Terf1 MGI Mouse Gene Detail - MGI:109634 - telomeric repeat binding factor 1

Symbol

Terf1
Name

telomeric repeat binding factor 1
Synonyms

Pin2, Trbf1, Trf1

Feature Type

protein coding gene
IDs

MGI:109634
NCBI Gene: 21749
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr1:15875870-15914276 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 4.88 cM, cytoband E3
Mapping Data

6 experiments

SNPs within 2kb

1222 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109634	protein coding gene	Chr1:15875634-15914283 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0015850	protein coding gene	Chr1:13273507-13315095 (+)
A/J	MGP_AJ_G0015831	protein coding gene	Chr1:13148962-13187798 (+)
AKR/J	MGP_AKRJ_G0015790	protein coding gene	Chr1:13148620-13194897 (+)
BALB/cJ	MGP_BALBcJ_G0015787	protein coding gene	Chr1:12852787-12893778 (+)
C3H/HeJ	MGP_C3HHeJ_G0015621	protein coding gene	Chr1:13152822-13195315 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016241	protein coding gene	Chr1:13855687-13896679 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0013962	protein coding gene	Chr1:11609036-11820892 (+)
CAST/EiJ	MGP_CASTEiJ_G0015202	protein coding gene	Chr1:13249141-13286472 (+)
CBA/J	MGP_CBAJ_G0015594	protein coding gene	Chr1:14176847-14224866 (+)
DBA/2J	MGP_DBA2J_G0015693	protein coding gene	Chr1:12743279-12781633 (+)
FVB/NJ	MGP_FVBNJ_G0015698	protein coding gene	Chr1:12546662-12584477 (+)
LP/J	MGP_LPJ_G0015765	protein coding gene	Chr1:13479555-13523342 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015717	protein coding gene	Chr1:14863607-14905705 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016288	protein coding gene	Chr1:13090839-13127908 (+)
PWK/PhJ	MGP_PWKPhJ_G0014986	protein coding gene	Chr1:12526175-12567006 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0014767	protein coding gene	Chr1:13263316-13315290 (+)
WSB/EiJ	MGP_WSBEiJ_G0015265	protein coding gene	Chr1:13052151-13090702 (+)

Human Ortholog

TERF1, telomeric repeat binding factor 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TERF1, telomeric repeat binding factor 1
Synonyms

hTRF1-AS, PIN2, TRBF1, TRF, TRF1, t-TRF1
Links

HGNC:11728

NCBI Gene ID: 7013

neXtProt AC: NX_P54274

UniProt: P54274
Chr Location

8q21.11; chr8:73008856-73048123 (+) GRCh38

MGI Vertebrate Homology

Terf1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TERF1
Protein SuperFamily

Telomere_bd-1_Pin2
Gene Tree

Terf1

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Phenotype Summary

31 phenotypes from 3 alleles in 4 genetic backgrounds
7 phenotypes from multigenic genotypes
35 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

31
Endonuclease-mediated

4
Gene trapped

22
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

37 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions in this gene display embryonic lethality and die sometime before E7.5

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All GO Annotations

69
GO References

22

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

754
Tissues

38
cDNA Data

42
Literature Summary

16

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase terf1

ZFIN terf1

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All Sequences

52
RefSeq

12
UniProt

3
CCDS

CCDS14827.1, CCDS78547.1

Ensembl

ENSMUSG00000025925 (Evidence)
NCBI Gene

21749

			Length	Strain/Species	Flank
genomic	ENSMUSG00000025925	Ensembl Gene Model \| MGI Sequence Detail	38407	C57BL/6J	± kb
transcript	ENSMUST00000188371	Ensembl \| MGI Sequence Detail	2268	Not Applicable
polypeptide	ENSMUSP00000140744	Ensembl \| MGI Sequence Detail	421	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000016235 telomeric repeat-binding factor 1

(term hierarchy)
InterPro Domains

IPR009057 Homeobox-like domain superfamily

IPR017930 Myb domain

IPR001005 SANT/Myb domain

IPR013867 Telomere repeat-binding factor, dimerisation domain

IPR036507 Telomere repeat-binding factor, dimerisation domain superfamily

IPR052450 Telomeric Repeat-Binding Domain-Containing Protein

IPR017357 Telomeric repeat-binding factor 1/2

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All nucleic 47

Genomic 2

cDNA 43

Primer pair 2

Microarray probesets 5

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MGD-MRK-39633

Summaries

All 109

Developmental Gene Expression 16

Gene Ontology 22

Phenotypes 35
Earliest

J:30144 Chong L, et al., A human telomeric protein. Science. 1995 Dec 8;270(5242):1663-7
Latest

J:353845 Milman Krentsis I, et al., Lung cell transplantation for pulmonary fibrosis. Sci Adv. 2024 Aug 23;10(34):eadk2524

TSS for Terf1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr5986	Chr1:15874581-15874591 (+)	-1,284 bp
Tssr5987	Chr1:15874592-15874597 (+)	-1,275 bp
Tssr5988	Chr1:15874598-15874606 (+)	-1,268 bp
Tssr5989	Chr1:15875847-15875856 (+)	-18 bp
Tssr5990	Chr1:15875863-15875899 (+)	11 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24