• Gene id: 23301

Gene Summary

• Gene Symbol: EHBP1   Gene   UCSC   Ensembl
• Aliases: HPC12, NACSIN
• Gene name: EH domain binding protein 1
• Alternate names: EH domain-binding protein 1, NPF calponin-like protein, testis tissue sperm-binding protein Li 50e,
• Gene location: 2p15 (10723441: 10699083)     Exons: 11     NC_000012.12
• Gene summary(Entrez): This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in
• OMIM: 609922

Protein Summary

• Protein general information: Q8NDI1  
  • Name: EH domain binding protein 1
  • Length: 1231  
  • Mass: 140017
• Sequence:

  MASVWKRLQRVGKHASKFQFVASYQELMVECTKKWQPDKLVVVWTRRSRRKSSKAHSWQPGIKNPYRGVVVWPVP
  ENIEITVTLFKDPHAEEFEDKEWTFVIENESPSGRRKALATSSINMKQYASPMPTQTDVKLKFKPLSKKVVSAAL
  QFSLSCIFLREGKATDEDMQSLASLMSMKQADIGNLDDFEEDNEDDDENRVNQEEKAAKITEIVNQLNALSSLDE
  DQDDCIKQANMRSAKSASSSEELINKLNFLDEAEKDLATVNSNPFDDPDAAELNPFGDPDSEEPITETASPRKTE
  DSFYNNSYNPFKEVQTPQYLNPFDEPEAFVTIKDSPPQSTKRKNIRPVDMSKYLYADSSKTEEEELDESNPFYEP
  KSTPPPNNLVNPVQELETERRVKRKAPAPPVLSPKTGVLNENTVSAGKDLSTSPKPSPIPSPVLGRKPNASQSLL
  VWCKEVTKNYRGVKITNFTTSWRNGLSFCAILHHFRPDLIDYKSLNPQDIKENNKKAYDGFASIGISRLLEPSDM
  VLLAIPDKLTVMTYLYQIRAHFSGQELNVVQIEENSSKSTYKVGNYETDTNSSVDQEKFYAELSDLKREPELQQP
  ISGAVDFLSQDDSVFVNDSGVGESESEHQTPDDHLSPSTASPYCRRTKSDTEPQKSQQSSGRTSGSDDPGICSNT
  DSTQAQVLLGKKRLLKAETLELSDLYVSDKKKDMSPPFICEETDEQKLQTLDIGSNLEKEKLENSRSLECRSDPE
  SPIKKTSLSPTSKLGYSYSRDLDLAKKKHASLRQTESDPDADRTTLNHADHSSKIVQHRLLSRQEELKERARVLL
  EQARRDAALKAGNKHNTNTATPFCNRQLSDQQDEERRRQLRERARQLIAEARSGVKMSELPSYGEMAAEKLKERS
  KASGDENDNIEIDTNEEIPEGFVVGGGDELTNLENDLDTPEQNSKLVDLKLKKLLEVQPQVANSPSSAAQKAVTE
  SSEQDMKSGTEDLRTERLQKTTERFRNPVVFSKDSTVRKTQLQSFSQYIENRPEMKRQRSIQEDTKKGNEEKAAI
  TETQRKPSEDEVLNKGFKDTSQYVVGELAALENEQKQIDTRAALVEKRLRYLMDTGRNTEEEEAMMQEWFMLVNK
  KNALIRRMNQLSLLEKEHDLERRYELLNRELRAMLAIEDWQKTEAQKRREQLLLDELVALVNKRDALVRDLDAQE
  KQAEEEDEHLERTLEQNKGKMAKKEEKCVLQ

• Structural information:
  • Protein Domains: (8..15-)
    (/note="C2-NT-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01186-)
    (443..54-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (1056..121-)
    (/note="bMERB-)
    (/evidence="ECO:0000255|PROSITE--)
  • Interpro: IPR022735  IPR001715  IPR036872  IPR029944  IPR019448  
  • Prosite: PS51848 PS51840 PS50021
  • CDD: cd00014
  • PDB: 2D89
  • PDBsum: 2D89
  • STRING: ENSP00000263991
• Other Databases: GeneCards:  EHBP1  Malacards:  EHBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005815	microtubule organizing center	IBA	cellular component
GO:0031941	filamentous actin	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq