IFT57 (intraflagellar transport 57)

Gene

• Entrez ID: 55081
• Gene name: Intraflagellar transport 57
• Gene symbol: IFT57
• Synonyms (NCBI Gene): ESRRBL1, HIPPI, MHS4R2, OFD18
• Disease Acronyms (UniProt): OFD18
• Chromosome: 3
• Chromosome location: 3q13.12-q13.13

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553741312	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs1560127636	T>C	Likely-pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1061067	hsa-miR-1915	CLIP-seq
MIRT1061068	hsa-miR-203	CLIP-seq
MIRT1061069	hsa-miR-2052	CLIP-seq
MIRT1061070	hsa-miR-3672	CLIP-seq
MIRT1061071	hsa-miR-4307	CLIP-seq
MIRT1061072	hsa-miR-4328	CLIP-seq
MIRT1061073	hsa-miR-4461	CLIP-seq
MIRT1061074	hsa-miR-448	CLIP-seq
MIRT1061075	hsa-miR-4726-3p	CLIP-seq
MIRT1061076	hsa-miR-501-3p	CLIP-seq
MIRT1061077	hsa-miR-502-3p	CLIP-seq
MIRT2014275	hsa-miR-103a	CLIP-seq
MIRT2014276	hsa-miR-107	CLIP-seq
MIRT2014277	hsa-miR-1184	CLIP-seq
MIRT2014278	hsa-miR-1205	CLIP-seq
MIRT2014279	hsa-miR-1252	CLIP-seq
MIRT2014280	hsa-miR-15a	CLIP-seq
MIRT2014281	hsa-miR-15b	CLIP-seq
MIRT2014282	hsa-miR-16	CLIP-seq
MIRT2014283	hsa-miR-195	CLIP-seq
MIRT2014284	hsa-miR-2277-3p	CLIP-seq
MIRT2014285	hsa-miR-298	CLIP-seq
MIRT2014286	hsa-miR-3158-5p	CLIP-seq
MIRT2014287	hsa-miR-424	CLIP-seq
MIRT2014288	hsa-miR-4504	CLIP-seq
MIRT2014289	hsa-miR-497	CLIP-seq
MIRT2014290	hsa-miR-542-3p	CLIP-seq
MIRT2014291	hsa-miR-548c-3p	CLIP-seq
MIRT1061070	hsa-miR-3672	CLIP-seq
MIRT2246481	hsa-miR-4255	CLIP-seq
MIRT1061073	hsa-miR-4461	CLIP-seq
MIRT2246482	hsa-miR-4476	CLIP-seq
MIRT1061074	hsa-miR-448	CLIP-seq
MIRT1061076	hsa-miR-501-3p	CLIP-seq
MIRT1061077	hsa-miR-502-3p	CLIP-seq
MIRT2550010	hsa-miR-196a	CLIP-seq
MIRT2550011	hsa-miR-196b	CLIP-seq
MIRT2550012	hsa-miR-3140-3p	CLIP-seq
MIRT2550013	hsa-miR-3647-3p	CLIP-seq
MIRT2550014	hsa-miR-4477a	CLIP-seq
MIRT2550015	hsa-miR-944	CLIP-seq
MIRT2550010	hsa-miR-196a	CLIP-seq
MIRT2550011	hsa-miR-196b	CLIP-seq
MIRT2550012	hsa-miR-3140-3p	CLIP-seq
MIRT2550013	hsa-miR-3647-3p	CLIP-seq
MIRT2550014	hsa-miR-4477a	CLIP-seq
MIRT2550015	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	IEA
GO:0001947	Process	Heart looping	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11788820, 18188704, 24705354, 32296183, 32814053
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005929	Component	Cilium	IBA	21873635
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IEA
GO:0006915	Process	Apoptotic process	IDA	11788820
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	11788820
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0030992	Component	Intraciliary transport particle B	IBA	21873635
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0035735	Process	Intraciliary transport involved in cilium assembly	TAS
GO:0036064	Component	Ciliary basal body	ISS
GO:0042073	Process	Intraciliary transport	IBA	21873635
GO:0042981	Process	Regulation of apoptotic process	IDA	11788820
GO:0044292	Component	Dendrite terminus	IEA
GO:0044458	Process	Motile cilium assembly	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0060972	Process	Left/right pattern formation	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:1905515	Process	Non-motile cilium assembly	IBA	21873635

Other IDs

• MIM: 606621
• HGNC: 17367
• e!Ensembl: ENSG00000114446

Protein

• UniProt ID: Q9NWB7
• Protein name: Intraflagellar transport protein 57 homolog (Dermal papilla-derived protein 8) (Estrogen-related receptor beta-like protein 1) (HIP1-interacting protein) (MHS4R2)
• Protein function: Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro-apoptotic function via its interaction with HIP1, leading to recruit
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10498	IFT57	44 → 401	Intra-flagellar transport protein 57	Family

• Tissue specificity: TISSUE SPECIFICITY: Present in many tissues such as brain, thymus, lymph node, lung, liver, skin and kidney (at protein level). {ECO:0000269|PubMed:11788820}.
• Sequence:

  MTAALAVVTTSGLEDGVPRSRGEGTGEVVLERGPGAAYHMFVVMEDLVEKLKLLRYEEEF
  LRKSNLKAPSRHYFALPTNPGEQFYMFCTLAAWLINKAGRPFEQPQEYDDPNATISNILS
  ELRSFGRTADFPPSKLKSGYGEHVCYVLDCFAEEALKYIGFTWKRPIYPVEELEEESVAE
  DDAELTLNKVDEEFVEEETDNEENFIDLNVLKAQTYHLDMNETAKQEDILESTTDAAEWS
  LEVERVLPQLKVTIRTDNKDWRIHVDQMHQHRSGIESALKETKGFLDKLHNEITRTLEKI
  SSREKYINNQLENLVQEYRAAQAQLSEAKERYQQGNGGVTERTRLLSEVMEELEKVKQEM
  EEKGSSMTDGAPLVKIKQSLTKLKQETVEMDIRIGIVEHTLLQSKLKEKSNMTRNMHATV
  IPEPATGFY

• Sequence length: 429

Pathways

KEGG:

Huntington disease
Pathways of neurodegeneration - multiple diseases

Reactome:

Hedgehog 'off' state
Intraflagellar transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Orofaciodigital syndrome	OROFACIODIGITAL SYNDROME XVIII	rs122460150, rs312262822, rs312262833, rs312262886, rs312262890, rs2139738553, rs387907273, rs793888507, rs768525869, rs312262863, rs312262868, rs312262887, rs312262821, rs312262834, rs312262845, rs312262858, rs587777067, rs587777653, rs587777654, rs149366137, rs606231258, rs606231259, rs606231260, rs375009168, rs606231261, rs730882217, rs764091969, rs752171066, rs147416429, rs749523755, rs863225159, rs141153181, rs777686211, rs869312898, rs149170427, rs886039813, rs1060500123, rs1555526172, rs1553741312, rs1555901146, rs1555900675, rs1555900734, rs1555901137, rs1555901169, rs1555904480, rs1569145145, rs1560127636, rs1174615027, rs1565237232, rs1575420160, rs1571603072, rs1602904530, rs773114666, rs1589623689, rs1602826217, rs1602942625, rs766699868
Polydactyly	POLYDACTYLY, POSTAXIAL	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987

Unknown
Disease term	Disease name	Evidence	References	Source
Metabolic Syndrome	Metabolic Syndrome			GWAS
Insomnia	Insomnia			GWAS
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Bardet Biedl Syndrome	Associate	40273360
Ciliopathies	Associate	40273360
Glioma	Associate	39201643
Growth Disorders	Associate	27060890
HEM dysplasia	Associate	27060890
Immotile cilia syndrome due to excessively long cilia	Associate	40273360
Neoplasms	Associate	39201643
Orofaciodigital Syndromes	Associate	19587378, 27060890, 40273360
Systemic carnitine deficiency	Associate	27060890
Thyroid Cancer Papillary	Associate	39201643
Thyroid Neoplasms	Associate	39201643