LOCUS       NM_015439               1247 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens coiled-coil domain containing 28A (CCDC28A),
            transcript variant 1, mRNA.
ACCESSION   NM_015439
VERSION     NM_015439.3
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 1247)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1247)
  AUTHORS   Petit,A., Ragu,C., Soler,G., Ottolenghi,C., Schluth,C.,
            Radford-Weiss,I., Schneider-Maunoury,S., Callebaut,I., Dastugue,N.,
            Drabkin,H.A., Bernard,O.A., Romana,S. and Penard-Lacronique,V.
  TITLE     Functional analysis of the NUP98-CCDC28A fusion protein
  JOURNAL   Haematologica 97 (3), 379-387 (2012)
   PUBMED   22058212
  REMARK    GeneRIF: the recurrent NUP98-CCDC28A is an oncogene that induces a
            rapid and transplantable myeloid neoplasm in recipient mice. They
            also provide additional evidence for an alternative leukemogenic
            mechanism for NUP98 oncogenes.
REFERENCE   3  (bases 1 to 1247)
  AUTHORS   Tosi,S., Ballabio,E., Teigler-Schlegel,A., Boultwood,J., Bruch,J.
            and Harbott,J.
  TITLE     Characterization of 6q abnormalities in childhood acute myeloid
            leukemia and identification of a novel t(6;11)(q24.1;p15.5)
            resulting in a NUP98-C6orf80 fusion in a case of acute
            megakaryoblastic leukemia
  JOURNAL   Genes Chromosomes Cancer 44 (3), 225-232 (2005)
   PUBMED   16028218
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY167571.1 and AL121834.20.
            
            On Mar 19, 2020 this sequence version replaced NM_015439.2.
            
            Summary: This gene encodes a coiled-coil domain containing protein.
            Although the specific function of this gene has not yet been
            determined, this gene is a known translocation partner of
            nucleoporin 98 in acute leukemias. The resulting fusion gene
            produces a nucleoporin 98-coiled-coil domain-containing protein 28A
            chimeric protein which may be involved in promoting
            myeloproliferative neoplasms. [provided by RefSeq, Jan 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC108717.1, AJ420568.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000617445.5/ ENSP00000482946.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AY167571.1         268-298
            32-32               AL121834.20        1659-1659
            33-903              AY167571.1         300-1170
            904-904             AL121834.20        20835-20835
            905-1247            AY167571.1         1172-1514
FEATURES             Location/Qualifiers
     source          1..1247
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.1"
     gene            1..1247
                     /gene="CCDC28A"
                     /gene_synonym="C6orf80; CCRL1AP"
                     /note="coiled-coil domain containing 28A"
                     /db_xref="GeneID:25901"
                     /db_xref="HGNC:HGNC:21098"
                     /db_xref="MIM:615353"
     exon            1..134
                     /gene="CCDC28A"
                     /gene_synonym="C6orf80; CCRL1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            135..334
                     /gene="CCDC28A"
                     /gene_synonym="C6orf80; CCRL1AP"
                     /inference="alignment:Splign:2.1.0"
     CDS             177..731
                     /gene="CCDC28A"
                     /gene_synonym="C6orf80; CCRL1AP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     chemokine C-C motif receptor-like 1 adjacent; coiled-coil
                     domain-containing protein 28A"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 28A
                     isoform 1"
                     /protein_id="NP_056254.2"
                     /db_xref="CCDS:CCDS5192.2"
                     /db_xref="GeneID:25901"
                     /db_xref="HGNC:HGNC:21098"
                     /db_xref="MIM:615353"
                     /translation="MEERKVKRRSPKSFSAHCTQVVNAKKNAIPVSKSTGFSNPASQS
                     TSQRPKLKRVMKEKTKPQGGEGKGAQSTPIQHSFLTDVSDVQEMERGLLSLLNDFHSG
                     KLQAFGNECSIEQMEHVRGMQEKLARLNLELYGELEELPEDKRKTASDSNLDRLLSDL
                     EELNSSIQKLHLADAQDVPNTSAS"
     exon            335..498
                     /gene="CCDC28A"
                     /gene_synonym="C6orf80; CCRL1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            499..653
                     /gene="CCDC28A"
                     /gene_synonym="C6orf80; CCRL1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            654..676
                     /gene="CCDC28A"
                     /gene_synonym="C6orf80; CCRL1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            677..1247
                     /gene="CCDC28A"
                     /gene_synonym="C6orf80; CCRL1AP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1224..1229
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC28A"
                     /gene_synonym="C6orf80; CCRL1AP"
                     /note="hexamer: AATAAA"
     polyA_site      1247
                     /gene="CCDC28A"
                     /gene_synonym="C6orf80; CCRL1AP"
                     /note="major polyA site"
ORIGIN      
        1 gtaaacaaac ggagctgcgg aggagcgggt cccgggatgt gaccggggct ctgcttgtgg
       61 ctgcggcggt ggcttctgag gctgtcgggt ctttgcgggt tgcggaaggg ggccccaata
      121 cccttcttct tcaggtctta agaagctggc cgtggtgcaa taaggaactt aaaacaatgg
      181 aagagcggaa agtgaagagg aggagtccta agtcttttag tgcccactgt actcaggttg
      241 tcaatgccaa aaaaaatgcc attccagtga gtaaaagcac agggttttca aatcctgcat
      301 cacagtcaac ttcacagcga ccaaagttaa aaagagtgat gaaagaaaag accaaacctc
      361 agggtggaga gggcaaaggc gctcagtcaa ctccgatcca gcactccttc ctcactgatg
      421 tctcagatgt tcaggagatg gagagagggc tgctcagtct tttgaatgat ttccactctg
      481 gaaaacttca agcatttgga aatgaatgtt ccattgaaca gatggaacat gttcggggaa
      541 tgcaggagaa attagctcgc ttgaatttgg agctctatgg ggagttagag gaacttcctg
      601 aggataagag aaaaacagcc agtgactcca atctggatag gcttctgtca gatttagaag
      661 aattgaattc ttccatacaa aaactccatt tggcagatgc acaagatgtt ccaaatactt
      721 ctgctagcta aaatgaaatg tagtttgctt tcttgtgatt tgaagagaag cagcagtctt
      781 tacttttcca gccaaatcca gtagcagaat catcttccac aacaaggaat taaagtaatt
      841 aaagtgcaag ttcaatgatc gttttcactt actgctttta gtaaatgtga ctcgctgtaa
      901 ttcaccataa ctggaggcct aggccttgtt gaaggcttca tcaggaaatg tgacgcagag
      961 attgtgctgc tgtgcttcat attgttgcct tatgggatta tacttgaaat gcattgtgct
     1021 gatgttcttg acagggcgga gggatttctc tttcctgagc tcaccaaact tattccagtg
     1081 ttgatcgcaa gctgttgatg cacaggcgtc ttgtggcaag cccagcttca gtttatgtta
     1141 gacaatcagt acacatgctg gtgtgttttc caatggccag tgataagaaa ttaaataagt
     1201 atttgtgaga tttgctattt tttaataaag taattgtttt aaattaa
//
