MBNL3

MBNL3

Identifiers

MBNL3, CHCR, MBLX, MBLX39, MBXL, muscleblind like splicing regulator 3

External IDs

OMIM: 300413; MGI: 2444912; GeneCards: MBNL3

Gene location (Human)

Chr.	X chromosome (human)

Band	Xq26.2	Start	132,369,317 bp
Band	Xq26.2	End	132,489,968 bp

Gene location (Mouse)

Chr.	X chromosome (mouse)

Band	X\|X A5	Start	50,206,146 bp
Band	X\|X A5	End	50,295,409 bp

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

tail of epididymis

germinal epithelium

corpus epididymis

trabecular bone

placenta

gingival epithelium

caput epididymis

seminal vesicula

mucosa of sigmoid colon

parietal pleura

Top expressed in

umbilical cord

transitional epithelium of urinary bladder

left lung lobe

gastrula

conjunctival fornix

lacrimal gland

decidua

abdominal wall

ureter

dermis

More reference expression data


More reference expression data

Gene ontology
Molecular function	protein binding metal ion binding RNA binding DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component	cytoplasm nucleus nucleoplasm
Biological process	multicellular organism development regulation of RNA splicing mRNA processing negative regulation of myoblast differentiation RNA splicing regulation of alternative mRNA splicing, via spliceosome regulation of transcription by RNA polymerase II
Sources:Amigo / QuickGO

Databases

NCBI: entry; OMA: entry

Species

Human

Mouse


55796


171170


ENSG00000076770


ENSMUSG00000036109


Q9NUK0


Q8R003

RefSeq (mRNA)

NM_001170701 NM_001170702 NM_001170703 NM_001170704 NM_018388
NM_133486


NM_134163 NM_001310515

RefSeq (protein)

NP_001164172 NP_001164173 NP_001164174 NP_001164175 NP_060858
NP_597846


NP_001297444 NP_598924

Location (UCSC)

Chr X: 132.37 – 132.49 Mb

Chr X: 50.21 – 50.3 Mb

PubMed search

View/Edit Human

View/Edit Mouse

Muscleblind-like protein 3 is a protein that in humans is encoded by the MBNL3 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000076770 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036109 – Ensembl, May 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.
↑ Squillace RM, Chenault DM, Wang EH (Sep 2002). "Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR". Dev Biol. 250 (1): 218–30. doi:10.1006/dbio.2002.0798. PMID 12297108.
↑ Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (Oct 2000). "Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy". EMBO J. 19 (17): 4439–48. doi:10.1093/emboj/19.17.4439. PMC 302046. PMID 10970838.
↑ "Entrez Gene: MBNL3 muscleblind-like 3 (Drosophila)".

Further reading

Fardaei M, Rogers MT, Thorpe HM, et al. (2002). "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells". Hum. Mol. Genet. 11 (7): 805–14. doi:10.1093/hmg/11.7.805. PMID 11929853.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Ho TH, Charlet-B N, Poulos MG, et al. (2005). "Muscleblind proteins regulate alternative splicing". EMBO J. 23 (15): 3103–12. doi:10.1038/sj.emboj.7600300. PMC 514918. PMID 15257297.
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.
Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
Self JE, Ennis S, Collins A, et al. (2006). "Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3". Mol. Vis. 12: 1211–6. PMID 17102799.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by adding missing information.