LOCUS       NM_020351               5515 bp    mRNA    linear   PRI 17-JUN-2024
DEFINITION  Homo sapiens collagen type VIII alpha 1 chain (COL8A1), transcript
            variant 2, mRNA.
ACCESSION   NM_020351
VERSION     NM_020351.4
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 5515)
  AUTHORS   Liu,M., Liang,W., Su,Y., Wen,Y., Qi,J., Wang,L., Su,S., Zhao,J.,
            Shan,J. and Wang,J.
  TITLE     COL8A1 is a potential prognostic biomarker associated with
            migration, proliferation, and tumor microenvironment in glioma
  JOURNAL   Exp Cell Res 439 (1), 114076 (2024)
   PUBMED   38719174
  REMARK    GeneRIF: COL8A1 is a potential prognostic biomarker associated with
            migration, proliferation, and tumor microenvironment in glioma.
REFERENCE   2  (bases 1 to 5515)
  AUTHORS   Hu,J., Li,P., Dan,Y., Chen,Z., Lu,Y., Chen,X. and Yan,S.
  TITLE     COL8A1 Regulates Esophageal Squamous Carcinoma Proliferation and
            Invasion Through PI3K/AKT Pathway
  JOURNAL   Ann Surg Oncol 31 (5), 3502-3512 (2024)
   PUBMED   38429534
  REMARK    GeneRIF: COL8A1 Regulates Esophageal Squamous Carcinoma
            Proliferation and Invasion Through PI3K/AKT Pathway.
REFERENCE   3  (bases 1 to 5515)
  AUTHORS   Ogreden,T.A. and Erdogan,G.
  TITLE     Two patients with Knobloch syndrome due to mutation in COL8A1 gene:
            case report and review of the literature
  JOURNAL   BMC Ophthalmol 24 (1), 149 (2024)
   PUBMED   38575892
  REMARK    GeneRIF: Two patients with Knobloch syndrome due to mutation in
            COL8A1 gene: case report and review of the literature.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5515)
  AUTHORS   Fan,S., Li,H. and Liu,K.
  TITLE     Molecular prognostic of nine parthanatos death-related genes in
            glioma, particularly in COL8A1 identification
  JOURNAL   J Neurochem 168 (3), 205-223 (2024)
   PUBMED   38225203
  REMARK    GeneRIF: Molecular prognostic of nine parthanatos death-related
            genes in glioma, particularly in COL8A1 identification.
REFERENCE   5  (bases 1 to 5515)
  AUTHORS   Sagara,A., Miura,S., Kobinata,A., Naganawa,R., Yaginuma,S.,
            Saito,S., Saito,R., Kominato,H., Yumoto,T. and Sato,F.
  TITLE     COL8A1 enhances the invasion/metastasis in MDA-MB-231 cells via the
            induction of IL1B and MMP1 expression
  JOURNAL   Biochem Biophys Res Commun 642, 145-153 (2023)
   PUBMED   36577251
  REMARK    GeneRIF: COL8A1 enhances the invasion/metastasis in MDA-MB-231
            cells via the induction of IL1B and MMP1 expression.
REFERENCE   6  (bases 1 to 5515)
  AUTHORS   Leung,E.W., Rife,L., Smith,R.E. and Kay,E.P.
  TITLE     Extracellular matrix components in retrocorneal fibrous membrane in
            comparison to corneal endothelium and Descemet's membrane
  JOURNAL   Mol Vis 6, 15-23 (2000)
   PUBMED   10731515
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 5515)
  AUTHORS   Hou,G., Mulholland,D., Gronska,M.A. and Bendeck,M.P.
  TITLE     Type VIII collagen stimulates smooth muscle cell migration and
            matrix metalloproteinase synthesis after arterial injury
  JOURNAL   Am J Pathol 156 (2), 467-476 (2000)
   PUBMED   10666376
REFERENCE   8  (bases 1 to 5515)
  AUTHORS   Illidge,C., Kielty,C. and Shuttleworth,A.
  TITLE     The alpha1(VIII) and alpha2(VIII) chains of type VIII collagen can
            form stable homotrimeric molecules
  JOURNAL   J Biol Chem 273 (34), 22091-22095 (1998)
   PUBMED   9705353
REFERENCE   9  (bases 1 to 5515)
  AUTHORS   Shuttleworth,C.A.
  TITLE     Type VIII collagen
  JOURNAL   Int J Biochem Cell Biol 29 (10), 1145-1148 (1997)
   PUBMED   9438378
  REMARK    Review article
REFERENCE   10 (bases 1 to 5515)
  AUTHORS   Muragaki,Y., Mattei,M.G., Yamaguchi,N., Olsen,B.R. and Ninomiya,Y.
  TITLE     The complete primary structure of the human alpha 1 (VIII) chain
            and assignment of its gene (COL8A1) to chromosome 3
  JOURNAL   Eur J Biochem 197 (3), 615-622 (1991)
   PUBMED   2029894
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC055723.22, AK311449.1,
            CN484310.1, BT009917.1, BG938623.1, DA663372.1 and AC069222.23.
            
            On Nov 22, 2018 this sequence version replaced NM_020351.3.
            
            Summary: This gene encodes one of the two alpha chains of type VIII
            collagen. The gene product is a short chain collagen and a major
            component of the basement membrane of the corneal endothelium. The
            type VIII collagen fibril can be either a homo- or a heterotrimer.
            Alternatively spliced transcript variants encoding the same protein
            have been observed. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (2) lacks an exon in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein.
            
            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 :: SRR1803613.185753.1,
                                           SRR1803616.181374.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000652472.1/ ENSP00000498483.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC055723.22        52632-52633
            3-16                AK311449.1         1-14
            17-595              CN484310.1         1-579
            596-2433            BT009917.1         397-2234
            2434-2751           BG938623.1         306-623
            2752-3031           DA663372.1         162-441
            3032-5515           AC069222.23        68613-71096         c
FEATURES             Location/Qualifiers
     source          1..5515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q12.1"
     gene            1..5515
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
                     /note="collagen type VIII alpha 1 chain"
                     /db_xref="GeneID:1295"
                     /db_xref="HGNC:HGNC:2215"
                     /db_xref="MIM:120251"
     exon            1..71
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
                     /inference="alignment:Splign:2.1.0"
     exon            72..196
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
                     /inference="alignment:Splign:2.1.0"
     exon            197..527
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
                     /inference="alignment:Splign:2.1.0"
     CDS             200..2434
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
                     /note="endothelial collagen; collagen VIII, alpha-1
                     polypeptide; collagen alpha-1(VIII) chain; smooth muscle
                     cell-expressed and macrophage conditioned medium-induced
                     protein smag-64; cell proliferation-inducing protein 41;
                     collagen, type VIII, alpha 1"
                     /codon_start=1
                     /product="collagen alpha-1(VIII) chain precursor"
                     /protein_id="NP_065084.2"
                     /db_xref="CCDS:CCDS2934.1"
                     /db_xref="GeneID:1295"
                     /db_xref="HGNC:HGNC:2215"
                     /db_xref="MIM:120251"
                     /translation="MAVLPGPLQLLGVLLTISLSSIRLIQAGAYYGIKPLPPQIPPQM
                     PPQIPQYQPLGQQVPHMPLAKDGLAMGKEMPHLQYGKEYPHLPQYMKEIQPAPRMGKE
                     AVPKKGKEIPLASLRGEQGPRGEPGPRGPPGPPGLPGHGIPGIKGKPGPQGYPGVGKP
                     GMPGMPGKPGAMGMPGAKGEIGQKGEIGPMGIPGPQGPPGPHGLPGIGKPGGPGLPGQ
                     PGPKGDRGPKGLPGPQGLRGPKGDKGFGMPGAPGVKGPPGMHGPPGPVGLPGVGKPGV
                     TGFPGPQGPLGKPGAPGEPGPQGPIGVPGVQGPPGIPGIGKPGQDGIPGQPGFPGGKG
                     EQGLPGLPGPPGLPGIGKPGFPGPKGDRGMGGVPGALGPRGEKGPIGAPGIGGPPGEP
                     GLPGIPGPMGPPGAIGFPGPKGEGGIVGPQGPPGPKGEPGLQGFPGKPGFLGEVGPPG
                     MRGLPGPIGPKGEAGQKGVPGLPGVPGLLGPKGEPGIPGDQGLQGPPGIPGIGGPSGP
                     IGPPGIPGPKGEPGLPGPPGFPGIGKPGVAGLHGPPGKPGALGPQGQPGLPGPPGPPG
                     PPGPPAVMPPTPPPQGEYLPDMGLGIDGVKPPHAYGAKKGKNGGPAYEMPAFTAELTA
                     PFPPVGAPVKFNKLLYNGRQNYNPQTGIFTCEVPGVYYFAYHVHCKGGNVWVALFKNN
                     EPVMYTYDEYKKGFLDQASGSAVLLLRPGDRVFLQMPSEQAAGLYAGQYVHSSFSGYL
                     LYPM"
     exon            528..5515
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2583..2588
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
                     /note="hexamer: AATAAA"
     polyA_site      2614
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
     regulatory      4371..4376
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
                     /note="hexamer: AATAAA"
     polyA_site      4393
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
     regulatory      5496..5501
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
                     /note="hexamer: ATTAAA"
     polyA_site      5515
                     /gene="COL8A1"
                     /gene_synonym="C3orf7"
                     /note="major polyA site"
ORIGIN      
        1 ggatcacagc ccttccccga tcctctccgt gggagccagc gagcctctct ccctgatctt
       61 acgtgctcaa gaagctgttg tgaaggcaga gcagcatctg ctgaagagac agaaaccagc
      121 cccagaggtg tcacaggaag gcaccagcaa ggacattggt ctttgatttg attcagcagt
      181 cctgtcaagt ataaatgtga tggctgtgct gcctggccct ctgcagctgc tgggagtgct
      241 gcttaccatt tccctgagtt ccatcaggct cattcaggct ggtgcctact atgggatcaa
      301 gccgctgcca cctcaaattc ctcctcagat gccaccacaa attccacaat accagcccct
      361 gggtcagcaa gtacctcaca tgcctttggc caaagatggc cttgccatgg gcaaggagat
      421 gccccacttg cagtatggca aagagtatcc acacctaccc caatatatga aggaaattca
      481 accggcgcca agaatgggca aggaagccgt acccaagaaa ggcaaagaaa taccattagc
      541 cagtttacga ggggaacaag gtccccgtgg agagcctggc ccaagaggac cacctgggcc
      601 ccctggtttg ccaggtcatg ggatacctgg aattaaagga aaaccagggc cacagggata
      661 tccaggagtt ggaaagccag gtatgcctgg aatgccaggg aagccaggag ccatgggcat
      721 gcctggggca aaaggagaaa ttggacagaa aggggaaatt gggcctatgg ggatcccagg
      781 accacaagga cctccagggc ctcatggact tcctggcatt gggaagccag gtgggccagg
      841 gttaccaggg caaccaggac caaagggtga tcgaggaccc aaaggactac caggacctca
      901 aggccttcgg ggtcctaaag gagacaaggg cttcgggatg ccaggtgcgc caggtgtaaa
      961 ggggcctcca gggatgcacg gccctcccgg ccctgttgga ctgccaggag tgggcaaacc
     1021 aggagtgaca ggcttccctg ggccccaggg ccccctggga aagccagggg ctccaggaga
     1081 acctgggcca caaggcccta ttggggtacc gggggttcaa ggacctcctg ggatacccgg
     1141 aattggaaag ccaggccagg atgggatccc aggccagcca ggatttccag gtggcaaagg
     1201 ggagcaagga ctgccagggc taccaggacc cccaggcctt ccagggattg ggaaaccagg
     1261 cttcccagga cccaaaggtg accggggcat gggaggtgtt cctggggctc ttggaccaag
     1321 aggggagaaa ggaccaatag gtgccccagg aatagggggt cctccaggag agccaggcct
     1381 gcctggaatc ccaggtccta tgggccctcc aggtgctatt ggttttcctg gacccaaagg
     1441 agaaggtggg attgtagggc cacaggggcc accaggtccc aagggtgagc cagggcttca
     1501 aggcttccca ggaaagccag gtttccttgg tgaagtaggg cctcctggca tgaggggttt
     1561 gccaggtccc atagggccca agggggaagc tgggcaaaaa ggtgtaccag gactccctgg
     1621 tgttccaggg cttctcggac ctaagggaga gccaggaatc ccaggggatc agggtttaca
     1681 gggcccccca ggtatcccag ggattggggg ccctagtggc cccattggac cacctgggat
     1741 tccaggcccc aaaggggagc cgggcctccc agggccccct gggttccctg gtatagggaa
     1801 acccggagtg gcaggacttc atggcccccc agggaagcct ggtgcccttg gtcctcaagg
     1861 ccagcctggc cttccaggac ccccaggccc tccaggacct ccaggacccc cagctgtgat
     1921 gccccctaca ccaccacccc agggagagta tctgccagat atggggctgg gaattgatgg
     1981 cgtgaaaccc ccccatgcct acggggctaa gaaaggcaag aatggagggc cagcctatga
     2041 gatgcctgca tttaccgccg agctaaccgc acctttccca ccggtggggg ccccagtgaa
     2101 gtttaacaaa ctgctgtata acggcagaca gaactacaac ccgcagacag gcatcttcac
     2161 ctgtgaggtc cctggtgtct actactttgc ataccacgtt cactgcaagg ggggcaacgt
     2221 gtgggttgct ctattcaaga acaacgagcc cgtgatgtac acgtacgacg agtacaaaaa
     2281 gggcttcctg gaccaggcat ctgggagtgc agtgctgctg ctcaggcccg gagaccgggt
     2341 gttcctccag atgccctcag aacaggctgc aggactgtat gccgggcagt atgtccactc
     2401 ctccttttca ggatatttat tgtatcccat gtaaaaacaa aaaaacaaaa aacaaagaaa
     2461 agaaagagat tttatagaag aaaatgacac accaaaaaat ccaaatgaaa aacataattg
     2521 cttcaaaaca cttacacagt tggaaagtta tatgtaagtg aaaatttgga ccattgtgta
     2581 caaataaaaa ctaagatgca tgtttaatac tccacacagc agcctgtaat tgcgaatgat
     2641 gggatagagt tatgtatcaa gtactgacac ttggttgtac ccactggaat catattagct
     2701 gttttatgtt atatgcttcc acagtaacct gcttattcag atcagtcaaa atatatcagt
     2761 atgaaagatc atagctaatg aaaggcactc actcatattg tttactttaa aatatttata
     2821 aatatgcctt aaagaaatac aaatgataac aattacatac cgtatttact tgcttaattt
     2881 cctctgtatt tgtgtagata ctttgacatg gaatatatgg tggggagacc cgtagtgtta
     2941 ccgccccagt gggagggggc cctggggacc ctggtaatgc tttagtcaaa gggatatctc
     3001 tcttgtatca gaggctgtgt cttttagtaa caggagtcct cgtcagaatt gcgtgtctgt
     3061 tgtctctaaa agaatgggtg aaccaatcgg cctttgtgaa tttattcagt gccttctctg
     3121 taccaagcac tgggtaaggc acttttgtgg agcattagac agtaaccctc aaggagctag
     3181 agaaccggat gggagacatg agcagtaatt aactcacttg ttccccagag tttctatttg
     3241 ttttgatttt ctttttctgt gacttatttt cctattttct ttcctccatg taattttcac
     3301 tatggcccaa ctaatataaa cacctggaaa ttacaaggaa aaaaaattct tcctctaata
     3361 actttccaaa tttgtggaat atttatttgt aatagcagtt atcagttatg cttatatagc
     3421 attaaaaatt ctcctccttt gactacacac acaaccacag tgtggttcta atcatggaga
     3481 tatcagtaat ttttagtaac tgaattttga ggacatttct ctgtttagca tgtatgcaaa
     3541 ctgatatgta atctgaggtt ccaaagtcaa tttttttctt ttttttttga gatggagtct
     3601 tactctgtca cccaggctgg agtgcagtag cacgatcttg gcttactgca acctctacct
     3661 cctaggttca agcaattgtc ctgtctcagc ctcccgagta ctgggactac tgtcttgcgc
     3721 caccatgcct ggctaatttt tgtatattta gtaaagatgg gttttcgcca tgttggccag
     3781 gctggtctca aactcctggc ctcaagtgat gcacctgcct cagccttcca aagtgctggg
     3841 attacaggca tgagccaccg tgcccggcca aagtcagctt tcaaaatcca agccataatt
     3901 ggtgaggggg gagtttcaga attacataga aaaattaata tttgaaaaaa taattctgaa
     3961 atttcgaatt taaaaacaga tgtgctgctt ctgggtgtag gtagtaaaag tataggaaaa
     4021 gaactgtttc cttagaagcg gactgtggaa gggctatgta gaatgtcaaa gggcaacaag
     4081 agcctgtgtt tttaatgtca tcctgtactc ggcacaaatc aaaggccaat acaagtctga
     4141 aaagcagaaa taaatatttt tccaggtttt tgcttgggca catactaact gctttgggca
     4201 ttctaatctg gtctccaaac accaaagacc catttcgagc ctgctattag cctgctgctg
     4261 actctatcac ttggagcaat aatgtggggt tatggtggtg gaatcttgta tatttttgtc
     4321 aaaaataaaa ccatgagtta aggggataga tatagatgga aaaatacaca aataaatacg
     4381 gtatgaaaac acatggaaat gtgtctttgt caaatctgaa tcattattac catcacaaaa
     4441 attcttctct tggccaatat ctcatttccc tatatagtat acaagcacca tttcttctca
     4501 atttttaaga agagaaatta gtccattacc acaggggttc ttgtcactac taattataca
     4561 acaatctttt cccaacaaaa agatgtcctc cacaaccttt gttttcaaag cagacagcat
     4621 ctatgtggcc aaatatactt tgggttgttc ttgaggatac tggttttggg ctgatgacta
     4681 tggtgggcag catggatcca ttgggctcct tctgctaaac agccacattg aaatggttta
     4741 aaagcaagtc agatcaggtg atttgtaaaa ttgtatttat ctgtacatgt atgggctttt
     4801 aattcccacc aagaaagaga gaaattatct ttttagttaa aaccaaattt cacttttcaa
     4861 aatatcttcc aacttattta ttggttgtca ctcaattgcc tatatatata tatatatgtg
     4921 tgtgtgtgtg tgtgtgcgcg tgagcgcacg tgtgtgtatg cgtgcgcatg tgtgtgtatg
     4981 tgtattatca gacataggtt tctaactttt agatagaaga ggagcaacat ctatgccaaa
     5041 tactgtgcat tctacaatgg tgctaatctc agacctaaat gatactccat ttaatttaaa
     5101 aaagagtttt aaataattat ctatgtgcct gtatttccct tttgagtgct gcacaacatg
     5161 ttaacatatt agtgtaaaag cagatgaaac aaccacgtgt tctaaagtct agggattgtg
     5221 ctataatccc tatttagttc aaaattaacc agaattcttc catgtgaaat ggaccaaact
     5281 catattattg ttatgtaaat acagagtttt aatgcagtat gacatcccac aggggaaaag
     5341 aatgtctgta gtgggtgact gttatcaaat attttataga atacaatgaa cggtgaacag
     5401 actggtaact tgtttgagtt cccatgacag atttgagact tgtcaatagc aaatcatttt
     5461 tgtatttaaa tttttgtact gatttgaaaa acatcattaa atatctttaa aagta
//
