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Protein mab-21-like 2

 MB212_DANRE             Reviewed;         359 AA.
Q8UUZ1;
04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
01-MAR-2002, sequence version 1.
25-OCT-2017, entry version 80.
RecName: Full=Protein mab-21-like 2;
Name=mab21l2;
Danio rerio (Zebrafish) (Brachydanio rerio).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
Cyprinidae; Danio.
NCBI_TaxID=7955;
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND DEVELOPMENTAL STAGE.
PubMed=11677058; DOI=10.1016/S0925-4773(01)00505-6;
Kudoh T., Dawid I.B.;
"Zebrafish mab21l2 is specifically expressed in the presumptive eye
and tectum from early somitogenesis onwards.";
Mech. Dev. 109:95-98(2001).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND DEVELOPMENTAL STAGE.
PubMed=11960703; DOI=10.1016/S0925-4773(02)00012-6;
Wong Y.-M., Chow K.L.;
"Expression of zebrafish mab21 genes marks the differentiating eye,
midbrain and neural tube.";
Mech. Dev. 113:149-152(2002).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Embryo;
NIH - Zebrafish Gene Collection (ZGC) project;
Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases.
[4]
FUNCTION, SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
PubMed=15183718; DOI=10.1016/j.ydbio.2004.02.026;
Kennedy B.N., Stearns G.W., Smyth V.A., Ramamurthy V., van Eeden F.,
Ankoudinova I., Raible D., Hurley J.B., Brockerhoff S.E.;
"Zebrafish rx3 and mab21l2 are required during eye morphogenesis.";
Dev. Biol. 270:336-349(2004).
[5]
DEVELOPMENTAL STAGE.
PubMed=16934393; DOI=10.1016/j.mce.2006.06.010;
Wu S., Page L., Sherwood N.M.;
"A role for GnRH in early brain regionalization and eye development in
zebrafish.";
Mol. Cell. Endocrinol. 257:47-64(2006).
[6]
FUNCTION, SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE, DEVELOPMENTAL
STAGE, AND MUTAGENESIS OF 51-ARG-PHE-52.
PubMed=25719200; DOI=10.1371/journal.pgen.1005002;
Deml B., Kariminejad A., Borujerdi R.H., Muheisen S., Reis L.M.,
Semina E.V.;
"Mutations in MAB21L2 result in ocular Coloboma, microcornea and
cataracts.";
PLoS Genet. 11:E1005002-E1005002(2015).
-!- FUNCTION: Required for eye morphogenesis. May promote the survival
of proliferating retinal progenitor cells.
{ECO:0000269|PubMed:15183718, ECO:0000269|PubMed:25719200}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15183718,
ECO:0000269|PubMed:25719200}. Cytoplasm
{ECO:0000269|PubMed:25719200}. Note=Predominantly localizes to the
nucleus, with some cytoplasmic localization (PubMed:25719200).
{ECO:0000269|PubMed:25719200}.
-!- DEVELOPMENTAL STAGE: Expressed from 11 hours post-fertilization
(hpf). Expression in the midbrain and optic primordia begins at
the onset of segmentation and increases to 14 hpf, remaining
strong during lateral migration of the optic primordia. Expressed
in the neural tube and the oblongated retinal epithelium from 18
hpf. Expression within the differentiating eyes subsequently
decreases from 22 hpf to 35 hpf, with only weak expression at the
edge of the lens observed from 35 hpf to 48 hpf. Expressed in the
branchial pouches from 22 hpf, and in the pharyngeal arches,
ganglia and hindbrain and spinal cord neurons from 24 hpf.
Expressed in the lens perimeter and the differentiated amacrine
and ganglion cell layers at 72 hpf. {ECO:0000269|PubMed:11677058,
ECO:0000269|PubMed:11960703, ECO:0000269|PubMed:15183718,
ECO:0000269|PubMed:16934393, ECO:0000269|PubMed:25719200}.
-!- DISRUPTION PHENOTYPE: Severe lens and retinal defects leading to
lethality. {ECO:0000269|PubMed:25719200}.
-!- SIMILARITY: Belongs to the mab-21 family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AY038031; AAK71495.1; -; mRNA.
EMBL; AY048748; AAL09174.1; -; Genomic_DNA.
EMBL; BC065628; AAH65628.1; -; mRNA.
RefSeq; NP_694507.1; NM_152975.2.
UniGene; Dr.15056; -.
SMR; Q8UUZ1; -.
STRING; 7955.ENSDARP00000019528; -.
PaxDb; Q8UUZ1; -.
Ensembl; ENSDART00000014608; ENSDARP00000019528; ENSDARG00000015266.
GeneID; 117234; -.
KEGG; dre:117234; -.
CTD; 10586; -.
ZFIN; ZDB-GENE-011101-3; mab21l2.
eggNOG; KOG3963; Eukaryota.
eggNOG; ENOG410XNRJ; LUCA.
GeneTree; ENSGT00510000046791; -.
HOGENOM; HOG000007337; -.
HOVERGEN; HBG053080; -.
InParanoid; Q8UUZ1; -.
OMA; CSGVWPR; -.
OrthoDB; EOG091G0939; -.
PhylomeDB; Q8UUZ1; -.
TreeFam; TF315012; -.
PRO; PR:Q8UUZ1; -.
Proteomes; UP000000437; Chromosome 1.
Bgee; ENSDARG00000015266; -.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0043010; P:camera-type eye development; IMP:ZFIN.
GO; GO:0048701; P:embryonic cranial skeleton morphogenesis; IMP:ZFIN.
GO; GO:0048048; P:embryonic eye morphogenesis; IMP:ZFIN.
GO; GO:0001654; P:eye development; IMP:ZFIN.
GO; GO:0002088; P:lens development in camera-type eye; IMP:ZFIN.
GO; GO:0060041; P:retina development in camera-type eye; IMP:ZFIN.
InterPro; IPR024810; Mab-21_dom.
InterPro; IPR020950; Mab21/Mab21-l2.
InterPro; IPR000772; Ricin_B_lectin.
PANTHER; PTHR10656:SF37; PTHR10656:SF37; 1.
Pfam; PF03281; Mab-21; 1.
SMART; SM01265; Mab-21; 1.
1: Evidence at protein level;
Complete proteome; Cytoplasm; Developmental protein; Nucleus;
Reference proteome.
CHAIN 1 359 Protein mab-21-like 2.
/FTId=PRO_0000312789.
MUTAGEN 51 52 Missing: Mild lens phenotype and severe
coloboma. A small number of fish survive
to adulthood.
{ECO:0000269|PubMed:25719200}.
SEQUENCE 359 AA; 41014 MW; B1E7B8CE3709337C CRC64;
MIATQAKLVY QLNKYYNERC QARKAAIAKT IREVCKVVSD VLKEVEVQEP RFISSLSEID
ARYEGMEVIA PNEFEVVLYL NQMGVFNFVD DGSLPGCAVL KLSDGRKRSM SLWVEFITAS
GYLSARKIRS RFQTLVAQAV DKCSYRDVVK MVADTSEVKL RIRERYVVQI TPAFKCTGIW
PRSAAQWPMP HIPWPGPNRV AEVKAEGFNL LSKECYSLTG KQSSAESDAW VLQFAEAENR
LLMSGCRKKC LSVLKTLRDR HLELPGQPLN NYHMKTLLLY ECEKHPRETD WDESCLGDRL
NGILLQLISC LQCRRCPHYF LPNLDLFQGK PHSALETAAK QTWRLAREIL TNAKSLDKL


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