LOCUS       NM_001017361            1037 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens KH domain containing 3 like, subcortical maternal
            complex member (KHDC3L), mRNA.
ACCESSION   NM_001017361 XM_087901
VERSION     NM_001017361.3
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 1037)
  AUTHORS   Rath,A., Sethi,P., Jena,S.K. and Mitra,S.
  TITLE     Familial recurrent molar pregnancy: positive for KHDC3L gene
            mutation
  JOURNAL   BMJ Case Rep 16 (11), e254435 (2023)
   PUBMED   37918946
  REMARK    GeneRIF: Familial recurrent molar pregnancy: positive for KHDC3L
            gene mutation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1037)
  AUTHORS   Pignata,L., Cecere,F., Verma,A., Hay Mele,B., Monticelli,M.,
            Acurzio,B., Giaccari,C., Sparago,A., Hernandez Mora,J.R.,
            Monteagudo-Sanchez,A., Esteller,M., Pereda,A., Tenorio-Castano,J.,
            Palumbo,O., Carella,M., Prontera,P., Piscopo,C., Accadia,M.,
            Lapunzina,P., Cubellis,M.V., de Nanclares,G.P., Monk,D., Riccio,A.
            and Cerrato,F.
  TITLE     Novel genetic variants of KHDC3L and other members of the
            subcortical maternal complex associated with Beckwith-Wiedemann
            syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting
            disturbances
  JOURNAL   Clin Epigenetics 14 (1), 71 (2022)
   PUBMED   35643636
  REMARK    GeneRIF: Novel genetic variants of KHDC3L and other members of the
            subcortical maternal complex associated with Beckwith-Wiedemann
            syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting
            disturbances.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1037)
  AUTHORS   Fatemi,N., Ray,P.F., Ramezanali,F., Shahani,T., Amiri-Yekta,A.,
            Kherraf,Z.E., Cazin,C., Almadani,N., Varkiani,M., Sarmadi,S.,
            Sodeifi,N., Gourabi,H., Biglari,A. and Totonchi,M.
  TITLE     KH domain containing 3 like (KHDC3L) frame-shift mutation causes
            both recurrent pregnancy loss and hydatidiform mole
  JOURNAL   Eur J Obstet Gynecol Reprod Biol 259, 100-104 (2021)
   PUBMED   33639414
  REMARK    GeneRIF: KH domain containing 3 like (KHDC3L) frame-shift mutation
            causes both recurrent pregnancy loss and hydatidiform mole.
REFERENCE   4  (bases 1 to 1037)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1037)
  AUTHORS   Zhang,W., Chen,Z., Zhang,D., Zhao,B., Liu,L., Xie,Z., Yao,Y. and
            Zheng,P.
  TITLE     KHDC3L mutation causes recurrent pregnancy loss by inducing genomic
            instability of human early embryonic cells
  JOURNAL   PLoS Biol 17 (10), e3000468 (2019)
   PUBMED   31609975
  REMARK    GeneRIF: The study specified KHDC3L as a new recurrent pregnancy
            loss risk gene, and recognized its critical function in DNA damage
            repair pathways.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1037)
  AUTHORS   Fallahian,M., Sebire,N.J., Savage,P.M., Seckl,M.J. and Fisher,R.A.
  TITLE     Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole
            phenotype on digynic triploid conceptions
  JOURNAL   Hum Mutat 34 (2), 301-308 (2013)
   PUBMED   23125094
  REMARK    GeneRIF: Both NLRP7 and KHDC3L are involved in setting or
            maintaining the appropriate imprint within the ovum in women with
            familial recurrent hydatidiform mole.
REFERENCE   7  (bases 1 to 1037)
  AUTHORS   Andreasen,L., Bolund,L., Niemann,I., Hansen,E.S. and Sunde,L.
  TITLE     Mosaic moles and non-familial biparental moles are not caused by
            mutations in NLRP7, NLRP2 or C6orf221
  JOURNAL   Mol Hum Reprod 18 (12), 593-598 (2012)
   PUBMED   22909446
  REMARK    GeneRIF: Observations suggest that although NLRP7 and C6orf221
            mutations are related to diploid biparental FRHMs, neither of these
            genes, nor NLRP2, are related to diploid HMs with biparental
            contributions to the molar genome.
REFERENCE   8  (bases 1 to 1037)
  AUTHORS   Parry,D.A., Logan,C.V., Hayward,B.E., Shires,M., Landolsi,H.,
            Diggle,C., Carr,I., Rittore,C., Touitou,I., Philibert,L.,
            Fisher,R.A., Fallahian,M., Huntriss,J.D., Picton,H.M., Malik,S.,
            Taylor,G.R., Johnson,C.A., Bonthron,D.T. and Sheridan,E.G.
  TITLE     Mutations causing familial biparental hydatidiform mole implicate
            c6orf221 as a possible regulator of genomic imprinting in the human
            oocyte
  JOURNAL   Am J Hum Genet 89 (3), 451-458 (2011)
   PUBMED   21885028
  REMARK    GeneRIF: Mutations causing familial biparental hydatidiform mole
            implicate c6orf221 as a possible regulator of genomic imprinting in
            the human oocyte.
REFERENCE   9  (bases 1 to 1037)
  AUTHORS   Pierre,A., Gautier,M., Callebaut,I., Bontoux,M., Jeanpierre,E.,
            Pontarotti,P. and Monget,P.
  TITLE     Atypical structure and phylogenomic evolution of the new eutherian
            oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family
  JOURNAL   Genomics 90 (5), 583-594 (2007)
   PUBMED   17913455
  REMARK    GeneRIF: This paper states that ECAT1 is not found in rodents.
REFERENCE   10 (bases 1 to 1037)
  AUTHORS   Mitsui,K., Tokuzawa,Y., Itoh,H., Segawa,K., Murakami,M.,
            Takahashi,K., Maruyama,M., Maeda,M. and Yamanaka,S.
  TITLE     The homeoprotein Nanog is required for maintenance of pluripotency
            in mouse epiblast and ES cells
  JOURNAL   Cell 113 (5), 631-642 (2003)
   PUBMED   12787504
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC019205.4, AB211062.1 and
            AI638315.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001017361.2.
            
            Summary: The protein encoded by this gene belongs to the KHDC1
            family, members of which contain an atypical KH domain that may not
            bind RNA like canonical KH domains. This gene is specifically
            expressed in the oocytes, and recent studies suggest that it may
            function as a regulator of genomic imprinting in the oocyte.
            Mutations in this gene are associated with recurrent biparental
            complete hydatidiform mole. [provided by RefSeq, Dec 2011].
            
            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 :: AB211062.1, BC132844.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370367.4/ ENSP00000359392.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AC019205.4         80885-80903         c
            20-904              AB211062.1         1-885
            905-1037            AI638315.1         10-142              c
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     gene            1..1037
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="KH domain containing 3 like, subcortical maternal
                     complex member"
                     /db_xref="GeneID:154288"
                     /db_xref="HGNC:HGNC:33699"
                     /db_xref="MIM:611687"
     exon            1..241
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..726
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="ES cell-associated transcript 1 protein; KHDC3-like
                     protein"
                     /codon_start=1
                     /product="KH domain-containing protein 3"
                     /protein_id="NP_001017361.1"
                     /db_xref="CCDS:CCDS34484.1"
                     /db_xref="GeneID:154288"
                     /db_xref="HGNC:HGNC:33699"
                     /db_xref="MIM:611687"
                     /translation="MDAPRRFPTLVQLMQPKAMPVEVLGHLPKRFSWFHSEFLKNPKV
                     VRLEVWLVEKIFGRGGERIPHVQGMSQILIHVNRLDPNGEAEILVFGRPSYQEDTIKM
                     IMNLADYHRQLQAKGSGKALAQDVATQKAETQRSSIEVREAGTQRSVEVREAGTQRSV
                     EVQEVGTQGSPVEVQEAGTQQSLQAANKSGTQRSPEAASKAVTQRFREDARDPVTRL"
     exon            242..421
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /inference="alignment:Splign:2.1.0"
     exon            422..1037
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      872..877
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="hexamer: AATAAA"
     polyA_site      893
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
     regulatory      1019..1024
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="hexamer: AATAAA"
     polyA_site      1037
                     /gene="KHDC3L"
                     /gene_synonym="C6orf221; ECAT1; HYDM2"
                     /note="major polyA site"
ORIGIN      
        1 ctagtctccc agctccagct cggcctttgg gtttgctgtg gtgtccttgt ctcctgcagg
       61 accggccgca gcatggacgc tcccaggcgg tttccgacgc tcgtgcaact gatgcagcca
      121 aaagcaatgc cagtggaggt gctcggtcac ctccctaagc ggttctcctg gttccactct
      181 gagttcctga agaatccgaa ggtagttcgc cttgaggttt ggctggtgga aaagatcttc
      241 ggccggggcg gagaacgcat cccgcacgtc cagggtatgt cccaaatctt gattcacgtg
      301 aatcgattgg accctaacgg cgaggctgag atcttggtat ttgggaggcc ttcttaccag
      361 gaggacacaa tcaagatgat catgaacctg gctgactatc accgccagct ccaggcgaaa
      421 ggctcaggaa aggccctcgc ccaggatgtc gccactcaga aggccgagac ccagcggtct
      481 tcaatagaag tccgggaggc cgggacgcag cgttcggtgg aggtccggga ggccgggacc
      541 cagcgttcgg tggaagtcca ggaggtcggg acacagggtt ctccggtgga ggtgcaggag
      601 gccgggaccc agcagtctct ccaggctgcc aacaagtcgg ggacccagcg atcccccgaa
      661 gctgccagca aggcagtgac ccagcggttt cgcgaggatg cccgggaccc agttactaga
      721 ttatgaaggc atctcaggcc ctggagccag agccagtcag gggttaaagt gaaagcccgt
      781 atttccgccc agaagctggg gttggggaga ggatgtggat tttttgtttt accctttctg
      841 ttgcatggtt gcaaacacaa acttgagttc taataaagaa ttgcaaagtg gaagcccgcc
      901 ccccgcctcc cccccgcctc acttaagtcc aggaagctgg ggtggcgagg aaggatgatg
      961 tggattgttt ttgttttaca ccttctgttg aatggttgcc aacacaaact tgagttctaa
     1021 taaataattg catttcc
//
