LOCUS       NM_001374319            2112 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens cysteine rich with EGF like domains 1 (CRELD1),
            transcript variant 7, mRNA.
ACCESSION   NM_001374319
VERSION     NM_001374319.1
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 2112)
  AUTHORS   Jeffries,L., Mis,E.K., McWalter,K., Donkervoort,S., Brodsky,N.N.,
            Carpier,J.M., Ji,W., Ionita,C., Roy,B., Morrow,J.S., Darbinyan,A.,
            Iyer,K., Aul,R.B., Banka,S., Chao,K.R., Cobbold,L., Cohen,S.,
            Custodio,H.M., Drummond-Borg,M., Elmslie,F., Finanger,E.,
            Hainline,B.E., Helbig,I., Hewson,S., Hu,Y., Jackson,A.,
            Josifova,D., Konstantino,M., Leach,M.E., Mak,B., McCormick,D.,
            McGee,E., Nelson,S., Nguyen,J., Nugent,K., Ortega,L., Goodkin,H.P.,
            Roeder,E., Roy,S., Sapp,K., Saade,D., Sisodiya,S.M., Stals,K.,
            Towner,S., Wilson,W., Khokha,M.K., Bonnemann,C.G., Lucas,C.L. and
            Lakhani,S.A.
  CONSRTM   Deciphering Developmental Disorders; Genomics England Research
            Consortium; Undiagnosed Disease Network
  TITLE     Biallelic CRELD1 variants cause a multisystem syndrome, including
            neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent
            infections
  JOURNAL   Genet Med 26 (2), 101023 (2024)
   PUBMED   37947183
  REMARK    GeneRIF: Biallelic CRELD1 variants cause a multisystem syndrome,
            including neurodevelopmental phenotypes, cardiac dysrhythmias, and
            frequent infections.
REFERENCE   2  (bases 1 to 2112)
  AUTHORS   Pinnaro,C.T., Beck,C.B., Major,H.J. and Darbro,B.W.
  TITLE     CRELD1 variants are associated with bicuspid aortic valve in Turner
            syndrome
  JOURNAL   Hum Genet 142 (4), 523-530 (2023)
   PUBMED   36929416
  REMARK    GeneRIF: CRELD1 variants are associated with bicuspid aortic valve
            in Turner syndrome.
REFERENCE   3  (bases 1 to 2112)
  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   4  (bases 1 to 2112)
  AUTHORS   D'Alessandro,M., Richard,M., Stigloher,C., Gache,V., Boulin,T.,
            Richmond,J.E. and Bessereau,J.L.
  TITLE     CRELD1 is an evolutionarily-conserved maturational enhancer of
            ionotropic acetylcholine receptors
  JOURNAL   Elife 7, e39649 (2018)
   PUBMED   30407909
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2112)
  AUTHORS   Asim,A., Agarwal,S., Panigrahi,I., Sarangi,A.N., Muthuswamy,S. and
            Kapoor,A.
  TITLE     CRELD1 gene variants and atrioventricular septal defects in Down
            syndrome
  JOURNAL   Gene 641, 180-185 (2018)
   PUBMED   29054759
  REMARK    GeneRIF: The CRELD1 gene is likely to have a major role in
            causation of AVSD phenotype in selected DS patients.
REFERENCE   6  (bases 1 to 2112)
  AUTHORS   Sarkozy,A., Esposito,G., Conti,E., Digilio,M.C., Marino,B.,
            Calabro,R., Pizzuti,A. and Dallapiccola,B.
  TITLE     CRELD1 and GATA4 gene analysis in patients with nonsyndromic
            atrioventricular canal defects
  JOURNAL   Am J Med Genet A 139 (3), 236-238 (2005)
   PUBMED   16278904
REFERENCE   7  (bases 1 to 2112)
  AUTHORS   Zatyka,M., Priestley,M., Ladusans,E.J., Fryer,A.E., Mason,J.,
            Latif,F. and Maher,E.R.
  TITLE     Analysis of CRELD1 as a candidate 3p25 atrioventicular septal
            defect locus (AVSD2)
  JOURNAL   Clin Genet 67 (6), 526-528 (2005)
   PUBMED   15857420
REFERENCE   8  (bases 1 to 2112)
  AUTHORS   Robinson,S.W., Morris,C.D., Goldmuntz,E., Reller,M.D., Jones,M.A.,
            Steiner,R.D. and Maslen,C.L.
  TITLE     Missense mutations in CRELD1 are associated with cardiac
            atrioventricular septal defects
  JOURNAL   Am J Hum Genet 72 (4), 1047-1052 (2003)
   PUBMED   12632326
  REMARK    GeneRIF: Missense mutations in this protein are associated with
            cardiac atrioventricular septal defects.
REFERENCE   9  (bases 1 to 2112)
  AUTHORS   Rupp,P.A., Fouad,G.T., Egelston,C.A., Reifsteck,C.A., Olson,S.B.,
            Knosp,W.M., Glanville,R.W., Thornburg,K.L., Robinson,S.W. and
            Maslen,C.L.
  TITLE     Identification, genomic organization and mRNA expression of CRELD1,
            the founding member of a unique family of matricellular proteins
  JOURNAL   Gene 293 (1-2), 47-57 (2002)
   PUBMED   12137942
REFERENCE   10 (bases 1 to 2112)
  AUTHORS   Green,E.K., Priestley,M.D., Waters,J., Maliszewska,C., Latif,F. and
            Maher,E.R.
  TITLE     Detailed mapping of a congenital heart disease gene in chromosome
            3p25
  JOURNAL   J Med Genet 37 (8), 581-587 (2000)
   PUBMED   10922384
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018809.5.
            
            Summary: This gene encodes a member of a subfamily of epidermal
            growth factor-related proteins. The encoded protein is
            characterized by a cysteine-rich with epidermal growth factor-like
            domain. This protein may function as a cell adhesion molecule.
            Mutations in this gene are the cause of atrioventricular septal
            defect. Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Apr 2010].
            
            Transcript Variant: This variant (7), as well as variant 8, encodes
            isoform 4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR14372079.624752.1,
                                           SRR14372080.1431879.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                AC018809.5         45169-45255         c
            88-280              AC018809.5         44477-44669         c
            281-363             AC018809.5         44172-44254         c
            364-474             AC018809.5         41417-41527         c
            475-566             AC018809.5         40983-41074         c
            567-743             AC018809.5         38063-38239         c
            744-839             AC018809.5         37883-37978         c
            840-935             AC018809.5         35917-36012         c
            936-1070            AC018809.5         35574-35708         c
            1071-2112           AC018809.5         33683-34724         c
FEATURES             Location/Qualifiers
     source          1..2112
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..2112
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /note="cysteine rich with EGF like domains 1"
                     /db_xref="GeneID:78987"
                     /db_xref="HGNC:HGNC:14630"
                     /db_xref="MIM:607170"
     exon            1..87
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     exon            88..280
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..1285
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /EC_number="5.3.4.1"
                     /note="isoform 4 precursor is encoded by transcript
                     variant 7; protein disulfide isomerase CRELD1"
                     /codon_start=1
                     /product="protein disulfide isomerase CRELD1 isoform 4
                     precursor"
                     /protein_id="NP_001361248.1"
                     /db_xref="CCDS:CCDS93208.1"
                     /db_xref="GeneID:78987"
                     /db_xref="HGNC:HGNC:14630"
                     /db_xref="MIM:607170"
                     /translation="MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPH
                     PCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENLSKYKDSETRLVEVLEGVCSKSD
                     FECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
                     RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPC
                     ARCSGPEESNCLQCKKGWALHHLKCVDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCL
                     DVDECETEVCPGENKQCENTEGGYRCICAEGYKQMEGICVKEQIPESAGFFSEMTEDE
                     LVVLQQMFFGIIICALATLAAKGDLVFTAIFIGAVAAMTGYWLSERSDRVLEGFIKGR
                     "
     exon            281..363
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     exon            364..474
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     exon            475..566
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     exon            567..743
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     exon            744..839
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     exon            840..935
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1070
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..2112
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1715..1720
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /note="hexamer: AAGAAA"
     polyA_site      1738
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /note="major polyA site"
     regulatory      2075..2080
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /note="hexamer: AATAAA"
     polyA_site      2112
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
ORIGIN      
        1 aggctgtggc agcgacgcgg tgaggagacg gcccacggcg cccgcgggct ggggcggtcg
       61 cttcttcctt ctccgtggcc tacgagggtc cccagcctgg gtaaagatgg ccccatggcc
      121 cccgaagggc ctagtcccag ctatgctctg gggcctcagc ctcttcctca acctcccagg
      181 acctatctgg ctccagccct ctccacctcc ccagtcttct cccccgcctc agccccatcc
      241 gtgtcatacc tgccggggac tggttgacag ctttaacaag ggcctggaga gaaccatccg
      301 ggacaacttt ggaggtggaa acactgcctg ggaggaagag aatttgtcca aatacaaaga
      361 cagtgagacc cgcctggtag aggtgctgga gggtgtgtgc agcaagtcag acttcgagtg
      421 ccaccgcctg ctggagctga gtgaggagct ggtggagagc tggtggtttc acaagcagca
      481 ggaggccccg gacctcttcc agtggctgtg ctcagattcc ctgaagctct gctgccccgc
      541 aggcaccttc gggccctcct gccttccctg tcctggggga acagagaggc cctgcggtgg
      601 ctacgggcag tgtgaaggag aagggacacg agggggcagc gggcactgtg actgccaagc
      661 cggctacggg ggtgaggcct gtggccagtg tggccttggc tactttgagg cagaacgcaa
      721 cgccagccat ctggtatgtt cggcttgttt tggcccctgt gcccgatgct caggacctga
      781 ggaatcaaac tgtttgcaat gcaagaaggg ctgggccctg catcacctca agtgtgtaga
      841 ctgtgccaag gcctgcctag gctgcatggg ggcagggcca ggtcgctgta agaagtgtag
      901 ccctggctat cagcaggtgg gctccaagtg tctcgatgtg gatgagtgtg agacagaggt
      961 gtgtccggga gagaacaagc agtgtgaaaa caccgagggc ggttatcgct gcatctgtgc
     1021 cgagggctac aagcagatgg aaggcatctg tgtgaaggag cagatcccag agtcagcagg
     1081 cttcttctca gagatgacag aagacgagtt ggtggtgctg cagcagatgt tctttggcat
     1141 catcatctgt gcactggcca cgctggctgc taagggcgac ttggtgttca ccgccatctt
     1201 cattggggct gtggcggcca tgactggcta ctggttgtca gagcgcagtg accgtgtgct
     1261 ggagggcttc atcaagggca gataatcgcg gccaccacct gtaggacctc ctcccaccca
     1321 cgctgccccc agagcttggg ctgccctcct gctggacact caggacagct tggtttattt
     1381 ttgagagtgg ggtaagcacc cctacctgcc ttacagagca gcccaggtac ccaggcccgg
     1441 gcagacaagg cccctggggt aaaaagtagc cctgaaggtg gataccatga gctcttcacc
     1501 tggcggggac tggcaggctt cacaatgtgt gaatttcaaa agtttttcct taatggtggc
     1561 tgctagagct ttggcccctg cttaggatta ggtggtcctc acaggggtgg ggccatcaca
     1621 gctccctcct gccagctgca tgctgccagt tcctgttctg tgttcaccac atccccacac
     1681 cccattgcca cttatttatt catctcagga aataaagaaa ggtcttggaa agttaaaagg
     1741 catcagtctt actacctgtc ccaccacccc caccttaggg aaatgtccta gaatcctggg
     1801 aaattgaggg cttctttgat ggtgagtgga gaaaagatag aggagaaggt tgcccctgaa
     1861 gtgctgttag gagaaggagg atagaggaat cagccttagg agggttccat gccagctgtc
     1921 atttggcaaa ggaccctgga cagatgactt ttgcctctga acttcactct tctctttcct
     1981 caaatgggct tcataatgct ttccactcag gcttaacatg agaattaaat gaggtgacaa
     2041 atgtgaagac ctggacagta cacaacagat attcaataaa agtgtggtcg ccattatgac
     2101 cagagcctcc aa
//
