LOCUS       NM_000946               1423 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens DNA primase subunit 1 (PRIM1), mRNA.
ACCESSION   NM_000946
VERSION     NM_000946.3
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 1423)
  AUTHORS   Toskov,V., Kaiser-Labusch,P., Lee-Kirsch,M.A., Ehl,S. and
            Wegehaupt,O.
  CONSRTM   PRIM1 study group
  TITLE     Variable Syndromic Immunodeficiency in Patients with Biallelic
            PRIM1 Mutations
  JOURNAL   J Clin Immunol 44 (6), 129 (2024)
   PUBMED   38773012
  REMARK    GeneRIF: Variable Syndromic Immunodeficiency in Patients with
            Biallelic PRIM1 Mutations.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1423)
  AUTHORS   Schimmel,J., Munoz-Subirana,N., Kool,H., van Schendel,R. and
            Tijsterman,M.
  TITLE     Small tandem DNA duplications result from CST-guided Pol
            alpha-primase action at DNA break termini
  JOURNAL   Nat Commun 12 (1), 4843 (2021)
   PUBMED   34376693
  REMARK    GeneRIF: Small tandem DNA duplications result from CST-guided Pol
            alpha-primase action at DNA break termini.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1423)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1423)
  AUTHORS   Zhang,Y., Li,L., Liu,R. and Zeng,C.
  TITLE     DNA Primase Subunit 1 Expression in Hepatocellular Carcinoma and
            Its Clinical Implication
  JOURNAL   Biomed Res Int 2020, 9689312 (2020)
   PUBMED   32908930
  REMARK    GeneRIF: DNA Primase Subunit 1 Expression in Hepatocellular
            Carcinoma and Its Clinical Implication.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1423)
  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   6  (bases 1 to 1423)
  AUTHORS   Schneider,A., Smith,R.W., Kautz,A.R., Weisshart,K., Grosse,F. and
            Nasheuer,H.P.
  TITLE     Primase activity of human DNA polymerase alpha-primase. Divalent
            cations stabilize the enzyme activity of the p48 subunit
  JOURNAL   J Biol Chem 273 (34), 21608-21615 (1998)
   PUBMED   9705292
REFERENCE   7  (bases 1 to 1423)
  AUTHORS   Cloutier,S., Hamel,H., Champagne,M. and Yotov,W.V.
  TITLE     Mapping of the human DNA primase 1 (PRIM1) to chromosome 12q13
  JOURNAL   Genomics 43 (3), 398-401 (1997)
   PUBMED   9268648
REFERENCE   8  (bases 1 to 1423)
  AUTHORS   Shiratori,A., Okumura,K., Nogami,M., Taguchi,H., Onozaki,T.,
            Inoue,T., Ando,T., Shibata,T., Izumi,M., Miyazawa,H. et al.
  TITLE     Assignment of the 49-kDa (PRIM1) and 58-kDa (PRIM2A and PRIM2B)
            subunit genes of the human DNA primase to chromosome bands 1q44 and
            6p11.1-p12
  JOURNAL   Genomics 28 (2), 350-353 (1995)
   PUBMED   8530050
REFERENCE   9  (bases 1 to 1423)
  AUTHORS   Stadlbauer,F., Brueckner,A., Rehfuess,C., Eckerskorn,C.,
            Lottspeich,F., Forster,V., Tseng,B.Y. and Nasheuer,H.P.
  TITLE     DNA replication in vitro by recombinant
            DNA-polymerase-alpha-primase
  JOURNAL   Eur J Biochem 222 (3), 781-793 (1994)
   PUBMED   8026492
REFERENCE   10 (bases 1 to 1423)
  AUTHORS   Wang,T.S., Hu,S.Z. and Korn,D.
  TITLE     DNA primase from KB cells. Characterization of a primase activity
            tightly associated with immunoaffinity-purified DNA
            polymerase-alpha
  JOURNAL   J Biol Chem 259 (3), 1854-1865 (1984)
   PUBMED   6693436
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005266.1 and AA761682.1.
            
            On Nov 22, 2018 this sequence version replaced NM_000946.2.
            
            Summary: The replication of DNA in eukaryotic cells is carried out
            by a complex chromosomal replication apparatus, in which DNA
            polymerase alpha and primase are two key enzymatic components.
            Primase, which is a heterodimer of a small subunit and a large
            subunit, synthesizes small RNA primers for the Okazaki fragments
            made during discontinuous DNA replication. The protein encoded by
            this gene is the small, 49 kDa primase subunit. [provided by
            RefSeq, Jul 2008].
            
            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 :: AK223391.1, X74330.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338193.11/ ENSP00000350491.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1380              BC005266.1         13-1392
            1381-1423           AA761682.1         10-52               c
FEATURES             Location/Qualifiers
     source          1..1423
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..1423
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /note="DNA primase subunit 1"
                     /db_xref="GeneID:5557"
                     /db_xref="HGNC:HGNC:9369"
                     /db_xref="MIM:176635"
     exon            1..128
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1288
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /EC_number="2.7.7.102"
                     /note="primase p49 subunit; DNA primase subunit 48;
                     primase, DNA, polypeptide 1 (49kDa); DNA primase 1;
                     primase polypeptide 1, 49kDa; DNA primase 49 kDa subunit;
                     primase (DNA) subunit 1"
                     /codon_start=1
                     /product="DNA primase small subunit"
                     /protein_id="NP_000937.1"
                     /db_xref="CCDS:CCDS44926.1"
                     /db_xref="GeneID:5557"
                     /db_xref="HGNC:HGNC:9369"
                     /db_xref="MIM:176635"
                     /translation="METFDPTELPELLKLYYRRLFPYSQYYRWLNYGGVIKNYFQHRE
                     FSFTLKDDIYIRYQSFNNQSDLEKEMQKMNPYKIDIGAVYSHRPNQHNTVKLGAFQAQ
                     EKELVFDIDMTDYDDVRRCCSSADICPKCWTLMTMAIRIIDRALKEDFGFKHRLWVYS
                     GRRGVHCWVCDESVRKLSSAVRSGIVEYLSLVKGGQDVKKKVHLSEKIHPFIRKSINI
                     IKKYFEEYALVNQDILENKESWDKILALVPETIHDELQQSFQKSHNSLQRWEHLKKVA
                     SRYQNNIKNDKYGPWLEWEIMLQYCFPRLDINVSKGINHLLKSPFSVHPKTGRISVPI
                     DLQKVDQFDPFTVPTISFICRELDAISTNEEEKEENEAESDVKHRTRDYKKTSLAPYV
                     KVFEHFLENLDKSRKGELLKKSDLQKDF"
     exon            129..286
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     exon            287..393
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     exon            394..467
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     exon            468..604
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     exon            605..663
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     exon            664..773
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     exon            774..865
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     exon            866..1007
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1077
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1169
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1268
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     exon            1269..1423
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1361..1366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /note="hexamer: AATAAA"
     polyA_site      1381
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /note="major polyA site"
     regulatory      1401..1406
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
                     /note="hexamer: AGTAAA"
     polyA_site      1423
                     /gene="PRIM1"
                     /gene_synonym="p49; PDIL"
ORIGIN      
        1 cttaccgtgg cgagttccgc gctcaatgga gacgtttgac cccaccgagc tgcccgagct
       61 gcttaaactt tattaccgga ggctctttcc ctactctcag tactatcgct ggctcaacta
      121 cggtggagtg ataaagaatt actttcaaca ccgtgaattt tcattcacat tgaaagatga
      181 tatttacatt cgctaccaat ccttcaacaa ccagagtgat ctggaaaagg agatgcagaa
      241 aatgaatcca tacaagattg atataggcgc agtatattct cacagaccca atcaacacaa
      301 tacagtgaag ctgggagctt tccaggctca ggaaaaagaa ctggtatttg acattgacat
      361 gacagactat gacgatgtga ggagatgttg tagttctgca gacatatgtc ctaagtgctg
      421 gaccctcatg acaatggcca tacgcatcat tgacagagca ttgaaggagg actttggatt
      481 taagcatcgt ctctgggtat attctggaag gagaggtgtt cattgttggg tctgtgatga
      541 atcagttaga aaactgtctt ctgcagtacg ttctgggata gttgagtatt tgagccttgt
      601 aaagggtggt caagacgtta aaaagaaagt tcacctaagt gaaaaaattc acccttttat
      661 cagaaaatct ataaacataa taaaaaaata ctttgaagaa tatgccttgg ttaatcaaga
      721 tattctcgaa aataaagaaa gctgggataa gattttagcc cttgttcctg aaacaattca
      781 tgatgaactt caacaaagct tccaaaagtc tcacaattca cttcagcgtt gggagcactt
      841 gaagaaagta gccagcagat atcagaataa catcaaaaat gacaaatatg gaccctggct
      901 ggagtgggag attatgctcc agtactgttt tccacggctg gatatcaatg tcagcaaagg
      961 aatcaatcat ctactgaaga gcccttttag tgttcatcct aaaacaggtc gcatatctgt
     1021 gcctattgat ttgcagaaag tggaccagtt tgatccattt actgttccga ccataagctt
     1081 catctgccgt gaattggatg ccatttccac taatgaagag gaaaaagagg agaatgaagc
     1141 tgaatctgat gtcaaacata gaaccagaga ttataagaag accagtctag caccttatgt
     1201 gaaagttttt gaacattttc ttgaaaatct ggataaatcc cgaaaaggag aacttcttaa
     1261 gaagagtgat ttacaaaaag atttctgaag acagagctcc tcaaaccatt gtggatatct
     1321 tctgccttca accacagatc aaatacttca agagccattt aataaatatg gcagaactat
     1381 atatgtgtct taaacctcaa agtaaatttt ccttgagaaa taa
//
