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TRPS1

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TRPS1
Identifikatori
AliasiTRPS1
Vanjski ID-jeviOMIM: 604386 MGI: 1927616 HomoloGene: 8556 GeneCards: TRPS1
Lokacija gena (čovjek)
Hromosom 8 (čovjek)
Hrom.Hromosom 8 (čovjek)[1]
Hromosom 8 (čovjek)
Genomska lokacija za TRPS1
Genomska lokacija za TRPS1
Bend8q23.3Početak115,408,496 bp[1]
Kraj115,809,673 bp[1]
Lokacija gena (miš)
Hromosom 15 (miš)
Hrom.Hromosom 15 (miš)[2]
Hromosom 15 (miš)
Genomska lokacija za TRPS1
Genomska lokacija za TRPS1
Bend15 C|15 19.18 cMPočetak50,654,752 bp[2]
Kraj50,890,463 bp[2]
Ontologija gena
Molekularna funkcija vezivanje sa DNK
sequence-specific DNA binding
GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity
GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific
vezivanje iona cinka
chromatin binding
vezivanje iona metala
GO:0001948, GO:0016582 vezivanje za proteine
nucleic acid binding
protein domain specific binding
RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific
Ćelijska komponenta transcription regulator complex
nukleoplazma
jedro
GO:0009327 makromolekulani kompleks
Biološki proces skeletal system development
GO:0009373 regulation of transcription, DNA-templated
GO:1901227 negative regulation of transcription by RNA polymerase II
transcription by RNA polymerase II
transcription, DNA-templated
NLS-bearing protein import into nucleus
regulation of chondrocyte differentiation
GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II
Ćelijska diferencijacija
protein heterooligomerization
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001282902
NM_001282903
NM_014112
NM_001330599

NM_032000
NM_001310481
NM_001310485

RefSeq (bjelančevina)

NP_001269831
NP_001269832
NP_001317528
NP_054831

n/a

Lokacija (UCSC)Chr 8: 115.41 – 115.81 MbChr 15: 50.65 – 50.89 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Transkripcijski faktor cinkovog prsta Trps1 je protein koji je kod ljudi kodiran genom TRPS1'.[5][6][7]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 1.281 aminokiselina, а molekulska težina 141.521 Da.[8]

1020304050
MVRKKNPPLRNVASEGEGQILEPIGTESKVSGKNKEFSADQMSENTDQSD
AAELNHKEEHSLHVQDPSSSSKKDLKSAVLSEKAGFNYESPSKGGNFPSF
PHDEVTDRNMLAFSSPAAGGVCEPLKSPQRAEADDPQDMACTPSGDSLET
KEDQKMSPKATEETGQAQSGQANCQGLSPVSVASKNPQVPSDGGVRLNKS
KTDLLVNDNPDPAPLSPELQDFKCNICGYGYYGNDPTDLIKHFRKYHLGL
HNRTRQDAELDSKILALHNMVQFSHSKDFQKVNRSVFSGVLQDINSSRPV
LLNGTYDVQVTSGGTFIGIGRKTPDCQGNTKYFRCKFCNFTYMGNSSTEL
EQHFLQTHPNKIKASLPSSEVAKPSEKNSNKSIPALQSSDSGDLGKWQDK
ITVKAGDDTPVGYSVPIKPLDSSRQNGTEATSYYWCKFCSFSCESSSSLK
LLEHYGKQHGAVQSGGLNPELNDKLSRGSVINQNDLAKSSEGETMTKTDK
SSSGAKKKDFSSKGAEDNMVTSYNCQFCDFRYSKSHGPDVIVVGPLLRHY
QQLHNIHKCTIKHCPFCPRGLCSPEKHLGEITYPFACRKSNCSHCALLLL
HLSPGAAGSSRVKHQCHQCSFTTPDVDVLLFHYESVHESQASDVKQEANH
LQGSDGQQSVKESKEHSCTKCDFITQVEEEISRHYRRAHSCYKCRQCSFT
AADTQSLLEHFNTVHCQEQDITTANGEEDGHAISTIKEEPKIDFRVYNLL
TPDSKMGEPVSESVVKREKLEEKDGLKEKVWTESSSDDLRNVTWRGADIL
RGSPSYTQASLGLLTPVSGTQEQTKTLRDSPNVEAAHLARPIYGLAVETK
GFLQGAPAGGEKSGALPQQYPASGENKSKDESQSLLRRRRGSGVFCANCL
TTKTSLWRKNANGGYVCNACGLYQKLHSTPRPLNIIKQNNGEQIIRRRTR
KRLNPEALQAEQLNKQQRGSNEEQVNGSPLERRSEDHLTESHQREIPLPS
LSKYEAQGSLTKSHSAQQPVLVSQTLDIHKRMQPLHIQIKSPQESTGDPG
NSSSVSEGKGSSERGSPIEKYMRPAKHPNYSPPGSPIEKYQYPLFGLPFV
HNDFQSEADWLRFWSKYKLSVPGNPHYLSHVPGLPNPCQNYVPYPTFNLP
PHFSAVGSDNDIPLDLAIKHSRPGPTANGASKEKTKAPPNVKNEGPLNVV
KTEKVDRSTQDELSTKCVHCGIVFLDEVMYALHMSCHGDSGPFQCSICQH
LCTDKYDFTTHIQRGLHRNNAQVEKNGKPKE

Funkcija[uredi | uredi izvor]

Ovaj gen kodira GATA-oliki transkripcijski faktor koji potiskuje GATA-regulirane gene i veže se na lahki lanac dineinskog protein. Vezivanje kodiranog proteina na protein lahkog lanca dineina utiče na vezivanje za GATA konsenzusne sekvence i potiskuje njegovu transkripcijsku aktivnost. Defekti ovog gena su uzrok triho-rino-falangnog sindroma (TRPS) tipa I-III (također poznat i kao Langer-Giedionpv sindrom).[9]

Reference[uredi | uredi izvor]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104447 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038679 - 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. ^ Hou J, Parrish J, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF (Sep 1995). "A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)". Genomics. 29 (1): 87–97. doi:10.1006/geno.1995.1218. PMID 8530105.
  6. ^ Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ (Jan 2000). "Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I". Nature Genetics. 24 (1): 71–4. doi:10.1038/71717. PMID 10615131. S2CID 21447066.
  7. ^ Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B (Dec 1999). "Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8". Human Genetics. 105 (6): 619–28. doi:10.1007/s004390051154. PMID 10647898.
  8. ^ "UniProt, Q9UHF7" (jezik: engleski). Pristupljeno 22. 9. 2021.
  9. ^ "Entrez Gene: Trichorhinophalangeal syndrome I".

Dopunska literatura[uredi | uredi izvor]

Vanjski linkovi[uredi | uredi izvor]