Spartan (SPRTN) jest protein koji je kod ljudi kodiran genom SPRTN sa hromosoma 1. Uključen je u popravak DNK.[5][6][7]

SPRTN
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

5IY4

Identifikatori
AliasiSPRTN
Vanjski ID-jeviOMIM: 616086 MGI: 2685351 HomoloGene: 32764 GeneCards: SPRTN
Lokacija gena (čovjek)
Hromosom 1 (čovjek)
Hrom.Hromosom 1 (čovjek)[1]
Hromosom 1 (čovjek)
Genomska lokacija za SPRTN
Genomska lokacija za SPRTN
Bend1q42.2Početak231,337,104 bp[1]
Kraj231,355,023 bp[1]
Lokacija gena (miš)
Hromosom 8 (miš)
Hrom.Hromosom 8 (miš)[2]
Hromosom 8 (miš)
Genomska lokacija za SPRTN
Genomska lokacija za SPRTN
Bend8|8 E2Početak125,624,625 bp[2]
Kraj125,632,900 bp[2]
Ontologija gena
Molekularna funkcija vezivanje sa DNK
K63-linked polyubiquitin modification-dependent protein binding
GO:0001948, GO:0016582 vezivanje za proteine
ubiquitin binding
vezivanje iona metala
Ćelijska komponenta nuclear speck
jedro
nukleoplazma
hromosom
Biološki proces error-free translesion synthesis
positive regulation of protein ubiquitination
response to UV
cellular response to DNA damage stimulus
translesion synthesis
GO:0100026 Popravka DNK
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001010984
NM_001261462
NM_032018

NM_001111141

RefSeq (bjelančevina)

NP_001010984
NP_001248391
NP_114407

NP_001104611

Lokacija (UCSC)Chr 1: 231.34 – 231.36 MbChr 8: 125.62 – 125.63 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 489 aminokiselina, a molekulska težina 55.134 Da.[8]

1020304050
MDDDLMLALRLQEEWNLQEAERDHAQESLSLVDASWELVDPTPDLQALFV
QFNDQFFWGQLEAVEVKWSVRMTLCAGICSYEGKGGMCSIRLSEPLLKLR
PRKDLVETLLHEMIHAYLFVTNNDKDREGHGPEFCKHMHRINSLTGANIT
VYHTFHDEVDEYRRHWWRCNGPCQHRPPYYGYVKRATNREPSAHDYWWAE
HQKTCGGTYIKIKEPENYSKKGKGKAKLGKEPVLAAENKDKPNRGEAQLV
IPFSGKGYVLGETSNLPSPGKLITSHAINKTQDLLNQNHSANAVRPNSKI
KVKFEQNGSSKNSHLVSPAVSNSHQNVLSNYFPRVSFANQKAFRGVNGSP
RISVTVGNIPKNSVSSSSQRRVSSSKISLRNSSKVTESASVMPSQDVSGS
EDTFPNKRPRLEDKTVFDNFFIKKEQIKSSGNDPKYSTTTAQNSSSSSSQ
SKMVNCPVCQNEVLESQINEHLDWCLEGDSIKVKSEESL

Funkcija

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Kao posljedica mutacije u genu SPRTN, koji kodira metaloproteinazu za popravke prekida proteina, nastaje Ruijs-Aalfsov sindrom .[9] To je autosomno recesivni genetički poremećaj. Obilježja ovog poremećaja su znaci preuranjenog starenja, nestabilnost hromosoma i razvoj hepatoćelijskog karcinoma.[9]

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000010072 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031986 - 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. ^ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (decembar 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  6. ^ "Entrez Gene: C1orf124 chromosome 1 open reading frame 124".
  7. ^ Juhasz S, Balogh D, Hajdu I, Burkovics P, Villamil MA, Zhuang Z, Haracska L (novembar 2012). "Characterization of human Spartan/C1orf124, an ubiquitin-PCNA interacting regulator of DNA damage tolerance". Nucleic Acids Research. 40 (21): 10795–808. doi:10.1093/nar/gks850. PMC 3510514. PMID 22987070.
  8. ^ "UniProt, Q9H040" (jezik: engleski). Pristupljeno 20. 12. 2020.
  9. ^ a b Abugable AA, Morris JLM, Palminha NM, Zaksauskaite R, Ray S, El-Khamisy SF. DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms. DNA Repair (Amst). 2019 Sep;81:102669. doi: 10.1016/j.dnarep.2019.102669. Epub 2019 Jul 8. Review. PMID 31331820

Dopunska literatura

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