LOCUS       NM_001278563            2978 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens collagen type XXVI alpha 1 chain (COL26A1), transcript
            variant 1, mRNA.
ACCESSION   NM_001278563
VERSION     NM_001278563.3
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 2978)
  AUTHORS   Cappelletto,A., Alfi,E., Volf,N., Vu,T.V.A., Bortolotti,F.,
            Ciucci,G., Vodret,S., Fantuz,M., Perin,M., Colliva,A., Rozzi,G.,
            Rossi,M., Ruozi,G., Zentilin,L., Vuerich,R., Borin,D., Lapasin,R.,
            Piazza,S., Chiesa,M., Lorizio,D., Triboli,L., Kumar,S., Morello,G.,
            Tripodo,C., Pinamonti,M., Piperno,G.M., Benvenuti,F., Rustighi,A.,
            Jo,H., Piccolo,S., Del Sal,G., Carrer,A., Giacca,M. and
            Zacchigna,S.
  TITLE     EMID2 is a novel biotherapeutic for aggressive cancers identified
            by in vivo screening
  JOURNAL   J Exp Clin Cancer Res 43 (1), 15 (2024)
   PUBMED   38195652
  REMARK    GeneRIF: EMID2 is a novel biotherapeutic for aggressive cancers
            identified by in vivo screening.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2978)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2978)
  AUTHORS   Deng,X., Sabino,E.C., Cunha-Neto,E., Ribeiro,A.L., Ianni,B.,
            Mady,C., Busch,M.P. and Seielstad,M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2978)
  AUTHORS   Soteriou,D., Iskender,B., Byron,A., Humphries,J.D.,
            Borg-Bartolo,S., Haddock,M.C., Baxter,M.A., Knight,D.,
            Humphries,M.J. and Kimber,S.J.
  TITLE     Comparative proteomic analysis of supportive and unsupportive
            extracellular matrix substrates for human embryonic stem cell
            maintenance
  JOURNAL   J Biol Chem 288 (26), 18716-18731 (2013)
   PUBMED   23658023
REFERENCE   5  (bases 1 to 2978)
  AUTHORS   Pasaje,C.F., Bae,J.S., Park,B.L., Cheong,H.S., Kim,J.H., Jang,A.S.,
            Uh,S.T., Park,C.S. and Shin,H.D.
  TITLE     Possible role of EMID2 on nasal polyps pathogenesis in Korean
            asthma patients
  JOURNAL   BMC Med Genet 13, 2 (2012)
   PUBMED   22217332
  REMARK    GeneRIF: 13 EMID2 variants were significantly associated with the
            presence of nasal polyps in the overall asthma group.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2978)
  AUTHORS   Lettice,L.A., Daniels,S., Sweeney,E., Venkataraman,S.,
            Devenney,P.S., Gautier,P., Morrison,H., Fantes,J., Hill,R.E. and
            FitzPatrick,D.R.
  TITLE     Enhancer-adoption as a mechanism of human developmental disease
  JOURNAL   Hum Mutat 32 (12), 1492-1499 (2011)
   PUBMED   21948517
REFERENCE   7  (bases 1 to 2978)
  AUTHORS   Pasaje,C.F., Kim,J.H., Park,B.L., Cheong,H.S., Kim,M.K., Choi,I.S.,
            Cho,S.H., Hong,C.S., Lee,Y.W., Lee,J.Y., Koh,I.S., Park,T.J.,
            Lee,J.S., Kim,Y., Bae,J.S., Park,C.S. and Shin,H.D.
  TITLE     A possible association of EMID2 polymorphisms with aspirin
            hypersensitivity in asthma
  JOURNAL   Immunogenetics 63 (1), 13-21 (2011)
   PUBMED   21086123
  REMARK    GeneRIF: EMID2 may be a susceptible genetic factor for aspirin
            hypersensitivity among asthmatics in Korean population.
            GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 2978)
  AUTHORS   Sato,K., Yomogida,K., Wada,T., Yorihuzi,T., Nishimune,Y.,
            Hosokawa,N. and Nagata,K.
  TITLE     Type XXVI collagen, a new member of the collagen family, is
            specifically expressed in the testis and ovary
  JOURNAL   J Biol Chem 277 (40), 37678-37684 (2002)
   PUBMED   12145293
REFERENCE   9  (bases 1 to 2978)
  AUTHORS   Leimeister,C., Steidl,C., Schumacher,N., Erhard,S. and Gessler,M.
  TITLE     Developmental expression and biochemical characterization of Emu
            family members
  JOURNAL   Dev Biol 249 (2), 204-218 (2002)
   PUBMED   12221002
REFERENCE   10 (bases 1 to 2978)
  AUTHORS   van der Rest,M. and Garrone,R.
  TITLE     Collagen family of proteins
  JOURNAL   FASEB J 5 (13), 2814-2823 (1991)
   PUBMED   1916105
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX163123.1, AJ416091.1,
            BC085006.1, BU845945.1 and BC110393.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001278563.2.
            
            Summary: This gene encodes a protein containing an emilin domain
            and two collagen stretches. This gene may be associated with
            aspirin-intolerant asthma. Alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.56930.1,
                                           SRR1660807.420982.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145774, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313669.12/ ENSP00000318234.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-158               CX163123.1         8-165
            159-1484            AJ416091.1         1-1326
            1485-2162           BC085006.1         1477-2154
            2163-2846           BU845945.1         118-801
            2847-2978           BC110393.1         2815-2946
FEATURES             Location/Qualifiers
     source          1..2978
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..2978
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /note="collagen type XXVI alpha 1 chain"
                     /db_xref="GeneID:136227"
                     /db_xref="HGNC:HGNC:18038"
                     /db_xref="MIM:608927"
     exon            1..316
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..1484
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; collagen alpha-1(XXVI) chain; emilin and
                     multimerin domain-containing protein 2; EMI domain
                     containing 2; collagen, type XXVI, alpha 1"
                     /codon_start=1
                     /product="collagen alpha-1(XXVI) chain isoform 1
                     precursor"
                     /protein_id="NP_001265492.1"
                     /db_xref="CCDS:CCDS64739.1"
                     /db_xref="GeneID:136227"
                     /db_xref="HGNC:HGNC:18038"
                     /db_xref="MIM:608927"
                     /translation="MKLALLLPWACCCLCGSALATGFLYPFSAAALQQHGYPEPGAGS
                     PGSGYASRRHWCHHTVTRTVSCQVQNGSETVVQRVYQSCRWPGPCANLVSYRTLIRPT
                     YRVSYRTVTVLEWRCCPGFTGSNCDEECMNCTRLSDMSERLTTLEAKVLLLEAAERPS
                     SPDNDLPAPESTPPTWNEDFLPDAIPLAHPVPRQRRPTGPAGPPGQTGPPGPAGPPGS
                     KGDRGQTGEKGPAGPPGLLGPPGPRGLPGEMGRPGPPGPPGPAGNPGPSPNSPQGALY
                     SLQPPTDKDNGDSRLASAIVDTVLAGVPGPRGPPGPPGPPGPRGPPGPPGTPGSQGLA
                     GERGTVGPSGEPGVKGEEGEKAATAEGEGVQQLREALKILAERVLILEHMIGIHDPLA
                     SPEGGSGQDAALRANLKMKRGGAQPDGVLAALLGPDPGQKSVDQASSRK"
     exon            317..439
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            440..543
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            544..605
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            606..762
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            763..861
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            862..1014
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1098
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1151
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1187
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1238
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1323
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1324..2978
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2959..2964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /note="hexamer: AATAAA"
     polyA_site      2978
                     /gene="COL26A1"
                     /gene_synonym="EMI6; EMID2; EMU2; SH2B"
                     /note="major polyA site"
ORIGIN      
        1 gccccccaca catttccagc tcgcacccgg gctccgaccg ctcgccccgc tcctctcgct
       61 gtgctcccgg ccggtgccgc gggttcggtc cgggcgccgg tgcgctcctg ccggtcctcg
      121 tgcccgggac tccgggtccc cgcgggctgc tgcgcacgat gaagctggcc ctgctcctgc
      181 cctgggcgtg ttgctgcctc tgcgggtcgg cgctggccac cggcttcctc tatcccttct
      241 cggccgcagc tctgcagcag cacggctacc ccgagcccgg cgccggctcc cctggcagcg
      301 gctacgcgag ccgccggcac tggtgccatc acacagtgac acggacggtg tcctgccagg
      361 tgcagaatgg ctcggagacg gtggtccagc gcgtgtacca gagctgccgg tggccggggc
      421 cctgcgccaa cctcgtaagt tacaggactc tgatcagacc cacctacaga gtgtcctacc
      481 gcacggtgac ggtgctggag tggagatgct gccctggctt caccgggagc aactgtgatg
      541 aggaatgcat gaactgcacc cggctcagtg acatgagtga gcgactgacc acactggagg
      601 ccaaggtcct cctgctagaa gcagcagaac ggccctccag cccggacaac gacctgccag
      661 cccccgagag cactccgccg acctggaatg aggacttcct ccccgacgcc atccctcttg
      721 ctcaccctgt gccacgacag agaaggccca cgggcccagc cgggcccccg gggcagacag
      781 gaccaccagg gcctgcaggc ccccccgggt ctaaaggtga ccgaggccag acaggagaga
      841 agggtccagc ggggccgcct gggctcctgg ggcctccagg gccccgtggg cttcctggag
      901 agatggggcg ccccggcccc ccaggaccac ccggcccagc aggcaaccca ggcccctcac
      961 caaacagccc ccagggcgcc ctctactccc tgcagccgcc tacagacaaa gacaatggag
     1021 actcaaggct ggcctctgcc atcgtggaca cagtgctggc aggtgtccca ggaccccggg
     1081 gtccccctgg tccaccaggt ccccctgggc ctcgaggtcc cccaggaccc ccaggaacac
     1141 ctggatccca gggcctggct ggagagcgag gcacagtggg gccgtccggt gaacctggcg
     1201 tgaaggggga agaaggagag aaagccgcca ctgcagaggg cgagggggtg cagcagctga
     1261 gagaggccct gaagatcctg gcagagcgag tcctcatcct ggagcacatg attgggatcc
     1321 acgatcccct ggcctcccca gagggaggtt ctggccagga tgctgccctg agagccaacc
     1381 tcaagatgaa gaggggtggc gcccaacccg atggggtcct tgctgccctg cttgggcccg
     1441 accctggaca gaagagcgtg gaccaggcca gcagcaggaa gtgagagccc actgctccag
     1501 gacaccctgt cctggctaga gacccagccc cagaggcctg agccgccgct gtttcctaaa
     1561 gatgccccca ggggaactgg gctccaggca tggatgattg tgaggacatg gggggctttg
     1621 gggacagata atgtctccag gggcagggtc tggaggggcc aacaccctca tcagagccct
     1681 cctctggcct gtcccctccc ctacccccac tcccggctgg agacggggtc tgggtgggct
     1741 gggtgctggg aatgagaata atcctaatac ccatcattta ttgagtccct gctgtaactg
     1801 gccctgtcca gggaactttc gttacgttgt ctcattattt aacccttagg aggtaagctt
     1861 attatcccca cttcacaagg ggaccgaggc tcagacggta gaaataaccc tctcttggcc
     1921 accagatcac gggtggcagg ggcaggattt gaacccagga ccctcagttc ctgaagccat
     1981 gttctctcga ccctgccagc ttcccctctt cgagagaaaa ctcagacagg gagggcgcag
     2041 ggccagaacg gctccttaag gcaggcaggg ctgcggggag gctgggccag ccagcctgag
     2101 ggggtaggca gggtcctgca gggcctgggg cttcccttcc tcatccccct tccccactgg
     2161 ctgggggagc agcctggact gcagctctca gaggccaggg agaccctgaa taaatcactg
     2221 ccagccatac ggacttgagg accttgagag agaagcattg ggggtgcaag tgtccaccaa
     2281 accagatagg catccctggc cactgcctcc cagtcttgct gagcccaccc gctctctctg
     2341 ggtccatccc atccctgagc caggggaggc agcatttcat gggcatgtct atcagaggtg
     2401 ggacttgcag cctctgcccc acgagtttgt ctctcagtgg actctatagg tttgctactt
     2461 ttgcatgaca cagcaagccc agtgtcccct ttgcaagctg cagagaggga aacagagtcc
     2521 caggcctgct gggaagagat gctcctgcct cccaccttcc agagttgggg gcctggcagg
     2581 ctccatggca ggcaccaggt ccctagcagc ccagaacagc tctgactgga gccctcaagg
     2641 cctctggggc cagggtctcc gtgatcagct cagccctggt gttcctctct tgctgggctg
     2701 ggacctggga cacagccacg gcagcaaact cagagaattg aaggtgctgg cgccaccctg
     2761 gggcactctg tcttcacagc aggagtgact gtctccagtg ctcttggtac tcctgtttgg
     2821 ctgtggcctg gtccctctgg gccctgggat cttcttctgg cccttgaggc aggtctggag
     2881 aggcagtctc tgtcttcatg gaggggtggt cagaggcggg cgggaccacc agcctgtagc
     2941 gttattatta tatgtgacaa taaaggtgct ctccccac
//
