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2024-04-20 09:07:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001102566 1480 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.
ACCESSION NM_001102566 XM_929467 XM_938798
VERSION NM_001102566.1 GI:157266261
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 1480)
AUTHORS Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V.,
Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C.,
Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F.,
Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M.,
Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A.
and Borecki,I.B.
CONSRTM GIANT Consortium; MAGIC Consortium; GLGC Consortium
TITLE Genome-wide association for abdominal subcutaneous and visceral
adipose reveals a novel locus for visceral fat in women
JOURNAL PLoS Genet. 8 (5), E1002695 (2012)
PUBMED 22589738
REFERENCE 2 (bases 1 to 1480)
AUTHORS Ma,Y., Qi,X., Du,J., Song,S., Feng,D., Qi,J., Zhu,Z., Zhang,X.,
Xiao,H., Han,Z. and Hao,X.
TITLE Identification of candidate genes for human pituitary development
by EST analysis
JOURNAL BMC Genomics 10, 109 (2009)
PUBMED 19284880
REMARK Publication Status: Online-Only
REFERENCE 3 (bases 1 to 1480)
AUTHORS Bulfone,A., Caccioppoli,C., Pardini,C., Faedo,A., Martinez,S. and
Banfi,S.
TITLE Pcp4l1, a novel gene encoding a Pcp4-like polypeptide, is expressed
in specific domains of the developing brain
JOURNAL Gene Expr. Patterns 4 (3), 297-301 (2004)
PUBMED 15053978
REMARK GeneRIF: Cloning and expression analysis of the mouse Pcp4l1 gene,
and sequence comparison to human PCP4L1.
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BC028905.2, CN283207.1 and CD237602.1.
On or before Sep 15, 2007 this sequence version replaced
gi:113411507, gi:113412420.
##Evidence-Data-START##
Transcript exon combination :: BC028905.2, BC067884.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-463 BC028905.2 1-463
464-699 CN283207.1 430-665
700-1032 CD237602.1 375-707
1033-1480 BC028905.2 1034-1481
FEATURES Location/Qualifiers
source 1..1480
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q23.3"
gene 1..1480
/gene="PCP4L1"
/gene_synonym="IQM1"
/note="Purkinje cell protein 4 like 1"
/db_xref="GeneID:654790"
/db_xref="HGNC:20448"
exon 1..257
/gene="PCP4L1"
/gene_synonym="IQM1"
/inference="alignment:Splign:1.39.8"
misc_feature 18..20
/gene="PCP4L1"
/gene_synonym="IQM1"
/note="upstream in-frame stop codon"
CDS 249..455
/gene="PCP4L1"
/gene_synonym="IQM1"
/note="PCP4-like protein 1"
/codon_start=1
/product="Purkinje cell protein 4-like protein 1"
/protein_id="NP_001096036.1"
/db_xref="GI:157266262"
/db_xref="CCDS:CCDS53412.1"
/db_xref="GeneID:654790"
/db_xref="HGNC:20448"
/translation="
MSELNTKTSPATNQAAGQEEKGKAGNVKKAEEEEEIDIDLTAPETEKAALAIQGKFRRFQKRKKDPSS
"
exon 258..312
/gene="PCP4L1"
/gene_synonym="IQM1"
/inference="alignment:Splign:1.39.8"
variation 304
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372790534"
exon 313..1424
/gene="PCP4L1"
/gene_synonym="IQM1"
/inference="alignment:Splign:1.39.8"
variation 337
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:184737246"
variation 406
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369702581"
variation 430
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:41270859"
variation 440
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:116246087"
variation 464
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:4477295"
variation 486
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114515215"
variation 495
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188331136"
variation 818
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:12091289"
variation 835
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:368664448"
variation 957
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:75220443"
variation 1031
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:56063771"
variation 1141
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:114425216"
variation 1180
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:74972545"
variation 1214
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114884895"
variation 1243
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1128659"
variation 1249
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375197955"
variation 1294
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:139282912"
variation 1326
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:192697274"
variation 1336
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:200587784"
polyA_signal 1388..1393
/gene="PCP4L1"
/gene_synonym="IQM1"
variation 1423
/gene="PCP4L1"
/gene_synonym="IQM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:12089034"
polyA_site 1424
/gene="PCP4L1"
/gene_synonym="IQM1"
ORIGIN
ggccggaggcggcgagctgagcggctctgacaggacgggtcgcagggggtcgcctggccggagctgggctccgagaatcccgggtgccagcaccagagcagcggctctccgcactaactctcctctcctggtcagctgtaacccctgccgcagagcccggcaactttcagctgtcgcccgcggagccccgagggccactcgcctcacctgtgcgtgcagcgcctcgcgcgccctgtccggctgcggagatgagcgagcttaataccaaaacatccccagcaaccaaccaggcagctggccaagaggaaaaaggaaaagctggcaatgtcaagaaggcggaggaggaggaggagattgacattgatctgacagcaccagaaacagagaaggctgcccttgctattcagggcaagttccggcgatttcagaaaaggaaaaaggatcccagctcctgaatggccaggcttgcccttcaccttcaccttcatgctggtcccttctctccccttctccacacccatgtatctttatcccttgtccctctagcctttccttgaggcaagttcaacctttatatactcttgtatctggccccctcaagccatcacagaagtagaggcacaagagaggtggagaagatgaagacttcaatcagcagtcactagtctaagggtggaacaatttcttcttggtataaggttctttgatcagtagctatgcctgccctgtagggctaaacaagaggcttcgaggctgagagatctccccaaagaacaatgtgggaaggaggggaaggctttcagagtagggtgcctgagggtgggacatatgcactgttctgctagttacggcattcacactttaggtaacattttttttccccttcagatccttctgcaccaactccaacttcccctcccaggatctaagccacagtggggactggagcctcgttttccccctaggcagacctaaatcaagcagcttaccacaatagtgcatgctgagtagattagttccaaggaagggagactggaatgctggtgtcaaggaaaagcctccctcatcatctagtctaagaccataacgggcagaagcataagaggttccagggccataggagaatgagaagtagggcacatatagggaggaaagaaaagtgaagaagggggaaatctctgaatttttttactgctgggaaaagtgtactacatgaaggatgcttggggctttgctaacctgctcaccgctaaccctccaagtctaaccatccccagaggccacacaaaccaagtgactcctgtagttcccatttgccccactatggagtcagggcaaaagtggaatagccactccatgtgattttagcatgtttaatcattttaacaataaaccaccccacaaatggggtcatttaacctctaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
by
@meso_cacase at
DBCLS
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