TRPS1

TRPS1
Identifikatori
Aliasi	TRPS1
Vanjski ID-jevi	OMIM: 604386 MGI: 1927616 HomoloGene: 8556 GeneCards: TRPS1
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	115,809,673 bp
Lokacija gena (miš)
Hrom.	Hromosom 15 (miš)
Kraj	50,890,463 bp
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
	7227
	83925
	ENSG00000104447
	ENSMUSG00000038679
	Q9UHF7
	Q925H1
	NM_001282902; NM_001282903; NM_014112; NM_001330599
	NM_032000; NM_001310481; NM_001310485
	NP_001269831; NP_001269832; NP_001317528; NP_054831
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000104447 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000038679 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ 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.
^ "UniProt, Q9UHF7" (jezik: engleski). Pristupljeno 22. 9. 2021.
^ "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)

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000104447 - Ensembl, maj 2017

[refGRCm38Ensembl-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.

[pmid8530105-5] 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.

[pmid10615131-6] 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.

[pmid10647898-7] 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.

[UniProt-8] "UniProt, Q9UHF7" (jezik: engleski). Pristupljeno 22. 9. 2021.

[entrez-9] "Entrez Gene: Trichorhinophalangeal syndrome I".

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