• Gene id: 64399

Gene Summary

• Gene Symbol: HHIP   Gene   UCSC   Ensembl
• Aliases: HIP
• Gene name: hedgehog interacting protein
• Alternate names: hedgehog-interacting protein,
• Gene location: 4q31.21 (144646153: 144745270)     Exons: 14     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns o
• OMIM: 613304

Protein Summary

• Protein general information: Q96QV1  
  • Name: Hedgehog interacting protein (HHIP) (HIP)
  • Length: 700  
  • Mass: 78851
  • Tissue specificity: Widely expressed in fetal and adult tissues. Highest expression in adult heart, liver and pancreas, and in fetal kidney. {ECO
• Sequence:

  MLKMLSFKLLLLAVALGFFEGDAKFGERNEGSGARRRRCLNGNPPKRLKRRDRRMMSQLELLSGGEMLCGGFYPR
  LSCCLRSDSPGLGRLENKIFSVTNNTECGKLLEEIKCALCSPHSQSLFHSPEREVLERDLVLPLLCKDYCKEFFY
  TCRGHIPGFLQTTADEFCFYYARKDGGLCFPDFPRKQVRGPASNYLDQMEEYDKVEEISRKHKHNCFCIQEVVSG
  LRQPVGALHSGDGSQRLFILEKEGYVKILTPEGEIFKEPYLDIHKLVQSGIKGGDERGLLSLAFHPNYKKNGKLY
  VSYTTNQERWAIGPHDHILRVVEYTVSRKNPHQVDLRTARVFLEVAELHRKHLGGQLLFGPDGFLYIILGDGMIT
  LDDMEEMDGLSDFTGSVLRLDVDTDMCNVPYSIPRSNPHFNSTNQPPEVFAHGLHDPGRCAVDRHPTDININLTI
  LCSDSNGKNRSSARILQIIKGKDYESEPSLLEFKPFSNGPLVGGFVYRGCQSERLYGSYVFGDRNGNFLTLQQSP
  VTKQWQEKPLCLGTSGSCRGYFSGHILGFGEDELGEVYILSSSKSMTQTHNGKLYKIVDPKRPLMPEECRATVQP
  AQTLTSECSRLCRNGYCTPTGKCCCSPGWEGDFCRTAKCEPACRHGGVCVRPNKCLCKKGYLGPQCEQVDRNIRR
  VTRAGILDQIIDMTSYLLDLTSYIV

• Structural information:
  • Protein Domains: (607..63-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (635..66-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"-)
  • Interpro: IPR011042  IPR013032  IPR000742  IPR018143  IPR012938   IPR011041  
  • Prosite: PS00022 PS01186 PS50026
  • PDB: 2WFT 2WFX 2WG3 2WG4 3HO3 3HO4 3HO5
  • PDBsum: 2WFT 2WFX 2WG3 2WG4 3HO3 3HO4 3HO5
  • DIP: 48536
  • STRING: ENSP00000296575
• Other Databases: GeneCards:  HHIP  Malacards:  HHIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009968	negative regulation of signal transduction	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0060441	epithelial tube branching involved in lung morphogenesis	IEA	biological process
GO:0045879	negative regulation of smoothened signaling pathway	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0007405	neuroblast proliferation	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0097108	hedgehog family protein binding	IPI	molecular function
GO:0097108	hedgehog family protein binding	IPI	molecular function
GO:0048705	skeletal system morphogenesis	ISS	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0045879	negative regulation of smoothened signaling pathway	ISS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04024	cAMP signaling pathway
hsa05217	Basal cell carcinoma
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Chronic obstructive pulmonary disease	PMID:19996190
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881