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Gene id 1879
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol EBF1   Gene   UCSC   Ensembl
Aliases COE1, EBF, O/E-1, OLF1
Gene name EBF transcription factor 1
Alternate names transcription factor COE1, Collier, Olf and EBF transcription factor 1, early B cell factor 1, olfactory neuronal transcription factor 1,
Gene location 5q33.3 (159099915: 158695917)     Exons: 22     NC_000005.10
OMIM 164343

Protein Summary

Protein general information Q9UH73  

Name: Transcription factor COE1 (O/E 1) (OE 1) (Early B cell factor)

Length: 591  Mass: 64464

Sequence MFGIQESIQRSGSSMKEEPLGSGMNAVRTWMQGAGVLDANTAAQSGVGLARAHFEKQPPSNLRKSNFFHFVLALY
DRQGQPVEIERTAFVGFVEKEKEANSEKTNNGIHYRLQLLYSNGIRTEQDFYVRLIDSMTKQAIVYEGQDKNPEM
CRVLLTHEIMCSRCCDKKSCGNRNETPSDPVIIDRFFLKFFLKCNQNCLKNAGNPRDMRRFQVVVSTTVNVDGHV
LAVSDNMFVHNNSKHGRRARRLDPSEGTPSYLEHATPCIKAISPSEGWTTGGATVIIIGDNFFDGLQVIFGTMLV
WSELITPHAIRVQTPPRHIPGVVEVTLSYKSKQFCKGTPGRFIYTALNEPTIDYGFQRLQKVIPRHPGDPERLPK
EVILKRAADLVEALYGMPHNNQEIILKRAADIAEALYSVPRNHNQLPALANTSVHAGMMGVNSFSGQLAVNVSEA
SQATNQGFTRNSSSVSPHGYVPSTTPQQTNYNSVTTSMNGYGSAAMSNLGGSPTFLNGSAANSPYAIVPSSPTMA
SSTSLPSNCSSSSGIFSFSPANMVSAVKQKSAFAPVVRPQTSPPPTCTSTNGNSLQAISGMIVPPM
Structural information
Protein Domains
(262..34-)
(/note="IPT/TIG"-)
Interpro:  IPR032200  IPR038173  IPR032201  IPR038006  IPR036638  
IPR013783  IPR014756  IPR002909  IPR003523  IPR018350  
Prosite:   PS01345
CDD:   cd11606 cd01175

PDB:  
3LYR 3MQI
PDBsum:   3LYR 3MQI
STRING:   ENSP00000322898
Other Databases GeneCards:  EBF1  Malacards:  EBF1

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0000790 nuclear chromatin
ISA cellular component
GO:0000981 DNA-binding transcription
factor activity, RNA pol
ymerase II-specific
ISM molecular function
GO:0000981 DNA-binding transcription
factor activity, RNA pol
ymerase II-specific
ISA molecular function
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
IBA biological process
GO:0005634 nucleus
IBA cellular component
GO:0001228 DNA-binding transcription
activator activity, RNA
polymerase II-specific
IBA molecular function
GO:0003700 DNA-binding transcription
factor activity
IEA molecular function
GO:0003677 DNA binding
IEA molecular function
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological process
GO:0046983 protein dimerization acti
vity
IEA molecular function
GO:0046872 metal ion binding
IEA molecular function
GO:0003677 DNA binding
IEA molecular function
GO:0007275 multicellular organism de
velopment
IEA biological process
GO:0005634 nucleus
IEA cellular component
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0070742 C2H2 zinc finger domain b
inding
IEA molecular function
GO:0005634 nucleus
IEA cellular component
Associated diseases References
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Hypospadias MIK: 25108383
Hypospermatogenesis MIK: 28361989
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
28361989 Hyposperma
togenesis

6 (3 controls,
3 Klienfelter s
yndrome
Male infertility Microarray
Show abstract
25108383 Hypospadia
s
rs4563609
1,006 boys who
underwent surge
ry for hypospad
ias and 5,486 i
ndividuals (2,3
90 males and 3,
096 females)
Male infertility GWAS
Show abstract