MB212_DANRE
ID MB212_DANRE Reviewed; 359 AA.
AC Q8UUZ1;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 100.
DE RecName: Full=Protein mab-21-like 2;
GN Name=mab21l2;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND DEVELOPMENTAL STAGE.
RX PubMed=11677058; DOI=10.1016/s0925-4773(01)00505-6;
RA Kudoh T., Dawid I.B.;
RT "Zebrafish mab21l2 is specifically expressed in the presumptive eye and
RT tectum from early somitogenesis onwards.";
RL Mech. Dev. 109:95-98(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND DEVELOPMENTAL STAGE.
RX PubMed=11960703; DOI=10.1016/s0925-4773(02)00012-6;
RA Wong Y.-M., Chow K.L.;
RT "Expression of zebrafish mab21 genes marks the differentiating eye,
RT midbrain and neural tube.";
RL Mech. Dev. 113:149-152(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Embryo;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
RX PubMed=15183718; DOI=10.1016/j.ydbio.2004.02.026;
RA Kennedy B.N., Stearns G.W., Smyth V.A., Ramamurthy V., van Eeden F.,
RA Ankoudinova I., Raible D., Hurley J.B., Brockerhoff S.E.;
RT "Zebrafish rx3 and mab21l2 are required during eye morphogenesis.";
RL Dev. Biol. 270:336-349(2004).
RN [5]
RP DEVELOPMENTAL STAGE.
RX PubMed=16934393; DOI=10.1016/j.mce.2006.06.010;
RA Wu S., Page L., Sherwood N.M.;
RT "A role for GnRH in early brain regionalization and eye development in
RT zebrafish.";
RL Mol. Cell. Endocrinol. 257:47-64(2006).
RN [6]
RP FUNCTION, SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE, DEVELOPMENTAL STAGE,
RP AND MUTAGENESIS OF 51-ARG-PHE-52.
RX PubMed=25719200; DOI=10.1371/journal.pgen.1005002;
RA Deml B., Kariminejad A., Borujerdi R.H., Muheisen S., Reis L.M.,
RA Semina E.V.;
RT "Mutations in MAB21L2 result in ocular Coloboma, microcornea and
RT cataracts.";
RL PLoS Genet. 11:E1005002-E1005002(2015).
CC -!- FUNCTION: Required for eye morphogenesis. May promote the survival of
CC proliferating retinal progenitor cells. {ECO:0000269|PubMed:15183718,
CC ECO:0000269|PubMed:25719200}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15183718,
CC ECO:0000269|PubMed:25719200}. Cytoplasm {ECO:0000269|PubMed:25719200}.
CC Note=Predominantly localizes to the nucleus, with some cytoplasmic
CC localization (PubMed:25719200). {ECO:0000269|PubMed:25719200}.
CC -!- DEVELOPMENTAL STAGE: Expressed from 11 hours post-fertilization (hpf).
CC Expression in the midbrain and optic primordia begins at the onset of
CC segmentation and increases to 14 hpf, remaining strong during lateral
CC migration of the optic primordia. Expressed in the neural tube and the
CC oblongated retinal epithelium from 18 hpf. Expression within the
CC differentiating eyes subsequently decreases from 22 hpf to 35 hpf, with
CC only weak expression at the edge of the lens observed from 35 hpf to 48
CC hpf. Expressed in the branchial pouches from 22 hpf, and in the
CC pharyngeal arches, ganglia and hindbrain and spinal cord neurons from
CC 24 hpf. Expressed in the lens perimeter and the differentiated amacrine
CC and ganglion cell layers at 72 hpf. {ECO:0000269|PubMed:11677058,
CC ECO:0000269|PubMed:11960703, ECO:0000269|PubMed:15183718,
CC ECO:0000269|PubMed:16934393, ECO:0000269|PubMed:25719200}.
CC -!- DISRUPTION PHENOTYPE: Severe lens and retinal defects leading to
CC lethality. {ECO:0000269|PubMed:25719200}.
CC -!- SIMILARITY: Belongs to the mab-21 family. {ECO:0000305}.
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DR EMBL; AY038031; AAK71495.1; -; mRNA.
DR EMBL; AY048748; AAL09174.1; -; Genomic_DNA.
DR EMBL; BC065628; AAH65628.1; -; mRNA.
DR RefSeq; NP_694507.1; NM_152975.2.
DR AlphaFoldDB; Q8UUZ1; -.
DR SMR; Q8UUZ1; -.
DR STRING; 7955.ENSDARP00000019528; -.
DR PaxDb; Q8UUZ1; -.
DR Ensembl; ENSDART00000014608; ENSDARP00000019528; ENSDARG00000015266.
DR GeneID; 117234; -.
DR KEGG; dre:117234; -.
DR CTD; 10586; -.
DR ZFIN; ZDB-GENE-011101-3; mab21l2.
DR eggNOG; KOG3963; Eukaryota.
DR GeneTree; ENSGT01050000244827; -.
DR HOGENOM; CLU_045315_0_0_1; -.
DR InParanoid; Q8UUZ1; -.
DR OMA; RCLSMLK; -.
DR OrthoDB; 771781at2759; -.
DR PhylomeDB; Q8UUZ1; -.
DR TreeFam; TF315012; -.
DR PRO; PR:Q8UUZ1; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 1.
DR Bgee; ENSDARG00000015266; Expressed in larva and 31 other tissues.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0043010; P:camera-type eye development; IMP:ZFIN.
DR GO; GO:0061386; P:closure of optic fissure; IMP:ZFIN.
DR GO; GO:0061303; P:cornea development in camera-type eye; IMP:ZFIN.
DR GO; GO:0048701; P:embryonic cranial skeleton morphogenesis; IMP:ZFIN.
DR GO; GO:0048048; P:embryonic eye morphogenesis; IMP:ZFIN.
DR GO; GO:0048484; P:enteric nervous system development; IMP:ZFIN.
DR GO; GO:0001654; P:eye development; IMP:ZFIN.
DR GO; GO:0002088; P:lens development in camera-type eye; IMP:ZFIN.
DR GO; GO:0002089; P:lens morphogenesis in camera-type eye; IMP:ZFIN.
DR GO; GO:0060041; P:retina development in camera-type eye; IMP:ZFIN.
DR InterPro; IPR024810; Mab-21_dom.
DR InterPro; IPR020950; Mab21-l2.
DR InterPro; IPR000772; Ricin_B_lectin.
DR PANTHER; PTHR10656:SF37; PTHR10656:SF37; 1.
DR Pfam; PF03281; Mab-21; 1.
DR SMART; SM01265; Mab-21; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Developmental protein; Nucleus; Reference proteome.
FT CHAIN 1..359
FT /note="Protein mab-21-like 2"
FT /id="PRO_0000312789"
FT MUTAGEN 51..52
FT /note="Missing: Mild lens phenotype and severe coloboma. A
FT small number of fish survive to adulthood."
FT /evidence="ECO:0000269|PubMed:25719200"
SQ 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
