.1086/510499. PMC 1785313. PMID 17160906.

Dopunska literatura

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Vanjski linkovi

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Šablon:Cilijarni proteini