Human Gene TERF1 (uc003xzc.2) Description and Page Index
  Description: Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1 (TERF1), transcript variant 2, mRNA.
RefSeq Summary (NM_003218): This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr8:73,921,097-73,933,040 Size: 11,944 Total Exon Count: 4 Strand: +

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther NamesModel Information
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:73,921,097-73,933,040)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
HGNCLynxPubMedStanford SOURCETreefamWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TERF1
CDC HuGE Published Literature: TERF1
Positive Disease Associations: anemia, aplastic
Related Studies:
  1. anemia, aplastic
    Savage, S. A. et al. 2006, Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia, Exp Hematol 2006 34(5) 664-71. [PubMed 16647572]
    It is possible that a common genetic variant in TERF1 is associated with risk for AA but additional studies are required.

-  MalaCards Disease Associations
  MalaCards Gene Search: TERF1
Diseases sorted by gene-association score: aplastic anemia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.16 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 380.48 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog

-  Descriptions from all associated GenBank mRNAs
  LF383590 - JP 2014500723-A/191093: Polycomb-Associated Non-Coding RNAs.
AK292529 - Homo sapiens cDNA FLJ76684 complete cds, highly similar to Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1 (TERF1), transcript variant 1, mRNA.
AF003001 - Homo sapiens TTAGGG repeat binding factor 1 (hTRF1-AS) mRNA, alternatively spliced, complete cds.
U40705 - Homo sapiens telomeric repeat binding factor (TRF1) mRNA, complete cds.
BC014646 - Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1, mRNA (cDNA clone IMAGE:4647688), with apparent retained intron.
BC029378 - Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1, mRNA (cDNA clone MGC:32568 IMAGE:4724068), complete cds.
CU688638 - Synthetic construct Homo sapiens gateway clone IMAGE:100022326 5' read TERF1 mRNA.
BC071975 - Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1, mRNA (cDNA clone IMAGE:4636019).
DQ892573 - Synthetic construct clone IMAGE:100005203; FLH187671.01X; RZPDo839B11150D telomeric repeat binding factor (NIMA-interacting) 1 (TERF1) gene, encodes complete protein.
DQ895789 - Synthetic construct Homo sapiens clone IMAGE:100010249; FLH187667.01L; RZPDo839B11149D telomeric repeat binding factor (NIMA-interacting) 1 (TERF1) gene, encodes complete protein.
KJ892265 - Synthetic construct Homo sapiens clone ccsbBroadEn_01659 TERF1 gene, encodes complete protein.
U74382 - Human telomeric repeat DNA-binding protein (PIN2) mRNA, complete cds.
AK128828 - Homo sapiens cDNA FLJ46308 fis, clone TESTI4039575.
AY576778 - Homo sapiens t-TRF1 mRNA, partial cds, alternatively spliced.
MA619167 - JP 2018138019-A/191093: Polycomb-Associated Non-Coding RNAs.
LF317084 - JP 2014500723-A/124587: Polycomb-Associated Non-Coding RNAs.
JD339736 - Sequence 320760 from Patent EP1572962.
JD176962 - Sequence 157986 from Patent EP1572962.
JD176963 - Sequence 157987 from Patent EP1572962.
JD303480 - Sequence 284504 from Patent EP1572962.
JD210311 - Sequence 191335 from Patent EP1572962.
JD191045 - Sequence 172069 from Patent EP1572962.
JD178366 - Sequence 159390 from Patent EP1572962.
JD340103 - Sequence 321127 from Patent EP1572962.
JD471424 - Sequence 452448 from Patent EP1572962.
JD389734 - Sequence 370758 from Patent EP1572962.
JD178329 - Sequence 159353 from Patent EP1572962.
JD207217 - Sequence 188241 from Patent EP1572962.
JD449496 - Sequence 430520 from Patent EP1572962.
LF317085 - JP 2014500723-A/124588: Polycomb-Associated Non-Coding RNAs.
JD163848 - Sequence 144872 from Patent EP1572962.
MA552661 - JP 2018138019-A/124587: Polycomb-Associated Non-Coding RNAs.
MA552662 - JP 2018138019-A/124588: Polycomb-Associated Non-Coding RNAs.
JD197536 - Sequence 178560 from Patent EP1572962.
LF317086 - JP 2014500723-A/124589: Polycomb-Associated Non-Coding RNAs.
LF317092 - JP 2014500723-A/124595: Polycomb-Associated Non-Coding RNAs.
JD137582 - Sequence 118606 from Patent EP1572962.
JD531023 - Sequence 512047 from Patent EP1572962.
JD172152 - Sequence 153176 from Patent EP1572962.
JD088899 - Sequence 69923 from Patent EP1572962.
JD544662 - Sequence 525686 from Patent EP1572962.
JD168890 - Sequence 149914 from Patent EP1572962.
MA552663 - JP 2018138019-A/124589: Polycomb-Associated Non-Coding RNAs.
MA552669 - JP 2018138019-A/124595: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_telPathway - Telomeres, Telomerase, Cellular Aging, and Immortality

-  Other Names for This Gene
  Alternate Gene Symbols: AY576778
UCSC ID: uc003xzc.2
RefSeq Accession: NM_003218

-  Gene Model Information
category: nearCoding nonsense-mediated-decay: no RNA accession: AY576778.1
exon count: 4CDS single in 3' UTR: no RNA size: 497
ORF size: 0CDS single in intron: no Alignment % ID: 99.80
txCdsPredict score: 437.00frame shift in genome: no % Coverage: 100.00
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.