TRPS1

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

TRPS1
Identifikatori
Aliasi	TRPS1
Vanjski ID-jevi	OMIM: 604386 MGI: 1927616 HomoloGene: 8556 GeneCards: TRPS1
Lokacija gena (čovjek) Hrom. Hromosom 8 (čovjek)[1] Bend 8q23.3 Početak 115,408,496 bp[1] Kraj 115,809,673 bp[1]
Lokacija gena (miš) Hrom. Hromosom 15 (miš)[2] Bend 15 C|15 19.18 cM Početak 50,654,752 bp[2] Kraj 50,890,463 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
Vrste	Čovjek	Miš
Entrez	7227	83925
Ensembl	ENSG00000104447	ENSMUSG00000038679
UniProt	Q9UHF7	Q925H1
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 Mb	Chr 15: 50.65 – 50.89 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

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

• 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

10		20		30		40		50
MVRKKNPPLR		NVASEGEGQI		LEPIGTESKV		SGKNKEFSAD		QMSENTDQSD
AAELNHKEEH		SLHVQDPSSS		SKKDLKSAVL		SEKAGFNYES		PSKGGNFPSF
PHDEVTDRNM		LAFSSPAAGG		VCEPLKSPQR		AEADDPQDMA		CTPSGDSLET
KEDQKMSPKA		TEETGQAQSG		QANCQGLSPV		SVASKNPQVP		SDGGVRLNKS
KTDLLVNDNP		DPAPLSPELQ		DFKCNICGYG		YYGNDPTDLI		KHFRKYHLGL
HNRTRQDAEL		DSKILALHNM		VQFSHSKDFQ		KVNRSVFSGV		LQDINSSRPV
LLNGTYDVQV		TSGGTFIGIG		RKTPDCQGNT		KYFRCKFCNF		TYMGNSSTEL
EQHFLQTHPN		KIKASLPSSE		VAKPSEKNSN		KSIPALQSSD		SGDLGKWQDK
ITVKAGDDTP		VGYSVPIKPL		DSSRQNGTEA		TSYYWCKFCS		FSCESSSSLK
LLEHYGKQHG		AVQSGGLNPE		LNDKLSRGSV		INQNDLAKSS		EGETMTKTDK
SSSGAKKKDF		SSKGAEDNMV		TSYNCQFCDF		RYSKSHGPDV		IVVGPLLRHY
QQLHNIHKCT		IKHCPFCPRG		LCSPEKHLGE		ITYPFACRKS		NCSHCALLLL
HLSPGAAGSS		RVKHQCHQCS		FTTPDVDVLL		FHYESVHESQ		ASDVKQEANH
LQGSDGQQSV		KESKEHSCTK		CDFITQVEEE		ISRHYRRAHS		CYKCRQCSFT
AADTQSLLEH		FNTVHCQEQD		ITTANGEEDG		HAISTIKEEP		KIDFRVYNLL
TPDSKMGEPV		SESVVKREKL		EEKDGLKEKV		WTESSSDDLR		NVTWRGADIL
RGSPSYTQAS		LGLLTPVSGT		QEQTKTLRDS		PNVEAAHLAR		PIYGLAVETK
GFLQGAPAGG		EKSGALPQQY		PASGENKSKD		ESQSLLRRRR		GSGVFCANCL
TTKTSLWRKN		ANGGYVCNAC		GLYQKLHSTP		RPLNIIKQNN		GEQIIRRRTR
KRLNPEALQA		EQLNKQQRGS		NEEQVNGSPL		ERRSEDHLTE		SHQREIPLPS
LSKYEAQGSL		TKSHSAQQPV		LVSQTLDIHK		RMQPLHIQIK		SPQESTGDPG
NSSSVSEGKG		SSERGSPIEK		YMRPAKHPNY		SPPGSPIEKY		QYPLFGLPFV
HNDFQSEADW		LRFWSKYKLS		VPGNPHYLSH		VPGLPNPCQN		YVPYPTFNLP
PHFSAVGSDN		DIPLDLAIKH		SRPGPTANGA		SKEKTKAPPN		VKNEGPLNVV
KTEKVDRSTQ		DELSTKCVHC		GIVFLDEVMY		ALHMSCHGDS		GPFQCSICQH
LCTDKYDFTT		HIQRGLHRNN		AQVEKNGKPK		E

Funkcija

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

1. GRCh38: Ensembl release 89: ENSG00000104447 - Ensembl, maj 2017
2. 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

• Chang GT, van den Bemd GJ, Jhamai M, Brinkmann AO (Feb 2002). "Structure and function of GC79/TRPS1, a novel androgen-repressible apoptosis gene". Apoptosis. 7 (1): 13–21. doi:10.1023/A:1013504710343. PMID 11773701. S2CID 21641267.

Vanjski linkovi

• TRPS1 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)