Tireostimulirajući hormon beta

Tireostimulirajući hormon beta
Identifikatori
Aliasi	TSHB
Vanjski ID-jevi	OMIM: 188540 MGI: 98848 HomoloGene: 463 GeneCards: TSHB
Lokacija gena (čovjek) Hrom. Hromosom 1 (čovjek)[1] Bend 1p13.2 Početak 115,029,826 bp[1] Kraj 115,034,302 bp[1]
Lokacija gena (miš) Hrom. Hromosom 3 (miš)[2] Bend 3 F2.2|3 45.25 cM Početak 102,682,781 bp[2] Kraj 102,690,034 bp[2]
Ontologija gena Molekularna funkcija • hormone activity Ćelijska komponenta • extracellular region • Vanćelijsko • citoplazma Biološki proces • response to calcium ion • cell-cell signaling • anatomical structure morphogenesis • G protein-coupled receptor signaling pathway • response to vitamin A • peptide hormone processing • response to estrogen • hormone-mediated signaling pathway • regulation of signaling receptor activity Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	7252	22094
Ensembl	ENSG00000134200	ENSMUSG00000027857
UniProt	P01222	P12656
RefSeq (mRNK)	NM_000549 NM_001277991	NM_001165939 NM_001165940 NM_009432
RefSeq (bjelančevina)	NP_000540 NP_001264920	NP_001159411 NP_001159412 NP_033458
Lokacija (UCSC)	Chr 1: 115.03 – 115.03 Mb	Chr 3: 102.68 – 102.69 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Tireostimulirajući hormon beta
Identifikatori
Simbol	TSHB
NCBI gen	7252
HGNC	12372
OMIM	188540
RefSeq	NM_000549
UniProt	P01222
Ostali podaci
Lokus	Hrom. 1 p13
Pretraga za Strukture Swiss-model Domene InterPro

Kod čovjeka, genski lokus TSHB je na kratkom (p) kraku hromosomu 1.

Tirostimulirajući hormon beta, skraćeno TSHB, je protein čiju sintezu, kod čovjeka kodira gen TSHB.^[5][6]

Funkcija

Tirostimulirajući hormon beta (TSH) je nekovalentno vezani glikoproteinski heterodimer, dio porodice hormona hipofize koji sadrže zajedničku alfa podjedinicu (TSHA), a specifičnost mu daje jedinstvena beta podjedinica (ovaj protein).^[7]

Također pogledajte

• Tireostimulirajući hormon

Reference

1. GRCh38: Ensembl release 89: ENSG00000134200 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027857 - 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. Wondisford FE, Radovick S, Moates JM, Usala SJ, Weintraub BD (septembar 1988). "Isolation and characterization of the human thyrotropin beta-subunit gene. Differences in gene structure and promoter function from murine species". J. Biol. Chem. 263 (25): 12538–42. PMID 2457586. Arhivirano s originala, 25. 4. 2020. Pristupljeno 26. 8. 2020.
6. Tatsumi K, Hayashizaki Y, Hiraoka Y, Miyai K, Matsubara K (decembar 1988). "The structure of the human thyrotropin beta-subunit gene". Gene. 73 (2): 489–97. doi:10.1016/0378-1119(88)90513-6. PMID 3243440.
7. "Entrez Gene: TSHB".

Dopunska literatura

• Bonomi M, Proverbio MC, Weber G, et al. (2001). "Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene". J. Clin. Endocrinol. Metab. 86 (4): 1600–4. doi:10.1210/jc.86.4.1600. PMID 11297590.
• Vuissoz JM, Deladoëy J, Buyukgebiz A, et al. (2001). "New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism". J. Clin. Endocrinol. Metab. 86 (9): 4468–71. doi:10.1210/jc.86.9.4468. PMID 11549695.
• Karges B, LeHeup B, Schoenle E, et al. (2004). "Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in Europe". Horm. Res. 62 (3): 149–55. doi:10.1159/000080071. PMID 15297803.
• Kabadi UM, Premachandra BN (2007). "Serum thyrotropin in Graves' disease: a more reliable index of circulating thyroid-stimulating immunoglobulin level than thyroid function?". Endocr Pract. 13 (6): 615–9. doi:10.4158/ep.13.6.615. PMID 17954417.
• Miyai S, Yoshimura S, Iwasaki Y, et al. (2005). "Induction of GH, PRL, and TSH beta mRNA by transfection of Pit-1 in a human pituitary adenoma-derived cell line". Cell Tissue Res. 322 (2): 269–77. doi:10.1007/s00441-005-0033-z. PMID 16133148.
• Pierce JG (1971). "Eli Lilly lecture. The subunits of pituitary thyrotropin--their relationship to other glycoprotein hormones". Endocrinology. 89 (6): 1331–44. doi:10.1210/endo-89-6-1331. PMID 5002675.
• Atzmon G, Barzilai N, Surks MI, Gabriely I (2009). "Genetic Predisposition to Elevated Serum Thyrotropin Is Associated with Exceptional Longevity". J. Clin. Endocrinol. Metab. 94 (12): 4768–75. doi:10.1210/jc.2009-0808. PMC 2795660. PMID 19837933.
• Landa I, Ruiz-Llorente S, Montero-Conde C, et al. (2009). Gibson G (ured.). "The Variant rs1867277 in FOXE1 Gene Confers Thyroid Cancer Susceptibility through the Recruitment of USF1/USF2 Transcription Factors". PLoS Genet. 5 (9): e1000637. doi:10.1371/journal.pgen.1000637. PMC 2727793. PMID 19730683.
• Pohlenz J, Dumitrescu A, Aumann U, et al. (2002). "Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene". J. Clin. Endocrinol. Metab. 87 (1): 336–9. doi:10.1210/jc.87.1.336. PMID 11788671.
• Miyoshi I, Kasai N, Hayashizaki Y (1994). "[Structure and regulation of human thyroid-stimulating hormone (TSH) gene]". Nippon Rinsho. 52 (4): 940–7. PMID 8196184.
• Borck G, Topaloglu AK, Korsch E, et al. (2004). "Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect". J. Clin. Endocrinol. Metab. 89 (8): 4136–41. doi:10.1210/jc.2004-0494. PMID 15292359.
• Comings DE, Gade-Andavolu R, Gonzalez N, et al. (2000). "A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory". Clin. Genet. 58 (5): 375–85. doi:10.1034/j.1399-0004.2000.580508.x. PMID 11140838.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Clark AG, Glanowski S, Nielsen R, et al. (2003). "Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios". Science. 302 (5652): 1960–3. doi:10.1126/science.1088821. PMID 14671302.
• Loinder K, Söderström M (2005). "An LXXLL motif in nuclear receptor corepressor mediates ligand-induced repression of the thyroid stimulating hormone-beta gene". J. Steroid Biochem. Mol. Biol. 97 (4): 322–7. doi:10.1016/j.jsbmb.2005.06.031. PMID 16216492.
• Luttrell LM (2008). "Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors". Mol. Biotechnol. 39 (3): 239–64. doi:10.1007/s12033-008-9031-1. PMID 18240029.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Brumm H, Pfeufer A, Biebermann H, et al. (2002). "Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect". J. Clin. Endocrinol. Metab. 87 (10): 4811–6. doi:10.1210/jc.2002-020297. PMID 12364478.
• Benhadi N, Wiersinga WM, Reitsma JB, et al. (2009). "Higher maternal TSH levels in pregnancy are associated with increased risk for miscarriage, fetal or neonatal death". Eur. J. Endocrinol. 160 (6): 985–91. doi:10.1530/EJE-08-0953. PMID 19273570.
• Schaefer JS, Klein JR (2009). "A novel thyroid stimulating hormone β-subunit isoform in human pituitary, peripheral blood leukocytes, and thyroid". Gen. Comp. Endocrinol. 162 (3): 241–4. doi:10.1016/j.ygcen.2009.04.006. PMC 2689139. PMID 19364510.

Vanjski linkovi

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