LOCUS       NM_030798               2309 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens RCC1 like (RCC1L), transcript variant 1, mRNA.
ACCESSION   NM_030798
VERSION     NM_030798.5
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 2309)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2309)
  AUTHORS   Proust,B., Radic,M., Vidacek,N.S., Cottet,C., Attia,S.,
            Lamarche,F., Ackar,L., Mikulcic,V.G., Tokarska-Schlattner,M.,
            Cetkovic,H., Schlattner,U. and Bosnar,M.H.
  TITLE     NME6 is a phosphotransfer-inactive, monomeric NME/NDPK family
            member and functions in complexes at the interface of mitochondrial
            inner membrane and matrix
  JOURNAL   Cell Biosci 11 (1), 195 (2021)
   PUBMED   34789336
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2309)
  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 2309)
  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   5  (bases 1 to 2309)
  AUTHORS   Reyes,A., Favia,P., Vidoni,S., Petruzzella,V. and Zeviani,M.
  TITLE     RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly
            through their interaction with GTPases
  JOURNAL   PLoS Genet 16 (7), e1008923 (2020)
   PUBMED   32735630
  REMARK    GeneRIF: RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome
            assembly through their interaction with GTPases.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2309)
  AUTHORS   Floyd,B.J., Wilkerson,E.M., Veling,M.T., Minogue,C.E., Xia,C.,
            Beebe,E.T., Wrobel,R.L., Cho,H., Kremer,L.S., Alston,C.L.,
            Gromek,K.A., Dolan,B.K., Ulbrich,A., Stefely,J.A., Bohl,S.L.,
            Werner,K.M., Jochem,A., Westphall,M.S., Rensvold,J.W., Taylor,R.W.,
            Prokisch,H., Kim,J.P., Coon,J.J. and Pagliarini,D.J.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   7  (bases 1 to 2309)
  AUTHORS   Baltz,A.G., Munschauer,M., Schwanhausser,B., Vasile,A.,
            Murakawa,Y., Schueler,M., Youngs,N., Penfold-Brown,D., Drew,K.,
            Milek,M., Wyler,E., Bonneau,R., Selbach,M., Dieterich,C. and
            Landthaler,M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   8  (bases 1 to 2309)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   9  (bases 1 to 2309)
  AUTHORS   Wang,J., Huo,K., Ma,L., Tang,L., Li,D., Huang,X., Yuan,Y., Li,C.,
            Wang,W., Guan,W., Chen,H., Jin,C., Wei,J., Zhang,W., Yang,Y.,
            Liu,Q., Zhou,Y., Zhang,C., Wu,Z., Xu,W., Zhang,Y., Liu,T., Yu,D.,
            Zhang,Y., Chen,L., Zhu,D., Zhong,X., Kang,L., Gan,X., Yu,X., Ma,Q.,
            Yan,J., Zhou,L., Liu,Z., Zhu,Y., Zhou,T., He,F. and Yang,X.
  TITLE     Toward an understanding of the protein interaction network of the
            human liver
  JOURNAL   Mol Syst Biol 7, 536 (2011)
   PUBMED   21988832
  REMARK    Erratum:[Mol Syst Biol. 2017 Dec 18;13(12):965. doi:
            10.15252/msb.20178107.. PMID: 29254952]
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 2309)
  AUTHORS   Merla,G., Ucla,C., Guipponi,M. and Reymond,A.
  TITLE     Identification of additional transcripts in the Williams-Beuren
            syndrome critical region
  JOURNAL   Hum Genet 110 (5), 429-438 (2002)
   PUBMED   12073013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL536085.3 and BC007823.2.
            
            On Nov 23, 2018 this sequence version replaced NM_030798.4.
            
            Summary: This gene encodes a protein containing regulator of
            chromosome condensation 1-like repeats. The encoded protein may
            function as a guanine nucleotide exchange factor. This gene is
            located in a region of chromosome 7 that is deleted in
            Williams-Beuren syndrome, a multisystem developmental disorder.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: BC007823.2, SRR3476690.980767.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000610322.5/ ENSP00000480364.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AL536085.3         80-88
            10-2309             BC007823.2         1-2300
FEATURES             Location/Qualifiers
     source          1..2309
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..2309
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /note="RCC1 like"
                     /db_xref="GeneID:81554"
                     /db_xref="HGNC:HGNC:14948"
                     /db_xref="MIM:620739"
     exon            1..389
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..1460
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Williams-Beuren syndrome chromosomal region 16 protein;
                     RCC1-like G exchanging factor-like protein;
                     Williams-Beuren syndrome chromosome region 16; RCC1-like
                     protein"
                     /codon_start=1
                     /product="RCC1-like G exchanging factor-like protein
                     isoform 1"
                     /protein_id="NP_110425.2"
                     /db_xref="CCDS:CCDS5577.1"
                     /db_xref="GeneID:81554"
                     /db_xref="HGNC:HGNC:14948"
                     /db_xref="MIM:620739"
                     /translation="MALVALVAGARLGRRLSGPGLGRGHWTAAGRSRSRREAAEAEAE
                     VPVVQYVGERAARADRVFVWGFSFSGALGVPSFVVPSSGPGPRAGARPRRRIQPVPYR
                     LELDQKISSAACGYGFTLLSSKTADVTKVWGMGLNKDSQLGFHRSRKDKTRGYEYVLE
                     PSPVSLPLDRPQETRVLQVSCGRAHSLVLTDREGVFSMGNNSYGQCGRKVVENEIYSE
                     SHRVHRMQDFDGQVVQVACGQDHSLFLTDKGEVYSCGWGADGQTGLGHYNITSSPTKL
                     GGDLAGVNVIQVATYGDCCLAVSADGGLFGWGNSEYLQLASVTDSTQVNVPRCLHFSG
                     VGKVRQAACGGTGCAVLNGEGHVFVWGYGILGKGPNLVESAVPEMIPPTLFGLTEFNP
                     EIQVSRIRCGLSHFAALTNKGELFVWGKNIRGCLGIGRLEDQYFPWRVTMPGEPVDVA
                     CGVDHMVTLAKSFI"
     exon            390..519
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /inference="alignment:Splign:2.1.0"
     exon            520..648
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /inference="alignment:Splign:2.1.0"
     exon            649..715
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /inference="alignment:Splign:2.1.0"
     exon            716..767
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /inference="alignment:Splign:2.1.0"
     exon            768..852
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /inference="alignment:Splign:2.1.0"
     exon            853..1034
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1122
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /inference="alignment:Splign:2.1.0"
     exon            1123..1296
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1382
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /inference="alignment:Splign:2.1.0"
     exon            1383..2309
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2277..2282
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /note="hexamer: AATAAA"
     polyA_site      2309
                     /gene="RCC1L"
                     /gene_synonym="WBSCR16"
                     /note="major polyA site"
ORIGIN      
        1 aggactggtg ttaagggtca cgcaagatgg cggcgcccag aggctgctga ggcgcggaac
       61 ggaggatggc gctggtggcg ttggtggctg gggctcggct ggggcggcgg ctgagcgggc
      121 cggggctggg gcgagggcac tggacggcgg ccgggcgctc ccggagccgg cgcgaagcgg
      181 cagaagccga ggcggaggtg cccgtggtcc agtacgtggg cgagcgcgct gcccgcgccg
      241 atcgcgtctt cgtgtggggc ttcagcttct cgggggcgct gggcgtgcct tcctttgtgg
      301 tgcccagctc cgggcccggg ccccgcgccg gcgcccgacc gcgccgcagg atccagcccg
      361 tgccctatcg cctggagctg gaccaaaaga tttcatctgc tgcttgcggc tatggattca
      421 cactgctgtc ctctaagact gcggatgtta cgaaagtctg ggggatggga ctcaacaaag
      481 attctcagct tggatttcac aggagccgga aagataaaac gaggggctac gagtatgtgt
      541 tggagccctc acccgtctcc ctgcctctgg acagacctca ggagacacgg gtgctgcagg
      601 tctcctgcgg ccgagctcac tctcttgtgt tgactgacag ggaaggagtc ttcagcatgg
      661 gaaacaattc ttatgggcaa tgtggaagaa aggtggtcga aaatgaaatt tacagtgaaa
      721 gtcacagagt ccacaggatg caggacttcg atggccaggt ggtccaggtc gcctgtggtc
      781 aggatcatag tctgttcctg acggataaag gagaagtcta ttcttgtgga tggggtgctg
      841 atgggcaaac aggtctgggt cactacaata tcaccagctc gcccaccaag ctgggtggag
      901 acctggcggg agtgaacgtt atccaagttg ccacctacgg tgattgctgc ctggccgtgt
      961 ccgccgacgg aggacttttt ggttggggaa actcggagta cctgcagctg gcctctgtca
     1021 ctgactccac acaggtgaat gtgccccgct gcttacactt ctcaggagtg gggaaggtgc
     1081 gacaggctgc atgcggtggc acgggctgtg cagtgttaaa cggagaagga catgtttttg
     1141 tctggggcta tggaattctt gggaaaggtc caaacctagt ggaaagtgcc gtccctgaaa
     1201 tgattccacc cactctcttt ggcttgacgg agttcaaccc agaaatccag gtttcccgca
     1261 tccgatgtgg actcagccac tttgctgcac tgaccaacaa aggagagctg tttgtatggg
     1321 gcaagaacat ccgagggtgc ctgggaatcg gtcgcctgga ggaccagtat ttcccatgga
     1381 gggtgacgat gcctggggag cctgtggacg tggcatgtgg cgtggaccac atggtgaccc
     1441 tggccaagtc attcatctaa acctccctca cctgcttggg cggccccgtc ccgggaacca
     1501 ctggcactcc ttggcagagg ccagcgcgtg gccagccccc cggggttctt ggatggtggt
     1561 ggcggaggac cctgcgtgca gtgtgacgct ctgtcctgaa tcccttagcg ggtacctacc
     1621 aggaggatca gggcaaggtc cctctccagc tgcaggtgag gcctgcggaa ctcagcttgg
     1681 atggcagcct ttggtgggcc gctgtggccc gcacgtctct gttctctcca agtaacatgc
     1741 gacggtgtct ggtgtcacgt ctcgcctgag aagcccgtct taggaaagct tagcttgaac
     1801 acagtgctcg ggaggtttct gctctgtctg tcatggcagt ctcttggttt gtgtctggcc
     1861 aaggccatgc gtgtgcctcg gaccgagccc cagcttaggc gagggagtca ggctggcttc
     1921 ggccctcggt tttcattcag gccaccctgc tcatggccct tcctggccgc ctgccacacc
     1981 gcaagctcgc tggggggaca ctagaagcac cgtggcctgg gattccatct ggagctgtcc
     2041 gcaggcacca gccccagcct cccaccacgc tcactgcctg gcttggaaaa gttaagaagc
     2101 ccctcaggaa gagaatcgag gccaagttcc tctgcgccga gggccccgag catatccgcc
     2161 aaggctcagc tgcagtgcca ggcggaggag gaagatccag aaattgtgaa caatgtttga
     2221 tttagtagcg tgacttgcct ttccctttaa aaacatcttt tacaaatctg tcttggaata
     2281 aagtctattt tctgcctttt ggtttttaa
//
