LOCUS       NM_001077415            2196 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens cysteine rich with EGF like domains 1 (CRELD1),
            transcript variant 3, mRNA.
ACCESSION   NM_001077415
VERSION     NM_001077415.3
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 2196)
  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 2196)
  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 2196)
  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 2196)
  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 2196)
  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 2196)
  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 2196)
  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 2196)
  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 2196)
  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 2196)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001077415.2.
            
            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 (3) lacks an exon in the 3' coding
            region, which results in a frameshift, compared to variant 1. The
            resulting protein (isoform 2) is shorter and has a distinct
            C-terminus, compared to isoform 1. Variants 2, 3, and 4 all encode
            the same isoform (2).
            
            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 :: SRR1803615.220143.1, SRR3476690.65.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000452070.6/ ENSP00000393643.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-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
            840-923             AC018809.5         36193-36276         c
            924-1019            AC018809.5         35917-36012         c
            1020-1154           AC018809.5         35574-35708         c
            1155-2196           AC018809.5         33683-34724         c
FEATURES             Location/Qualifiers
     source          1..2196
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..2196
                     /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..1369
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /EC_number="5.3.4.1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 3; protein disulfide isomerase CRELD1"
                     /codon_start=1
                     /product="protein disulfide isomerase CRELD1 isoform 2
                     precursor"
                     /protein_id="NP_001070883.2"
                     /db_xref="CCDS:CCDS2593.1"
                     /db_xref="GeneID:78987"
                     /db_xref="HGNC:HGNC:14630"
                     /db_xref="MIM:607170"
                     /translation="MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPH
                     PCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENLSKYKDSETRLVEVLEGVCSKSD
                     FECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTE
                     RPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPC
                     ARCSGPEESNCLQCKKGWALHHLKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAK
                     ACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQCENTEGGYRCICAE
                     GYKQMEGICVKEQIPESAGFFSEMTEDELVVLQQMFFGIIICALATLAAKGDLVFTAI
                     FIGAVAAMTGYWLSERSDRVLEGFIKGR"
     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..923
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1019
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1154
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..2196
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1799..1804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /note="hexamer: AAGAAA"
     polyA_site      1822
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /note="major polyA site"
     regulatory      2159..2164
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRELD1"
                     /gene_synonym="AVSD2; CIRRIN; JELANS"
                     /note="hexamer: AATAAA"
     polyA_site      2196
                     /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 cattgatgag tgtggcacag agggagccaa ctgtggagct gaccaattct gcgtgaacac
      901 tgagggctcc tatgagtgcc gagactgtgc caaggcctgc ctaggctgca tgggggcagg
      961 gccaggtcgc tgtaagaagt gtagccctgg ctatcagcag gtgggctcca agtgtctcga
     1021 tgtggatgag tgtgagacag aggtgtgtcc gggagagaac aagcagtgtg aaaacaccga
     1081 gggcggttat cgctgcatct gtgccgaggg ctacaagcag atggaaggca tctgtgtgaa
     1141 ggagcagatc ccagagtcag caggcttctt ctcagagatg acagaagacg agttggtggt
     1201 gctgcagcag atgttctttg gcatcatcat ctgtgcactg gccacgctgg ctgctaaggg
     1261 cgacttggtg ttcaccgcca tcttcattgg ggctgtggcg gccatgactg gctactggtt
     1321 gtcagagcgc agtgaccgtg tgctggaggg cttcatcaag ggcagataat cgcggccacc
     1381 acctgtagga cctcctccca cccacgctgc ccccagagct tgggctgccc tcctgctgga
     1441 cactcaggac agcttggttt atttttgaga gtggggtaag cacccctacc tgccttacag
     1501 agcagcccag gtacccaggc ccgggcagac aaggcccctg gggtaaaaag tagccctgaa
     1561 ggtggatacc atgagctctt cacctggcgg ggactggcag gcttcacaat gtgtgaattt
     1621 caaaagtttt tccttaatgg tggctgctag agctttggcc cctgcttagg attaggtggt
     1681 cctcacaggg gtggggccat cacagctccc tcctgccagc tgcatgctgc cagttcctgt
     1741 tctgtgttca ccacatcccc acaccccatt gccacttatt tattcatctc aggaaataaa
     1801 gaaaggtctt ggaaagttaa aaggcatcag tcttactacc tgtcccacca cccccacctt
     1861 agggaaatgt cctagaatcc tgggaaattg agggcttctt tgatggtgag tggagaaaag
     1921 atagaggaga aggttgcccc tgaagtgctg ttaggagaag gaggatagag gaatcagcct
     1981 taggagggtt ccatgccagc tgtcatttgg caaaggaccc tggacagatg acttttgcct
     2041 ctgaacttca ctcttctctt tcctcaaatg ggcttcataa tgctttccac tcaggcttaa
     2101 catgagaatt aaatgaggtg acaaatgtga agacctggac agtacacaac agatattcaa
     2161 taaaagtgtg gtcgccatta tgaccagagc ctccaa
//
