PGSF1_HUMAN
ID PGSF1_HUMAN Reviewed; 128 AA.
AC Q8N6C7; D6W630; Q17RJ9; Q8N6C6;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 25-MAY-2022, entry version 88.
DE RecName: Full=Putative uncharacterized protein encoded by MIR7-3HG;
DE AltName: Full=Pituitary gland-specific factor 1;
GN Name=MIR7-3HG; Synonyms=C19orf30, LINC00306, NCRNA00306, PGSF1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
RC TISSUE=Pituitary;
RX PubMed=11854097; DOI=10.1677/jme.0.0280033;
RA Tanaka S., Tatsumi K., Okubo K., Itoh K., Kawamoto S., Matsubara K.,
RA Amino N.;
RT "Expression profile of active genes in the human pituitary gland.";
RL J. Mol. Endocrinol. 28:33-44(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS SER-73 AND
RP GLN-91.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=PGSF1a;
CC IsoId=Q8N6C7-1; Sequence=Displayed;
CC Name=2; Synonyms=PGSF1b;
CC IsoId=Q8N6C7-2; Sequence=VSP_014375, VSP_014376;
CC -!- TISSUE SPECIFICITY: High expression in pituitary gland and weak in
CC pancreas. {ECO:0000269|PubMed:11854097}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- CAUTION: Product of a dubious CDS prediction. May be a non-coding RNA.
CC {ECO:0000305}.
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DR EMBL; AB058892; BAB40233.2; -; mRNA.
DR EMBL; AB058893; BAB40234.2; -; mRNA.
DR EMBL; AC006537; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471139; EAW69196.1; -; Genomic_DNA.
DR EMBL; CH471139; EAW69197.1; -; Genomic_DNA.
DR EMBL; BC117294; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC117296; -; NOT_ANNOTATED_CDS; mRNA.
DR AlphaFoldDB; Q8N6C7; -.
DR BioMuta; HGNC:30049; -.
DR PaxDb; Q8N6C7; -.
DR PRIDE; Q8N6C7; -.
DR ProteomicsDB; 72157; -. [Q8N6C7-2]
DR GeneCards; MIR7-3HG; -.
DR HGNC; HGNC:30049; MIR7-3HG.
DR neXtProt; NX_Q8N6C7; -.
DR InParanoid; Q8N6C7; -.
DR PathwayCommons; Q8N6C7; -.
DR Pharos; Q8N6C7; Tdark.
DR PRO; PR:Q8N6C7; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q8N6C7; protein.
PE 5: Uncertain;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..128
FT /note="Putative uncharacterized protein encoded by MIR7-
FT 3HG"
FT /id="PRO_0000058365"
FT VAR_SEQ 83..91
FT /note="LGMHSLHLH -> PPKVLGLQA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11854097"
FT /id="VSP_014375"
FT VAR_SEQ 92..128
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11854097"
FT /id="VSP_014376"
FT VARIANT 73
FT /note="R -> S (in dbSNP:rs11878617)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030681"
FT VARIANT 91
FT /note="H -> Q (in dbSNP:rs3760955)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030682"
SQ SEQUENCE 128 AA; 14321 MW; 7EAF4A1A025EE50A CRC64;
MPGMRLVCRL AHGHFPRKGQ RRRSLTVWKA ETSRADCLGA PNIRTAPLGR SEKRTAICFS
TGAQDSSQRA PFRLQNPGQL LQLGMHSLHL HPELPTTDPA FFCKLHFIKG NDPYCLTISH
VKSVLTFS
