MAB21L1

MAB21L1
Identifiers
Aliases	MAB21L1, CAGR1, Nbla00126, mab-21 like 1, COFG
External IDs	OMIM: 601280; MGI: 1333773; GeneCards: MAB21L1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5EOG, 5EOM
Gene location (Human)
Chr.	Chromosome 13 (human)
End	35,476,689 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	55,692,422 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	4081
	17116
	ENSG00000180660
	ENSMUSG00000056947
	Q13394
	O70299
	NM_005584
	NM_010750
	NP_005575
	NP_034880
	Wikidata
View/Edit Human	View/Edit Mouse

Mab-21 like 1 is a protein that in humans is encoded by the MAB21L1 gene.^[5]

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].

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000180660 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000056947 – 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.
^ "Entrez Gene: Mab-21 like 1". Retrieved 2020-04-12.

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.

This article on a gene on human chromosome 13 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000180660 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000056947 – Ensembl, May 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.

[entrez-5] "Entrez Gene: Mab-21 like 1". Retrieved 2020-04-12.

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MAB21L1

Function

References

Further reading

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