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2024-04-26 08:26:25, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_022356 2696 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1
(LEPRE1), transcript variant 1, mRNA.
ACCESSION NM_022356
VERSION NM_022356.3 GI:186928834
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2696)
AUTHORS Cabral,W.A., Barnes,A.M., Adeyemo,A., Cushing,K., Chitayat,D.,
Porter,F.D., Panny,S.R., Gulamali-Majid,F., Tishkoff,S.A.,
Rebbeck,T.R., Gueye,S.M., Bailey-Wilson,J.E., Brody,L.C.,
Rotimi,C.N. and Marini,J.C.
TITLE A founder mutation in LEPRE1 carried by 1.5% of West Africans and
0.4% of African Americans causes lethal recessive osteogenesis
imperfecta
JOURNAL Genet. Med. 14 (5), 543-551 (2012)
PUBMED 22281939
REMARK GeneRIF: 0.4% of Mid-Atlantic African Americans and 1.48% West
Africans carry mutation in LEPRE1 which causes lethal recessive
osteogenesis imperfecta.
REFERENCE 2 (bases 1 to 2696)
AUTHORS Zhang,Z.L., Zhang,H., Ke,Y.H., Yue,H., Xiao,W.J., Yu,J.B., Gu,J.M.,
Hu,W.W., Wang,C., He,J.W. and Fu,W.Z.
TITLE The identification of novel mutations in COL1A1, COL1A2, and LEPRE1
genes in Chinese patients with osteogenesis imperfecta
JOURNAL J. Bone Miner. Metab. 30 (1), 69-77 (2012)
PUBMED 21667357
REMARK GeneRIF: Mutation analyses were performed for COL1A1, COL1A2,
CRTAP, and LEPRE1 in a cohort of 58 unrelated Chinese patients with
osteogenesis imperfecta.
REFERENCE 3 (bases 1 to 2696)
AUTHORS Takagi,M., Ishii,T., Barnes,A.M., Weis,M., Amano,N., Tanaka,M.,
Fukuzawa,R., Nishimura,G., Eyre,D.R., Marini,J.C. and Hasegawa,T.
TITLE A novel mutation in LEPRE1 that eliminates only the KDEL ER-
retrieval sequence causes non-lethal osteogenesis imperfecta
JOURNAL PLoS ONE 7 (5), E36809 (2012)
PUBMED 22615817
REMARK GeneRIF: This is the first report of a mutation in LEPRE1 that
eliminates only the KDEL ER-retrieval sequence, whereas other
functional domains remain intact
REFERENCE 4 (bases 1 to 2696)
AUTHORS van Dijk,F.S., Nikkels,P.G., den Hollander,N.S., Nesbitt,I.M., van
Rijn,R.R., Cobben,J.M. and Pals,G.
TITLE Lethal/severe osteogenesis imperfecta in a large family: a novel
homozygous LEPRE1 mutation and bone histological findings
JOURNAL Pediatr. Dev. Pathol. 14 (3), 228-234 (2011)
PUBMED 20946018
REMARK GeneRIF: We report a large consanguineous Turkish family in which
multiple individuals are affected with autosomal recessive lethal
or severe osteogenesis imperfecta (OI) due to a novel homozygous
LEPRE1 mutation
REFERENCE 5 (bases 1 to 2696)
AUTHORS Marini,J.C., Cabral,W.A. and Barnes,A.M.
TITLE Null mutations in LEPRE1 and CRTAP cause severe recessive
osteogenesis imperfecta
JOURNAL Cell Tissue Res. 339 (1), 59-70 (2010)
PUBMED 19862557
REMARK GeneRIF: Null mutations in LEPRE1 and CRTAP cause severe recessive
osteogenesis imperfecta.
Review article
REFERENCE 6 (bases 1 to 2696)
AUTHORS Willaert,A., Malfait,F., Symoens,S., Gevaert,K., Kayserili,H.,
Megarbane,A., Mortier,G., Leroy,J.G., Coucke,P.J. and De Paepe,A.
TITLE Recessive osteogenesis imperfecta caused by LEPRE1 mutations:
clinical documentation and identification of the splice form
responsible for prolyl 3-hydroxylation
JOURNAL J. Med. Genet. 46 (4), 233-241 (2009)
PUBMED 19088120
REMARK GeneRIF: Findings suggest that the 3-hydroxylation function of P3H1
is restricted to the 736AA splice form.
REFERENCE 7 (bases 1 to 2696)
AUTHORS Foster,L.J., Rudich,A., Talior,I., Patel,N., Huang,X.,
Furtado,L.M., Bilan,P.J., Mann,M. and Klip,A.
TITLE Insulin-dependent interactions of proteins with GLUT4 revealed
through stable isotope labeling by amino acids in cell culture
(SILAC)
JOURNAL J. Proteome Res. 5 (1), 64-75 (2006)
PUBMED 16396496
REFERENCE 8 (bases 1 to 2696)
AUTHORS Vranka,J.A., Sakai,L.Y. and Bachinger,H.P.
TITLE Prolyl 3-hydroxylase 1, enzyme characterization and identification
of a novel family of enzymes
JOURNAL J. Biol. Chem. 279 (22), 23615-23621 (2004)
PUBMED 15044469
REFERENCE 9 (bases 1 to 2696)
AUTHORS Kaul,S.C., Sugihara,T., Yoshida,A., Nomura,H. and Wadhwa,R.
TITLE Gros1, a potential growth suppressor on chromosome 1: its identity
to basement membrane-associated proteoglycan, leprecan
JOURNAL Oncogene 19 (32), 3576-3583 (2000)
PUBMED 10951563
REFERENCE 10 (bases 1 to 2696)
AUTHORS Wassenhove-McCarthy,D.J. and McCarthy,K.J.
TITLE Molecular characterization of a novel basement membrane-associated
proteoglycan, leprecan
JOURNAL J. Biol. Chem. 274 (35), 25004-25017 (1999)
PUBMED 10455179
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC098484.2, AK027697.1 and
R67284.1.
This sequence is a reference standard in the RefSeqGene project.
On Apr 29, 2008 this sequence version replaced gi:21361917.
Summary: This gene encodes an enzyme that is a member of the
collagen prolyl hydroxylase family. These enzymes are localized to
the endoplasmic reticulum and their activity is required for proper
collagen synthesis and assembly. Mutations in this gene are
associated with osteogenesis imperfecta type VIII. Three
alternatively spliced transcript variants encoding different
isoforms have been described. Other variants may exist, but their
biological validity has not been determined. [provided by RefSeq,
Aug 2011].
Transcript Variant: This variant (1) differs in the 3' UTR and
coding sequence compared to variant 3. The resulting isoform (1)
has a shorter and distinct C-terminus compared to isoform 3.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF097432.1, AK027697.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-61 AC098484.2 115002-115062 c
62-2580 AK027697.1 1-2519
2581-2581 AC098484.2 94418-94418 c
2582-2646 AK027697.1 2521-2585
2647-2696 R67284.1 1-50 c
FEATURES Location/Qualifiers
source 1..2696
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p34.1"
gene 1..2696
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/note="leucine proline-enriched proteoglycan (leprecan) 1"
/db_xref="GeneID:64175"
/db_xref="HGNC:19316"
/db_xref="MIM:610339"
exon 1..578
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
CDS 114..2324
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/EC_number="1.14.11.7"
/note="isoform 1 precursor is encoded by transcript
variant 1; prolyl 3-hydroxylase 1; growth suppressor 1;
leprecan; leucine- and proline-enriched proteoglycan 1"
/codon_start=1
/product="prolyl 3-hydroxylase 1 isoform 1 precursor"
/protein_id="NP_071751.3"
/db_xref="GI:186928835"
/db_xref="CCDS:CCDS472.2"
/db_xref="GeneID:64175"
/db_xref="HGNC:19316"
/db_xref="MIM:610339"
/translation="
MAVRALKLLTTLLAVVAAASQAEVESEAGWGMVTPDLLFAEGTAAYARGDWPGVVLSMERALRSRAALRALRLRCRTQCAADFPWELDPDWSPSPAQASGAAALRDLSFFGGLLRRAACLRRCLGPPAAHSLSEEMELEFRKRSPYNYLQVAYFKINKLEKAVAAAHTFFVGNPEHMEMQQNLDYYQTMSGVKEADFKDLETQPHMQEFRLGVRLYSEEQPQEAVPHLEAALQEYFVAYEECRALCEGPYDYDGYNYLEYNADLFQAITDHYIQVLNCKQNCVTELASHPSREKPFEDFLPSHYNYLQFAYYNIGNYTQAVECAKTYLLFFPNDEVMNQNLAYYAAMLGEEHTRSIGPRESAKEYRQRSLLEKELLFFAYDVFGIPFVDPDSWTPEEVIPKRLQEKQKSERETAVRISQEIGNLMKEIETLVEEKTKESLDVSRLTREGGPLLYEGISLTMNSKLLNGSQRVVMDGVISDHECQELQRLTNVAATSGDGYRGQTSPHTPNEKFYGVTVFKALKLGQEGKVPLQSAHLYYNVTEKVRRIMESYFRLDTPLYFSYSHLVCRTAIEEVQAERKDDSHPVHVDNCILNAETLVCVKEPPAYTFRDYSAILYLNGDFDGGNFYFTELDAKTVTAEVQPQCGRAVGFSSGTENPHGVKAVTRGQRCAIALWFTLDPRHSERDRVQADDLVKMLFSPEEMDLSQEQPLDAQQGPPEPAQESLSGSESKPKDEL
"
sig_peptide 114..179
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="non-experimental evidence, no additional
details recorded"
/note="Potential; propagated from UniProtKB/Swiss-Prot
(Q32P28.2)"
mat_peptide 180..2321
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/product="Prolyl 3-hydroxylase 1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q32P28.2)"
misc_feature 216..317
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q32P28.2);
Region: TPR 1"
misc_feature 540..641
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q32P28.2);
Region: TPR 2"
misc_feature 726..827
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q32P28.2);
Region: TPR 3"
misc_feature 1014..1115
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q32P28.2);
Region: TPR 4"
misc_feature 1548..2144
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/note="Prolyl 4-hydroxylase alpha subunit homologues;
Region: P4Hc; smart00702"
/db_xref="CDD:197834"
misc_feature 1848..2144
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/note="2OG-Fe(II) oxygenase superfamily; Region:
2OG-FeII_Oxy_3; pfam13640"
/db_xref="CDD:205817"
misc_feature 2310..2321
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q32P28.2);
Region: Prevents secretion from ER (Potential)"
exon 579..731
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 732..921
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 922..1053
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 1054..1193
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 1194..1283
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 1284..1336
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 1337..1458
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 1459..1586
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
STS 1531..1682
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/standard_name="LEPRE1"
/db_xref="UniSTS:503225"
exon 1587..1682
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 1683..1833
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 1834..1951
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 1952..2027
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 2028..2168
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
exon 2169..2686
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/inference="alignment:Splign:1.39.8"
STS 2306..2592
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/standard_name="SHGC-74679"
/db_xref="UniSTS:74729"
STS 2334..2467
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/standard_name="D1S3562"
/db_xref="UniSTS:56354"
variation 2480
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/replace="a"
/replace="c"
/db_xref="dbSNP:3180453"
variation 2581
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6882"
polyA_signal 2623..2628
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
polyA_site 2647
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
polyA_site 2686
/gene="LEPRE1"
/gene_synonym="GROS1; OI8; P3H1"
ORIGIN
atgcgccgcccggcttggaaggtggggcttcgcccgggggcgggccttcgccgggggtaggactccggccttggtggcgggtggctggcggttccgttaggtctgagggagcgatggcggtacgcgcgttgaagctgctgaccacactgctggctgtcgtggccgctgcctcccaagccgaggtcgagtccgaggcaggatggggcatggtgacgcctgatctgctcttcgccgaggggaccgcagcctacgcgcgcggggactggcccggggtggtcctgagcatggaacgggcgctgcgctcccgggcagccctccgcgcccttcgcctgcgctgccgcacccagtgtgccgccgacttcccgtgggagctggaccccgactggtcccccagcccggcccaggcctcgggcgccgccgccctgcgcgacctgagcttcttcgggggccttctgcgtcgcgctgcctgcctgcgccgctgcctcgggccgccggccgcccactcgctcagcgaagagatggagctggagttccgcaagcggagcccctacaactacctgcaggtcgcctacttcaagatcaacaagttggagaaagctgttgctgcagcacacaccttcttcgtgggcaatcctgagcacatggaaatgcagcagaacctagactattaccaaaccatgtctggagtgaaggaggccgacttcaaggatcttgagactcaaccccatatgcaagaatttcgactgggagtgcgactctactcagaggaacagccacaggaagctgtgccccacctagaggcggcgctgcaagaatactttgtggcctatgaggagtgccgtgccctctgcgaagggccctatgactacgatggctacaactaccttgagtacaacgctgacctcttccaggccatcacagatcattacatccaggtcctcaactgtaagcagaactgtgtcacggagcttgcttcccacccaagtcgagagaagccctttgaagacttcctcccatcgcattataattatctgcagtttgcctactataacattgggaattatacacaggctgttgaatgtgccaagacctatcttctcttcttccccaatgacgaggtgatgaaccaaaatttggcctattatgcagctatgcttggagaagaacacaccagatccatcggcccccgtgagagtgccaaggagtaccgacagcgaagcctactggaaaaagaactgcttttcttcgcttatgatgtttttggaattccctttgtggatccggattcatggactccagaagaagtgattcccaagagattgcaagagaaacagaagtcagaacgggaaacagccgtacgcatctcccaggagattgggaaccttatgaaggaaatcgagacccttgtggaagagaagaccaaggagtcactggatgtgagcagactgacccgggaaggtggccccctgctgtatgaaggcatcagtctcaccatgaactccaaactcctgaatggttcccagcgggtggtgatggacggcgtaatctctgaccacgagtgtcaggagctgcagagactgaccaatgtggcagcaacctcaggagatggctaccggggtcagacctccccacatactcccaatgaaaagttctatggtgtcactgtcttcaaagccctcaagctggggcaagaaggcaaagttcctctgcagagtgcccacctgtactacaacgtgacggagaaggtgcggcgcatcatggagtcctacttccgcctggatacgcccctctacttttcctactctcatctggtgtgccgcactgccatcgaagaggtccaggcagagaggaaggatgatagtcatccagtccacgtggacaactgcatcctgaatgccgagaccctcgtgtgtgtcaaagagcccccagcctacaccttccgcgactacagcgccatcctttacctaaatggggacttcgatggcggaaacttttatttcactgaactggatgccaagaccgtgacggcagaggtgcagcctcagtgtggaagagccgtgggattctcttcaggcactgaaaacccacatggagtgaaggctgtcaccagggggcagcgctgtgccatcgccctgtggttcaccctggaccctcgacacagcgagcgggacagggtgcaggcagatgacctggtgaagatgctcttcagcccagaagagatggacctctcccaggagcagcccctggatgcccagcagggcccccccgaacctgcacaagagtctctctcaggcagtgaatcgaagcccaaggatgagctatgacagcgtccaggtcagacggatgggtgactagacccatggagaggaactcttctgcactctgagctggccagcccctcggggctgcagagcagtgagcctacatctgccactcagccgaggggaccctgctcacagccttctacatggtgctactgctcttggagtggacatgaccagacaccgcaccccctggatctggctgagggctcaggacacaggcccagccacccccaggggcctccacaggccgctgcatgacagcgatacagtacttaagtgtctgtgtagacaaccaaagaataaatgattcatggttttttttacttggtttgttcagacaatggaaatttgcccattctgtcaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:64175 -> Molecular function: GO:0003674 [molecular_function] evidence: ND
GeneID:64175 -> Molecular function: GO:0005506 [iron ion binding] evidence: IEA
GeneID:64175 -> Molecular function: GO:0016702 [oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen] evidence: IEA
GeneID:64175 -> Molecular function: GO:0019797 [procollagen-proline 3-dioxygenase activity] evidence: IEA
GeneID:64175 -> Molecular function: GO:0031418 [L-ascorbic acid binding] evidence: IEA
GeneID:64175 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: NAS
GeneID:64175 -> Biological process: GO:0016049 [cell growth] evidence: IEA
GeneID:64175 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
GeneID:64175 -> Biological process: GO:0030199 [collagen fibril organization] evidence: IEA
GeneID:64175 -> Biological process: GO:0030278 [regulation of ossification] evidence: IEA
GeneID:64175 -> Cellular component: GO:0005575 [cellular_component] evidence: ND
GeneID:64175 -> Cellular component: GO:0005578 [proteinaceous extracellular matrix] evidence: IEA
GeneID:64175 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
GeneID:64175 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_071751 -> EC 1.14.11.7
by
@meso_cacase at
DBCLS
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