LOCUS       NM_175886               1077 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens phosphoribosyl pyrophosphate synthetase 1 like 1
            (PRPS1L1), mRNA.
ACCESSION   NM_175886 XM_353728
VERSION     NM_175886.3
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 1077)
  AUTHORS   Sabater-Lleal,M., Huang,J., Chasman,D., Naitza,S., Dehghan,A.,
            Johnson,A.D., Teumer,A., Reiner,A.P., Folkersen,L., Basu,S.,
            Rudnicka,A.R., Trompet,S., Malarstig,A., Baumert,J., Bis,J.C.,
            Guo,X., Hottenga,J.J., Shin,S.Y., Lopez,L.M., Lahti,J., Tanaka,T.,
            Yanek,L.R., Oudot-Mellakh,T., Wilson,J.F., Navarro,P.,
            Huffman,J.E., Zemunik,T., Redline,S., Mehra,R., Pulanic,D.,
            Rudan,I., Wright,A.F., Kolcic,I., Polasek,O., Wild,S.H.,
            Campbell,H., Curb,J.D., Wallace,R., Liu,S., Eaton,C.B.,
            Becker,D.M., Becker,L.C., Bandinelli,S., Raikkonen,K., Widen,E.,
            Palotie,A., Fornage,M., Green,D., Gross,M., Davies,G., Harris,S.E.,
            Liewald,D.C., Starr,J.M., Williams,F.M., Grant,P.J., Spector,T.D.,
            Strawbridge,R.J., Silveira,A., Sennblad,B., Rivadeneira,F.,
            Uitterlinden,A.G., Franco,O.H., Hofman,A., van Dongen,J.,
            Willemsen,G., Boomsma,D.I., Yao,J., Swords Jenny,N.,
            Haritunians,T., McKnight,B., Lumley,T., Taylor,K.D., Rotter,J.I.,
            Psaty,B.M., Peters,A., Gieger,C., Illig,T., Grotevendt,A.,
            Homuth,G., Volzke,H., Kocher,T., Goel,A., Franzosi,M.G.,
            Seedorf,U., Clarke,R., Steri,M., Tarasov,K.V., Sanna,S.,
            Schlessinger,D., Stott,D.J., Sattar,N., Buckley,B.M., Rumley,A.,
            Lowe,G.D., McArdle,W.L., Chen,M.H., Tofler,G.H., Song,J.,
            Boerwinkle,E., Folsom,A.R., Rose,L.M., Franco-Cereceda,A.,
            Teichert,M., Ikram,M.A., Mosley,T.H., Bevan,S., Dichgans,M.,
            Rothwell,P.M., Sudlow,C.L., Hopewell,J.C., Chambers,J.C.,
            Saleheen,D., Kooner,J.S., Danesh,J., Nelson,C.P., Erdmann,J.,
            Reilly,M.P., Kathiresan,S., Schunkert,H., Morange,P.E.,
            Ferrucci,L., Eriksson,J.G., Jacobs,D., Deary,I.J., Soranzo,N.,
            Witteman,J.C., de Geus,E.J., Tracy,R.P., Hayward,C., Koenig,W.,
            Cucca,F., Jukema,J.W., Eriksson,P., Seshadri,S., Markus,H.S.,
            Watkins,H., Samani,N.J., Wallaschofski,H., Smith,N.L., Tregouet,D.,
            Ridker,P.M., Tang,W., Strachan,D.P., Hamsten,A. and O'Donnell,C.J.
  CONSRTM   VTE Consortium; STROKE Consortium; Wellcome Trust Case Control
            Consortium 2 (WTCCC2); C4D Consortium; CARDIoGRAM Consortium
  TITLE     Multiethnic meta-analysis of genome-wide association studies in
            >100 000 subjects identifies 23 fibrinogen-associated Loci but no
            strong evidence of a causal association between circulating
            fibrinogen and cardiovascular disease
  JOURNAL   Circulation 128 (12), 1310-1324 (2013)
   PUBMED   23969696
REFERENCE   2  (bases 1 to 1077)
  AUTHORS   Ali,G., Lee,K., Andrade,P.B., Basit,S., Santos-Cortez,R.L.,
            Chen,L., Jelani,M., Ansar,M., Ahmad,W. and Leal,S.M.
  TITLE     Novel autosomal recessive nonsyndromic hearing impairment locus
            DFNB90 maps to 7p22.1-p15.3
  JOURNAL   Hum Hered 71 (2), 106-112 (2011)
   PUBMED   21734401
  REMARK    GeneRIF: Data indicate taht candidate genes ACTB, BZW, OCM, MACC1,
            NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region,
            were sequenced and no potentially causal variants were identified.
REFERENCE   3  (bases 1 to 1077)
  AUTHORS   Taira,M., Iizasa,T., Shimada,H., Kudoh,J., Shimizu,N. and
            Tatibana,M.
  TITLE     A human testis-specific mRNA for phosphoribosylpyrophosphate
            synthetase that initiates from a non-AUG codon
  JOURNAL   J Biol Chem 265 (27), 16491-16497 (1990)
   PUBMED   2168892
  REMARK    GeneRIF: Translation initiates from a non-AUG (ACG) start codon.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M57423.1 and AC080080.5.
            
            On Nov 23, 2018 this sequence version replaced NM_175886.2.
            
            Summary: This intronless gene is specifically expressed in the
            testis, and encodes a protein that is highly homologous to the two
            subunits of phosphoribosylpyrophosphate synthetase encoded by human
            X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine,
            purine or pyridine bases to the corresponding ribonucleoside
            monophosphates. In vitro transcription/translation and
            site-directed mutagenesis studies indicate that translation of this
            mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript is intronless :: ERR279842.3444.1, SRR5189667.30269.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000506618.5/ ENSP00000424595.3
            non-AUG initiation codon :: PMID: 2168892
            RefSeq Select criteria   :: based on single protein-coding
                                        transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1073              M57423.1           18-1090
            1074-1077           AC080080.5         103678-103681       c
FEATURES             Location/Qualifiers
     source          1..1077
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.1"
     gene            1..1077
                     /gene="PRPS1L1"
                     /gene_synonym="PRPS1; PRPS3; PRPSL; PRS-III"
                     /note="phosphoribosyl pyrophosphate synthetase 1 like 1"
                     /db_xref="GeneID:221823"
                     /db_xref="HGNC:HGNC:9463"
                     /db_xref="MIM:611566"
     exon            1..1077
                     /gene="PRPS1L1"
                     /gene_synonym="PRPS1; PRPS3; PRPSL; PRS-III"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..1021
                     /gene="PRPS1L1"
                     /gene_synonym="PRPS1; PRPS3; PRPSL; PRS-III"
                     /EC_number="2.7.6.1"
                     /exception="alternative start codon"
                     /note="non-AUG (ACG) translation initiation codon;
                     phosphoribosylpyrophosphate synthetase subunit III;
                     ribose-phosphate diphosphokinase catalytic chain III;
                     ribose-phosphate pyrophosphokinase III; PRPS1-like 1;
                     phosphoribosyl pyrophosphate synthase III; phosphoribosyl
                     pyrophosphate synthase 1-like 1"
                     /codon_start=1
                     /transl_except=(pos:65..67,aa:Met)
                     /product="ribose-phosphate pyrophosphokinase 3"
                     /protein_id="NP_787082.1"
                     /db_xref="CCDS:CCDS47552.1"
                     /db_xref="GeneID:221823"
                     /db_xref="HGNC:HGNC:9463"
                     /db_xref="MIM:611566"
                     /translation="MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEI
                     DESVRGEDVYIVQSGCGEINDSLMELLIMINACKIASASRVTAVIPCFPYARQDKKDK
                     SRSPISAKLVANMLSIAGADHIITMDLHASQIQGFFDIPVDNLYAEPTVLKWIRENIP
                     EWKNCIIVSPDAGGAKRVTSIADQLNVDFALIHKERKKANEVDCIVLVGDVNDRVAIL
                     VDDMADTCVTICLAADKLLSAGATRVYAILTHGIFSGPAISRINTACFEAVVVTNTIP
                     QDEKMKHCSKIRVIDISMILAEAIRRTHNGESVSYLFSHVPL"
     regulatory      1057..1062
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRPS1L1"
                     /gene_synonym="PRPS1; PRPS3; PRPSL; PRS-III"
                     /note="hexamer: AATAAG"
     polyA_site      1077
                     /gene="PRPS1L1"
                     /gene_synonym="PRPS1; PRPS3; PRPSL; PRS-III"
                     /note="major polyA site"
ORIGIN      
        1 acttccgttc cagcctcagc ggcagctgga tcgctcgacg gagtgcctct ggtagttggc
       61 caagacgccg aatatcaaaa tcttcagcgg cagctcccac caggacttat cccagaaaat
      121 tgctgaccgc ctgggcctgg agctaggcaa ggtggtgact aagaaattca gcaaccagga
      181 gacctgcgtg gaaattgatg agagtgtgcg tggagaggat gtctacatcg ttcagagtgg
      241 ttgtggcgaa atcaacgaca gtctaatgga gcttttgatc atgattaatg cctgcaagat
      301 tgcttcagct agccgagtta ctgcagtcat cccatgcttc ccttatgccc gacaggataa
      361 gaaggataag agccggtccc caatctctgc caagcttgtt gcaaatatgc tctctatagc
      421 aggtgcggat catatcatca ccatggacct acatgcttct caaattcagg gcttttttga
      481 tatcccagta gacaacttgt atgcagagcc aactgtcctg aagtggataa gggagaatat
      541 ccctgagtgg aagaactgca ttattgtctc gccagatgct ggtggagcta aaagagtgac
      601 ctccattgca gaccagttga atgtggactt tgctttgatt cataaagaac ggaagaaggc
      661 caatgaagtg gactgcatag tgctagtggg agatgtgaat gatcgtgtgg ctatccttgt
      721 agatgacatg gcagacactt gtgttacaat ctgcctcgca gctgacaaac ttctctcagc
      781 tggagcaacc agagtttatg ctatcttgac tcatggaatc ttttctggcc cagccatttc
      841 tcgcatcaac actgcatgct ttgaagcagt ggtagtcacc aataccatac ctcaagatga
      901 gaagatgaag cattgctcca aaatacgagt aattgacatc tccatgatcc ttgcagaagc
      961 cataaggaga actcataatg gggaatctgt ttcctacctg ttcagccatg ttcctttata
     1021 acagaataac ttctaggtta tgctatttta aaataaaata agattaataa aaacaaa
//
