HRURF_HUMAN
ID HRURF_HUMAN Reviewed; 34 AA.
AC P0DUH7;
DT 29-SEP-2021, integrated into UniProtKB/Swiss-Prot.
DT 29-SEP-2021, sequence version 1.
DT 03-AUG-2022, entry version 4.
DE RecName: Full=Protein HRURF {ECO:0000305};
DE AltName: Full=HR upstream open reading frame protein {ECO:0000305};
GN Name=HRURF {ECO:0000312|HGNC:HGNC:55085}; Synonyms=U2HR;
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], FUNCTION, INVOLVEMENT IN HYPT4, VARIANTS HYPT4
RP 7-SER--PRO-34 DEL; ALA-25 AND HIS-28, AND CHARACTERIZATION OF VARIANTS
RP HYPT4 3-GLN--PRO-34 DEL; 7-SER--PRO-34 DEL; ASN-24; ALA-25; LYS-26 AND
RP HIS-28.
RX PubMed=19122663; DOI=10.1038/ng.276;
RA Wen Y., Liu Y., Xu Y., Zhao Y., Hua R., Wang K., Sun M., Li Y., Yang S.,
RA Zhang X.J., Kruse R., Cichon S., Betz R.C., Nothen M.M., van Steensel M.A.,
RA van Geel M., Steijlen P.M., Hohl D., Huber M., Dunnill G.S., Kennedy C.,
RA Messenger A., Munro C.S., Terrinoni A., Hovnanian A., Bodemer C.,
RA de Prost Y., Paller A.S., Irvine A.D., Sinclair R., Green J., Shang D.,
RA Liu Q., Luo Y., Jiang L., Chen H.D., Lo W.H., McLean W.H., He C.D.,
RA Zhang X.;
RT "Loss-of-function mutations of an inhibitory upstream ORF in the human
RT hairless transcript cause Marie Unna hereditary hypotrichosis.";
RL Nat. Genet. 41:228-233(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP INVOLVEMENT IN HYPT4, AND VARIANTS HYPT4 ALA-25 AND LYS-26.
RX PubMed=11069461; DOI=10.1046/j.1365-2133.2000.03781.x;
RA Cichon S., Kruse R., Hillmer A.M., Kukuk G., Anker M., Altland K.,
RA Knapp M., Propping P., Noethen M.M.;
RT "A distinct gene close to the hairless locus on chromosome 8p underlies
RT hereditary Marie Unna type hypotrichosis in a German family.";
RL Br. J. Dermatol. 143:811-814(2000).
RN [4]
RP INVOLVEMENT IN HYPT4, AND VARIANTS HYPT4 3-GLN--PRO-34 DEL; ASN-24 AND
RP ALA-25.
RX PubMed=10777357; DOI=10.1046/j.1523-1747.2000.02001.x;
RA Sreekumar G.P., Roberts J.L., Wong C.Q., Stenn K.S., Parimoo S.;
RT "Marie Unna hereditary hypotrichosis gene maps to human chromosome 8p21
RT near hairless.";
RL J. Invest. Dermatol. 114:595-597(2000).
CC -!- FUNCTION: May function as an inhibitory translational control element
CC that can negatively regulate protein translation of HR gene.
CC {ECO:0000269|PubMed:19122663}.
CC -!- DISEASE: Hypotrichosis 4 (HYPT4) [MIM:146550]: An autosomal dominant
CC condition characterized by reduced amount of hair, alopecia, little or
CC no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in
CC early childhood. {ECO:0000269|PubMed:10777357,
CC ECO:0000269|PubMed:11069461, ECO:0000269|PubMed:19122663}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
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DR EMBL; AC105206; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR SMR; P0DUH7; -.
DR Ensembl; ENST00000518377.2; ENSP00000505144.1; ENSG00000288677.1.
DR MANE-Select; ENST00000518377.3; ENSP00000505144.1; NM_001394132.1; NP_001381061.1.
DR HGNC; HGNC:55085; HRURF.
DR MIM; 146550; phenotype.
DR MIM; 619257; gene.
DR neXtProt; NX_P0DUH7; -.
DR Proteomes; UP000005640; Chromosome 8.
DR GO; GO:0006417; P:regulation of translation; IEA:UniProtKB-KW.
PE 1: Evidence at protein level;
KW Disease variant; Hypotrichosis; Reference proteome; Translation regulation.
FT CHAIN 1..34
FT /note="Protein HRURF"
FT /id="PRO_0000453958"
FT VARIANT 3..34
FT /note="Missing (in HYPT4; unknown pathological
FT significance; increases HR protein expression; abolishes
FT the inhibitory effect on HR translation;
FT dbSNP:rs267606867)"
FT /evidence="ECO:0000269|PubMed:10777357,
FT ECO:0000269|PubMed:19122663"
FT /id="VAR_085203"
FT VARIANT 7..34
FT /note="Missing (in HYPT4; unknown pathological
FT significance; increases HR protein expression; abolishes
FT the inhibitory effect on HR translation)"
FT /evidence="ECO:0000269|PubMed:19122663"
FT /id="VAR_085204"
FT VARIANT 24
FT /note="I -> N (in HYPT4; unknown pathological significance;
FT increases HR protein expression; abolishes the inhibitory
FT effect on HR translation)"
FT /evidence="ECO:0000269|PubMed:10777357,
FT ECO:0000269|PubMed:19122663"
FT /id="VAR_085205"
FT VARIANT 25
FT /note="P -> A (in HYPT4; unknown pathological significance;
FT increases HR protein expression; abolishes the inhibitory
FT effect on HR translation; dbSNP:rs267606868)"
FT /evidence="ECO:0000269|PubMed:10777357,
FT ECO:0000269|PubMed:11069461, ECO:0000269|PubMed:19122663"
FT /id="VAR_085206"
FT VARIANT 26
FT /note="E -> K (in HYPT4; unknown pathological significance;
FT increases HR protein expression; abolishes the inhibitory
FT effect on HR translation)"
FT /evidence="ECO:0000269|PubMed:11069461,
FT ECO:0000269|PubMed:19122663"
FT /id="VAR_085207"
FT VARIANT 28
FT /note="D -> H (in HYPT4; unknown pathological significance;
FT increases HR protein expression; abolishes the inhibitory
FT effect on HR translation)"
FT /evidence="ECO:0000269|PubMed:19122663"
FT /id="VAR_085208"
SQ SEQUENCE 34 AA; 3757 MW; 1E0B3623D854F317 CRC64;
MAQPTASAQK LVRPIRAVCR ILQIPESDPS NLRP
