MAB21L1

MAB21L1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5EOG, 5EOM
Identifiers
Aliases	MAB21L1, CAGR1, Nbla00126, mab-21 like 1, COFG
External IDs	OMIM: 601280; MGI: 1333773; HomoloGene: 36183; GeneCards: MAB21L1; OMA:MAB21L1 - orthologs
Gene location (Human) Chr. Chromosome 13 (human) Band 13q13.3 Start 35,473,789 bp End 35,476,689 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 C Start 55,689,931 bp End 55,692,422 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in retinal pigment epithelium cerebellar vermis paraflocculus of cerebellum right hemisphere of cerebellum urethra secondary oocyte Achilles tendon nipple lactiferous gland human penis Top expressed in epithelium of lens neural layer of retina ciliary body retinal pigment epithelium iris pineal gland maxillary prominence lobe of cerebellum mandibular prominence cerebellar vermis More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding nucleotide binding ATP binding GTP binding transferase activity nucleotidyltransferase activity metal ion binding Cellular component nucleus Biological process multicellular organism development anatomical structure morphogenesis camera-type eye development positive regulation of cell population proliferation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4081 17116 Ensembl ENSG00000180660 ENSMUSG00000056947 UniProt Q13394 O70299 RefSeq (mRNA) NM_005584 NM_010750 RefSeq (protein) NP_005575 NP_034880 Location (UCSC) Chr 13: 35.47 – 35.48 Mb Chr 3: 55.69 – 55.69 Mb PubMed search
Wikidata
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Mab-21 like 1 is a protein that in humans is encoded by the MAB21L1 gene.

Function

This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008].

Further reading

• Meira-Lima IV, Zhao J, Sham P, Pereira AC, Krieger JE, Vallada H (September 2001). "Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3". Mol. Psychiatry. 6 (5): 565–9. doi:10.1038/sj.mp.4000898. PMID 11526470.
• Kim BG, Park YJ, Libermann TA, Cho JY (August 2011). "PTH regulates myleoid ELF-1-like factor (MEF)-induced MAB-21-like-1 (MAB21L1) expression through the JNK1 pathway". J. Cell. Biochem. 112 (8): 2051–61. doi:10.1002/jcb.23124. PMID 21465527. S2CID 5230907.
• Bruel AL, Masurel-Paulet A, Rivière JB, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze JF, Thauvin-Robinet C, Faivre L, Thevenon J (February 2017). "Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis". Clin. Genet. 91 (2): 333–338. doi:10.1111/cge.12794. PMID 27103078.
• de Oliveira Mann CC, Kiefersauer R, Witte G, Hopfner KP (June 2016). "Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1". Sci Rep. 6: 27498. Bibcode:2016NatSR...627498D. doi:10.1038/srep27498. PMC 4897736. PMID 27271801.
• Huang ZX, Xiang JW, Zhou L, Nie Q, Wang L, Chen ZG, Hu XH, Xiao Y, Qing WJ, Liu YF, Sun Q, Tang XC, Liu FY, Luo ZW, Liu WB, Li DW (2016). "The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye Development". Curr. Mol. Med. 16 (7): 660–667. doi:10.2174/1566524016666160824150729. PMID 27558071.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.