LOCUS       NP_033378                421 aa            linear   ROD 01-OCT-2024
DEFINITION  telomeric repeat-binding factor 1 isoform 1 [Mus musculus].
ACCESSION   NP_033378
VERSION     NP_033378.1
DBSOURCE    REFSEQ: accession NM_009352.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 421)
  AUTHORS   Milman Krentsis,I., Zheng,Y., Rosen,C., Shin,S.Y., Blagdon,C.,
            Shoshan,E., Qi,Y., Wang,J., Yadav,S.K., Bachar Lustig,E.,
            Shetzen,E., Dickey,B.F., Karmouty-Quintana,H. and Reisner,Y.
  TITLE     Lung cell transplantation for pulmonary fibrosis
  JOURNAL   Sci Adv 10 (34), eadk2524 (2024)
   PUBMED   39178253
REFERENCE   2  (residues 1 to 421)
  AUTHORS   Leon,N.Y., Le,T.N.U., Garvie,A., Wong,L.H., Bagheri-Fam,S. and
            Harley,V.R.
  TITLE     Y chromosome damage underlies testicular abnormalities in ATR-X
            syndrome
  JOURNAL   iScience 27 (5), 109629 (2024)
   PUBMED   38616920
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 421)
  AUTHORS   Zhang,J., Ruiz,M., Bergh,P.O., Henricsson,M., Stojanovic,N.,
            Devkota,R., Henn,M., Bohlooly-Y,M., Hernandez-Hernandez,A.,
            Alsheimer,M., Boren,J., Pilon,M. and Shibuya,H.
  TITLE     Regulation of meiotic telomere dynamics through membrane fluidity
            promoted by AdipoR2-ELOVL2
  JOURNAL   Nat Commun 15 (1), 2315 (2024)
   PUBMED   38485951
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 421)
  AUTHORS   Stylianakis,E., Chan,J.P.K., Law,P.P., Jiang,Y., Khadayate,S.,
            Karimi,M.M., Festenstein,R. and Vannier,J.B.
  TITLE     Mouse HP1gamma regulates TRF1 expression and telomere stability
  JOURNAL   Life Sci 331, 122030 (2023)
   PUBMED   37598977
  REMARK    GeneRIF: Mouse HP1gamma regulates TRF1 expression and telomere
            stability.
REFERENCE   5  (residues 1 to 421)
  AUTHORS   Beier,F., Foronda,M., Martinez,P. and Blasco,M.A.
  TITLE     Conditional TRF1 knockout in the hematopoietic compartment leads to
            bone marrow failure and recapitulates clinical features of
            dyskeratosis congenita
  JOURNAL   Blood 120 (15), 2990-3000 (2012)
   PUBMED   22932806
  REMARK    GeneRIF: Loss of TRF1 leads to bone marrow failure and
            recapitulates clinical features of dyskeratosis congenita.
REFERENCE   6  (residues 1 to 421)
  AUTHORS   Iwano,T., Tachibana,M., Reth,M. and Shinkai,Y.
  TITLE     Importance of TRF1 for functional telomere structure
  JOURNAL   J Biol Chem 279 (2), 1442-1448 (2004)
   PUBMED   14559908
  REMARK    GeneRIF: TRF1 interacts with other telomere-binding molecules and
            integrates into the functional telomere structure
REFERENCE   7  (residues 1 to 421)
  AUTHORS   Karlseder,J., Kachatrian,L., Takai,H., Mercer,K., Hingorani,S.,
            Jacks,T. and de Lange,T.
  TITLE     Targeted deletion reveals an essential function for the telomere
            length regulator Trf1
  JOURNAL   Mol Cell Biol 23 (18), 6533-6541 (2003)
   PUBMED   12944479
  REMARK    GeneRIF: Here we show that targeted deletion of exon 1 of the mouse
            gene encoding Trf1 causes early (day 5 to 6 postcoitus) embryonic
            lethality.These data suggest that murine Trf1 has an essential
            function that is independent of telomere length regulation
REFERENCE   8  (residues 1 to 421)
  AUTHORS   Smith,S. and de Lange,T.
  TITLE     TRF1, a mammalian telomeric protein
  JOURNAL   Trends Genet 13 (1), 21-26 (1997)
   PUBMED   9009844
  REMARK    Review article
REFERENCE   9  (residues 1 to 421)
  AUTHORS   Broccoli,D., Chong,L., Oelmann,S., Fernald,A.A., Marziliano,N., van
            Steensel,B., Kipling,D., Le Beau,M.M. and de Lange,T.
  TITLE     Comparison of the human and mouse genes encoding the telomeric
            protein, TRF1: chromosomal localization, expression and conserved
            protein domains
  JOURNAL   Hum Mol Genet 6 (1), 69-76 (1997)
   PUBMED   9002672
REFERENCE   10 (residues 1 to 421)
  AUTHORS   Chong,L., van Steensel,B., Broccoli,D., Erdjument-Bromage,H.,
            Hanish,J., Tempst,P. and de Lange,T.
  TITLE     A human telomeric protein
  JOURNAL   Science 270 (5242), 1663-1667 (1995)
   PUBMED   7502076
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC109269.17.
            
            Summary: This gene encodes a protein that binds to repeats in
            telomeres to form a nucleoprotein complex that protects against the
            degradation of chromosomal ends. The encoded protein regulates the
            length of telomeres and is an integral structural component of the
            functional telomere. This protein is thought to play a role in
            spindle formation in mitosis. Mutations in this gene are associated
            with bone marrow failure. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Nov 2013].
            
            Sequence Note:.
            
            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 :: BC034866.1, U65586.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849383, SAMN00849384
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..421
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 4.88 cM"
     Protein         1..421
                     /product="telomeric repeat-binding factor 1 isoform 1"
                     /note="TTAGGG repeat-binding factor 1"
                     /calculated_mol_wt=48093
     Region          1..30
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P70371.1)"
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:P54274; propagated from
                     UniProtKB/Swiss-Prot (P70371.1)"
     Region          49..255
                     /region_name="TRFH mediates dimerization.
                     /evidence=ECO:0000250|UniProtKB:P54274"
                     /note="propagated from UniProtKB/Swiss-Prot (P70371.1)"
     Region          54..251
                     /region_name="TRFH"
                     /note="Telomeric Repeat binding Factor or TTAGGG Repeat
                     binding Factor, central (dimerization) domain Homology;
                     TRFH. Telomeres are protein/DNA complexes that make up the
                     physical ends of eukaryotic linear chromosomes and are
                     essential for chromosome stability; cd00280"
                     /db_xref="CDD:238174"
     Site            order(93,96,110,114,118,128..132,140,143..144,147)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:238174"
     Site            206
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000250|UniProtKB:P54274; propagated from
                     UniProtKB/Swiss-Prot (P70371.1)"
     Region          252..365
                     /region_name="Interaction with RLIM.
                     /evidence=ECO:0000250|UniProtKB:P54274"
                     /note="propagated from UniProtKB/Swiss-Prot (P70371.1)"
     Region          253..366
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P70371.1)"
     Region          313..367
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P70371.1)"
     Region          370..416
                     /region_name="SANT_TRF"
                     /note="Telomere repeat binding factor-like DNA-binding
                     domains of the SANT/myb-like family; cd11660"
                     /db_xref="CDD:212558"
     Site            order(370,388,390..391,402,404..406,408..410,412..413)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212558"
     CDS             1..421
                     /gene="Terf1"
                     /gene_synonym="Pin2; Trbf1; Trf1"
                     /coded_by="NM_009352.4:33..1298"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14827.1"
                     /db_xref="GeneID:21749"
                     /db_xref="MGI:MGI:109634"
ORIGIN      
        1 maetvssaar dapsregwtd sdspeqeevg ddaellqcql qlgtpremen aelvaeveav
       61 aagwmldflc lslcrafrdg rsedfrrtrd saeaiihglh rltayqlktv yicqfltrva
      121 sgkaldaqfe vderitples almiwnsiek ehdklhdeik nlikiqavav cmeigsfkea
      181 eevferifgd pefytplerk llkiisqkdv fhslfqhfsy scmmekiqsy vgdvlsekss
      241 tflmkaatkv venekartqa skdrpdatnt gmdtevglnk eksvngqqst eteplvdtvs
      301 sirshknals qlkhrrapsd fsrneartgt lqcettmern rrtsgrnrlc vsenqpdtdd
      361 ksgrrkrqtw lweedrilkc gvkkygegnw akilshykfn nrtsvmlkdr wrtmkrlkli
      421 s
//
