• Gene id: 55081

Gene Summary

• Gene Symbol: IFT57   Gene   UCSC   Ensembl
• Aliases: ESRRBL1, HIPPI, MHS4R2, OFD18
• Gene name: intraflagellar transport 57
• Alternate names: intraflagellar transport protein 57 homolog, HIP1 protein interactor, HIP1-interacting protein, dermal papilla-derived protein 8, estrogen-related receptor beta like 1, estrogen-related receptor beta-like protein 1, huntingtin interacting protein-1 interacting ,
• Gene location: 3q13.12-q13.13 (108222423: 108160811)     Exons: 11     NC_000003.12
• OMIM: 606621

Protein Summary

• Protein general information: Q9NWB7  
  • Name: Intraflagellar transport protein 57 homolog (Dermal papilla derived protein 8) (Estrogen related receptor beta like protein 1) (HIP1 interacting protein) (MHS4R2)
  • Length: 429  
  • Mass: 49108
  • Tissue specificity: Present in many tissues such as brain, thymus, lymph node, lung, liver, skin and kidney (at protein level). {ECO
• Sequence:

  MTAALAVVTTSGLEDGVPRSRGEGTGEVVLERGPGAAYHMFVVMEDLVEKLKLLRYEEEFLRKSNLKAPSRHYFA
  LPTNPGEQFYMFCTLAAWLINKAGRPFEQPQEYDDPNATISNILSELRSFGRTADFPPSKLKSGYGEHVCYVLDC
  FAEEALKYIGFTWKRPIYPVEELEEESVAEDDAELTLNKVDEEFVEEETDNEENFIDLNVLKAQTYHLDMNETAK
  QEDILESTTDAAEWSLEVERVLPQLKVTIRTDNKDWRIHVDQMHQHRSGIESALKETKGFLDKLHNEITRTLEKI
  SSREKYINNQLENLVQEYRAAQAQLSEAKERYQQGNGGVTERTRLLSEVMEELEKVKQEMEEKGSSMTDGAPLVK
  IKQSLTKLKQETVEMDIRIGIVEHTLLQSKLKEKSNMTRNMHATVIPEPATGFY

• Structural information:
  • Interpro: IPR019530  
  • STRING: ENSP00000264538
• Other Databases: GeneCards:  IFT57  Malacards:  IFT57

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005813	centrosome	IBA	cellular component
GO:0042073	intraciliary transport	IBA	biological process
GO:0005929	cilium	IBA	cellular component
GO:0030992	intraciliary transport particle B	IBA	cellular component
GO:1905515	non-motile cilium assembly	IBA	biological process
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0042981	regulation of apoptotic process	IDA	biological process
GO:0006915	apoptotic process	IDA	biological process
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	TAS	biological process
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	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:0005515	protein binding	IPI	molecular function
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0044292	dendrite terminus	IEA	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0005930	axoneme	IEA	cellular component
GO:0005813	centrosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0001947	heart looping	IEA	biological process
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0060972	left/right pattern formation	IEA	biological process
GO:0044458	motile cilium assembly	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0030992	intraciliary transport particle B	IEA	cellular component
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0001843	neural tube closure	IEA	biological process
GO:0036064	ciliary basal body	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease

Diseases

Associated diseases	References
Oral-facial-digital syndrome	KEGG:H00454
Oral-facial-digital syndrome	KEGG:H00454
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R