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2024-04-18 15:59:40, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001845 6549 bp mRNA linear PRI 24-JUN-2013
DEFINITION Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.
ACCESSION NM_001845
VERSION NM_001845.4 GI:148536824
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 6549)
AUTHORS Rodahl,E., Knappskog,P.M., Majewski,J., Johansson,S., Telstad,W.,
Krakenes,J. and Boman,H.
TITLE Variants of anterior segment dysgenesis and cerebral involvement in
a large family with a novel COL4A1 mutation
JOURNAL Am. J. Ophthalmol. 155 (5), 946-953 (2013)
PUBMED 23394911
REMARK GeneRIF: In families where anterior segment dysgenesis occurs
together with cerebral hemorrhages, genetic analysis of COL4A1
should be considered.
REFERENCE 2 (bases 1 to 6549)
AUTHORS Lemmens,R., Maugeri,A., Niessen,H.W., Goris,A., Tousseyn,T.,
Demaerel,P., Corveleyn,A., Robberecht,W., van der Knaap,M.S.,
Thijs,V.N. and Zwijnenburg,P.J.
TITLE Novel COL4A1 mutations cause cerebral small vessel disease by
haploinsufficiency
JOURNAL Hum. Mol. Genet. 22 (2), 391-397 (2013)
PUBMED 23065703
REMARK GeneRIF: Novel COL4A1 mutations cause cerebral small vessel disease
by haploinsufficiency
REFERENCE 3 (bases 1 to 6549)
AUTHORS Yoneda,Y., Haginoya,K., Kato,M., Osaka,H., Yokochi,K., Arai,H.,
Kakita,A., Yamamoto,T., Otsuki,Y., Shimizu,S., Wada,T., Koyama,N.,
Mino,Y., Kondo,N., Takahashi,S., Hirabayashi,S., Takanashi,J.,
Okumura,A., Kumagai,T., Hirai,S., Nabetani,M., Saitoh,S.,
Hattori,A., Yamasaki,M., Kumakura,A., Sugo,Y., Nishiyama,K.,
Miyatake,S., Tsurusaki,Y., Doi,H., Miyake,N., Matsumoto,N. and
Saitsu,H.
TITLE Phenotypic spectrum of COL4A1 mutations: porencephaly to
schizencephaly
JOURNAL Ann. Neurol. 73 (1), 48-57 (2013)
PUBMED 23225343
REMARK GeneRIF: COL4A1 mutations are associated with schizencephaly and
hemolytic anemia; genetic testing for COL4A1 should be considered
for children with these conditions.
REFERENCE 4 (bases 1 to 6549)
AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
Gibbs,R.A. and Butte,N.F.
TITLE Novel genetic loci identified for the pathophysiology of childhood
obesity in the Hispanic population
JOURNAL PLoS ONE 7 (12), E51954 (2012)
PUBMED 23251661
REFERENCE 5 (bases 1 to 6549)
AUTHORS Aikio,M., Alahuhta,I., Nurmenniemi,S., Suojanen,J., Palovuori,R.,
Teppo,S., Sorsa,T., Lopez-Otin,C., Pihlajaniemi,T., Salo,T.,
Heljasvaara,R. and Nyberg,P.
TITLE Arresten, a collagen-derived angiogenesis inhibitor, suppresses
invasion of squamous cell carcinoma
JOURNAL PLoS ONE 7 (12), E51044 (2012)
PUBMED 23227231
REMARK GeneRIF: These data suggest novel roles for arresten in the
regulation of oral squamous carcinoma cell proliferation, survival,
motility and invasion through the modulation of cell
differentiation state and integrin signaling.
REFERENCE 6 (bases 1 to 6549)
AUTHORS Ghebrehiwet,B., Peerschke,E.I., Hong,Y., Munoz,P. and Gorevic,P.D.
TITLE Short amino acid sequences derived from C1q receptor (C1q-R) show
homology with the alpha chains of fibronectin and vitronectin
receptors and collagen type IV
JOURNAL J. Leukoc. Biol. 51 (6), 546-556 (1992)
PUBMED 1377218
REFERENCE 7 (bases 1 to 6549)
AUTHORS Gupta,S., Batchu,R.B. and Datta,K.
TITLE Purification, partial characterization of rat kidney hyaluronic
acid binding protein and its localization on the cell surface
JOURNAL Eur. J. Cell Biol. 56 (1), 58-67 (1991)
PUBMED 1724753
REFERENCE 8 (bases 1 to 6549)
AUTHORS Paralkar,V.M., Nandedkar,A.K., Pointer,R.H., Kleinman,H.K. and
Reddi,A.H.
TITLE Interaction of osteogenin, a heparin binding bone morphogenetic
protein, with type IV collagen
JOURNAL J. Biol. Chem. 265 (28), 17281-17284 (1990)
PUBMED 2211625
REFERENCE 9 (bases 1 to 6549)
AUTHORS Tryggvason,K., Soininen,R., Hostikka,S.L., Ganguly,A., Huotari,M.
and Prockop,D.J.
TITLE Structure of the human type IV collagen genes
JOURNAL Ann. N. Y. Acad. Sci. 580, 97-111 (1990)
PUBMED 2186699
REMARK Review article
REFERENCE 10 (bases 1 to 6549)
AUTHORS Hernandez,M.R., Igoe,F. and Neufeld,A.H.
TITLE Extracellular matrix of the human optic nerve head
JOURNAL Am. J. Ophthalmol. 102 (2), 139-148 (1986)
PUBMED 2426947
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from CN256264.1, CD613007.1,
Y00706.1, AL390755.5, BC047305.1, X03963.1 and BU677787.1.
This sequence is a reference standard in the RefSeqGene project.
On Jun 1, 2007 this sequence version replaced gi:45580690.
Summary: This gene encodes the major type IV alpha collagen chain
of basement membranes. Like the other members of the type IV
collagen gene family, this gene is organized in a head-to-head
conformation with another type IV collagen gene so that each gene
pair shares a common promoter. [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 :: BC151220.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025087 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-513 CN256264.1 2-514
514-810 CD613007.1 169-465
811-1784 Y00706.1 554-1527
1785-1785 AL390755.5 137368-137368 c
1786-2807 Y00706.1 1529-2550
2808-4123 BC047305.1 905-2220
4124-4124 AL390755.5 116416-116416 c
4125-5392 BC047305.1 2222-3489
5393-6429 X03963.1 264-1300
6430-6549 BU677787.1 1-120 c
FEATURES Location/Qualifiers
source 1..6549
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="13"
/map="13q34"
gene 1..6549
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/note="collagen, type IV, alpha 1"
/db_xref="GeneID:1282"
/db_xref="HGNC:2202"
/db_xref="MIM:120130"
exon 1..206
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
misc_feature 60..62
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/note="upstream in-frame stop codon"
CDS 123..5132
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/note="collagen of basement membrane, alpha-1 chain;
collagen IV, alpha-1 polypeptide; collagen alpha-1(IV)
chain; COL4A1 NC1 domain"
/codon_start=1
/product="collagen alpha-1(IV) chain preproprotein"
/protein_id="NP_001836.2"
/db_xref="GI:148536825"
/db_xref="CCDS:CCDS9511.1"
/db_xref="GeneID:1282"
/db_xref="HGNC:2202"
/db_xref="MIM:120130"
/translation="
MGPRLSVWLLLLPAALLLHEEHSRAAAKGGCAGSGCGKCDCHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGSPGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPGPPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPGPQGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEFYFDLRLKGDKGDPGFPGQPGMTGRAGSPGRDGHPGLPGPKGSPGSVGLKGERGPPGGVGFPGSRGDTGPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFPGPQGDRGFPGTPGRPGLPGEKGAVGQPGIGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNGLPGNPGVQGQKGEPGVGLPGLKGLPGLPGIPGTPGEKGSIGVPGVPGEHGAIGPPGLQGIRGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPGPKGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPGLPGEKGDHGFPGSSGPRGDPGLKGDKGDVGLPGKPGSMDKVDMGSMKGQKGDQGEKGQIGPIGEKGSRGDPGTPGVPGKDGQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPGTPGEKGVPGIPGPQGSPGLPGDKGAKGEKGQAGPPGIGIPGLRGEKGDQGIAGFPGSPGEKGEKGSIGIPGMPGSPGLKGSPGSVGYPGSPGLPGEKGDKGLPGLDGIPGVKGEAGLPGTPGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSPGIPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPGIDGVKGDKGNPGWPGAPGVPGPKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGPKGLPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPKGQQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTPSVDHGFLVTRHSQTIDDPQCPSGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTMPFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAVHSQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRGTCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMRRT
"
sig_peptide 123..203
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
proprotein 204..5129
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/product="collagen alpha-1(IV) chain proprotein"
mat_peptide 639..5129
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/product="collagen alpha-1(IV) chain"
misc_feature 639..4442
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P02462.3);
Region: Triple-helical region"
misc_feature 2754..2927
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/note="Collagen triple helix repeat (20 copies); Region:
Collagen; pfam01391"
/db_xref="CDD:189968"
misc_feature 3117..3272
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/note="Collagen triple helix repeat (20 copies); Region:
Collagen; pfam01391"
/db_xref="CDD:189968"
misc_feature 3915..3917
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
misc_feature 4455..4784
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/note="C-terminal tandem repeated domain in type 4
procollagen; Region: C4; pfam01413"
/db_xref="CDD:144854"
misc_feature order(4500..4502,4773..4775)
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(4599..4601,4764..4766)
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(4635..4637,4653..4655)
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature 4785..5126
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/note="C-terminal tandem repeated domain in type 4
procollagens; Region: C4; smart00111"
/db_xref="CDD:128421"
misc_feature order(4830..4832,5115..5117)
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(4932..4934,5106..5108)
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
misc_feature order(4968..4970,4986..4988)
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/experiment="experimental evidence, no additional details
recorded"
/note="disulfide bridge bond"
exon 207..266
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 267..356
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 357..401
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 402..446
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 447..509
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 510..563
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 564..590
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 591..674
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 675..737
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 738..773
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 774..815
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 816..902
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 903..929
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 930..980
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 981..1025
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 1026..1079
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 1080..1121
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 1122..1206
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 1207..1242
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 1243..1407
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
variation 1291
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/replace="a"
/replace="g"
/db_xref="dbSNP:8229"
STS 1330..1757
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/standard_name="Col4a1"
/db_xref="UniSTS:496710"
variation 1379
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:995224"
exon 1408..1503
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 1504..1587
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 1588..1658
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 1659..1850
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
variation 1785
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/replace="a"
/replace="c"
/db_xref="dbSNP:536174"
exon 1851..2019
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 2020..2112
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 2113..2217
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 2218..2315
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 2316..2466
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 2467..2580
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 2581..2748
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 2749..2838
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 2839..2991
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 2992..3090
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 3091..3180
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 3181..3320
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 3321..3447
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
variation 3410
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2305082"
exon 3448..3528
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 3529..3627
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 3628..3678
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 3679..3864
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 3865..3998
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 3999..4071
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 4072..4143
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
variation 4124
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/replace="a"
/replace="c"
/db_xref="dbSNP:3742207"
exon 4144..4272
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 4273..4371
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 4372..4584
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 4585..4762
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
variation 4592
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1133219"
exon 4763..4877
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 4878..5050
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
exon 5051..6532
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/inference="alignment:Splign:1.39.8"
STS 5182..5282
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/standard_name="D13S1449"
/db_xref="UniSTS:82630"
STS 5222..5357
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/standard_name="D12S2121"
/db_xref="UniSTS:71885"
polyA_signal 5368..5373
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
polyA_site 5392
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
STS 5589..5709
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/standard_name="D13S1440"
/db_xref="UniSTS:22043"
STS 5627..6355
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/standard_name="COL4A1__1176"
/db_xref="UniSTS:277116"
polyA_signal 5733..5738
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/note="polyadenylation signal"
variation 5736
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11545876"
polyA_site 5753
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
polyA_signal 5843..5848
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/note="polyadenylation signal"
polyA_site 5874
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
variation 6107
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/replace="a"
/replace="c"
/db_xref="dbSNP:28362515"
variation 6264
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/replace="a"
/replace="g"
/db_xref="dbSNP:7273"
STS 6348..6473
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/standard_name="A005V07"
/db_xref="UniSTS:57514"
STS 6348..6473
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/standard_name="G32294"
/db_xref="UniSTS:116890"
polyA_signal 6413..6418
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
/note="polyadenylation signal"
polyA_site 6434
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
polyA_signal 6476..6481
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
polyA_signal 6505..6510
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
polyA_site 6527
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
polyA_site 6532
/gene="COL4A1"
/gene_synonym="arresten; HANAC; ICH; POREN1"
ORIGIN
gcttggagccgccgcacccgggacggtgcgtagcgctggaagtccggccttccgagagctagctgtccgccgcggcccccgcacgccgggcagccgtccctcgccgcctcgggcgcgccaccatggggccccggctcagcgtctggctgctgctgctgcccgccgcccttctgctccacgaggagcacagccgggccgctgcgaagggtggctgtgctggctctggctgtggcaaatgtgactgccatggagtgaagggacaaaagggtgaaagaggcctcccggggttacaaggtgtcattgggtttcctggaatgcaaggacctgaggggccacagggaccaccaggacaaaagggtgatactggagaaccaggactacctggaacaaaagggacaagaggacctccgggagcatctggctaccctggaaacccaggacttcccggaattcctggccaagacggcccgccaggccccccaggtattccaggatgcaatggcacaaagggggagagagggccgctcgggcctcctggcttgcctggtttcgctggaaatcccggaccaccaggcttaccagggatgaagggtgatccaggtgagatacttggccatgtgcccgggatgctgttgaaaggtgaaagaggatttcccggaatcccagggactccaggcccaccaggactgccagggcttcaaggtcctgttgggcctccaggatttaccggaccaccaggtcccccaggccctcccggccctccaggtgaaaagggacaaatgggcttaagttttcaaggaccaaaaggtgacaagggtgaccaaggggtcagtgggcctccaggagtaccaggacaagctcaagttcaagaaaaaggagacttcgccaccaagggagaaaagggccaaaaaggtgaacctggatttcaggggatgccaggggtcggagagaaaggtgaacccggaaaaccaggacccagaggcaaacccggaaaagatggtgacaaaggggaaaaagggagtcccggttttcctggtgaacccgggtacccaggactcataggccgccagggcccgcagggagaaaagggtgaagcaggtcctcctggcccacctggaattgttataggcacaggacctttgggagaaaaaggagagaggggctaccctggaactccggggccaagaggagagccaggcccaaaaggtttcccaggactaccaggccaacccggacctccaggcctccctgtacctgggcaggctggtgcccctggcttccctggtgaaagaggagaaaaaggtgaccgaggatttcctggtacatctctgccaggaccaagtggaagagatgggctcccgggtcctcctggttcccctgggccccctgggcagcctggctacacaaatggaattgtggaatgtcagcccggacctccaggtgaccagggtcctcctggaattccagggcagccaggatttataggcgaaattggagagaaaggtcaaaaaggagagagttgcctcatctgtgatatagacggatatcgggggcctcccgggccacagggacccccgggagaaataggtttcccagggcagccaggggccaagggcgacagaggtttgcctggcagagatggtgttgcaggagtgccaggccctcaaggtacaccagggctgataggccagccaggagccaagggggagcctggtgagttttatttcgacttgcggctcaaaggtgacaaaggagacccaggctttccaggacagcccggcatgacagggagagcgggttctcctggaagagatggccatccgggtcttcctggccccaagggctcgccgggttctgtaggattgaaaggagagcgtggcccccctggaggagttggattcccaggcagtcgtggtgacaccggcccccctgggcctccaggatatggtcctgctggtcccattggtgacaaaggacaagcaggctttcctggaggccctggatccccaggcctgccaggtccaaagggtgaaccaggaaaaattgttcctttaccaggcccccctggagcagaaggactgccggggtccccaggcttcccaggtccccaaggagaccgaggctttcccggaaccccaggaaggccaggcctgccaggagagaagggcgctgtgggccagccaggcattggatttccagggccccccggccccaaaggtgttgacggcttacctggagacatggggccaccggggactccaggtcgcccgggatttaatggcttacctgggaacccaggtgtgcagggccagaagggagagcctggagttggtctaccgggactcaaaggtttgccaggtcttcccggcattcctggcacacccggggagaaggggagcattggggtaccaggcgttcctggagaacatggagcgatcggaccccctgggcttcaggggatcagaggtgaaccgggacctcctggattgccaggctccgtggggtctccaggagttccaggaataggcccccctggagctaggggtccccctggaggacagggaccaccggggttgtcaggccctcctggaataaaaggagagaagggtttccccggattccctggactggacatgccgggccctaaaggagataaaggggctcaaggactccctggcataacgggacagtcggggctccctggccttcctggacagcagggggctcctgggattcctgggtttccaggttccaagggagaaatgggcgtcatggggacccccgggcagccgggctcaccaggaccagtgggtgctcctggattaccgggtgaaaaaggggaccatggctttccgggctcctcaggacccaggggagaccctggcttgaaaggtgataagggggatgtcggtctccctggcaagcctggctccatggataaggtggacatgggcagcatgaagggccagaaaggagaccaaggagagaaaggacaaattggaccaattggtgagaagggatcccgaggagaccctgggaccccaggagtgcctggaaaggacgggcaggcaggacagcctgggcagccaggacctaaaggtgatccaggtataagtggaaccccaggtgctccaggacttccgggaccaaaaggatctgttggtggaatgggcttgccaggaacacctggagagaaaggtgtgcctggcatccctggcccacaaggttcacctggcttacctggagacaaaggtgcaaaaggagagaaagggcaggcaggcccacctggcataggcatcccagggctgcgaggtgaaaagggagatcaagggatagcgggtttcccaggaagccctggagagaagggagaaaaaggaagcattgggatcccaggaatgccagggtccccaggccttaaagggtctcccgggagtgttggctatccaggaagtcctgggctacctggagaaaaaggtgacaaaggcctcccaggattggatggcatccctggtgtcaaaggagaagcaggtcttcctgggactcctggccccacaggcccagctggccagaaaggggagccaggcagtgatggaatcccggggtcagcaggagagaagggtgaaccaggtctaccaggaagaggattcccagggtttccaggggccaaaggagacaaaggttcaaagggtgaggtgggtttcccaggattagccgggagcccaggaattcctggatccaaaggagagcaaggattcatgggtcctccggggccccagggacagccggggttaccgggatccccaggccatgccacggaggggcccaaaggagaccgcggacctcagggccagcctggcctgccaggacttccgggacccatggggcctccagggcttcctgggattgatggagttaaaggtgacaaaggaaatccaggctggccaggagcacccggtgtcccagggcccaagggagaccctggattccagggcatgcctggtattggtggctctccaggaatcacaggctctaagggtgatatggggcctccaggagttccaggatttcaaggtccaaaaggtcttcctggcctccagggaattaaaggtgatcaaggcgatcaaggcgtcccgggagctaaaggtctcccgggtcctcctggccccccaggtccttacgacatcatcaaaggggagcccgggctccctggtcctgagggccccccagggctgaaagggcttcagggactgccaggcccgaaaggccagcaaggtgttacaggattggtgggtatacctggacctccaggtattcctgggtttgacggtgcccctggccagaaaggagagatgggacctgccgggcctactggtccaagaggatttccaggtccaccaggccccgatgggttgccaggatccatggggcccccaggcaccccatctgttgatcacggcttccttgtgaccaggcatagtcaaacaatagatgacccacagtgtccttctgggaccaaaattctttaccacgggtactctttgctctacgtgcaaggcaatgaacgggcccatggccaggacttgggcacggccggcagctgcctgcgcaagttcagcacaatgcccttcctgttctgcaatattaacaacgtgtgcaactttgcatcacgaaatgactactcgtactggctgtccacccctgagcccatgcccatgtcaatggcacccatcacgggggaaaacataagaccatttattagtaggtgtgctgtgtgtgaggcgcctgccatggtgatggccgtgcacagccagaccattcagatcccaccgtgccccagcgggtggtcctcgctgtggatcggctactcttttgtgatgcacaccagcgctggtgcagaaggctctggccaagccctggcgtcccccggctcctgcctggaggagtttagaagtgcgccattcatcgagtgtcacggccgtgggacctgcaattactacgcaaacgcttacagcttttggctcgccaccatagagaggagcgagatgttcaagaagcctacgccgtccaccttgaaggcaggggagctgcgcacgcacgtcagccgctgccaagtctgtatgagaagaacataatgaagcctgactcagctaatgtcacaacatggtgctacttcttcttctttttgttaacagcaacgaaccctagaaatatatcctgtgtacctcactgtccaatatgaaaaccgtaaagtgccttataggaatttgcgtaactaacacaccctgcttcattgacctctacttgctgaaggagaaaaagacagcgataagctttcaatagtggcataccaaatggcacttttgatgaaataaaatatcaatattttctgcaatccaatgcactgatgtgtgaagtgagaactccatcagaaaaccaaagggtgctaggaggtgtgggtgccttccatactgtttgcccattttcattcttgtattataattaattttctacccccagagataaatgtttgtttatatcactgtctagctgtttcaaaatttaggtcccttggtctgtacaaataatagcaatgtaaaaatggttttttgaacctccaaatggaattacagactcagtagccatatcttccaaccccccagtataaatttctgtctttctgctatgtgtggtactttgcagctgcttttgcagaaatcacaattttcctgtggaataaagatggtccaaaaatagtcaaaaattaaatatatatatatattagtaatttatatagatgtcagcaattaggcagatcaaggtttagtttaacttccactgttaaaataaagcttacatagttttcttcctttgaaagactgtgctgtcctttaacataggtttttaaagactaggatattgaatgtgaaacatccgttttcattgttcacttctaaaccaaaaattatgtgttgccaaaaccaaacccaggttcatgaatatggtgtctattatagtgaaacatgtactttgagcttattgtttttattctgtattaaatattttcagggttttaaacactaatcacaaactgaatgacttgacttcaaaagcaacaaccttaaaggccgtcatttcattagtattcctcattctgcatcctggcttgaaaaacagctctgttgaatcacagtatcagtattttcacacgtaagcacattcgggccatttccgtggtttctcatgagctgtgttcacagacctcagcagggcatcgcatggaccgcaggagggcagattcggaccactaggcctgaaatgacatttcactaaaagtctccaaaacatttctaagactactaaggccttttatgtaatttctttaaatgtgtatttcttaagaattcaaatttgtaataaaactatttgtataaaaattaagcttttattaatttgttgctagtattgccacagacgcattaaaagaaacttactgcacaagctgctaataaatttgtaagctttgcataccttaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1282 -> Molecular function: GO:0005201 [extracellular matrix structural constituent] evidence: IEA
GeneID:1282 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:1282 -> Molecular function: GO:0048407 [platelet-derived growth factor binding] evidence: IDA
GeneID:1282 -> Biological process: GO:0001525 [angiogenesis] evidence: IEA
GeneID:1282 -> Biological process: GO:0007411 [axon guidance] evidence: TAS
GeneID:1282 -> Biological process: GO:0007528 [neuromuscular junction development] evidence: IEA
GeneID:1282 -> Biological process: GO:0022617 [extracellular matrix disassembly] evidence: TAS
GeneID:1282 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
GeneID:1282 -> Biological process: GO:0030574 [collagen catabolic process] evidence: TAS
GeneID:1282 -> Biological process: GO:0071230 [cellular response to amino acid stimulus] evidence: IEA
GeneID:1282 -> Cellular component: GO:0005576 [extracellular region] evidence: NAS
GeneID:1282 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
GeneID:1282 -> Cellular component: GO:0005587 [collagen type IV] evidence: IEA
GeneID:1282 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: TAS
GeneID:1282 -> Cellular component: GO:0031012 [extracellular matrix] evidence: ISS
by
@meso_cacase at
DBCLS
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