ID   FA50A_DANRE             Reviewed;         341 AA.
AC   Q568K9;
DT   08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   10-MAY-2005, sequence version 1.
DT   03-AUG-2022, entry version 62.
DE   RecName: Full=Protein FAM50A;
GN   Name=fam50a;
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 [LARGE SCALE MRNA].
RC   TISSUE=Ovary;
RG   NIH - Zebrafish Gene Collection (ZGC) project;
RL   Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX   PubMed=32703943; DOI=10.1038/s41467-020-17452-6;
RA   Lee Y.R., Khan K., Armfield-Uhas K., Srikanth S., Thompson N.A., Pardo M.,
RA   Yu L., Norris J.W., Peng Y., Gripp K.W., Aleck K.A., Li C., Spence E.,
RA   Choi T.I., Kwon S.J., Park H.M., Yu D., Do Heo W., Mooney M.R., Baig S.M.,
RA   Wentzensen I.M., Telegrafi A., McWalter K., Moreland T., Roadhouse C.,
RA   Ramsey K., Lyons M.J., Skinner C., Alexov E., Katsanis N., Stevenson R.E.,
RA   Choudhary J.S., Adams D.J., Kim C.H., Davis E.E., Schwartz C.E.;
RT   "Mutations in FAM50A suggest that Armfield XLID syndrome is a
RT   spliceosomopathy.";
RL   Nat. Commun. 11:3698-3698(2020).
CC   -!- FUNCTION: Probably involved in the regulation of pre-mRNA splicing.
CC       {ECO:0000269|PubMed:32703943}.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q14320}.
CC   -!- DEVELOPMENTAL STAGE: Widely expressed prior to and throughout
CC       gastrulation, and in mid-somitic embryos. From 24 hours post-
CC       fertilization (hpf) onward, and up to the latest time point assessed
CC       (72 hpf), expression is detected in anterior structures including the
CC       brain, eye and mandible. {ECO:0000269|PubMed:32703943}.
CC   -!- DISRUPTION PHENOTYPE: Fam50a depletion results in early neurogenesis
CC       defects, abnormal anterior development impacting the brain, eyes and
CC       cartilage apparent at day 5 post-fertilization (5 dpf), and lethality
CC       occurring by 6 dpf. {ECO:0000269|PubMed:32703943}.
CC   -!- SIMILARITY: Belongs to the FAM50 family. {ECO:0000305}.
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DR   EMBL; BC092815; AAH92815.1; -; mRNA.
DR   RefSeq; NP_001017636.1; NM_001017636.1.
DR   AlphaFoldDB; Q568K9; -.
DR   STRING; 7955.ENSDARP00000028381; -.
DR   PaxDb; Q568K9; -.
DR   GeneID; 550329; -.
DR   KEGG; dre:550329; -.
DR   CTD; 9130; -.
DR   ZFIN; ZDB-GENE-050417-110; fam50a.
DR   eggNOG; KOG2894; Eukaryota.
DR   InParanoid; Q568K9; -.
DR   OrthoDB; 1061864at2759; -.
DR   PhylomeDB; Q568K9; -.
DR   PRO; PR:Q568K9; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Unplaced.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0006325; P:chromatin organization; IBA:GO_Central.
DR   GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
DR   GO; GO:0008380; P:RNA splicing; IEA:UniProtKB-KW.
DR   InterPro; IPR007005; XAP5.
DR   PANTHER; PTHR12722; PTHR12722; 1.
DR   Pfam; PF04921; XAP5; 1.
PE   2: Evidence at transcript level;
KW   mRNA processing; mRNA splicing; Nucleus; Reference proteome.
FT   CHAIN           1..341
FT                   /note="Protein FAM50A"
FT                   /id="PRO_0000326508"
FT   REGION          1..27
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          80..147
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        80..123
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        124..147
FT                   /note="Acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   341 AA;  40542 MW;  F0C47CFEE7D31A9C CRC64;
     MAQYKGAASE AGRAMQLMKK REREREQLEQ LKQKIAEDNM VKSNIDKKFS AHYDAVEQEL
     KSSTVGLVTL NDMKAKQEAL VKEREKQLAK KEQSKELQLK LEKQKEKKRK EEQKRKIASL
     SFNPDEGEDE EEEEEEEEEE EEDEIEEEIC LPVKKKKLGK NPDVDTSFLP DRDREEEENR
     LREELRQEWE RKQEKIKSEE IEITFSYWDG SGHRKTVKMK KGNTIQQFLQ RALEVLRKDF
     SELRSAGVEH LMYIKEDLII PHHHSFYDFI VTKARGKSGP LFNFDVHDDI RLVNDATVEK
     DESHAGKVVL RSWYEKNKHI FPASRWEPYD PEKKWDKYTI R