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2024-04-24 05:30:24, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032276 4868 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript
variant 1, mRNA.
ACCESSION NM_032276
VERSION NM_032276.3 GI:263190639
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 4868)
AUTHORS Wan,C., Fu,J., Wang,Y., Miao,S., Song,W. and Wang,L.
TITLE Exosome-related multi-pass transmembrane protein TSAP6 is a target
of rhomboid protease RHBDD1-induced proteolysis
JOURNAL PLoS ONE 7 (5), E37452 (2012)
PUBMED 22624035
REMARK GeneRIF: RHBDD1 is involved in the regulation of a nonclassical
exosomal secretion pathway through the restriction of TSAP6.
REFERENCE 2 (bases 1 to 4868)
AUTHORS Wang,Y., Guan,X., Fok,K.L., Li,S., Zhang,X., Miao,S., Zong,S.,
Koide,S.S., Chan,H.C. and Wang,L.
TITLE A novel member of the Rhomboid family, RHBDD1, regulates
BIK-mediated apoptosis
JOURNAL Cell. Mol. Life Sci. 65 (23), 3822-3829 (2008)
PUBMED 18953687
REMARK GeneRIF: RHBDD1, a serine protease, modulates BIK-mediated
apoptotic activity.
REFERENCE 3 (bases 1 to 4868)
AUTHORS Wilk,J.B., Walter,R.E., Laramie,J.M., Gottlieb,D.J. and
O'Connor,G.T.
TITLE Framingham Heart Study genome-wide association: results for
pulmonary function measures
JOURNAL BMC Med. Genet. 8 (SUPPL 1), S8 (2007)
PUBMED 17903307
REMARK Publication Status: Online-Only
REFERENCE 4 (bases 1 to 4868)
AUTHORS Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
TITLE A germline-specific class of small RNAs binds mammalian Piwi
proteins
JOURNAL Nature 442 (7099), 199-202 (2006)
PUBMED 16751776
REFERENCE 5 (bases 1 to 4868)
AUTHORS Hillier,L.W., Graves,T.A., Fulton,R.S., Fulton,L.A., Pepin,K.H.,
Minx,P., Wagner-McPherson,C., Layman,D., Wylie,K., Sekhon,M.,
Becker,M.C., Fewell,G.A., Delehaunty,K.D., Miner,T.L., Nash,W.E.,
Kremitzki,C., Oddy,L., Du,H., Sun,H., Bradshaw-Cordum,H., Ali,J.,
Carter,J., Cordes,M., Harris,A., Isak,A., van Brunt,A., Nguyen,C.,
Du,F., Courtney,L., Kalicki,J., Ozersky,P., Abbott,S.,
Armstrong,J., Belter,E.A., Caruso,L., Cedroni,M., Cotton,M.,
Davidson,T., Desai,A., Elliott,G., Erb,T., Fronick,C., Gaige,T.,
Haakenson,W., Haglund,K., Holmes,A., Harkins,R., Kim,K.,
Kruchowski,S.S., Strong,C.M., Grewal,N., Goyea,E., Hou,S., Levy,A.,
Martinka,S., Mead,K., McLellan,M.D., Meyer,R., Randall-Maher,J.,
Tomlinson,C., Dauphin-Kohlberg,S., Kozlowicz-Reilly,A., Shah,N.,
Swearengen-Shahid,S., Snider,J., Strong,J.T., Thompson,J.,
Yoakum,M., Leonard,S., Pearman,C., Trani,L., Radionenko,M.,
Waligorski,J.E., Wang,C., Rock,S.M., Tin-Wollam,A.M., Maupin,R.,
Latreille,P., Wendl,M.C., Yang,S.P., Pohl,C., Wallis,J.W.,
Spieth,J., Bieri,T.A., Berkowicz,N., Nelson,J.O., Osborne,J.,
Ding,L., Meyer,R., Sabo,A., Shotland,Y., Sinha,P., Wohldmann,P.E.,
Cook,L.L., Hickenbotham,M.T., Eldred,J., Williams,D., Jones,T.A.,
She,X., Ciccarelli,F.D., Izaurralde,E., Taylor,J., Schmutz,J.,
Myers,R.M., Cox,D.R., Huang,X., McPherson,J.D., Mardis,E.R.,
Clifton,S.W., Warren,W.C., Chinwalla,A.T., Eddy,S.R., Marra,M.A.,
Ovcharenko,I., Furey,T.S., Miller,W., Eichler,E.E., Bork,P.,
Suyama,M., Torrents,D., Waterston,R.H. and Wilson,R.K.
TITLE Generation and annotation of the DNA sequences of human chromosomes
2 and 4
JOURNAL Nature 434 (7034), 724-731 (2005)
PUBMED 15815621
REFERENCE 6 (bases 1 to 4868)
AUTHORS Puente,X.S., Sanchez,L.M., Overall,C.M. and Lopez-Otin,C.
TITLE Human and mouse proteases: a comparative genomic approach
JOURNAL Nat. Rev. Genet. 4 (7), 544-558 (2003)
PUBMED 12838346
REMARK Review article
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AC010735.11, AK074258.1, AC073149.5 and CA434330.1.
On Nov 6, 2009 this sequence version replaced gi:33300638.
Transcript Variant: This variant (1) represents the shorter
transcript. Variants 1 and 2 encode the same protein.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
##Evidence-Data-START##
Transcript exon combination :: AK074258.1, BC111056.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-102 AC010735.11 115536-115637
103-2402 AK074258.1 1-2300
2403-4254 AC073149.5 66355-68206
4255-4868 CA434330.1 1-614 c
FEATURES Location/Qualifiers
source 1..4868
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q36.3"
gene 1..4868
/gene="RHBDD1"
/gene_synonym="RRP4"
/note="rhomboid domain containing 1"
/db_xref="GeneID:84236"
/db_xref="HGNC:23081"
/db_xref="HPRD:13206"
exon 1..133
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 86..88
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2396429"
STS 123..1378
/gene="RHBDD1"
/gene_synonym="RRP4"
/db_xref="UniSTS:487135"
exon 134..656
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 142
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:191381349"
variation 174
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:376038303"
variation 185
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:140092397"
variation 186
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:369158592"
variation 193
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:372778601"
variation 210
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:377205809"
misc_feature 212..214
/gene="RHBDD1"
/gene_synonym="RRP4"
/note="upstream in-frame stop codon"
variation 217
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:370707612"
CDS 224..1171
/gene="RHBDD1"
/gene_synonym="RRP4"
/EC_number="3.4.21.105"
/note="rhomboid domain-containing protein 1; rhomboid-like
protein 4"
/codon_start=1
/product="rhomboid-related protein 4"
/protein_id="NP_115652.2"
/db_xref="GI:33300639"
/db_xref="CCDS:CCDS2464.1"
/db_xref="GeneID:84236"
/db_xref="HGNC:23081"
/db_xref="HPRD:13206"
/translation="
MQRRSRGINTGLILLLSQIFHVGINNIPPVTLATLALNIWFFLNPQKPLYSSCLSVEKCYQQKDWQRLLLSPLHHADDWHLYFNMASMLWKGINLERRLGSRWFAYVITAFSVLTGVVYLLLQFAVAEFMDEPDFKRSCAVGFSGVLFALKVLNNHYCPGGFVNILGFPVPNRFACWVELVAIHLFSPGTSFAGHLAGILVGLMYTQGPLKKIMEACAGGFSSSVGYPGRQYYFNSSGSSGYQDYYPHGRPDHYEEAPRNYDTYTAGLSEEEQLERALQASLWDRGNTRNSPPPYGFHLSPEEMRRQRLHRFDSQ
"
misc_feature 287..349
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
transmembrane region"
misc_feature 404..841
/gene="RHBDD1"
/gene_synonym="RRP4"
/note="Rhomboid family; Region: Rhomboid; pfam01694"
/db_xref="CDD:201925"
misc_feature 542..604
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
transmembrane region"
misc_feature 659..721
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
transmembrane region"
misc_feature 764..826
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
transmembrane region"
misc_feature 1028..1075
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
Region: Ubiquitin-binding domain (UBD) (By similarity)"
misc_feature 1124..1168
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
Region: VCP/p97-interacting motif (VIM) (By similarity)"
variation 229
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:374371418"
variation 230
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200984958"
variation 231
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:143167571"
variation 261
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:140251328"
variation 268
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200858101"
variation 292
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:138151618"
variation 296
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:147490611"
variation 300
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:36070966"
variation 309
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:143797293"
variation 317
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:146860429"
variation 323
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:201451974"
variation 351
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200723244"
variation 388
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:199524639"
variation 421
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:375555198"
variation 518
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200430586"
variation 527
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:35800367"
variation 540
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:139722262"
variation 551
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:35731955"
variation 564
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:139799015"
variation 575
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:367554033"
variation 580
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:145596814"
variation 598
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="t"
/db_xref="dbSNP:201657953"
variation 605
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:35327472"
exon 657..789
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 665
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:201934991"
variation 690
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200684700"
variation 700
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:373928835"
variation 707
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200143484"
variation 711
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:147052938"
variation 715
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:141814514"
variation 716
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:149429362"
variation 717
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:139662037"
variation 729
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:368079801"
variation 735
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:370274083"
variation 771
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:138593136"
variation 778
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="t"
/db_xref="dbSNP:79817199"
exon 790..878
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 790
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:139871503"
variation 799
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:192369215"
variation 844
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:139054774"
variation 870
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:144396791"
exon 879..935
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 880
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:145957679"
variation 906
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:181841165"
variation 911
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:370833761"
variation 929
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:373110656"
variation 930
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:147682470"
exon 936..1079
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 938
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:371210234"
variation 940
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:3731591"
variation 963
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:143313030"
variation 964
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:373351039"
variation 978
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:376620256"
variation 1002
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:199684126"
variation 1011
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:34134244"
variation 1031
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200943797"
variation 1045
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:138482669"
variation 1046
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:145152327"
variation 1058
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:80271565"
variation 1076
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:147605304"
variation 1078
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:34531133"
exon 1080..4859
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 1103
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:372485152"
variation 1108
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:202117444"
variation 1120
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:79028313"
variation 1160
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:375861610"
variation 1165
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:61745917"
variation 1191
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:75823514"
variation 1202
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:374562891"
variation 1237
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:62189812"
variation 1375
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:188118173"
variation 1408
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:368890892"
variation 1449
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:76218537"
variation 1467
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:139391430"
variation 1510
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:143376654"
variation 1603
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:191871396"
variation 1604
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:10933164"
variation 1651
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:11546330"
variation 1664
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:118113269"
variation 1668
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:73994326"
variation 1679
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:78221368"
variation 1681
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:112301740"
variation 1696
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:183998589"
variation 1702
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:113017295"
variation 1737
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:371111949"
variation 1788
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:188393451"
variation 1804
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:181594968"
variation 1830
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:147140400"
variation 1861
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:376105138"
STS 1913..2152
/gene="RHBDD1"
/gene_synonym="RRP4"
/standard_name="STS-AA026333"
/db_xref="UniSTS:7359"
variation 1913
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:186863618"
variation 1929
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:112591975"
variation 1956
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:373045766"
variation 2056
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:370392235"
variation 2241
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:140368905"
variation 2263
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace=""
/replace="tata"
/db_xref="dbSNP:112998508"
variation 2290
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="t"
/db_xref="dbSNP:190508675"
variation 2336
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:58972768"
variation 2339
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:182345283"
variation 2513
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:376153985"
variation 2612
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:149696275"
variation 2684
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:80209084"
variation 2730
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:186129427"
variation 2784
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:189850345"
variation 2982
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:182115161"
STS 3073..3207
/gene="RHBDD1"
/gene_synonym="RRP4"
/standard_name="RH93567"
/db_xref="UniSTS:88419"
variation 3085
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:62189813"
variation 3151
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:374439075"
variation 3182
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:144514303"
variation 3224
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:6730861"
variation 3290
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:115641100"
variation 3308
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:185756834"
variation 3370
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:148450110"
variation 3392
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:142642955"
variation 3528
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:114007993"
variation 3598
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:190128519"
variation 3866..3867
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace=""
/replace="tga"
/db_xref="dbSNP:150492139"
variation 3968
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:151008266"
variation 4090
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:141124889"
variation 4149
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:111462114"
variation 4158
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:368809695"
variation 4168
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:111659793"
variation 4171
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:143539019"
variation 4292
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:113962410"
variation 4318..4327
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace=""
/replace="caatacttaa"
/db_xref="dbSNP:146932158"
variation 4340
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:183552826"
variation 4359
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:188596520"
STS 4539..4718
/gene="RHBDD1"
/gene_synonym="RRP4"
/standard_name="RH103372"
/db_xref="UniSTS:97699"
variation 4606
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:115132927"
variation 4613
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:146794085"
STS 4617..4801
/gene="RHBDD1"
/gene_synonym="RRP4"
/standard_name="RH93902"
/db_xref="UniSTS:84139"
variation 4705
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:140581176"
variation 4719
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:374555041"
variation 4732
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="t"
/db_xref="dbSNP:11546331"
variation 4734..4735
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace=""
/replace="tgtc"
/db_xref="dbSNP:376520014"
variation 4762
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:150423076"
ORIGIN
ggccgagccgtccgctttaaggccctcccctcccgcacccggccccaggaacccggggcgccccggatcgggaacgtgcgtgatgacgcacgtgcgcgcgaagacgtggggacgcaggcgggtcgtagagagcgttcagccgtctgtatatctccccagatacctgaaactgaccacctgagtacgttttcccattgctgagctgtttccctgatatctggccatgcaacggagatcaagagggataaatactggacttattctactcctttctcaaatcttccatgttgggatcaacaatattccacctgtcaccctagcaactttggccctcaacatctggttcttcttgaaccctcagaagccactgtatagctcctgccttagtgtggagaagtgttaccagcaaaaagactggcagcgtttactgctctctccccttcaccatgctgatgattggcatttgtatttcaatatggcatccatgctctggaaaggaataaatctagaaagaagactgggaagtagatggtttgcctatgttatcaccgcattttctgtacttactggagtggtatacctgctcttgcaatttgctgttgccgaatttatggatgaacctgacttcaaaaggagctgtgctgtaggtttctcaggagttttgtttgctttgaaagttcttaacaaccattattgccctggaggctttgtcaacattttgggctttcctgtaccgaacagatttgcttgttgggtcgaacttgtggctattcatttattctcaccagggacttccttcgctgggcatctggctgggattcttgttggactaatgtacactcaagggcctctgaagaaaatcatggaagcatgtgcaggcggtttttcctccagtgttggttacccaggacggcaatactactttaatagttcaggcagctctggatatcaggattattatccgcatggcaggccagatcactatgaagaagcacccaggaactatgacacgtacacagcaggactgagtgaagaagaacagctcgagagagcattacaagccagcctctgggaccgaggaaataccagaaatagcccaccaccctacgggtttcatctctcaccagaagaaatgaggagacagcggcttcacagattcgatagccagtgaggtggcatcttgggaagacatggcctattcgtgtaattattgcccatttggctcattccccaagcccctaattcattttaattcattttaaacaaaagcagagtacaccggtattgctccagatcgctcacatcacctgggacagtcccatggcccctatgagtcaactcacagcttgcggggagtgggccttctcctggccttgttcttgctcataaacaggtcacttcctccatgaagagaccagtttccacgctcccatctctcactgctgactcagcgatgcctctgcctcggtctgcttttgaagactgtgaccttcaccaggaggttttacttacaccagtcgggaagattagtccctcattctgcctggagtgccccgtgtttgacttggcagcgggtgtggagccatccccgcgtcctcctggcgcattgccactgtggctgtccaggaacaggatgtggctgccttggccgaatgttgtcctactctccccaaccccggcgcctcagctcctcagctcctcgggcccctgcgtctggctggtgtttgcagggctttcgctctgctctggtattgctctgcctttatagaaagtcttattgaagaagtgtaagaaagacctaaggtggggaagactcctacacacaccattagtatcagtgacaccagcaatgtaggttcccagccccttcccagtggcagcttgtgtgtccaggagataggacatcatttaacgcatcagcaaagtagcagcagatgccacatacagagtagagcgaaggcatttggtggatcggtcactagagatctatcttgcagaaagtatgtttttcctcataaaagtgcctcttaattggccattgtaccagccacttgtcctagccaaatgtccaaaacacgcccttgggccccgccacgttacaatccacagattgtctgtctgagtcgtttaaggcatttcctggtgcttgtgttccatgaataaaaggacaaagtcagaagatcactgatgtcttactgtcaacagagatattttaaaagagagaagcaggaaaagatcttccttttttgatctacaacttatatagttttctgattatgcacataatagatatgccttccagatgcataaggcaaacatctggaaagaaatatacccaaatcttagcaggggttatctttgggagtggagtacatgggattttgctttcttcatttttataattttatattactgtcttggaagatgtgtttatgtgtgtgtgttacttttacaatcaggaaaacatatttaataacatatagtcaagaaaacagacttaaaaataaatactatgtgtccattgagaaaattcacaatataaacagaaatacaaataaatacatacacaattttaaagtcacctgtagccctacccttagaggtacccagggttaacattttggtggtattgtcttatcaatttttccgttgatacattcagcaaatttggagcacattgaccatggagttttgtgtccaaatccaatctgaatttacctggaagaggccttgacacctgcatggaaatgagctaagaaaaccactggagccttgggagctctttggcctcctggctggcccagtaatatctgagctcctttggttaatttataactgatataaaactacatcttctttataatataaattgtacctgtgagtctagaagctttaaatgtgtttaaattaaaatattcaagctaaatgttactgctctctcccaaattctgtaagtttgactcccgttaccccaattagaagtaacttctttgtttcatgccacttttatagcatttggtaattctgctataacacatcttgcccctattattaactgtgcacagctacacaaaggtgtgccttctacgtgggaacatggattgtgaatgactctgtaatgaggcctgagtcttagttatctttccactcactccccgtctcccctttccaaccccaaaggctcacgataggggctcactaaatgtcagtgtttcaccaaagtattttttccattgtattaagagtccagtcactgtatatggaagtattttattttttatttttttatatcacttgagtccactagtagtacttccttgctctgtttgacttgtcagatacaaagacacgggattagattttgggtggtaaaattgtgatacgcatggctgttgatggagtggaacatcttagtgatgtgagaaaggtcattttagttataaatgtaaaccaattactttagcacaacaataaagatgttctggaaattattataattattttagttaatggacttgcctgtaacaagtgcttatgtttggaatgtccattttattttattttcctctacaataaggaatccctaaagttatgccaacaaactggaattggattgagaaagacaaaagcaagtgagcaagtgtattagactaattatctctagtagggaataagcacttagagctaattttttaatttggtttatttattagtagctccctgattgtctgttaagcccctggttcccacagtttggtgtggtcagtcaacttaagcgaccttttaatgcagaatctttacttggttctgaagaggaggcagtagttaaaattgcttcctcttaatgactctgaatgtattgcctgtgattccaaagttgtacataattgttcagacctcctccatccttttaaattgcctgctgcagtaaataactagtttgagtagaactagatcctgtctatctatttggcacatgttctgctgcctggggagtaagcaagctaaagggatgagaaagaccacctccccctaccctggaaattgcactgcaaggcagggcgagaatggggtagctggcagacctggcctccttgttcccagtcttagtttttcttgagagattcagtattcagtaaagaatagcattcaattagtcaaaaaatatatatataacttcttcctttcccttcccatgaatcattgcagtcattccctaagtttcttctctttttttttcatggctgctagtattttattttagaatcacagactctcagcttagagagtcacagtatctcaattatttgctctgttcaatacttaacaatacctcctcactcaattctacataactccagcttagtcttccaaaattcactttcatgatgccactcagcatctcaaatacctttcattggctctctgctgccaaaggataaaggtcaaagtcattagcctcaacagtgggcttcaaccagcctttggacctcagccccatttatccatcacagaggctggtaactagtctcactgctcaggctgtgagtgttcctgatcttgtgacattctgtgctgtgcttttacatggaacagctctttcctctctcttggcccattcagatcctcctcatccagcccccatctgaatcctgtaacagacacaaccacatctacacagtttccacataccacttggaattgctggttatgctgcaatgagagaatgtctttgtctttaaattgtaagcttcatgagggcagggaccatctgtttctctgtctctcctcacagtgccttgagcagtacgttgtctggaatgtcagaaccaataaatacttgtggattgaaacaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:84236 -> Molecular function: GO:0004175 [endopeptidase activity] evidence: IDA
GeneID:84236 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: IDA
GeneID:84236 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: IEA
GeneID:84236 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:84236 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:84236 -> Biological process: GO:0010954 [positive regulation of protein processing] evidence: ISS
GeneID:84236 -> Biological process: GO:0030433 [ER-associated protein catabolic process] evidence: ISS
GeneID:84236 -> Biological process: GO:0031293 [membrane protein intracellular domain proteolysis] evidence: ISS
GeneID:84236 -> Biological process: GO:0033619 [membrane protein proteolysis] evidence: IDA
GeneID:84236 -> Biological process: GO:0034620 [cellular response to unfolded protein] evidence: ISS
GeneID:84236 -> Biological process: GO:0034644 [cellular response to UV] evidence: ISS
GeneID:84236 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IDA
GeneID:84236 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IMP
GeneID:84236 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: ISS
GeneID:84236 -> Biological process: GO:0043687 [post-translational protein modification] evidence: ISS
GeneID:84236 -> Biological process: GO:0045732 [positive regulation of protein catabolic process] evidence: IDA
GeneID:84236 -> Biological process: GO:0045732 [positive regulation of protein catabolic process] evidence: IMP
GeneID:84236 -> Biological process: GO:0048515 [spermatid differentiation] evidence: ISS
GeneID:84236 -> Biological process: GO:0051047 [positive regulation of secretion] evidence: IMP
GeneID:84236 -> Biological process: GO:2000254 [regulation of male germ cell proliferation] evidence: ISS
GeneID:84236 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
GeneID:84236 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: ISS
GeneID:84236 -> Cellular component: GO:0030176 [integral to endoplasmic reticulum membrane] evidence: ISS
GeneID:84236 -> Cellular component: GO:0044322 [endoplasmic reticulum quality control compartment] evidence: ISS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_115652 -> EC 3.4.21.105
by
@meso_cacase at
DBCLS
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