• Gene id: 254102

Gene Summary

• Gene Symbol: EHBP1L1   Gene   UCSC   Ensembl
• Gene name: EH domain binding protein 1 like 1
• Alternate names: EH domain-binding protein 1-like protein 1, tangerin,
• Gene location: 11q13.1 (65576033: 65592649)     Exons: 23     NC_000011.10

Protein Summary

• Protein general information: Q8N3D4  
  • Name: EH domain binding protein 1 like protein 1
  • Length: 1523  
  • Mass: 161854
• Sequence:

  MTSVWKRLQRVGKRAAKFQFVACYHELVLECTKKWQPDKLVVVWTRRNRRICSKAHSWQPGIQNPYRGTVVWMVP
  ENVDISVTLYRDPHVDQYEAKEWTFIIENESKGQRKVLATAEVDLARHAGPVPVQVPVRLRLKPKSVKVVQAELS
  LTLSGVLLREGRATDDDMQSLASLMSVKPSDVGNLDDFAESDEDEAHGPGAPEARARVPQPDPSRELKTLCEEEE
  EGQGRPQQAVASPSNAEDTSPAPVSAPAPPARTSRGQGSERANEAGGQVGPEAPRPPETSPEMRSSRQPAQDTAP
  TPAPRLRKGSDALRPPVPQGEDEVPKASGAPPAGLGSARETQAQACPQEGTEAHGARLGPSIEDKGSGDPFGRQR
  LKAEEMDTEDRPEASGVDTEPRSGGREANTKRSGVRAGEAEESSAVCQVDAEQRSKVRHVDTKGPEATGVMPEAR
  CRGTPEAPPRGSQGRLGVRTRDEAPSGLSLPPAEPAGHSGQLGDLEGARAAAGQEREGAEVRGGAPGIEGTGLEQ
  GPSVGAISTRPQVSSWQGALLSTAQGAISRGLGGWEAEAGGSGDLETETEVVGLEVLGTQEKEVEGSGFPETRTL
  EIEILGALEKEAARSRVLESEVAGTAQCEGLETQETEVGVIETPGTETEVLGTQKTEAGGSGVLQTRTTIAETEV
  LVTQEISGDLGPLKIEDTIQSEMLGTQETEVEASRVPESEAEGTEAKILGTQEITARDSGVREIEAEIAESDILV
  AQEIEVGLLGVLGIETGAAEGAILGTQEIASRDSGVPGLEADTTGIQVKEVGGSEVPEIATGTAETEILGTQEIA
  SRSSGVPGLESEVAGAQETEVGGSGISGPEAGMAEARVLMTRKTEIIVPEAEKEEAQTSGVQEAETRVGSALKYE
  ALRAPVTQPRVLGSQEAKAEISGVQGSETQVLRVQEAEAGVWGMSEGKSGAWGAQEAEMKVLESPENKSGTFKAQ
  EAEAGVLGNEKGKEAEGSLTEASLPEAQVASGAGAGAPRASSPEKAEEDRRLPGSQAPPALVSSSQSLLEWCQEV
  TTGYRGVRITNFTTSWRNGLAFCAILHRFYPDKIDYASLDPLNIKQNNKQAFDGFAALGVSRLLEPADMVLLSVP
  DKLIVMTYLCQIRAFCTGQELQLVQLEGGGGAGTYRVGSAQPSPPDDLDAGGLAQRLRGHGAEGPQEPKEAADRA
  DGAAPGVASRNAVAGRASKDGGAEAPRESRPAEVPAEGLVNGAGAPGGGGVRLRRPSVNGEPGSVPPPRAHGSFS
  HVRDADLLKKRRSRLRNSSSFSMDDPDAGAMGAAAAEGQAPDPSPAPGPPTAADSQQPPGGSSPSEEPPPSPGEE
  AGLQRFQDTSQYVCAELQALEQEQRQIDGRAAEVEMQLRSLMESGANKLQEEVLIQEWFTLVNKKNALIRRQDQL
  QLLMEEQDLERRFELLSRELRAMLAIEDWQKTSAQQHREQLLLEELVSLVNQRDELVRDLDHKERIALEEDERLE
  RGLEQRRRKLSRQLSRRERCVLS

• Structural information:
  • Protein Domains: (8..15-)
    (/note="C2-NT-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01186-)
    (1037..114-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (1349..150-)
    (/note="bMERB-)
    (/evidence="ECO:0000255|PROSIT-)
  • Interpro: IPR022735  IPR001715  IPR036872  IPR029928  IPR019448  
  • Prosite: PS51848 PS51840 PS50021
  • CDD: cd00014
  • STRING: ENSP00000312671
• Other Databases: GeneCards:  EHBP1L1  Malacards:  EHBP1L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0005815	microtubule organizing center	IBA	cellular component
GO:0031941	filamentous actin	IBA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq