MIRH1_HUMAN
ID MIRH1_HUMAN Reviewed; 70 AA.
AC Q75NE6; A4QMU7; Q75NE7;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 25-MAY-2022, entry version 71.
DE RecName: Full=Putative microRNA 17 host gene protein;
DE AltName: Full=Putative microRNA host gene 1 protein;
GN Name=MIR17HG; Synonyms=C13orf25, MIRH1, MIRHG1;
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).
RX PubMed=15126345; DOI=10.1158/0008-5472.can-03-3773;
RA Ota A., Tagawa H., Karnan S., Tsuzuki S., Karpas A., Kira S., Yoshida Y.,
RA Seto M.;
RT "Identification and characterization of a novel gene, C13orf25, as a target
RT for 13q31-q32 amplification in malignant lymphoma.";
RL Cancer Res. 64:3087-3095(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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).
RN [4]
RP IDENTIFICATION.
RX PubMed=16266980; DOI=10.1158/0008-5472.can-05-2352;
RA Hayashita Y., Osada H., Tatematsu Y., Yamada H., Yanagisawa K., Tomida S.,
RA Yatabe Y., Kawahara K., Sekido Y., Takahashi T.;
RT "A polycistronic microRNA cluster, miR-17-92, is overexpressed in human
RT lung cancers and enhances cell proliferation.";
RL Cancer Res. 65:9628-9632(2005).
RN [5]
RP INVOLVEMENT IN FGLDS2.
RX PubMed=21892160; DOI=10.1038/ng.915;
RA de Pontual L., Yao E., Callier P., Faivre L., Drouin V., Cariou S.,
RA Van Haeringen A., Genevieve D., Goldenberg A., Oufadem M., Manouvrier S.,
RA Munnich A., Vidigal J.A., Vekemans M., Lyonnet S., Henrion-Caude A.,
RA Ventura A., Amiel J.;
RT "Germline deletion of the miR-17 approximately 92 cluster causes skeletal
RT and growth defects in humans.";
RL Nat. Genet. 43:1026-1030(2011).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=B;
CC IsoId=Q75NE6-1; Sequence=Displayed;
CC Name=2; Synonyms=A;
CC IsoId=Q75NE6-2; Sequence=VSP_022775, VSP_022776;
CC -!- TISSUE SPECIFICITY: Highly expressed in B-cell lymphoma and lung
CC cancer.
CC -!- DISEASE: Feingold syndrome 2 (FGLDS2) [MIM:614326]: A syndrome
CC characterized by microcephaly, short stature, and digital abnormalities
CC including brachydactyly, brachymesophalangy of the second and fifth
CC fingers, hypoplastic thumbs of variable severity, and cutaneous
CC syndactyly of the toes. {ECO:0000269|PubMed:21892160}. Note=The disease
CC is caused by variants affecting the gene represented in this entry.
CC Microdeletions encompassing the MIR17HG locus can be responsible of
CC FGLDS2.
CC -!- MISCELLANEOUS: The microRNAs that are encoded in a MIR17HG intron
CC stimulate growth of cultured lung cancer cells.
CC -!- CAUTION: Product of a dubious CDS prediction. The MIR17HG transcript
CC shows predominant nuclear localization and may not be efficiently
CC translated into protein. {ECO:0000305}.
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DR EMBL; AB176707; BAD18386.1; -; mRNA.
DR EMBL; AB176708; BAD18387.1; -; mRNA.
DR EMBL; AL138714; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL162375; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC109082; AAI09083.1; -; mRNA.
DR AlphaFoldDB; Q75NE6; -.
DR BioMuta; HGNC:23564; -.
DR PRIDE; Q75NE6; -.
DR ProteomicsDB; 68645; -. [Q75NE6-1]
DR ProteomicsDB; 68646; -. [Q75NE6-2]
DR GeneCards; MIR17HG; -.
DR HGNC; HGNC:23564; MIR17HG.
DR MalaCards; MIR17HG; -.
DR MIM; 609415; gene.
DR MIM; 614326; phenotype.
DR neXtProt; NX_Q75NE6; -.
DR Orphanet; 391646; Feingold syndrome type 2.
DR InParanoid; Q75NE6; -.
DR PathwayCommons; Q75NE6; -.
DR ChiTaRS; MIR17HG; human.
DR Pharos; Q75NE6; Tdark.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q75NE6; protein.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
PE 5: Uncertain;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..70
FT /note="Putative microRNA 17 host gene protein"
FT /id="PRO_0000274511"
FT TOPO_DOM 1..20
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 21..43
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 44..70
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT VAR_SEQ 14..32
FT /note="YTWTKLPLNVPKLVLIYLQ -> QTCLTTSQTWVFSCSLKTH (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15126345"
FT /id="VSP_022775"
FT VAR_SEQ 33..70
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15126345"
FT /id="VSP_022776"
SQ SEQUENCE 70 AA; 8163 MW; 721AE2157D5735EB CRC64;
MFCHVDVKIS SKRYTWTKLP LNVPKLVLIY LQSHFVLFFF SMCQSIWERP AIGRATTSSA
SWMVGYDCLL