Home |
Help |
Advanced search
2024-04-18 16:49:14, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_018192 3715 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.
ACCESSION NM_018192
VERSION NM_018192.3 GI:197313660
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 3715)
AUTHORS Mordechai,S., Gradstein,L., Pasanen,A., Ofir,R., El Amour,K.,
Levy,J., Belfair,N., Lifshitz,T., Joshua,S., Narkis,G.,
Elbedour,K., Myllyharju,J. and Birk,O.S.
TITLE High myopia caused by a mutation in LEPREL1, encoding prolyl
3-hydroxylase 2
JOURNAL Am. J. Hum. Genet. 89 (3), 438-445 (2011)
PUBMED 21885030
REMARK GeneRIF: High myopia is caused by a mutation in LEPREL1, encoding
prolyl 3-hydroxylase 2.
REFERENCE 2 (bases 1 to 3715)
AUTHORS Fernandes,R.J., Farnand,A.W., Traeger,G.R., Weis,M.A. and Eyre,D.R.
TITLE A role for prolyl 3-hydroxylase 2 in post-translational
modification of fibril-forming collagens
JOURNAL J. Biol. Chem. 286 (35), 30662-30669 (2011)
PUBMED 21757687
REMARK GeneRIF: P3H2 has preferred substrate sequences among the classes
of 3Hyp sites in clade A collagen chains
REFERENCE 3 (bases 1 to 3715)
AUTHORS Shah,R., Smith,P., Purdie,C., Quinlan,P., Baker,L., Aman,P.,
Thompson,A.M. and Crook,T.
TITLE The prolyl 3-hydroxylases P3H2 and P3H3 are novel targets for
epigenetic silencing in breast cancer
JOURNAL Br. J. Cancer 100 (10), 1687-1696 (2009)
PUBMED 19436308
REMARK GeneRIF: The restriction of silencing in P3H2 to breast carcinomas,
and its association with oestrogen-receptor-positive cases,
suggests that P3H2 may be a breast-cancer-specific tumour
suppressor.
REFERENCE 4 (bases 1 to 3715)
AUTHORS Tiainen,P., Pasanen,A., Sormunen,R. and Myllyharju,J.
TITLE Characterization of recombinant human prolyl 3-hydroxylase
isoenzyme 2, an enzyme modifying the basement membrane collagen IV
JOURNAL J. Biol. Chem. 283 (28), 19432-19439 (2008)
PUBMED 18487197
REMARK GeneRIF: P3H2 is responsible for the hydroxylation of collagen IV,
which has the highest 3-hydroxyproline content of all collagens. It
is thus possible that P3H2 mutations may lead to a disease with
changes in basement membranes.
REFERENCE 5 (bases 1 to 3715)
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 6 (bases 1 to 3715)
AUTHORS Jarnum,S., Kjellman,C., Darabi,A., Nilsson,I., Edvardsen,K. and
Aman,P.
TITLE LEPREL1, a novel ER and Golgi resident member of the Leprecan
family
JOURNAL Biochem. Biophys. Res. Commun. 317 (2), 342-351 (2004)
PUBMED 15063763
REFERENCE 7 (bases 1 to 3715)
AUTHORS Thelin-Jarnum,S., Lassen,C., Panagopoulos,I., Mandahl,N. and
Aman,P.
TITLE Identification of genes differentially expressed in TLS-CHOP
carrying myxoid liposarcomas
JOURNAL Int. J. Cancer 83 (1), 30-33 (1999)
PUBMED 10449603
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA879789.1, AJ430351.2,
AK125134.1, BC005029.1, BU621129.1 and BU737886.1.
On Aug 28, 2008 this sequence version replaced gi:27764881.
Summary: This gene encodes a member of the prolyl 3-hydroxylase
subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes
play a critical role in collagen chain assembly, stability and
cross-linking by catalyzing post-translational 3-hydroxylation of
proline residues. Mutations in this gene are associated with
nonsyndromic severe myopia with cataract and vitreoretinal
degeneration, and downregulation of this gene may play a role in
breast cancer. Alternatively spliced transcript variants encoding
multiple isoforms have been observed for this gene. [provided by
RefSeq, Dec 2011].
Transcript Variant: This variant (1) represents the longer
transcript and encodes the longer isoform (a).
##Evidence-Data-START##
Transcript exon combination :: AK125134.1, AJ430351.2 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-190 DA879789.1 1-190
191-895 AJ430351.2 1-705
896-2726 AK125134.1 701-2531
2727-2979 BC005029.1 1922-2174
2980-3596 BU621129.1 17-633 c
3597-3715 BU737886.1 1-119 c
FEATURES Location/Qualifiers
source 1..3715
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q28"
gene 1..3715
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/note="leprecan-like 1"
/db_xref="GeneID:55214"
/db_xref="HGNC:19317"
/db_xref="HPRD:17270"
/db_xref="MIM:610341"
exon 1..868
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
misc_feature 359..361
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/note="upstream in-frame stop codon"
CDS 389..2515
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/EC_number="1.14.11.7"
/note="isoform a precursor is encoded by transcript
variant 1; prolyl 3-hydroxylase 3; prolyl 3-hydroxylase 2;
myxoid liposarcoma-associated protein 4"
/codon_start=1
/product="prolyl 3-hydroxylase 2 isoform a precursor"
/protein_id="NP_060662.2"
/db_xref="GI:27764882"
/db_xref="CCDS:CCDS3294.1"
/db_xref="GeneID:55214"
/db_xref="HGNC:19317"
/db_xref="HPRD:17270"
/db_xref="MIM:610341"
/translation="
MRERIWAPPLLLLLPLLLPPPLWGGPPDSPRRELELEPGPLQPFDLLYASGAAAYYSGDYERAVRDLEAALRSHRRLREIRTRCARHCAARHPLPPPPPGEGPGAELPLFRSLLGRARCYRSCETQRLGGPASRHRVSEDVRSDFQRRVPYNYLQRAYIKLNQLEKAVEAAHTFFVANPEHMEMQQNIENYRATAGVEALQLVDREAKPHMESYNAGVKHYEADDFEMAIRHFEQALREYFVEDTECRTLCEGPQRFEEYEYLGYKAGLYEAIADHYMQVLVCQHECVRELATRPGRLSPIENFLPLHYDYLQFAYYRVGEYVKALECAKAYLLCHPDDEDVLDNVDYYESLLDDSIDPASIEAREDLTMFVKRHKLESELIKSAAEGLGFSYTEPNYWIRYGGRQDENRVPSGVNVEGAEVHGFSMGKKLSPKIDRDLREGGPLLYENITFVYNSEQLNGTQRVLLDNVLSEEQCRELHSVASGIMLVGDGYRGKTSPHTPNEKFEGATVLKALKSGYEGRVPLKSARLFYDISEKARRIVESYFMLNSTLYFSYTHMVCRTALSGQQDRRNDLSHPIHADNCLLDPEANECWKEPPAYTFRDYSALLYMNDDFEGGEFIFTEMDAKTVTASIKPKCGRMISFSSGGENPHGVKAVTKGKRCAVALWFTLDPLYRELERIQADEVIAILDQEQQGKHELNINPKDEL
"
sig_peptide 389..460
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 461..2512
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/product="Prolyl 3-hydroxylase 2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IVL5.1)"
misc_feature 518..619
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IVL5.1);
Region: TPR 1"
misc_feature 830..931
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IVL5.1);
Region: TPR 2"
misc_feature 1016..1117
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IVL5.1);
Region: TPR 3"
misc_feature 1304..1405
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IVL5.1);
Region: TPR 4"
misc_feature 1802..2398
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/note="Prolyl 4-hydroxylase alpha subunit homologues;
Region: P4Hc; smart00702"
/db_xref="CDD:197834"
misc_feature 2117..2398
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/note="2OG-Fe(II) oxygenase superfamily; Region:
2OG-FeII_Oxy_3; pfam13640"
/db_xref="CDD:205817"
misc_feature 2501..2512
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IVL5.1);
Region: Prevents secretion from ER (Potential)"
exon 869..1021
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
variation 1000
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34128856"
exon 1022..1211
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
variation 1084
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1719600"
exon 1212..1343
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
exon 1344..1486
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
variation 1360
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/replace="a"
/replace="g"
/db_xref="dbSNP:34558237"
exon 1487..1576
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
variation 1557
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35904452"
exon 1577..1617
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
variation 1610
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35737596"
exon 1618..1712
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
exon 1713..1840
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
variation 1765
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35257648"
variation 1840
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/replace="a"
/replace="t"
/db_xref="dbSNP:34111865"
exon 1841..1936
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
variation 1896
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35072845"
exon 1937..2087
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
exon 2088..2205
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
variation 2192
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34620268"
variation 2195
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/replace="a"
/replace="c"
/db_xref="dbSNP:35067805"
exon 2206..2281
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
exon 2282..2422
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
variation 2395
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1061534"
exon 2423..3699
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/inference="alignment:Splign:1.39.8"
STS 3041..3230
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/standard_name="RH93767"
/db_xref="UniSTS:87517"
STS 3206..3347
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
/standard_name="STS-N21495"
/db_xref="UniSTS:21296"
polyA_signal 3574..3579
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
polyA_site 3596
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
polyA_signal 3678..3683
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
polyA_site 3699
/gene="LEPREL1"
/gene_synonym="MCVD; MLAT4; P3H2"
ORIGIN
atccacttgtacaaccagaagggagctcacgtgtaaagcgcctcgtccccggccggcctcaagcggcgctagctctctggctggcgctggagtgtgccgcccctggcagccccgccgctgcagcggggagcctgggagagcggctctcggagtctcaggcagcaggaggagcgtgtgagctgtgggcgtccctttaagagcggctggccaggcacggcctccgcctctcagtacgcggagcgccggcggtcacctggggctcgcggagcggccagatcgcggcggagtcggcgcgcttccccgagggaaggtgggagaggggacccggacgcgaggtgccccgaagccctctcgagcgtaaccgtcccgcgcctctctgaggcggaggatgcgggagcgcatctgggcgccgccgctgctgctgctgctgccgctgctactgccgccgccactgtggggcggccccccggacagcccacgccgggagctggagctggagcccgggcctctgcagcccttcgacctgctctacgccagcggcgcggccgcctactacagcggagactacgagcgagcggtgcgcgacttggaagcggcgctgcgcagccaccggcgcctgcgggaaatccgcacgcgctgtgcccgccactgcgcggcgcgccacccgctcccgcccccgccccccggcgagggccccggcgctgagctgccccttttccgctccttgttggggcgggcgcgctgttatcgcagctgtgagacccagcgcctcgggggccccgcatcccgccaccgcgtcagcgaggatgtgcgcagcgacttccagcgcagagtgccctacaactacctgcagcgggcctacatcaagcttaaccagctcgaaaaagcagtggaagcagctcacacatttttcgtggctaaccctgagcacatggaaatgcagcagaacattgagaattacagggcgacagctggtgttgaagcattgcagttggtagacagagaagccaagccacacatggagagttacaatgcaggagttaaacattatgaggctgatgactttgagatggctatcaggcacttcgaacaagccttaagagaatatttcgttgaagatacagaatgccggaccctatgtgaggggcctcagagatttgaagaatatgagtatttagggtataaggctggtctgtatgaagctattgcagatcactacatgcaggtgcttgtttgtcagcatgaatgtgtgagggaacttgccacccgccctggccgcctctctcccatcgagaattttcttcctctgcactatgattacctacagtttgcctactatcgagttggtgagtatgtgaaagccctggagtgtgccaaagcctatcttctatgccatccagatgatgaggatgtcctagacaatgtggattactatgagagtctgctggatgatagcattgacccggcatccattgaggccagagaggatttaacaatgtttgtgaaacgtcataagctggagtctgagctgataaaatcagctgcagaaggtctggggttttcatacactgaaccgaattattggatcagatatggaggacgacaggatgagaatcgggtcccttcaggagtgaacgtagagggagcagaagttcatggattctcaatgggaaaaaagctatcacccaagatagatcgagacctaagagaaggtggtcctctactctatgagaacatcacattcgtctacaactcggagcagctgaacgggactcagcgggttctcctggataacgtcctgtcggaagaacagtgccgggagctccacagcgtggccagtggaatcatgcttgttggtgatggatacagaggaaaaacttcaccccatacacccaatgaaaagtttgaaggtgcaactgtcctgaaagcactcaaatctggttatgaaggtcgagtcccactgaagagcgctcgtctgttttatgacatcagcgaaaaggctcgaaggattgtagaatcttattttatgctgaactcaactctgtatttttcctatacacacatggtctgccgaacagccctgtctggtcagcaggatagaagaaatgacctcagtcatcccatccatgctgacaactgtttgttggatccagaggccaacgaatgctggaaggagcctcctgcttacacatttcgagactatagtgctctcctatatatgaatgatgactttgaaggaggagaattcatattcacagagatggatgctaagactgtgactgcctctataaaaccaaaatgtgggcgcatgatcagcttctcatctggaggagagaaccctcatggggtgaaggcagtcaccaagggaaagaggtgtgctgtggctctgtggttcaccttggacccactttatagagaattggagcgaatacaggctgatgaagtgattgcaattctggatcaagaacagcaagggaagcatgaactgaatatcaaccctaaagatgagctataaaaatgagaaagaatgttctatcaaatatttatttaaattgttaatcttatgagaacctttttatttttgtacagagccatggtataaattaacaggttaatgtcagtcatcagatcttccttctcttcctaaggatgcttgtgttgcctcaatctatcaatctatctttcttgttttgggttgttttctctctctctctctctctctctcttcttagagacatggtctaaccatgttgtctaggatatagggcagtggctattcacagatgtgatgatagcacactggagcctcaaactcttaggctcaggcgatccttcaagcctcccggggagctgggaccacaggcacgtgccaccacacccagctctctttcttggtttttcatcatttcatgtatctatcaaagcccagttcacctcctcccccaaacacacacacacacacacacacacacacacacacacacaattaagttgctgcaaattcaaaagcttagagagaataagcttcttggtggtgaaactacaactctcacgtgtgctccagttctaaaattaacctgtgcctggtctctgaagccctttcttgctctgtgcctttcagccacatccttaggtgctaacggccatgagctccgactctccaaagtgagctccactttgggtctgaggagcccctggcagagtccacgctgcctcaggtatcatgggcgtaatgatcacccaggctccgggagatctcatggatgattactgtatgagacagaggggacttcagtctttccagggccttggtggaatttttggctctggtgttttcgccagacaataaacttacactggaagctttgattcaccctccacagtactccagaaaggactgtcctataagttgtacactttaaaaggtcatgtagaggttgtagtagaatggcttttcaccctggtgactttggaagaaactcttgaatactgcctgcatccgggcaccatggccaggttgcctaggagtggggtccactgatgaaaagaggtgttttgtacttacataagaaaaataaatttctgattgattttaaccgtcatctgcttatattttgggggcccctcctcattgctgctatccagcacacagatttgtgcttgtgtctgatttgtttaataaagggaggcttattttaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:55214 -> Molecular function: GO:0005506 [iron ion binding] evidence: IEA
GeneID:55214 -> Molecular function: GO:0016702 [oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen] evidence: IEA
GeneID:55214 -> Molecular function: GO:0019797 [procollagen-proline 3-dioxygenase activity] evidence: IDA
GeneID:55214 -> Molecular function: GO:0031418 [L-ascorbic acid binding] evidence: IEA
GeneID:55214 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IDA
GeneID:55214 -> Biological process: GO:0019511 [peptidyl-proline hydroxylation] evidence: IDA
GeneID:55214 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
GeneID:55214 -> Biological process: GO:0032963 [collagen metabolic process] evidence: IDA
GeneID:55214 -> Cellular component: GO:0005604 [basement membrane] evidence: ISS
GeneID:55214 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IDA
GeneID:55214 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: TAS
GeneID:55214 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_060662 -> EC 1.14.11.7
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.