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2024-04-20 00:54:41, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005857 3165 bp mRNA linear PRI 29-APR-2013
DEFINITION Homo sapiens zinc metallopeptidase STE24 (ZMPSTE24), mRNA.
ACCESSION NM_005857
VERSION NM_005857.4 GI:380692335
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 3165)
AUTHORS Quigley,A., Dong,Y.Y., Pike,A.C., Dong,L., Shrestha,L.,
Berridge,G., Stansfeld,P.J., Sansom,M.S., Edwards,A.M., Bountra,C.,
von Delft,F., Bullock,A.N., Burgess-Brown,N.A. and Carpenter,E.P.
TITLE The structural basis of ZMPSTE24-dependent laminopathies
JOURNAL Science 339 (6127), 1604-1607 (2013)
PUBMED 23539603
REMARK GeneRIF: Laminopathy-associated mutations predicted to reduce
ZMPSTE24 activity map to the zinc metalloprotease peptide-binding
site and to the bottom of the chamber.
REFERENCE 2 (bases 1 to 3165)
AUTHORS Parr-Sturgess,C.A., Tinker,C.L., Hart,C.A., Brown,M.D., Clarke,N.W.
and Parkin,E.T.
TITLE Copper modulates zinc metalloproteinase-dependent ectodomain
shedding of key signaling and adhesion proteins and promotes the
invasion of prostate cancer epithelial cells
JOURNAL Mol. Cancer Res. 10 (10), 1282-1293 (2012)
PUBMED 22936788
REMARK GeneRIF: These data implicate copper as an important factor in
promoting prostate cancer cell invasion and indicate that the
selective posttranslational activation of ZMP-mediated protein
shedding might play a role in this process.
REFERENCE 3 (bases 1 to 3165)
AUTHORS Barrowman,J., Wiley,P.A., Hudon-Miller,S.E., Hrycyna,C.A. and
Michaelis,S.
TITLE Human ZMPSTE24 disease mutations: residual proteolytic activity
correlates with disease severity
JOURNAL Hum. Mol. Genet. 21 (18), 4084-4093 (2012)
PUBMED 22718200
REMARK GeneRIF: Characterization of disease causing mutations in the
ZMPSTE24 gene, residual proteolytic activity correlates with
disease severity.
REFERENCE 4 (bases 1 to 3165)
AUTHORS Navarro,C.L., Cadinanos,J., De Sandre-Giovannoli,A., Bernard,R.,
Courrier,S., Boccaccio,I., Boyer,A., Kleijer,W.J., Wagner,A.,
Giuliano,F., Beemer,F.A., Freije,J.M., Cau,P., Hennekam,R.C.,
Lopez-Otin,C., Badens,C. and Levy,N.
TITLE Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive
dermopathy and accumulation of Lamin A precursors
JOURNAL Hum. Mol. Genet. 14 (11), 1503-1513 (2005)
PUBMED 15843403
REMARK GeneRIF: loss causes autosomal recessive restrictive dermopathy
REFERENCE 5 (bases 1 to 3165)
AUTHORS Gruber,J., Lampe,T., Osborn,M. and Weber,K.
TITLE RNAi of FACE1 protease results in growth inhibition of human cells
expressing lamin A: implications for Hutchinson-Gilford progeria
syndrome
JOURNAL J. Cell. Sci. 118 (PT 4), 689-696 (2005)
PUBMED 15671064
REMARK GeneRIF: RNA interference of FACE1 protease results in a halt of
cell division and accumulation of prelamin A.
REFERENCE 6 (bases 1 to 3165)
AUTHORS Navarro,C.L., De Sandre-Giovannoli,A., Bernard,R., Boccaccio,I.,
Boyer,A., Genevieve,D., Hadj-Rabia,S., Gaudy-Marqueste,C.,
Smitt,H.S., Vabres,P., Faivre,L., Verloes,A., Van Essen,T.,
Flori,E., Hennekam,R., Beemer,F.A., Laurent,N., Le Merrer,M.,
Cau,P. and Levy,N.
TITLE Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization
and identify restrictive dermopathy as a lethal neonatal
laminopathy
JOURNAL Hum. Mol. Genet. 13 (20), 2493-2503 (2004)
PUBMED 15317753
REMARK GeneRIF: A premature termination codon mutation in the gene
ZMPSTE24 leads to loss of expression of Lamin A as well as abnormal
patterns of nuclear sizes and shapes.
REFERENCE 7 (bases 1 to 3165)
AUTHORS Agarwal,A.K., Fryns,J.P., Auchus,R.J. and Garg,A.
TITLE Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral
dysplasia
JOURNAL Hum. Mol. Genet. 12 (16), 1995-2001 (2003)
PUBMED 12913070
REFERENCE 8 (bases 1 to 3165)
AUTHORS Freije,J.M., Blay,P., Pendas,A.M., Cadinanos,J., Crespo,P. and
Lopez-Otin,C.
TITLE Identification and chromosomal location of two human genes encoding
enzymes potentially involved in proteolytic maturation of
farnesylated proteins
JOURNAL Genomics 58 (3), 270-280 (1999)
PUBMED 10373325
REFERENCE 9 (bases 1 to 3165)
AUTHORS Kumagai,H., Kawamura,Y., Yanagisawa,K. and Komano,H.
TITLE Identification of a human cDNA encoding a novel protein
structurally related to the yeast membrane-associated
metalloprotease, Ste24p
JOURNAL Biochim. Biophys. Acta 1426 (3), 468-474 (1999)
PUBMED 10076063
REFERENCE 10 (bases 1 to 3165)
AUTHORS Tam,A., Nouvet,F.J., Fujimura-Kamada,K., Slunt,H., Sisodia,S.S. and
Michaelis,S.
TITLE Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal
proteolysis and COOH-terminal CAAX processing
JOURNAL J. Cell Biol. 142 (3), 635-649 (1998)
PUBMED 9700155
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB096663.1, DA398037.1,
AB016068.1, AK075007.1 and AA436253.1.
On Mar 17, 2012 this sequence version replaced gi:122939168.
Summary: This gene encodes a member of the peptidase M48A family.
The encoded protein is a zinc metalloproteinase involved in the two
step post-translational proteolytic cleavage of carboxy terminal
residues of farnesylated prelamin A to form mature lamin A.
Mutations in this gene have been associated with mandibuloacral
dysplasia and restrictive dermopathy. [provided by RefSeq, Jul
2008].
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 :: AK075007.1, AK074784.1 [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
1-28 DB096663.1 1-28
29-268 DA398037.1 1-240
269-1737 AB016068.1 225-1693
1738-3154 AK075007.1 1617-3033
3155-3165 AA436253.1 2-12 c
FEATURES Location/Qualifiers
source 1..3165
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p34"
gene 1..3165
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/note="zinc metallopeptidase STE24"
/db_xref="GeneID:10269"
/db_xref="HGNC:12877"
/db_xref="HPRD:07349"
/db_xref="MIM:606480"
exon 1..345
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="alignment:Splign:1.39.8"
variation 29
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:187549487"
variation 43..44
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="g"
/db_xref="dbSNP:34792345"
variation 51
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="c"
/db_xref="dbSNP:151221982"
variation 57..58
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="a"
/db_xref="dbSNP:35057314"
variation 62..68
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="gacactg"
/db_xref="dbSNP:201740425"
variation 177
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:200527699"
misc_feature 196..198
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/note="upstream in-frame stop codon"
variation 210
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:140415968"
CDS 223..1650
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/EC_number="3.4.24.84"
/note="prenyl protein-specific endoprotease 1; zinc
metallopeptidase STE24 homolog; zinc metalloproteinase
Ste24 homolog; farnesylated proteins-converting enzyme 1"
/codon_start=1
/product="CAAX prenyl protease 1 homolog"
/protein_id="NP_005848.2"
/db_xref="GI:18379366"
/db_xref="CCDS:CCDS449.1"
/db_xref="GeneID:10269"
/db_xref="HGNC:12877"
/db_xref="HPRD:07349"
/db_xref="MIM:606480"
/translation="
MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLYQLDKSTFSFWSGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTLGFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEVMAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH
"
misc_feature 277..339
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O75844.2);
transmembrane region"
misc_feature 466..528
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O75844.2);
transmembrane region"
misc_feature 592..654
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O75844.2);
transmembrane region"
misc_feature 733..795
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O75844.2);
transmembrane region"
misc_feature 808..870
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O75844.2);
transmembrane region"
misc_feature 862..1626
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/note="Peptidase family M48; Region: Peptidase_M48;
pfam01435"
/db_xref="CDD:201797"
misc_feature 1264..1326
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O75844.2);
transmembrane region"
misc_feature 1369..1437
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O75844.2);
transmembrane region"
variation 223
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:148924656"
variation 237
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="c"
/db_xref="dbSNP:374301030"
variation 239
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:373684692"
variation 268
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:1046247"
variation 272
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="a"
/db_xref="dbSNP:281875360"
variation 276..277
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="t"
/db_xref="dbSNP:281875361"
variation 302
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:376928686"
variation 308
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:114340421"
variation 343
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:121908094"
exon 346..492
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="alignment:Splign:1.39.8"
variation 378
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="t"
/db_xref="dbSNP:144787725"
variation 380
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:199508639"
variation 381
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:370174601"
variation 421
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="t"
/db_xref="dbSNP:367628151"
variation 429..430
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="ct"
/db_xref="dbSNP:281875362"
variation 431..432
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="at"
/db_xref="dbSNP:281875363"
variation 433
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="g"
/db_xref="dbSNP:199582862"
variation 459
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:115173390"
variation 482
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:372440430"
exon 493..579
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="alignment:Splign:1.39.8"
variation 503
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:281875364"
variation 518
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="c"
/db_xref="dbSNP:281875365"
variation 542
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="g"
/replace="t"
/db_xref="dbSNP:372348936"
variation 547
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="g"
/replace="t"
/db_xref="dbSNP:141386841"
variation 579
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="g"
/db_xref="dbSNP:376031534"
exon 580..696
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="alignment:Splign:1.39.8"
variation 599
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:373587516"
variation 623
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="g"
/db_xref="dbSNP:281875366"
variation 631
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:17853725"
variation 646
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:112521665"
variation 675
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:115755400"
exon 697..849
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="alignment:Splign:1.39.8"
variation 702
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:148764034"
variation 750
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:17853726"
variation 757
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:151329783"
variation 763
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:145639744"
variation 800
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:371936269"
variation 813..814
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="t"
/db_xref="dbSNP:281875367"
variation 814..815
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="at"
/db_xref="dbSNP:281875368"
variation 814
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="t"
/db_xref="dbSNP:199984135"
variation 831
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="g"
/db_xref="dbSNP:202090930"
variation 833
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:376605914"
exon 850..991
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="alignment:Splign:1.39.8"
variation 862
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:375434823"
variation 873
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:2076697"
variation 913
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="g"
/replace="t"
/db_xref="dbSNP:281875369"
variation 920
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="t"
/db_xref="dbSNP:372563227"
variation 931
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="g"
/replace="t"
/db_xref="dbSNP:281875370"
variation 937
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="g"
/replace="t"
/db_xref="dbSNP:267607181"
variation 965
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:121908095"
variation 986..987
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="g"
/db_xref="dbSNP:35231002"
exon 992..1176
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="alignment:Splign:1.39.8"
variation 1016
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:281875371"
variation 1048
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:138606746"
variation 1051
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:200695349"
variation 1083
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:370823306"
variation 1087
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:116238028"
variation 1090
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:375335394"
variation 1120
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:143533530"
variation 1125
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="c"
/db_xref="dbSNP:143686273"
variation 1132
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:201393732"
variation 1135
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:140290237"
variation 1155
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:150740479"
exon 1177..1281
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="alignment:Splign:1.39.8"
variation 1178
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:112662955"
variation 1187
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:28581527"
variation 1197
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:149830633"
variation 1212
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:116284141"
variation 1240
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:121908093"
variation 1242
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:281875372"
variation 1257
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:116496835"
variation 1274
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:373835792"
exon 1282..1425
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="alignment:Splign:1.39.8"
variation 1292
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="g"
/replace="t"
/db_xref="dbSNP:375311466"
variation 1307..1308
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="t"
/db_xref="dbSNP:137854889"
variation 1308
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:369946970"
variation 1316
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:372458731"
variation 1326
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:142369790"
variation 1327
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:281875373"
variation 1328
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:41268053"
variation 1387
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:138014589"
exon 1426..3165
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/inference="alignment:Splign:1.39.8"
variation 1471
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:281875374"
variation 1481
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="g"
/db_xref="dbSNP:200751802"
variation 1485..1486
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="t"
/db_xref="dbSNP:281875375"
STS 1487..1701
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/standard_name="RH135308"
/db_xref="UniSTS:218585"
variation 1499
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:371030454"
variation 1534
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:116771294"
variation 1560
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:370202496"
variation 1571
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:281875376"
variation 1573
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="g"
/replace="t"
/db_xref="dbSNP:11577203"
variation 1575
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:373944901"
variation 1578
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="g"
/db_xref="dbSNP:281875377"
variation 1606
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="g"
/db_xref="dbSNP:146105624"
variation 1607
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="g"
/replace="t"
/db_xref="dbSNP:281875378"
STS 1640..1719
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/standard_name="AL009542"
/db_xref="UniSTS:64137"
variation 1652
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="a"
/db_xref="dbSNP:368117507"
variation 1669
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="c"
/db_xref="dbSNP:376106772"
variation 1688
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:374249092"
variation 1709
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="c"
/db_xref="dbSNP:193076795"
variation 1740
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:368280638"
variation 1829
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:375312605"
variation 1929
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="c"
/db_xref="dbSNP:141770768"
variation 1947
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:375968959"
variation 2138
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:16827111"
variation 2171
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:75622994"
variation 2182
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="t"
/db_xref="dbSNP:35459238"
variation 2307
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="g"
/replace="t"
/db_xref="dbSNP:185804991"
variation 2328
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="g"
/db_xref="dbSNP:67294434"
variation 2344
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="g"
/db_xref="dbSNP:189983026"
variation 2373
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:10489431"
variation 2383
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:75849141"
variation 2404
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:369547499"
variation 2440
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:370050365"
variation 2512
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:146116396"
variation 2540
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:10489432"
variation 2581
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="a"
/db_xref="dbSNP:371999787"
variation 2664
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="c"
/replace="t"
/db_xref="dbSNP:368270348"
variation 2749
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="t"
/db_xref="dbSNP:373861478"
variation 2861
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace=""
/replace="t"
/db_xref="dbSNP:374943840"
STS 2878..3022
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/standard_name="A002U36"
/db_xref="UniSTS:37701"
variation 2890
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="a"
/replace="g"
/db_xref="dbSNP:181730348"
STS 2939..3107
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/standard_name="D1S1868E"
/db_xref="UniSTS:77591"
polyA_signal 2972..2977
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
polyA_site 2989
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
STS 3008..3154
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/standard_name="SHGC-34567"
/db_xref="UniSTS:49505"
variation 3058
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
/replace="g"
/replace="t"
/db_xref="dbSNP:184006744"
polyA_signal 3137..3142
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
polyA_site 3161
/gene="ZMPSTE24"
/gene_synonym="FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p"
ORIGIN
gcttttcctgtagaaactaggagggactagggagagtctgcaaggggaagagtgtgtctgtgacactgccagcagcgcgcagagggagggatgggggcgggtatcggcgtaggggccctcggaaagaacggatattgctgtgacaccgcggggacgctctgaagggacgagtgtcggtgtggcaccggtgcacgctgaaggagccggcggaaccgggtggccatggggatgtgggcatcgctggacgctttgtgggagatgccggccgagaagcgtatcttcggggccgtgctgctcttttcctggacagtgtatctttgggagaccttcctagcacagcggcagagaaggatatataaaacaacaactcatgtaccaccggagttaggacagatcatggattctgaaacatttgagaaatctcgactctatcaactggataaaagcactttcagcttctggtcaggactctattcagagactgaaggcactcttattcttctctttggaggaataccttatctctggagactttctggacggttctgtggttatgctggctttggaccagaatatgagatcactcagtccctggtgtttctgctgttggctacacttttcagtgcattgactggtttgccatggagtctttataatacttttgtgatagaagaaaaacatggcttcaatcaacagactttggggttcttcatgaaagatgcaatcaagaaatttgttgtgactcagtgtattttgttgcctgtgtcttcacttctactttacattattaaaattgggggtgactatttttttatttatgcctggctgttcacattagttgtgtctctggttcttgtcacaatctatgctgattatattgcccctttatttgacaaattcacacctctgcctgagggaaagcttaaagaagaaattgaagtaatggcaaagagtattgactttcctttgacgaaggtgtatgttgtggaaggatctaaacgctcttcccacagcaatgcttatttttatggcttcttcaagaacaagcgaatagttttgtttgacactctactagaagagtactctgtactaaacaaagacatccaggaggattctggcatggaaccccgcaatgaggaagaagggaacagtgaagaaataaaagctaaagttaaaaataagaaacaaggatgtaaaaatgaggaggtactcgctgtactaggccatgaactggggcactggaagttgggacatacagtcaaaaatatcattattagccagatgaattctttcctgtgtttttttttatttgctgtattaattggtcgaaaggagctttttgctgcatttggtttttatgatagccaacccactcttattggactattgatcatcttccagtttattttttcaccttacaatgaggttctttctttttgcctaacagtcctaagccgcagatttgagtttcaagctgatgcatttgccaagaaacttgggaaggctaaagacttatattctgctttaatcaaacttaacaaagataacttgggattccctgtttctgactggttgttctcaatgtggcattattctcatcctccactgctagagagacttcaagctttgaaaactatgaagcaacactgagatgtccaggatctgtgactgaagacatttctgattatttctgtcctggcagcatgttccagctcttgatgtttttaaacttttttttagaagaaaaattaagtacagaaaagcccagatttaaatacatttaatatgtcattttaaaaatgattttaataattcatttcttaaaacactgaatgaattttgaagcttaatgtttttaaaggcatagttttatctttgacatctaatttaccatcaagttgtaaaattatttggaaaaatacagaactcgttttatttgtatacttatatggaatctgcatgtgaggtgtttgagggcatatgtttgaaagagggagcatcaccacaggaatcctttctgtgaggtggaaacagtggtcctgaatcattgtgctcacacctaacttgaaatctggtcttactttcatgctgttatgatttcacctggtgaatcagtgttttaaataagaaaggtaatagttggtaaggccaatgttatttaaatgaaagtagttagaaaaatgctctcctattctaccaaatttttaatttctttcttccctttcttgctacacagtgatcaagagtttctcatagtgctttgaagttagaaattatgtataggatattttaaatcattgagttttgtggggtttttttgtttgtttgtttcttttgttttttggaaaatccgtgtctttatctttttttcccacgtggtagatatgatcccattggaggtaaattgtagcttcttctcattcatgcagtaaataatacatcctttcactcagcagagatggccatattaaacacgttttgctatgttaaaagtggcagaacaggaaagacgaattaaaaataacattttttaagcgacataaggatgaaatactgatgaatctctgtgacattacagggaaaaaaatatagttttctatctctttcaagggcagaagagttttcatttttatttttgtaattttatctgtaagtcataaatattacttaatcaggcctgattctacttttgaaaattacagttcttgaaatgcagataatgtttactttgaaaacaaatgtcatgaatgatttccagtttttaaagctatatgtttcactgcttcatatctctgtccactttctgaatgagaacttattttgtgcctagagctctcactcactgataatgcttattaccttctgggcatttattccaaagtgggatcaactgtacgcctttggtatctgaccataaagtcttttgctccgctgacatttgggtgatgtcttcacatggaaatataataaaaataaaaatctagtttaatactgcattatttattttcctaaggctaaagaggagcagtcctatgcttttattcagcatcctttatctgtgacttcatgctctgataactgcctttccttccttctgtgcctttgaatacaaatttcagttctgcaaaagtgaaacattaaacattgccaacgcaaatgtatgta
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10269 -> Molecular function: GO:0004222 [metalloendopeptidase activity] evidence: IEA
GeneID:10269 -> Molecular function: GO:0008235 [metalloexopeptidase activity] evidence: TAS
GeneID:10269 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:10269 -> Biological process: GO:0006508 [proteolysis] evidence: TAS
GeneID:10269 -> Biological process: GO:0006998 [nuclear envelope organization] evidence: IEA
GeneID:10269 -> Biological process: GO:0030327 [prenylated protein catabolic process] evidence: IEA
GeneID:10269 -> Biological process: GO:0071586 [CAAX-box protein processing] evidence: IEA
GeneID:10269 -> Cellular component: GO:0005637 [nuclear inner membrane] evidence: IEA
GeneID:10269 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: IEA
GeneID:10269 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_005848 -> EC 3.4.24.84
by
@meso_cacase at
DBCLS
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