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Putative microRNA 17 host gene protein (Putative microRNA host gene 1 protein)

 MIRH1_HUMAN             Reviewed;          70 AA.
Q75NE6; A4QMU7; Q75NE7;
06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
05-JUL-2004, sequence version 1.
20-JUN-2018, entry version 60.
RecName: Full=Putative microRNA 17 host gene protein;
AltName: Full=Putative microRNA host gene 1 protein;
Name=MIR17HG; Synonyms=C13orf25, MIRH1, MIRHG1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
PubMed=15126345; DOI=10.1158/0008-5472.CAN-03-3773;
Ota A., Tagawa H., Karnan S., Tsuzuki S., Karpas A., Kira S.,
Yoshida Y., Seto M.;
"Identification and characterization of a novel gene, C13orf25, as a
target for 13q31-q32 amplification in malignant lymphoma.";
Cancer Res. 64:3087-3095(2004).
PubMed=15057823; DOI=10.1038/nature02379;
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E.,
Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E.,
Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.,
Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R.,
Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S.,
Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M.,
Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J.,
Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E.,
Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L.,
Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J.,
Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S.,
Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J.,
Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M.,
King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A.,
Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S.,
Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I.,
Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S.,
Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A.,
Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B.,
Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L.,
Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M.,
Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
PubMed=16266980; DOI=10.1158/0008-5472.CAN-05-2352;
Hayashita Y., Osada H., Tatematsu Y., Yamada H., Yanagisawa K.,
Tomida S., Yatabe Y., Kawahara K., Sekido Y., Takahashi T.;
"A polycistronic microRNA cluster, miR-17-92, is overexpressed in
human lung cancers and enhances cell proliferation.";
Cancer Res. 65:9628-9632(2005).
PubMed=21892160; DOI=10.1038/ng.915;
de Pontual L., Yao E., Callier P., Faivre L., Drouin V., Cariou S.,
Van Haeringen A., Genevieve D., Goldenberg A., Oufadem M.,
Manouvrier S., Munnich A., Vidigal J.A., Vekemans M., Lyonnet S.,
Henrion-Caude A., Ventura A., Amiel J.;
"Germline deletion of the miR-17 approximately 92 cluster causes
skeletal and growth defects in humans.";
Nat. Genet. 43:1026-1030(2011).
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
protein {ECO:0000305}.
Event=Alternative splicing; Named isoforms=2;
Name=1; Synonyms=B;
IsoId=Q75NE6-1; Sequence=Displayed;
Name=2; Synonyms=A;
IsoId=Q75NE6-2; Sequence=VSP_022775, VSP_022776;
-!- TISSUE SPECIFICITY: Highly expressed in B-cell lymphoma and lung
-!- DISEASE: Feingold syndrome 2 (FGLDS2) [MIM:614326]: A syndrome
characterized by microcephaly, short stature, and digital
abnormalities including brachydactyly, brachymesophalangy of the
second and fifth fingers, hypoplastic thumbs of variable severity,
and cutaneous syndactyly of the toes.
{ECO:0000269|PubMed:21892160}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
Microdeletions encompassing the MIR17HG locus can be responsible
of FGLDS2.
-!- MISCELLANEOUS: The microRNAs that are encoded in a MIR17HG intron
stimulate growth of cultured lung cancer cells.
-!- CAUTION: Product of a dubious CDS prediction. The MIR17HG
transcript shows predominant nuclear localization and may not be
efficiently translated into protein. {ECO:0000305}.
Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
Distributed under the Creative Commons Attribution (CC BY 4.0) License
EMBL; AB176707; BAD18386.1; -; mRNA.
EMBL; AB176708; BAD18387.1; -; mRNA.
EMBL; AL138714; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL162375; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC109082; AAI09083.1; -; mRNA.
SMR; Q75NE6; -.
PRIDE; Q75NE6; -.
ProteomicsDB; 68645; -.
ProteomicsDB; 68646; -. [Q75NE6-2]
DisGeNET; 407975; -.
GeneCards; MIR17HG; -.
HGNC; HGNC:23564; MIR17HG.
MalaCards; MIR17HG; -.
MIM; 609415; gene.
MIM; 614326; phenotype.
neXtProt; NX_Q75NE6; -.
Orphanet; 391646; Feingold syndrome type 2.
InParanoid; Q75NE6; -.
Proteomes; UP000005640; Unplaced.
CleanEx; HS_MIRHG1; -.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
5: Uncertain;
Alternative splicing; Complete proteome; Membrane; Reference proteome;
Transmembrane; Transmembrane helix.
CHAIN 1 70 Putative microRNA 17 host gene protein.
TOPO_DOM 1 20 Cytoplasmic. {ECO:0000255}.
TRANSMEM 21 43 Helical. {ECO:0000255}.
TOPO_DOM 44 70 Extracellular. {ECO:0000255}.
H (in isoform 2).
VAR_SEQ 33 70 Missing (in isoform 2).
SEQUENCE 70 AA; 8163 MW; 721AE2157D5735EB CRC64;

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