LOCUS NM_002620 743 bp mRNA linear PRI 04-APR-2024
DEFINITION Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA.
ACCESSION NM_002620
VERSION NM_002620.4
KEYWORDS RefSeq; MANE Select.
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 743)
AUTHORS Brandhofer,M., Hoffmann,A., Blanchet,X., Siminkovitch,E.,
Rohlfing,A.K., El Bounkari,O., Nestele,J.A., Bild,A., Kontos,C.,
Hille,K., Rohde,V., Frohlich,A., Golemi,J., Gokce,O., Krammer,C.,
Scheiermann,P., Tsilimparis,N., Sachs,N., Kempf,W.E.,
Maegdefessel,L., Otabil,M.K., Megens,R.T.A., Ippel,H., Koenen,R.R.,
Luo,J., Engelmann,B., Mayo,K.H., Gawaz,M., Kapurniotu,A., Weber,C.,
von Hundelshausen,P. and Bernhagen,J.
TITLE Heterocomplexes between the atypical chemokine MIF and the
CXC-motif chemokine CXCL4L1 regulate inflammation and thrombus
formation
JOURNAL Cell Mol Life Sci 79 (10), 512 (2022)
PUBMED 36094626
REMARK GeneRIF: Heterocomplexes between the atypical chemokine MIF and the
CXC-motif chemokine CXCL4L1 regulate inflammation and thrombus
formation.
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 743)
AUTHORS Kaczor,D.M., Kramann,R., Hackeng,T.M., Schurgers,L.J. and
Koenen,R.R.
TITLE Differential Effects of Platelet Factor 4 (CXCL4) and Its
Non-Allelic Variant (CXCL4L1) on Cultured Human Vascular Smooth
Muscle Cells
JOURNAL Int J Mol Sci 23 (2), 580 (2022)
PUBMED 35054772
REMARK GeneRIF: Differential Effects of Platelet Factor 4 (CXCL4) and Its
Non-Allelic Variant (CXCL4L1) on Cultured Human Vascular Smooth
Muscle Cells.
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 743)
AUTHORS Armbrust,T., Millis,M.P., Alvarez,M.L., Saremi,A., DiStefano,J.K.
and Nourbakhsh,M.
TITLE CXCL4L1 Promoter Polymorphisms Are Associated with Improved Renal
Function in Type 1 Diabetes
JOURNAL J Immunol 202 (3), 912-919 (2019)
PUBMED 30593538
REMARK GeneRIF: CXCL4L1 promoter variants may protect against the
development of renal inflammation in diabetes by increasing CXCL4L1
expression, which in turn activates the anti-inflammatory SMAD7 and
IkappaBalpha factors in mesangial cells.
REFERENCE 4 (bases 1 to 743)
AUTHORS Ruytinx,P., Proost,P. and Struyf,S.
TITLE CXCL4 and CXCL4L1 in cancer
JOURNAL Cytokine 109, 65-71 (2018)
PUBMED 29903575
REMARK GeneRIF: CXCL4 and CXCL4L1 shift the angiogenic/angiostatic balance
in favor of angiostasis. CXCL4L1 in particular was found to be a
more potent angiostatic, anti-tumoral and anti-metastatic
chemokine, which was verified in different in vivo models.
Review article
REFERENCE 5 (bases 1 to 743)
AUTHORS von Hundelshausen,P., Agten,S.M., Eckardt,V., Blanchet,X.,
Schmitt,M.M., Ippel,H., Neideck,C., Bidzhekov,K., Leberzammer,J.,
Wichapong,K., Faussner,A., Drechsler,M., Grommes,J., van
Geffen,J.P., Li,H., Ortega-Gomez,A., Megens,R.T., Naumann,R.,
Dijkgraaf,I., Nicolaes,G.A., Doring,Y., Soehnlein,O., Lutgens,E.,
Heemskerk,J.W., Koenen,R.R., Mayo,K.H., Hackeng,T.M. and Weber,C.
TITLE Chemokine interactome mapping enables tailored intervention in
acute and chronic inflammation
JOURNAL Sci Transl Med 9 (384) (2017)
PUBMED 28381538
REFERENCE 6 (bases 1 to 743)
AUTHORS Hillian,A.D., Londono,D., Dunn,J.M., Goddard,K.A., Pace,R.G.,
Knowles,M.R. and Drumm,M.L.
CONSRTM CF Gene Modifier Study Group
TITLE Modulation of cystic fibrosis lung disease by variants in
interleukin-8
JOURNAL Genes Immun 9 (6), 501-508 (2008)
PUBMED 18563170
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 7 (bases 1 to 743)
AUTHORS Struyf,S., Burdick,M.D., Proost,P., Van Damme,J. and Strieter,R.M.
TITLE Platelets release CXCL4L1, a nonallelic variant of the chemokine
platelet factor-4/CXCL4 and potent inhibitor of angiogenesis
JOURNAL Circ Res 95 (9), 855-857 (2004)
PUBMED 15459074
REFERENCE 8 (bases 1 to 743)
AUTHORS Gevaert,K., Goethals,M., Martens,L., Van Damme,J., Staes,A.,
Thomas,G.R. and Vandekerckhove,J.
TITLE Exploring proteomes and analyzing protein processing by mass
spectrometric identification of sorted N-terminal peptides
JOURNAL Nat Biotechnol 21 (5), 566-569 (2003)
PUBMED 12665801
REFERENCE 9 (bases 1 to 743)
AUTHORS Eisman,R., Surrey,S., Ramachandran,B., Schwartz,E. and Poncz,M.
TITLE Structural and functional comparison of the genes for human
platelet factor 4 and PF4alt
JOURNAL Blood 76 (2), 336-344 (1990)
PUBMED 1695112
REFERENCE 10 (bases 1 to 743)
AUTHORS Green,C.J., Charles,R.S., Edwards,B.F. and Johnson,P.H.
TITLE Identification and characterization of PF4varl, a human gene
variant of platelet factor 4
JOURNAL Mol Cell Biol 9 (4), 1445-1451 (1989)
PUBMED 2725510
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC092438.5 and BC130653.1.
On Nov 22, 2018 this sequence version replaced NM_002620.3.
Summary: The protein encoded by this gene is a chemokine that is
highly similar to platelet factor 4. The encoded protein displays a
strong antiangiogenic function and is regulated by chemokine (C-X-C
motif) receptor 3. This protein also impairs tumor growth and can
protect against blood-retinal barrier breakdown in diabetes
patients. [provided by RefSeq, Nov 2015].
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.
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 :: SRR5189655.25447.1, ERR279829.555.1
[ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA2144333, SAMEA2144335
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000226524.4/ ENSP00000226524.3
RefSeq Select criteria :: based on single protein-coding transcript
##RefSeq-Attributes-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-39 AC092438.5 4928-4966
40-411 BC130653.1 1-372
412-743 AC092438.5 5784-6115
FEATURES Location/Qualifiers
source 1..743
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q13.3"
gene 1..743
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/note="platelet factor 4 variant 1"
/db_xref="GeneID:5197"
/db_xref="HGNC:HGNC:8862"
/db_xref="MIM:173461"
exon 1..167
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/inference="alignment:Splign:2.1.0"
CDS 68..382
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/note="platelet factor 4, variant 1 (PF4-like); PF4alt;
PF4var1; C-X-C motif chemokine 4"
/codon_start=1
/product="platelet factor 4 variant precursor"
/protein_id="NP_002611.1"
/db_xref="CCDS:CCDS3561.1"
/db_xref="GeneID:5197"
/db_xref="HGNC:HGNC:8862"
/db_xref="MIM:173461"
/translation="MSSAARSRLTRATRQEMLFLALLLLPVVVAFARAEAEEDGDLQC
LCVKTTSQVRPRHITSLEVIKAGPHCPTAQLIATLKNGRKICLDLQALLYKKIIKEHL
ES"
sig_peptide 68..157
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/note="/evidence=ECO:0000269|PubMed:15459074; propagated
from UniProtKB/Swiss-Prot (P10720.1)"
mat_peptide 158..379
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/product="Platelet factor 4 variant. /id=PRO_0000005071"
/note="propagated from UniProtKB/Swiss-Prot (P10720.1)"
mat_peptide 167..379
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/product="Platelet factor 4 variant(4-74).
/id=PRO_0000005072"
/note="propagated from UniProtKB/Swiss-Prot (P10720.1)"
mat_peptide 170..379
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/product="Platelet factor 4 variant(5-74).
/id=PRO_0000005073"
/note="propagated from UniProtKB/Swiss-Prot (P10720.1)"
mat_peptide 173..379
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/product="Platelet factor 4 variant(6-74).
/id=PRO_0000005074"
/note="propagated from UniProtKB/Swiss-Prot (P10720.1)"
exon 168..294
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/inference="alignment:Splign:2.1.0"
exon 295..743
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/inference="alignment:Splign:2.1.0"
regulatory 470..475
/regulatory_class="polyA_signal_sequence"
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/note="hexamer: AATAAA"
polyA_site 495
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
regulatory 716..721
/regulatory_class="polyA_signal_sequence"
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/note="hexamer: AATAAA"
polyA_site 743
/gene="PF4V1"
/gene_synonym="CXCL4L1; CXCL4V1; PF4-ALT; PF4A; SCYB4V1"
/note="major polyA site"
ORIGIN
1 actgcctgca gaaccccagc ccgactttcc ctgcgcactg ggatcctgct ggaacctcag
61 ctgcaacatg agctccgcag ccaggtcccg cctcacccgc gccacccgcc aggagatgct
121 gttcttggcg ttgctgctcc tgccagttgt ggtcgccttc gccagagctg aagctgaaga
181 agatggggac ctgcagtgcc tgtgtgtgaa gaccacctcc caggtccgtc ccaggcacat
241 caccagcctg gaggtgatca aggccggacc ccactgcccc actgcccaac tcatagccac
301 gctgaagaat gggaggaaaa tttgcttgga tctgcaagcc ctgctgtaca agaaaatcat
361 taaggaacat ttggagagtt agctactagc tgcctaagtg tgcactttca atctaactgt
421 gaaagaatct tctgatgttt gtattatcct tcttatatta tattaacgaa ataaatcaag
481 ttgtggtata gtcaatctat ttcttaataa tactgcaaaa ataatgctga cacatcacaa
541 tttcatattt taaaatttcc agaattttaa gcaaaaagca ttatgaagga aggcttggtt
601 taataaagac tgattttgtt cagtgttata tgttagctga tacatatttg ttcatttatg
661 tgattgcagt actttatagc tacatattta ccttgaatgt tacaattagc ttgccaataa
721 atattagtag ctcttaagca tta
//