LOCUS       NM_001135629            3173 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens protein phosphatase 1 regulatory subunit 21 (PPP1R21),
            transcript variant 1, mRNA.
ACCESSION   NM_001135629
VERSION     NM_001135629.3
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 3173)
  AUTHORS   Almannai,M., Marafi,D., Zaki,M.S., Maroofian,R., Efthymiou,S.,
            Saadi,N.W., Filimban,B., Dafsari,H.S., Rahman,F., Maqbool,S.,
            Faqeih,E., Al Mutairi,F., Alsharhan,H., Abdelaty,O., Bin-Hasan,S.,
            Duan,R., Noureldeen,M.M., Alqattan,A., Houlden,H., Hunter,J.V.,
            Posey,J.E., Lupski,J.R. and El-Hattab,A.W.
  TITLE     Expanding the phenotype of PPP1R21-related neurodevelopmental
            disorder
  JOURNAL   Clin Genet 105 (6), 620-629 (2024)
   PUBMED   38356149
  REMARK    GeneRIF: Expanding the phenotype of PPP1R21-related
            neurodevelopmental disorder.
REFERENCE   2  (bases 1 to 3173)
  AUTHORS   Quentin,D., Schuhmacher,J.S., Klink,B.U., Lauer,J., Shaikh,T.R.,
            Huis In 't Veld,P.J., Welp,L.M., Urlaub,H., Zerial,M. and
            Raunser,S.
  TITLE     Structural basis of mRNA binding by the human FERRY Rab5 effector
            complex
  JOURNAL   Mol Cell 83 (11), 1856-1871 (2023)
   PUBMED   37267906
REFERENCE   3  (bases 1 to 3173)
  AUTHORS   Schuhmacher,J.S., Tom Dieck,S., Christoforidis,S., Landerer,C.,
            Davila Gallesio,J., Hersemann,L., Seifert,S., Schafer,R., Giner,A.,
            Toth-Petroczy,A., Kalaidzidis,Y., Bohnsack,K.E., Bohnsack,M.T.,
            Schuman,E.M. and Zerial,M.
  TITLE     The Rab5 effector FERRY links early endosomes with mRNA
            localization
  JOURNAL   Mol Cell 83 (11), 1839-1855 (2023)
   PUBMED   37267905
REFERENCE   4  (bases 1 to 3173)
  AUTHORS   Hentschel,A., Meyer,N., Kohlschmidt,N., Gross,C., Sickmann,A.,
            Schara-Schmidt,U., Forster,F., Topf,A., Christiansen,J.,
            Horvath,R., Vorgerd,M., Thompson,R., Polavarapu,K., Lochmuller,H.,
            Preusse,C., Hannappel,L., Schanzer,A., Gruneboom,A., Gangfuss,A.
            and Roos,A.
  TITLE     A Homozygous PPP1R21 Splice Variant Associated with Severe
            Developmental Delay, Absence of Speech, and Muscle Weakness Leads
            to Activated Proteasome Function
  JOURNAL   Mol Neurobiol 60 (5), 2602-2618 (2023)
   PUBMED   36692708
  REMARK    GeneRIF: A Homozygous PPP1R21 Splice Variant Associated with Severe
            Developmental Delay, Absence of Speech, and Muscle Weakness Leads
            to Activated Proteasome Function.
            Erratum:[Mol Neurobiol. 2023 Jul;60(7):4164. doi:
            10.1007/s12035-023-03319-6.. PMID: 36941504]
REFERENCE   5  (bases 1 to 3173)
  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   6  (bases 1 to 3173)
  AUTHORS   Rehman,A.U., Najafi,M., Kambouris,M., Al-Gazali,L.,
            Makrythanasis,P., Rad,A., Maroofian,R., Rajab,A., Stark,Z.,
            Hunter,J.V., Bakey,Z., Tokita,M.J., He,W., Vetrini,F., Petersen,A.,
            Santoni,F.A., Hamamy,H., Wu,K., Al-Jasmi,F., Helmstadter,M.,
            Arnold,S.J., Xia,F., Richmond,C., Liu,P., Karimiani,E.G., Karami
            Madani,G., Lunke,S., El-Shanti,H., Eng,C.M., Antonarakis,S.E.,
            Hertecant,J., Walkiewicz,M., Yang,Y. and Schmidts,M.
  TITLE     Biallelic loss of function variants in PPP1R21 cause a
            neurodevelopmental syndrome with impaired endocytic function
  JOURNAL   Hum Mutat 40 (3), 267-280 (2019)
   PUBMED   30520571
  REMARK    GeneRIF: a role of PPP1R21 within the endosomal sorting process or
            endosome maturation pathway, is reported.
REFERENCE   7  (bases 1 to 3173)
  AUTHORS   Suleiman,J., Al Hashem,A.M., Tabarki,B., Al-Thihli,K., Bi,W. and
            El-Hattab,A.W.
  TITLE     PPP1R21 homozygous null variants associated with developmental
            delay, muscle weakness, distinctive facial features, and brain
            abnormalities
  JOURNAL   Clin Genet 94 (3-4), 351-355 (2018)
   PUBMED   29808498
  REMARK    GeneRIF: Although PPP1R21 has not yet been linked to human disease,
            the consistency in the phenotype of individuals from unrelated
            families, the nature of the variants which result in truncated
            proteins, and the expected vital role for PPP1R21 in cellular
            function, all support that PPP1R21 is a novel disease-associated
            gene responsible for the phenotype observed in these individuals
REFERENCE   8  (bases 1 to 3173)
  AUTHORS   Hein,M.Y., Hubner,N.C., Poser,I., Cox,J., Nagaraj,N., Toyoda,Y.,
            Gak,I.A., Weisswange,I., Mansfeld,J., Buchholz,F., Hyman,A.A. and
            Mann,M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   9  (bases 1 to 3173)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   10 (bases 1 to 3173)
  AUTHORS   Hendrickx,A., Beullens,M., Ceulemans,H., Den Abt,T., Van Eynde,A.,
            Nicolaescu,E., Lesage,B. and Bollen,M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093635.4, AY134855.1, BC117279.1, AK172762.1 and AA449986.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001135629.2.
            
            Transcript Variant: This variant (1) encodes the longest protein
            (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 :: AK172762.1, SRR1803611.210950.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000294952.13/ ENSP00000294952.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC093635.4         43348-43350
            4-91                AY134855.1         1-88
            92-2601             BC117279.1         1-2510
            2602-3034           AK172762.1         2571-3003
            3035-3035           AK172762.1         3014-3014
            3036-3173           AA449986.1         12-149              c
FEATURES             Location/Qualifiers
     source          1..3173
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     gene            1..3173
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /note="protein phosphatase 1 regulatory subunit 21"
                     /db_xref="GeneID:129285"
                     /db_xref="HGNC:HGNC:30595"
                     /db_xref="MIM:618159"
     exon            1..245
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..2531
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain containing 128; KLRAQ motif-containing
                     protein 1; coiled-coil domain-containing protein 128;
                     KLRAQ motif containing 1; ferry endosomal RAB5 effector
                     complex subunit 2"
                     /codon_start=1
                     /product="protein phosphatase 1 regulatory subunit 21
                     isoform 1"
                     /protein_id="NP_001129101.1"
                     /db_xref="CCDS:CCDS46278.1"
                     /db_xref="GeneID:129285"
                     /db_xref="HGNC:HGNC:30595"
                     /db_xref="MIM:618159"
                     /translation="MASAELQGKYQKLAQEYSKLRAQNQVLKKGVVDEQANSAALKEQ
                     LKMKDQSLRKLQQEMDSLTFRNLQLAKRVELLQDELALSEPRGKKNKKSGESSSQLSQ
                     EQKSVFDEDLQKKIEENERLHIQFFEADEQHKHVEAELRSRLATLETEAAQHQAVVDG
                     LTRKYMETIEKLQNDKAKLEVKSQTLEKEAKECRLRTEECQLQLKTLHEDLSGRLEES
                     LSIINEKVPFNDTKYSQYNALNVPLHNRRHQLKMRDIAGQALAFVQDLVTALLNFHTY
                     TEQRIQIFPVDSAIDTISPLNQKFSQYLHENASYVRPLEEGMLHLFESITEDTVTVLE
                     TTVKLKTFSEHLTSYICFLRKILPYQLKSLEEECESSLCTSALRARNLELSQDMKKMT
                     AVFEKLQTYIALLALPSTEPDGLLRTNYSSVLTNVGAALHGFHDVMKDISKHYSQKAA
                     IEHELPTATQKLITTNDCILSSVVALTNGAGKIASFFSNNLDYFIASLSYGPKAASGF
                     ISPLSAECMLQYKKKAAAYMKSLRKPLLESVPYEEALANRRILLSSTESREGLAQQVQ
                     QSLEKISKLEQEKEHWMLEAQLAKIKLEKENQRIADKLKNTGSAQLVGLAQENAAVSN
                     TAGQDEATAKAVLEPIQSTSLIGTLTRTSDSEVPDVESREDLIKNHYMARIVELTSQL
                     QLADSKSVHFYAECRALSKRLALAEKSKEALTEEMKLASQNISRLQDELTTTKRSYED
                     QLSMMSDHLCSMNETLSKQREEIDTLKMSSKGNSKKNKSR"
     exon            246..314
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            315..461
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            462..563
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            564..728
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            729..787
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            788..882
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            883..935
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1085
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1187
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1276
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1413
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1506
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..1634
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1635..1787
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1788..1880
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            1881..2123
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            2124..2156
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            2157..2273
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            2274..2372
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            2373..2501
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     exon            2502..3173
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2896..2901
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /note="hexamer: AATAGA"
     polyA_site      2921
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
     regulatory      3151..3156
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /note="hexamer: AATAAA"
     polyA_site      3173
                     /gene="PPP1R21"
                     /gene_synonym="CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA"
                     /note="major polyA site"
ORIGIN      
        1 actccacctt cctcccaccc cgggaacccg gaagtggagg aggaggcgcg gcggcggcgg
       61 cggcggcggc tgcggtggcc aagcaggcag atactgcctg acccgttccc gggagcgtgt
      121 ctgggtttgg gggcgggaga caggctgagc cgcctgggcg gcctggcctg tacggggcgg
      181 gggaggccat ggcctcggct gagttgcagg ggaagtacca gaagctggct caggagtact
      241 cgaagcttcg ggctcagaat caggttctga aaaaaggtgt tgtggatgaa caagcaaatt
      301 ctgcagcttt aaaggagcaa ctgaaaatga aggatcagtc attgagaaaa ctacaacagg
      361 aaatggacag tttgacattt cgaaatctgc agcttgccaa gagggtagaa ctacttcaag
      421 atgaactagc tctaagtgaa ccacgaggca agaaaaacaa gaaaagtgga gaatcttctt
      481 ctcagttgag tcaagagcag aagagtgtct ttgatgaaga tctgcaaaag aagatagaag
      541 agaatgaacg gttgcatata caattttttg aagctgatga gcagcacaag catgtggaag
      601 cagagctgag gagtcgactg gccactctgg agacagaagc agcccagcac caagctgtgg
      661 ttgacggtct cacccggaag tacatggaaa ccattgagaa gctgcagaac gacaaggcta
      721 aactagaagt gaaatctcag actctagaaa aggaagccaa ggaatgtcga cttcgaacgg
      781 aagaatgtca attacagtta aagactcttc atgaagattt gtcaggtaga ttagaggaat
      841 ccttatcaat catcaatgaa aaagtacctt ttaatgatac aaaatatagt cagtacaacg
      901 ctctgaacgt tccactccac aataggagac accagctgaa gatgcgagat attgctgggc
      961 aggccctggc ttttgttcag gatcttgtga cggctcttct aaactttcat acctacacag
     1021 aacagaggat tcaaattttt cctgttgatt ctgccattga cactatatct ccattgaatc
     1081 agaagttctc acaatacctt catgaaaatg cgtcctatgt ccgccctctt gaggaaggaa
     1141 tgcttcattt atttgaaagt atcactgagg atactgtgac tgtcttggag acaactgtga
     1201 aattgaaaac tttttcagaa cacttaacct cctacatatg ttttcttagg aagattcttc
     1261 cctatcagtt aaaaagttta gaagaagaat gtgaatcctc tctttgcaca tctgcgttaa
     1321 gagccaggaa tctagagctg tcccaggaca tgaaaaaaat gacagctgtg tttgagaagc
     1381 tgcagactta catagctctt cttgccttgc caagtacaga gccagatgga ctccttcgga
     1441 caaactacag ttctgtgtta acaaatgttg gtgctgctct gcatggattt catgacgtta
     1501 tgaaagatat ttccaaacat tatagtcaaa aagctgcaat agagcatgaa cttccaacag
     1561 caacacagaa gctgataaca actaatgact gtatcctgtc atcagtagtg gcattaacaa
     1621 atggagcagg aaagattgca tccttcttca gcaacaattt ggactacttc attgcttcac
     1681 tgagctatgg acctaaggca gcgagtggat tcattagtcc tctttcagct gaatgcatgc
     1741 tacagtataa gaaaaaagct gctgcctata tgaagtcttt gagaaagccc ctcttggagt
     1801 ctgtgcctta tgaagaagca ctggcaaacc gccgcatcct tctcagctct actgaaagtc
     1861 gagaaggcct tgcacagcaa gttcaacaga gtttggaaaa gatttctaaa ctggagcagg
     1921 aaaaagaaca ttggatgttg gaagcacaat tagccaaaat caagctagag aaagaaaacc
     1981 agcgaattgc agataagctg aagaatacag gtagtgccca gctggttggg ctggcccagg
     2041 aaaatgctgc tgtgtcaaat actgctggcc aggatgaagc cacagctaag gctgtgttgg
     2101 agcccattca gagcaccagt ctaattggga ctttaaccag gacatctgac agtgaggttc
     2161 cagatgtgga atctcgtgaa gacttaatta aaaatcacta catggcaagg atagtggaac
     2221 ttacgtctca gttgcagctg gctgacagta agtcagtgca tttttatgcc gagtgccgag
     2281 cactgtctaa aagactggcc ttggctgaaa agtctaagga agcattgaca gaagaaatga
     2341 aacttgccag tcagaacatc agcagacttc aggatgagct gacaactacc aagaggagtt
     2401 acgaggatca gttaagtatg atgagtgacc acctgtgcag catgaatgag acattatcta
     2461 aacagagaga agagattgac acactaaaga tgtccagtaa ggggaattct aaaaagaaca
     2521 agagtcgata gttttgaaat agctggttgg cgactgttct ttccagacct gctcctgctg
     2581 cacagagccg cagggctgag accacgtcca tgctggctgc cttcaggaag ctaaagtatt
     2641 gttggaccta gtaaactagt cagtgttgga aacggccttg aaatatttaa aacatatttg
     2701 taaccagtga ggcaaataca gaagttgatg tcggcagtaa atggaaaaca atacgtatgt
     2761 catggatatt gtaggtttcc ttatgctgtt tttactgtgc actttttaaa attaggtttt
     2821 aatttcagta tgtaagaaca aatattttgt atactttcaa actcaattat atggtaatcg
     2881 atttggtatc tatggaatag atatatgttt ctggaaaaaa atgcttaaat tgtcaaactg
     2941 tcattacttc ttattatagt tgaaggcatt ctccagattc tttttaaaag atttgttcat
     3001 atttctctct ctctctctct ctctctctct ctcttctttc tctctgaggg agagggagcc
     3061 ctccaaactt cagatcctgt gggtttagta tcattatctt cagctctttg ataccctgtg
     3121 ttagagtaat agctaaagga agttcatgtc aataaattca tacttatatc aca
//
