• Gene id: 9189

Gene Summary

• Gene Symbol: ZBED1   Gene   UCSC   Ensembl
• Aliases: ALTE, DREF, TRAMP, hDREF
• Gene name: zinc finger BED-type containing 1
• Alternate names: zinc finger BED domain-containing protein 1, Ac-like transposable element, BED-type zinc finger domain-containing protein 1, DNA replication-related element binding factor, dREF homolog,
• Gene location: Xp22.33 and Yp11.2 (2500975: 2486413)     Exons: 9     NC_000023.11
• Gene summary(Entrez): This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It was earlier identified as a gene with similarity to Ac transposable elements, however, was found not to have transposase activity. Later studies show that this gene pro
• OMIM: 300178

SNPs

rs11091748

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50414986A>C
NC_000023.11   g.50414986A>G
NC_000023.11   g.50414986A>T
NW_004070877.1   g.128101A>C
NW_004070877.1   g.128101A>G
NW_004070877.1   g.128101A>T
NG_033143.2   g.60737T>G
NG_033143.2   g.60737T>C
NG_033143.2   g.60737T>A
NC_000023.10   g.5015

rs12171755

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50436751C>G
NC_000023.11   g.50436751C>T
NW_004070877.1   g.149866C>G
NW_004070877.1   g.149866C>T
NG_033143.2   g.38972G>C
NG_033143.2   g.38972G>A
NC_000023.10   g.50179749C>G
NC_000023.10   g.50179749C>T|SEQ=[C/G/T]|GENE=DGKK

rs4143304

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50403572C>T
NW_004070877.1   g.116687C>T
NG_033143.2   g.72151G>A
NM_001013742.4   c.1104G>A
NM_001013742.3   c.1104G>A
NM_001013742.2   c.1104G>A
NC_000023.10   g.50146570C>T
XM_017029268.2   c.1104G>A|SEQ=[C/T]|GENE=DGKK

rs17328236

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50425211A>C
NC_000023.11   g.50425211A>G
NW_004070877.1   g.138326A>C
NW_004070877.1   g.138326A>G
NG_033143.2   g.50512T>G
NG_033143.2   g.50512T>C
NC_000023.10   g.50168209A>C
NC_000023.10   g.50168209A>G|SEQ=[A/C/G]|GENE=DGKK

rs1934179

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50439186G>A
NW_004070877.1   g.152301G>A
NG_033143.2   g.36537C>T
NC_000023.10   g.50182184G>A|SEQ=[G/A]|GENE=DGKK

rs4554617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50460404A>C
NW_004070877.1   g.173519A>C
NG_033143.2   g.15319T>G
NC_000023.10   g.50203402A>C|SEQ=[A/C]|GENE=DGKK

rs1934183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50438016A>C
NW_004070877.1   g.151131A>C
NG_033143.2   g.37707T>G
NC_000023.10   g.50181014A>C|SEQ=[A/C]|GENE=DGKK

rs2211122

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50459752T>C
NW_004070877.1   g.172867T>C
NG_033143.2   g.15971A>G
NC_000023.10   g.50202750T>C|SEQ=[T/C]|GENE=DGKK

rs9969978

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50425307G>C
NW_004070877.1   g.138422G>C
NG_033143.2   g.50416C>G
NC_000023.10   g.50168305G>C|SEQ=[G/C]|GENE=DGKK

rs1934188

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50406247G>A
NC_000023.11   g.50406247G>C
NW_004070877.1   g.119362G>A
NW_004070877.1   g.119362G>C
NG_033143.2   g.69476C>T
NG_033143.2   g.69476C>G
NC_000023.10   g.50149245G>A
NC_000023.10   g.50149245G>C|SEQ=[G/A/C]|GENE=DGKK

rs4826632

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50454263G>T
NW_004070877.1   g.167378G>T
NG_033143.2   g.21460C>A
NC_000023.10   g.50197261G>T|SEQ=[G/T]|GENE=DGKK

rs4599945

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50380968G>A
NC_000023.11   g.50380968G>T
NW_004070877.1   g.94083G>A
NW_004070877.1   g.94083G>T
NG_033143.2   g.94755C>T
NG_033143.2   g.94755C>A
NC_000023.10   g.50123966G>A
NC_000023.10   g.50123966G>T|SEQ=[G/A/T]|GENE=DGKK

rs4074319

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50376189G>A
NW_004070877.1   g.89304G>A
NG_033143.2   g.99534C>T
NC_000023.10   g.50119188G>A|SEQ=[G/A]|GENE=DGKK

rs7879090

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50376928A>G
NW_004070877.1   g.90043A>G
NG_033143.2   g.98795T>C
NC_000023.10   g.50119927A>G|SEQ=[A/G]|GENE=DGKK

rs5961179

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50386371A>G
NW_004070877.1   g.99486A>G
NG_033143.2   g.89352T>C
NM_001013742.4   c.2334T>C
NM_001013742.3   c.2334T>C
NM_001013742.2   c.2334T>C
NC_000023.10   g.50129369A>G
XM_017029268.2   c.2334T>C|SEQ=[A/G]|GENE=DGKK

rs7882950

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50386957C>T
NW_004070877.1   g.100072C>T
NG_033143.2   g.88766G>A
NC_000023.10   g.50129955C>T|SEQ=[C/T]|GENE=DGKK

rs12556919

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50388166A>G
NC_000023.11   g.50388166A>T
NW_004070877.1   g.101281A>G
NW_004070877.1   g.101281A>T
NG_033143.2   g.87557T>C
NG_033143.2   g.87557T>A
NC_000023.10   g.50131164A>G
NC_000023.10   g.50131164A>T|SEQ=[A/G/T]|GENE=DGKK

rs12012084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50390683A>C
NC_000023.11   g.50390683A>G
NW_004070877.1   g.103798A>C
NW_004070877.1   g.103798A>G
NG_033143.2   g.85040T>G
NG_033143.2   g.85040T>C
NC_000023.10   g.50133681A>C
NC_000023.10   g.50133681A>G|SEQ=[A/C/G]|GENE=DGKK

rs17003341

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50391813C>T
NW_004070877.1   g.104928C>T
NG_033143.2   g.83910G>A
NC_000023.10   g.50134811C>T|SEQ=[C/T]|GENE=DGKK

rs1320573

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50397981C>T
NW_004070877.1   g.111096C>T
NG_033143.2   g.77742G>A
NC_000023.10   g.50140979C>T|SEQ=[C/T]|GENE=DGKK

rs17003346

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50400511A>G
NW_004070877.1   g.113626A>G
NG_033143.2   g.75212T>C
NC_000023.10   g.50143509A>G|SEQ=[A/G]|GENE=DGKK

rs1934190

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50400967G>A
NC_000023.11   g.50400967G>C
NC_000023.11   g.50400967G>T
NW_004070877.1   g.114082G>A
NW_004070877.1   g.114082G>C
NW_004070877.1   g.114082G>T
NG_033143.2   g.74756C>T
NG_033143.2   g.74756C>G
NG_033143.2   g.74756C>A
NC_000023.10   g.5014

rs17003348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50415123T>C
NW_004070877.1   g.128238T>C
NG_033143.2   g.60600A>G
NC_000023.10   g.50158121T>C|SEQ=[T/C]|GENE=DGKK

rs7888440

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50415792G>C
NW_004070877.1   g.128907G>C
NG_033143.2   g.59931C>G
NC_000023.10   g.50158790G>C|SEQ=[G/C]|GENE=DGKK

rs7877459

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50417673C>G
NW_004070877.1   g.130788C>G
NG_033143.2   g.58050G>C
NC_000023.10   g.50160671C>G|SEQ=[C/G]|GENE=DGKK

rs5961182

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50432873C>A
NC_000023.11   g.50432873C>G
NC_000023.11   g.50432873C>T
NW_004070877.1   g.145988C>A
NW_004070877.1   g.145988C>G
NW_004070877.1   g.145988C>T
NG_033143.2   g.42850G>T
NG_033143.2   g.42850G>C
NG_033143.2   g.42850G>A
NC_000023.10   g.5017

rs1934170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50439853G>A
NC_000023.11   g.50439853G>C
NW_004070877.1   g.152968G>A
NW_004070877.1   g.152968G>C
NG_033143.2   g.35870C>T
NG_033143.2   g.35870C>G
NC_000023.10   g.50182851G>A
NC_000023.10   g.50182851G>C|SEQ=[G/A/C]|GENE=DGKK

rs6614511

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50456494A>T
NW_004070877.1   g.169609A>T
NG_033143.2   g.19229T>A
NC_000023.10   g.50199492A>T|SEQ=[A/T]|GENE=DGKK

rs1934184

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50462117C>A
NC_000023.11   g.50462117C>T
NW_004070877.1   g.175232C>A
NW_004070877.1   g.175232C>T
NG_033143.2   g.13606G>T
NG_033143.2   g.13606G>A
NC_000023.10   g.50205115C>A
NC_000023.10   g.50205115C>T|SEQ=[C/A/T]|GENE=DGKK

rs5961183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50462757T>C
NW_004070877.1   g.175872T>C
NG_033143.2   g.12966A>G
NC_000023.10   g.50205755T>C|SEQ=[T/C]|GENE=DGKK

rs7876567

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50468742C>T
NW_004070877.1   g.181857C>T
NG_033143.2   g.6981G>A
NC_000023.10   g.50211741C>T|SEQ=[C/T]|GENE=DGKK

Protein Summary

• Protein general information: O96006  
  • Name: Zinc finger BED domain containing protein 1 (Putative Ac like transposable element) (dREF homolog)
  • Length: 694  
  • Mass: 78156
  • Tissue specificity: Ubiquitously expressed at low levels. Expression is highest in skeletal muscle, heart, spleen and placenta.
• Sequence:

  MENKSLESSQTDLKLVAHPRAKSKVWKYFGFDTNAEGCILQWKKIYCRICMAQIAYSGNTSNLSYHLEKNHPEEF
  CEFVKSNTEQMREAFATAFSKLKPESSQQPGQDALAVKAGHGYDSKKQQELTAAVLGLICEGLYPASIVDEPTFK
  VLLKTADPRYELPSRKYISTKAIPEKYGAVREVILKELAEATWCGISTDMWRSENQNRAYVTLAAHFLGLGAPNC
  LSMGSRCLKTFEVPEENTAETITRVLYEVFIEWGISAKVFGATTNYGKDIVKACSLLDVAVHMPCLGHTFNAGIQ
  QAFQLPKLGALLSRCRKLVEYFQQSAVAMYMLYEKQKQQNVAHCMLVSNRVSWWGSTLAMLQRLKEQQFVIAGVL
  VEDSNNHHLMLEASEWATIEGLVELLQPFKQVAEMLSASRYPTISMVKPLLHMLLNTTLNIKETDSKELSMAKEV
  IAKELSKTYQETPEIDMFLNVATFLDPRYKRLPFLSAFERQQVENRVVEEAKGLLDKVKDGGYRPAEDKIFPVPE
  EPPVKKLMRTSTPPPASVINNMLAEIFCQTGGVEDQEEWHAQVVEELSNFKSQKVLGLNEDPLKWWSDRLALFPL
  LPKVLQKYWCVTATRVAPERLFGSAANVVSAKRNRLAPAHVDEQVFLYENARSGAEAEPEDQDEGEWGLDQEQVF
  SLGDGVSGGFFGIRDSSFL

• Structural information:
  • Interpro: IPR037220  IPR008906  IPR012337  IPR003656  IPR036236  
  • Prosite: PS50808
  • PDB: 2CT5
  • PDBsum: 2CT5
  • STRING: ENSP00000370621
• Other Databases: GeneCards:  ZBED1  Malacards:  ZBED1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0019789	SUMO transferase activity	EXP	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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: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: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: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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0016925	protein sumoylation	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R