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2024-03-29 21:56:16, 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:

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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