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2025-05-09 19:10:36, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_007176 1576 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens chromosome 14 open reading frame 1 (C14orf1), mRNA.
ACCESSION NM_007176
VERSION NM_007176.3 GI:301601618
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 1576)
AUTHORS Passantino,R., Cascio,C., Deidda,I., Galizzi,G., Russo,D.,
Spedale,G. and Guarneri,P.
TITLE Identifying protein partners of CLN8, an ER-resident protein
involved in neuronal ceroid lipofuscinosis
JOURNAL Biochim. Biophys. Acta 1833 (3), 529-540 (2013)
PUBMED 23142642
REFERENCE 2 (bases 1 to 1576)
AUTHORS Lee,C.N., Heidbrink,J.L., McKinnon,K., Bushman,V., Olsen,H.,
FitzHugh,W., Li,A., Van Orden,K., He,T., Ruben,S.M. and Moore,P.A.
TITLE RNA interference characterization of proteins discovered by
proteomic analysis of pancreatic cancer reveals function in cell
growth and survival
JOURNAL Pancreas 41 (1), 84-94 (2012)
PUBMED 21934552
REMARK GeneRIF: Data indicate that integrin beta6, CD46, tissue factor,
and chromosome 14 open reading frame 1 (C14ORF1), were identified
as overexpressed on pancreatic cancer cell lines.
REFERENCE 3 (bases 1 to 1576)
AUTHORS Stelzl,U., Worm,U., Lalowski,M., Haenig,C., Brembeck,F.H.,
Goehler,H., Stroedicke,M., Zenkner,M., Schoenherr,A., Koeppen,S.,
Timm,J., Mintzlaff,S., Abraham,C., Bock,N., Kietzmann,S.,
Goedde,A., Toksoz,E., Droege,A., Krobitsch,S., Korn,B.,
Birchmeier,W., Lehrach,H. and Wanker,E.E.
TITLE A human protein-protein interaction network: a resource for
annotating the proteome
JOURNAL Cell 122 (6), 957-968 (2005)
PUBMED 16169070
REFERENCE 4 (bases 1 to 1576)
AUTHORS Schirmer,E.C., Florens,L., Guan,T., Yates,J.R. III and Gerace,L.
TITLE Nuclear membrane proteins with potential disease links found by
subtractive proteomics
JOURNAL Science 301 (5638), 1380-1382 (2003)
PUBMED 12958361
REFERENCE 5 (bases 1 to 1576)
AUTHORS Heilig,R., Eckenberg,R., Petit,J.L., Fonknechten,N., Da Silva,C.,
Cattolico,L., Levy,M., Barbe,V., de Berardinis,V., Ureta-Vidal,A.,
Pelletier,E., Vico,V., Anthouard,V., Rowen,L., Madan,A., Qin,S.,
Sun,H., Du,H., Pepin,K., Artiguenave,F., Robert,C., Cruaud,C.,
Bruls,T., Jaillon,O., Friedlander,L., Samson,G., Brottier,P.,
Cure,S., Segurens,B., Aniere,F., Samain,S., Crespeau,H., Abbasi,N.,
Aiach,N., Boscus,D., Dickhoff,R., Dors,M., Dubois,I., Friedman,C.,
Gouyvenoux,M., James,R., Madan,A., Mairey-Estrada,B., Mangenot,S.,
Martins,N., Menard,M., Oztas,S., Ratcliffe,A., Shaffer,T.,
Trask,B., Vacherie,B., Bellemere,C., Belser,C., Besnard-Gonnet,M.,
Bartol-Mavel,D., Boutard,M., Briez-Silla,S., Combette,S.,
Dufosse-Laurent,V., Ferron,C., Lechaplais,C., Louesse,C.,
Muselet,D., Magdelenat,G., Pateau,E., Petit,E.,
Sirvain-Trukniewicz,P., Trybou,A., Vega-Czarny,N., Bataille,E.,
Bluet,E., Bordelais,I., Dubois,M., Dumont,C., Guerin,T.,
Haffray,S., Hammadi,R., Muanga,J., Pellouin,V., Robert,D.,
Wunderle,E., Gauguet,G., Roy,A., Sainte-Marthe,L., Verdier,J.,
Verdier-Discala,C., Hillier,L., Fulton,L., McPherson,J.,
Matsuda,F., Wilson,R., Scarpelli,C., Gyapay,G., Wincker,P.,
Saurin,W., Quetier,F., Waterston,R., Hood,L. and Weissenbach,J.
TITLE The DNA sequence and analysis of human chromosome 14
JOURNAL Nature 421 (6923), 601-607 (2003)
PUBMED 12508121
REFERENCE 6 (bases 1 to 1576)
AUTHORS Gachotte,D., Eckstein,J., Barbuch,R., Hughes,T., Roberts,C. and
Bard,M.
TITLE A novel gene conserved from yeast to humans is involved in sterol
biosynthesis
JOURNAL J. Lipid Res. 42 (1), 150-154 (2001)
PUBMED 11160377
REFERENCE 7 (bases 1 to 1576)
AUTHORS Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
Wiemann,S.
TITLE Systematic subcellular localization of novel proteins identified by
large-scale cDNA sequencing
JOURNAL EMBO Rep. 1 (3), 287-292 (2000)
PUBMED 11256614
REFERENCE 8 (bases 1 to 1576)
AUTHORS Ottolenghi,C., Daizadeh,I., Ju,A., Kossida,S., Renault,G.,
Jacquet,M., Fellous,A., Gilbert,W. and Veitia,R.
TITLE The genomic structure of c14orf1 is conserved across eukarya
JOURNAL Mamm. Genome 11 (9), 786-788 (2000)
PUBMED 10967139
REFERENCE 9 (bases 1 to 1576)
AUTHORS Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
TITLE Gene expression profiling in the human
hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 97 (17), 9543-9548 (2000)
PUBMED 10931946
REFERENCE 10 (bases 1 to 1576)
AUTHORS Veitia,R.A., Ottolenghi,C., Bissery,M.C. and Fellous,A.
TITLE A novel human gene, encoding a potential membrane protein conserved
from yeast to man, is strongly expressed in testis and cancer cell
lines
JOURNAL Cytogenet. Cell Genet. 85 (3-4), 217-220 (1999)
PUBMED 10449901
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DB030511.1, BX248022.1, AF136971.1 and AA709128.1.
On Jul 29, 2010 this sequence version replaced gi:222144268.
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 :: BC002444.2, AF136971.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-6 DB030511.1 1-6
7-869 BX248022.1 1-863
870-1537 AF136971.1 530-1197
1538-1576 AA709128.1 1-39 c
FEATURES Location/Qualifiers
source 1..1576
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q24.3"
gene 1..1576
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/note="chromosome 14 open reading frame 1"
/db_xref="GeneID:11161"
/db_xref="HGNC:1187"
/db_xref="HPRD:05201"
/db_xref="MIM:604576"
exon 1..421
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/inference="alignment:Splign:1.39.8"
variation complement(79..80)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace=""
/replace="t"
/db_xref="dbSNP:113336837"
variation complement(80..81)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace=""
/replace="c"
/db_xref="dbSNP:200568461"
variation complement(118)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace=""
/replace="a"
/db_xref="dbSNP:201944310"
variation complement(203)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="t"
/db_xref="dbSNP:142132459"
variation complement(253..254)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace=""
/replace="c"
/db_xref="dbSNP:376171096"
misc_feature 273..275
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/note="upstream in-frame stop codon"
variation complement(371)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="t"
/db_xref="dbSNP:372565121"
variation complement(412..413)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace=""
/replace="c"
/db_xref="dbSNP:35522169"
exon 422..585
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/inference="alignment:Splign:1.39.8"
CDS 453..875
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/codon_start=1
/product="probable ergosterol biosynthetic protein 28"
/protein_id="NP_009107.1"
/db_xref="GI:6005719"
/db_xref="CCDS:CCDS9845.1"
/db_xref="GeneID:11161"
/db_xref="HGNC:1187"
/db_xref="HPRD:05201"
/db_xref="MIM:604576"
/translation="
MSRFLNVLRSWLVMVSIIAMGNTLQSFRDHTFLYEKLYTGKPNLVNGLQARTFGIWTLLSSVIRCLCAIDIHNKTLYHITLWTFLLALGHFLSELFVYGTAAPTIGVLAPLMVASFSILGMLVGLRYLEVEPVSRQKKRN
"
misc_feature 462..524
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKR5.1);
transmembrane region"
misc_feature 465..800
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/note="Erg28 like protein; Region: Erg28; pfam03694"
/db_xref="CDD:190715"
misc_feature 606..668
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKR5.1);
transmembrane region"
misc_feature 687..749
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKR5.1);
transmembrane region"
misc_feature 765..827
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UKR5.1);
transmembrane region"
variation complement(480)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="a"
/replace="c"
/db_xref="dbSNP:199655399"
variation complement(496)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="g"
/replace="t"
/db_xref="dbSNP:11620705"
variation complement(521)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="a"
/replace="g"
/db_xref="dbSNP:201490138"
variation complement(522)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="t"
/db_xref="dbSNP:114175766"
variation complement(551)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="g"
/db_xref="dbSNP:374948600"
exon 586..676
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/inference="alignment:Splign:1.39.8"
variation complement(623)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="a"
/replace="g"
/db_xref="dbSNP:115386117"
variation complement(629)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="t"
/db_xref="dbSNP:374591682"
variation complement(676)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="t"
/db_xref="dbSNP:370578358"
exon 677..795
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/inference="alignment:Splign:1.39.8"
variation complement(701)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="t"
/db_xref="dbSNP:143288971"
variation complement(770)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="t"
/db_xref="dbSNP:377360519"
exon 796..1540
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/inference="alignment:Splign:1.39.8"
variation complement(837)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="a"
/replace="g"
/db_xref="dbSNP:114809316"
variation complement(849)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="a"
/replace="g"
/db_xref="dbSNP:183825619"
variation complement(851)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="a"
/replace="t"
/db_xref="dbSNP:369318513"
variation complement(858)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="a"
/replace="c"
/db_xref="dbSNP:115877512"
variation complement(905)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="t"
/db_xref="dbSNP:376262367"
variation complement(915)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="g"
/db_xref="dbSNP:372857013"
variation complement(1180)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace=""
/replace="t"
/db_xref="dbSNP:35305970"
variation complement(1238)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="a"
/replace="g"
/db_xref="dbSNP:191575897"
STS 1247..1531
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/standard_name="A005P29"
/db_xref="UniSTS:25738"
STS 1247..1531
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/standard_name="G32256"
/db_xref="UniSTS:116855"
STS 1275..1415
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/standard_name="SHGC-64295"
/db_xref="UniSTS:57554"
variation complement(1317)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="a"
/replace="g"
/db_xref="dbSNP:369759789"
STS 1326..1491
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/standard_name="RH98534"
/db_xref="UniSTS:90414"
variation complement(1476)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="t"
/db_xref="dbSNP:187593390"
variation complement(1517)
/gene="C14orf1"
/gene_synonym="ERG28; NET51"
/replace="c"
/replace="t"
/db_xref="dbSNP:181835877"
ORIGIN
gaatgtcgtcaccgccgcgcagcgcgggcgcagagccctgccctcagctgaagggagtcttcttttttttttttttttccgctgtttttttctccgcccctaagaggttgactccaaacccggagttccgctaggtccaacaggagggcttacggcgtgagcggcgtacctggggagaggcttaggcagcggcaaccgctgattggcagtaaaggggttcactccccatctcctgctcgggcgaaaccgggacagccaatcagagagagtactgacggaaacggcccaatcctggagcagggctgagggagggggcggggacaaatggctcaggtggactccgggctggagctgtcctgggggagcttgtttgcggcagcggctgctgctgccactgctgtgctgggggcccggtcgccaggcaaaaagccctcccacgtttgaggggagtcatgagccgtttcctgaatgtgttaagaagttggctggttatggtgtccatcatagccatggggaacacgctgcagagcttccgagaccacacttttctctatgaaaagctctacactggcaagccaaaccttgtgaatggcctccaagctcggacctttgggatctggacgctgctctcatcagtgattcgctgcctctgtgccattgacattcacaacaagacgctctatcacatcacactctggaccttcctccttgccctggggcatttcctctctgagttgtttgtctatggaactgcagctcccacgattggcgtcctggcacccctgatggtggcaagtttctccatcctgggtatgctggtcgggctccggtatctagaagtagaaccagtatccagacagaagaagagaaactgaggccagcattatcacctccaggactttctcgttttccaccttggccatcttcttccttcgtcgtctctcctctttaatttcttttctattccatcatctgcccttttattcacttttagcctctttttttaatttttaaaatttaaagatatgcatactgaaaagtatataacatgtacgtacaatttaaagaataattttaaagtgaatactacgtaactccatccaagtcaagaaattgccagcttctcggaagcccactgtgtctccttcccctacctgcaacctcttccaggctcccttttccagccttcccctttttcccttttattttcatgccttgatttgacttgtgtggtgggaacatgtgaactatgaaacttaaacctgctgcccacccagagcagctgtgaccaagggctgcctcaaggggttgtccacgcaggttgggctcctctctgctgctggacccaagactctgaaccttccaagggacaggcagttcttctaagaagggctcccctgtgtgtgagcaagaccacagctctccttctatctacagatgcatgagggttggaagagtctgggctgtttttagaccttctggtcagctgtatttgtgtaacaacttttgtaataaatagaaaaaccctctgctctgatcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:11161 -> Molecular function: GO:0003674 [molecular_function] evidence: ND
GeneID:11161 -> Biological process: GO:0008150 [biological_process] evidence: ND
GeneID:11161 -> Biological process: GO:0016126 [sterol biosynthetic process] evidence: IEA
GeneID:11161 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: IEA
GeneID:11161 -> Cellular component: GO:0016021 [integral to membrane] evidence: NAS
GeneID:11161 -> Cellular component: GO:0030133 [transport vesicle] evidence: IDA
by
@meso_cacase at
DBCLS
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