Home |
Help |
Advanced search
2024-04-26 02:32:38, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001212 1163 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens complement component 1, q subcomponent binding protein
(C1QBP), mRNA.
ACCESSION NM_001212
VERSION NM_001212.3 GI:28872801
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 1163)
AUTHORS Yu,G. and Wang,J.
TITLE Significance of hyaluronan binding protein (HABP1/P32/gC1qR)
expression in advanced serous ovarian cancer patients
JOURNAL Exp. Mol. Pathol. 94 (1), 210-215 (2013)
PUBMED 22771308
REMARK GeneRIF: in ovarian serous carcinoma, HABP1 overexpression was
correlated to histological-differentiation, residual tumor-size,
serum CA-125 and stage; increased expression associated with
cisplatin resistance; HAPBP1 overexpression in primary ovarian
carcinomas is related to decrease in overall survival and
progression free survival
REFERENCE 2 (bases 1 to 1163)
AUTHORS Hosszu,K.K., Valentino,A., Vinayagasundaram,U.,
Vinayagasundaram,R., Joyce,M.G., Ji,Y., Peerschke,E.I. and
Ghebrehiwet,B.
TITLE DC-SIGN, C1q, and gC1qR form a trimolecular receptor complex on the
surface of monocyte-derived immature dendritic cells
JOURNAL Blood 120 (6), 1228-1236 (2012)
PUBMED 22700724
REMARK GeneRIF: C1q/gC1qR may regulate dendritic cells differentiation and
function through the DC-SIGN-mediated induction of cell-signaling
pathways.
REFERENCE 3 (bases 1 to 1163)
AUTHORS Kaul,R., Saha,P., Saradhi,M., Prasad,R.L., Chatterjee,S., Ghosh,I.,
Tyagi,R.K. and Datta,K.
TITLE Overexpression of hyaluronan-binding protein 1 (HABP1/p32/gC1qR) in
HepG2 cells leads to increased hyaluronan synthesis and cell
proliferation by up-regulation of cyclin D1 in AKT-dependent
pathway
JOURNAL J. Biol. Chem. 287 (23), 19750-19764 (2012)
PUBMED 22451658
REMARK GeneRIF: Overexpression of hyaluronan-binding protein 1
(HABP1/p32/gC1qR) in HepG2 cells leads to increased hyaluronan
synthesis and cell proliferation by up-regulation of cyclin D1 in
AKT-dependent pathway.
REFERENCE 4 (bases 1 to 1163)
AUTHORS Basu,K., Sen,A., Ray,K., Ghosh,I., Datta,K. and Mukhopadhyay,A.
TITLE Genetic association and gene-gene interaction of HAS2, HABP1 and
HYAL3 implicate hyaluronan metabolic genes in glaucomatous
neurodegeneration
JOURNAL Dis. Markers 33 (3), 145-154 (2012)
PUBMED 22960332
REMARK GeneRIF: polymorphisms in HABP1 are potentially involved in
glaucomatous neurodegeneration.
REFERENCE 5 (bases 1 to 1163)
AUTHORS McGee,A.M., Douglas,D.L., Liang,Y., Hyder,S.M. and Baines,C.P.
TITLE The mitochondrial protein C1qbp promotes cell proliferation,
migration and resistance to cell death
JOURNAL Cell Cycle 10 (23), 4119-4127 (2011)
PUBMED 22101277
REMARK GeneRIF: C1qbp is upregulated in human lung and colon cancer cell
lines and tumors.
REFERENCE 6 (bases 1 to 1163)
AUTHORS Fridell,R.A., Harding,L.S., Bogerd,H.P. and Cullen,B.R.
TITLE Identification of a novel human zinc finger protein that
specifically interacts with the activation domain of lentiviral Tat
proteins
JOURNAL Virology 209 (2), 347-357 (1995)
PUBMED 7778269
REFERENCE 7 (bases 1 to 1163)
AUTHORS Ghebrehiwet,B., Lim,B.L., Peerschke,E.I., Willis,A.C. and Reid,K.B.
TITLE Isolation, cDNA cloning, and overexpression of a 33-kD cell surface
glycoprotein that binds to the globular 'heads' of C1q
JOURNAL J. Exp. Med. 179 (6), 1809-1821 (1994)
PUBMED 8195709
REFERENCE 8 (bases 1 to 1163)
AUTHORS Luo,Y., Yu,H. and Peterlin,B.M.
TITLE Cellular protein modulates effects of human immunodeficiency virus
type 1 Rev
JOURNAL J. Virol. 68 (6), 3850-3856 (1994)
PUBMED 8189522
REFERENCE 9 (bases 1 to 1163)
AUTHORS Krainer,A.R., Mayeda,A., Kozak,D. and Binns,G.
TITLE Functional expression of cloned human splicing factor SF2: homology
to RNA-binding proteins, U1 70K, and Drosophila splicing regulators
JOURNAL Cell 66 (2), 383-394 (1991)
PUBMED 1830244
REFERENCE 10 (bases 1 to 1163)
AUTHORS Busby,T.F. and Ingham,K.C.
TITLE NH2-terminal calcium-binding domain of human complement C1s-
mediates the interaction of C1r- with C1q
JOURNAL Biochemistry 29 (19), 4613-4618 (1990)
PUBMED 2372546
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from L04636.1.
On Mar 6, 2003 this sequence version replaced gi:11038669.
Summary: The human complement subcomponent C1q associates with C1r
and C1s in order to yield the first component of the serum
complement system. The protein encoded by this gene is known to
bind to the globular heads of C1q molecules and inhibit C1
activation. This protein has also been identified as the p32
subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic
acid-binding protein. [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 :: L04636.1, AL571335.3 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: full length.
FEATURES Location/Qualifiers
source 1..1163
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p13.3"
gene 1..1163
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/note="complement component 1, q subcomponent binding
protein"
/db_xref="GeneID:708"
/db_xref="HGNC:1243"
/db_xref="HPRD:03168"
/db_xref="MIM:601269"
exon 1..310
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/inference="alignment:Splign:1.39.8"
CDS 79..927
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/note="C1q globular domain-binding protein;
hyaluronan-binding protein 1; ASF/SF2-associated protein
p32; splicing factor SF2-associated protein; complement
component 1 Q subcomponent-binding protein, mitochondrial;
p33; glycoprotein gC1qBP; mitochondrial matrix protein
p32"
/codon_start=1
/product="complement component 1 Q subcomponent-binding
protein, mitochondrial precursor"
/protein_id="NP_001203.1"
/db_xref="GI:4502491"
/db_xref="CCDS:CCDS11071.1"
/db_xref="GeneID:708"
/db_xref="HGNC:1243"
/db_xref="HPRD:03168"
/db_xref="MIM:601269"
/translation="
MLPLLRCVPRVLGSSVAGLRAAAPASPFRQLLQPAPRLCTRPFGLLSVRAGSERRPGLLRPRGPCACGCGCGSLHTDGDKAFVDFLSDEIKEERKIQKHKTLPKMSGGWELELNGTEAKLVRKVAGEKITVTFNINNSIPPTFDGEEEPSQGQKVEEQEPELTSTPNFVVEVIKNDDGKKALVLDCHYPEDEVGQEDEAESDIFSIREVSFQSTGESEWKDTNYTLNTDSLDWALYDHLMDFLADRGVDNTFADELVELSTALEHQEYITFLEDLKSFVKSQ
"
transit_peptide 79..297
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
misc_feature 295..297
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/citation=[7]
mat_peptide 298..924
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/product="complement component 1 Q subcomponent-binding
protein, mitochondrial"
misc_feature 304..357
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q07021.1);
Region: C1q binding"
misc_feature 334..915
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/note="Mitochondrial glycoprotein; Region: MAM33;
pfam02330"
/db_xref="CDD:202207"
misc_feature 349..351
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q07021.1); acetylation site"
misc_feature 532..534
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:02856"
misc_feature 580..717
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q07021.1);
Region: Interation with MAVS"
misc_feature 640..642
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine; propagated from
UniProtKB/Swiss-Prot (Q07021.1); phosphorylation site"
misc_feature 679..681
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q07021.1); phosphorylation site"
exon 311..461
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/inference="alignment:Splign:1.39.8"
exon 462..555
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/inference="alignment:Splign:1.39.8"
exon 556..654
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/inference="alignment:Splign:1.39.8"
exon 655..777
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/inference="alignment:Splign:1.39.8"
STS 656..833
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/standard_name="RH78721"
/db_xref="UniSTS:80126"
variation 673
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/replace="c"
/replace="g"
/db_xref="dbSNP:11551698"
variation 680
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/replace="c"
/replace="g"
/db_xref="dbSNP:11551699"
exon 778..1163
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/inference="alignment:Splign:1.39.8"
variation 781
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1804437"
STS 816..951
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/standard_name="WI-18770"
/db_xref="UniSTS:19911"
STS 941..1051
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/standard_name="D17S2014"
/db_xref="UniSTS:69376"
variation 988
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1804438"
variation 1046..1047
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/replace=""
/replace="a"
/db_xref="dbSNP:41307958"
polyA_site 1163
/gene="C1QBP"
/gene_synonym="gC1Q-R; GC1QBP; gC1qR; HABP1; p32; SF2p32"
/experiment="experimental evidence, no additional details
recorded"
ORIGIN
ccggcggcgcctcaggtcgcggggcgcctaggcctgggttgtcctttgcatctgcacgtgttcgcagtcgtttccgcgatgctgcctctgctgcgctgcgtgccccgtgtgctgggctcctccgtcgccggcctccgcgctgccgcgcccgcctcgcctttccggcagctcctgcagccggcaccccggctgtgcacccggcccttcgggctgctcagcgtgcgcgcaggttccgagcggcggccgggcctcctgcggcctcgcggaccctgcgcctgtggctgtggctgcggctcgctgcacaccgacggagacaaagcttttgttgatttcctgagtgatgaaattaaggaggaaagaaaaattcagaagcataaaaccctccctaagatgtctggaggttgggagctggaactgaatgggacagaagcgaaattagtgcggaaagttgccggggaaaaaatcacggtcactttcaacattaacaacagcatcccaccaacatttgatggtgaggaggaaccctcgcaagggcagaaggttgaagaacaggagcctgaactgacatcaactcccaatttcgtggttgaagttataaagaatgatgatggcaagaaggcccttgtgttggactgtcattatccagaggatgaggttggacaagaagacgaggctgagagtgacatcttctctatcagggaagttagctttcagtccactggcgagtctgaatggaaggatactaattatacactcaacacagattccttggactgggccttatatgaccacctaatggatttccttgccgaccgaggggtggacaacacttttgcagatgagctggtggagctcagcacagccctggagcaccaggagtacattacttttcttgaagacctcaagagttttgtcaagagccagtagagcagacagatgctgaaagccatagtttcatggcaggctttggccagtgaacaaatcctactctgaagctagacatgtgctttgaaatgattatcatcctaatatcatgggggaaaaaataccaaatttaaattatatgttttgtgttctcatttattatcatttttttctgtacaaatctattatttctagatttttgtataacatgatagacataaaattggtttatctcctcc
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:708 -> Molecular function: GO:0001849 [complement component C1q binding] evidence: IDA
GeneID:708 -> Molecular function: GO:0003714 [transcription corepressor activity] evidence: IDA
GeneID:708 -> Molecular function: GO:0003729 [mRNA binding] evidence: ISS
GeneID:708 -> Molecular function: GO:0005080 [protein kinase C binding] evidence: IEA
GeneID:708 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:708 -> Molecular function: GO:0005540 [hyaluronic acid binding] evidence: IDA
GeneID:708 -> Molecular function: GO:0008134 [transcription factor binding] evidence: IDA
GeneID:708 -> Molecular function: GO:0030984 [kininogen binding] evidence: IDA
GeneID:708 -> Molecular function: GO:0031690 [adrenergic receptor binding] evidence: ISS
GeneID:708 -> Molecular function: GO:0097177 [mitochondrial ribosome binding] evidence: ISS
GeneID:708 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IDA
GeneID:708 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:708 -> Biological process: GO:0006397 [mRNA processing] evidence: IEA
GeneID:708 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:708 -> Biological process: GO:0006955 [immune response] evidence: TAS
GeneID:708 -> Biological process: GO:0006958 [complement activation, classical pathway] evidence: IEA
GeneID:708 -> Biological process: GO:0007596 [blood coagulation] evidence: TAS
GeneID:708 -> Biological process: GO:0007597 [blood coagulation, intrinsic pathway] evidence: TAS
GeneID:708 -> Biological process: GO:0008380 [RNA splicing] evidence: IEA
GeneID:708 -> Biological process: GO:0014065 [phosphatidylinositol 3-kinase cascade] evidence: IMP
GeneID:708 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:708 -> Biological process: GO:0030449 [regulation of complement activation] evidence: IDA
GeneID:708 -> Biological process: GO:0032689 [negative regulation of interferon-gamma production] evidence: IDA
GeneID:708 -> Biological process: GO:0032695 [negative regulation of interleukin-12 production] evidence: IDA
GeneID:708 -> Biological process: GO:0039534 [negative regulation of MDA-5 signaling pathway] evidence: IDA
GeneID:708 -> Biological process: GO:0039536 [negative regulation of RIG-I signaling pathway] evidence: IDA
GeneID:708 -> Biological process: GO:0042256 [mature ribosome assembly] evidence: IMP
GeneID:708 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IMP
GeneID:708 -> Biological process: GO:0045087 [innate immune response] evidence: IEA
GeneID:708 -> Biological process: GO:0045785 [positive regulation of cell adhesion] evidence: IMP
GeneID:708 -> Biological process: GO:0048025 [negative regulation of mRNA splicing, via spliceosome] evidence: IDA
GeneID:708 -> Biological process: GO:0050687 [negative regulation of defense response to virus] evidence: IMP
GeneID:708 -> Biological process: GO:0051897 [positive regulation of protein kinase B signaling cascade] evidence: IMP
GeneID:708 -> Biological process: GO:0070131 [positive regulation of mitochondrial translation] evidence: ISS
GeneID:708 -> Biological process: GO:0090023 [positive regulation of neutrophil chemotaxis] evidence: IDA
GeneID:708 -> Biological process: GO:1900026 [positive regulation of substrate adhesion-dependent cell spreading] evidence: IMP
GeneID:708 -> Biological process: GO:1901165 [positive regulation of trophoblast cell migration] evidence: IMP
GeneID:708 -> Biological process: GO:2000510 [positive regulation of dendritic cell chemotaxis] evidence: IMP
GeneID:708 -> Cellular component: GO:0005615 [extracellular space] evidence: IEA
GeneID:708 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:708 -> Cellular component: GO:0005730 [nucleolus] evidence: IEA
GeneID:708 -> Cellular component: GO:0005737 [cytoplasm] evidence: ISS
GeneID:708 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA
GeneID:708 -> Cellular component: GO:0005759 [mitochondrial matrix] evidence: IEA
GeneID:708 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
GeneID:708 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:708 -> Cellular component: GO:0009986 [cell surface] evidence: IDA
GeneID:708 -> Cellular component: GO:0016020 [membrane] evidence: IDA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.