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2024-04-19 08:05:07, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004378 782 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens cellular retinoic acid binding protein 1 (CRABP1),
mRNA.
ACCESSION NM_004378
VERSION NM_004378.2 GI:193083132
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 782)
AUTHORS Chile,T., Correa-Giannella,M.L., Fortes,M.A., Bronstein,M.D.,
Cunha-Neto,M.B., Giannella-Neto,D. and Giorgi,R.R.
TITLE Expression of CRABP1, GRP, and RERG mRNA in clinically
non-functioning and functioning pituitary adenomas
JOURNAL J. Endocrinol. Invest. 34 (8), E214-E218 (2011)
PUBMED 21270509
REMARK GeneRIF: Results describe the mRNA expression of CRABP1, RERG, and
GRP in pituitary adenomas.
REFERENCE 2 (bases 1 to 782)
AUTHORS Oshikawa,M., Tsutsui,C., Ikegami,T., Fuchida,Y., Matsubara,M.,
Toyama,S., Usami,R., Ohtoko,K. and Kato,S.
TITLE Full-length transcriptome analysis of human retina-derived cell
lines ARPE-19 and Y79 using the vector-capping method
JOURNAL Invest. Ophthalmol. Vis. Sci. 52 (9), 6662-6670 (2011)
PUBMED 21697133
REMARK Publication Status: Online-Only
REFERENCE 3 (bases 1 to 782)
AUTHORS Miyake,T., Ueda,Y., Matsuzaki,S., Miyatake,T., Yoshino,K.,
Fujita,M., Nomura,T., Enomoto,T. and Kimura,T.
TITLE CRABP1-reduced expression is associated with poorer prognosis in
serous and clear cell ovarian adenocarcinoma
JOURNAL J. Cancer Res. Clin. Oncol. 137 (4), 715-722 (2011)
PUBMED 20571827
REMARK GeneRIF: reduced expression of CRABP1 has a potential as a
prognostic marker for serous adenocarcinoma which is the most
frequent histological ovarian tumor type and also for clear cell
carcinoma that often exhibits chemo-resistance.
REFERENCE 4 (bases 1 to 782)
AUTHORS Roder,C., Peters,V., Kasuya,H., Nishizawa,T., Takehara,Y., Berg,D.,
Schulte,C., Khan,N., Tatagiba,M. and Krischek,B.
TITLE Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya
disease in European patients
JOURNAL Acta Neurochir (Wien) 152 (12), 2153-2160 (2010)
PUBMED 20571834
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 782)
AUTHORS Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J.,
Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S.,
Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
TITLE Maternal genes and facial clefts in offspring: a comprehensive
search for genetic associations in two population-based cleft
studies from Scandinavia
JOURNAL PLoS ONE 5 (7), E11493 (2010)
PUBMED 20634891
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 782)
AUTHORS Flagiello,D., Apiou,F., Gibaud,A., Poupon,M.F., Dutrillaux,B. and
Malfoy,B.
TITLE Assignment of the genes for cellular retinoic acid binding protein
1 (CRABP1) and 2 (CRABP2) to human chromosome band 15q24 and
1q21.3, respectively, by in situ hybridization
JOURNAL Cytogenet. Cell Genet. 76 (1-2), 17-18 (1997)
PUBMED 9154115
REFERENCE 7 (bases 1 to 782)
AUTHORS Liu,W., Hellman,P., Li,Q., Yu,W.R., Juhlin,C., Nordlinder,H.,
Rollman,O., Akerstrom,G., Torma,H. and Melhus,H.
TITLE Biosynthesis and function of all-trans- and 9-cis-retinoic acid in
parathyroid cells
JOURNAL Biochem. Biophys. Res. Commun. 229 (3), 922-929 (1996)
PUBMED 9005841
REFERENCE 8 (bases 1 to 782)
AUTHORS Eller,M.S., Oleksiak,M.F., McQuaid,T.J., McAfee,S.G. and
Gilchrest,B.A.
TITLE The molecular cloning and expression of two CRABP cDNAs from human
skin
JOURNAL Exp. Cell Res. 198 (2), 328-336 (1992)
PUBMED 1309505
REFERENCE 9 (bases 1 to 782)
AUTHORS Astrom,A., Tavakkol,A., Pettersson,U., Cromie,M., Elder,J.T. and
Voorhees,J.J.
TITLE Molecular cloning of two human cellular retinoic acid-binding
proteins (CRABP). Retinoic acid-induced expression of CRABP-II but
not CRABP-I in adult human skin in vivo and in skin fibroblasts in
vitro
JOURNAL J. Biol. Chem. 266 (26), 17662-17666 (1991)
PUBMED 1654334
REFERENCE 10 (bases 1 to 782)
AUTHORS Ong,D.E.
TITLE Cellular retinoid-binding proteins
JOURNAL Arch Dermatol 123 (12), 1693-1695A (1987)
PUBMED 2825608
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AU132726.1, BC022069.1 and
AI863257.1.
On Jun 27, 2008 this sequence version replaced gi:4758051.
Summary: This gene encodes a specific binding protein for a vitamin
A family member and is thought to play an important role in
retinoic acid-mediated differentiation and proliferation processes.
It is structurally similar to the cellular retinol-binding
proteins, but binds only retinoic acid at specific sites within the
nucleus, which may contribute to vitamin A-directed differentiation
in epithelial tissue. [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 :: AU132726.1, BU558224.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-164 AU132726.1 1-164
165-438 BC022069.1 141-414
439-782 AI863257.1 1-344 c
FEATURES Location/Qualifiers
source 1..782
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q24"
gene 1..782
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/note="cellular retinoic acid binding protein 1"
/db_xref="GeneID:1381"
/db_xref="HGNC:2338"
/db_xref="HPRD:07520"
/db_xref="MIM:180230"
exon 1..175
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/inference="alignment:Splign:1.39.8"
variation 14
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:76956384"
variation 90
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:370214828"
variation 98
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="c"
/db_xref="dbSNP:376583344"
CDS 106..519
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/note="cellular retinoic acid-binding protein I"
/codon_start=1
/product="cellular retinoic acid-binding protein 1"
/protein_id="NP_004369.1"
/db_xref="GI:4758052"
/db_xref="CCDS:CCDS10301.1"
/db_xref="GeneID:1381"
/db_xref="HGNC:2338"
/db_xref="HPRD:07520"
/db_xref="MIM:180230"
/translation="
MPNFAGTWKMRSSENFDELLKALGVNAMLRKVAVAAASKPHVEIRQDGDQFYIKTSTTVRTTEINFKVGEGFEEETVDGRKCRSLATWENENKIHCTQTLLEGDGPKTYWTRELANDELILTFGADDVVCTRIYVRE
"
misc_feature 118..516
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/note="Lipocalin / cytosolic fatty-acid binding protein
family; Region: Lipocalin; pfam00061"
/db_xref="CDD:215686"
misc_feature 166..198
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P29762.2);
Region: Nuclear localization signal (By similarity)"
misc_feature 499..507
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P29762.2);
Region: Retinoic acid binding (By similarity)"
variation 117
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:143159972"
variation 165
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="g"
/db_xref="dbSNP:1127472"
exon 176..354
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/inference="alignment:Splign:1.39.8"
STS 182..354
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/standard_name="Crabp1"
/db_xref="UniSTS:141393"
variation 210
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="g"
/db_xref="dbSNP:151297065"
variation 238
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:377695187"
variation 276
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="g"
/db_xref="dbSNP:144623327"
STS 297..448
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/standard_name="Crabp1"
/db_xref="UniSTS:186507"
variation 309
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:139444854"
variation 350
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="g"
/replace="t"
/db_xref="dbSNP:201917878"
variation 354
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="g"
/db_xref="dbSNP:372532542"
exon 355..468
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/inference="alignment:Splign:1.39.8"
variation 359
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372825750"
variation 364
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370616671"
variation 389
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="t"
/db_xref="dbSNP:374536418"
variation 403
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:146054360"
variation 415
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:143976499"
variation 417
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:146438158"
variation 440
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="c"
/db_xref="dbSNP:17851967"
variation 445
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="c"
/db_xref="dbSNP:139860189"
exon 469..772
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/inference="alignment:Splign:1.39.8"
variation 471
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201961718"
variation 477
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201099878"
variation 480
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:369611524"
variation 485
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:373989417"
variation 487
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:185656115"
STS 489..742
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/standard_name="WI-20012"
/db_xref="UniSTS:43715"
variation 516
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:78554547"
STS 523..760
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/standard_name="D15S1227"
/db_xref="UniSTS:26305"
STS 536..742
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/standard_name="STS-W95693"
/db_xref="UniSTS:43714"
variation 597
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:188311015"
variation 603
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:180673426"
variation 627
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="a"
/replace="g"
/db_xref="dbSNP:373890664"
variation 704
/gene="CRABP1"
/gene_synonym="CRABP; CRABP-I; CRABPI; RBP5"
/replace="c"
/replace="t"
/db_xref="dbSNP:140883903"
ORIGIN
aaggcgcgcagcgctgggcgcaaagcgccagtctccgccttgcgagctcagagtgtgcccgctgcgccgccgctgtccgtacctgccgccgccgccaccgccaccatgcccaacttcgccggcacctggaagatgcgcagcagcgagaatttcgacgagctgctcaaggcactgggtgtgaacgccatgctgaggaaagtggccgtagcggctgcgtccaagccgcacgtggagatccgccaggacggggatcagttctacatcaagacatccaccacggtgcgcaccactgagatcaacttcaaggtcggagaaggctttgaggaggagaccgtggacggacgcaagtgcaggagtttagccacttgggagaatgagaacaagatccactgcacgcaaactcttcttgaaggggacggccccaaaacctactggacccgtgagctggccaacgatgaacttatcctgacgtttggcgccgatgacgtggtctgcaccagaatttatgtccgagagtgaaggcagctggcttgctcctactttcaggaagggatgcaggctcccctgaggaatatgtcatagttctgagctgccagtggaccgcccttttcccctaccaatattaggtgatcccgttttccccatgacaatgttgtagtgtcccccacccccaccccccaggccttggtgcctcttgtatccctagtgctccatagtttggcatttgcacggtttcgaagtcattaaactggttagacgtgtctcaacctttaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1381 -> Molecular function: GO:0001972 [retinoic acid binding] evidence: IEA
GeneID:1381 -> Molecular function: GO:0005215 [transporter activity] evidence: IEA
GeneID:1381 -> Molecular function: GO:0005501 [retinoid binding] evidence: TAS
GeneID:1381 -> Molecular function: GO:0016918 [retinal binding] evidence: IEA
GeneID:1381 -> Molecular function: GO:0019841 [retinol binding] evidence: IEA
GeneID:1381 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
GeneID:1381 -> Biological process: GO:0007275 [multicellular organismal development] evidence: TAS
GeneID:1381 -> Cellular component: GO:0005829 [cytosol] evidence: IEA
by
@meso_cacase at
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