Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	118813
Gene name	Zinc finger FYVE-type containing 27
Gene symbol	ZFYVE27
Synonyms (NCBI Gene)	PROTRUDINSPG33
Chromosome	10
Chromosome location	10q24.2
Summary	This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with heredi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1085307948	G>A	Likely-pathogenic	Intron variant, splice donor variant

123

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miRTarBase ID	miRNA	Experiments	Reference
MIRT042621	hsa-miR-423-3p	CLASH	23622248
MIRT041333	hsa-miR-193b-3p	CLASH	23622248
MIRT040082	hsa-miR-615-3p	CLASH	23622248
MIRT454522	hsa-miR-5586-3p	PAR-CLIP	23592263
MIRT454523	hsa-miR-4476	PAR-CLIP	23592263
MIRT454521	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT454520	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT454518	hsa-miR-5586-5p	PAR-CLIP	23592263
MIRT454519	hsa-miR-1207-3p	PAR-CLIP	23592263
MIRT454517	hsa-miR-4267	PAR-CLIP	23592263
MIRT454516	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT454515	hsa-miR-3179	PAR-CLIP	23592263
MIRT454513	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT454514	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT454512	hsa-miR-3135b	PAR-CLIP	23592263
MIRT454511	hsa-miR-4533	PAR-CLIP	23592263
MIRT454510	hsa-miR-3202	PAR-CLIP	23592263
MIRT454508	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT454509	hsa-miR-4306	PAR-CLIP	23592263
MIRT454507	hsa-miR-4644	PAR-CLIP	23592263
MIRT454506	hsa-miR-5192	PAR-CLIP	23592263
MIRT454505	hsa-miR-4271	PAR-CLIP	23592263
MIRT454503	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT454504	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT454502	hsa-miR-3915	PAR-CLIP	23592263
MIRT454522	hsa-miR-5586-3p	PAR-CLIP	23592263
MIRT454523	hsa-miR-4476	PAR-CLIP	23592263
MIRT454521	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT454520	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT454518	hsa-miR-5586-5p	PAR-CLIP	23592263
MIRT454519	hsa-miR-1207-3p	PAR-CLIP	23592263
MIRT454517	hsa-miR-4267	PAR-CLIP	23592263
MIRT454516	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT454515	hsa-miR-3179	PAR-CLIP	23592263
MIRT454513	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT454514	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT454512	hsa-miR-3135b	PAR-CLIP	23592263
MIRT454511	hsa-miR-4533	PAR-CLIP	23592263
MIRT454510	hsa-miR-3202	PAR-CLIP	23592263
MIRT454508	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT454509	hsa-miR-4306	PAR-CLIP	23592263
MIRT454507	hsa-miR-4644	PAR-CLIP	23592263
MIRT454506	hsa-miR-5192	PAR-CLIP	23592263
MIRT454505	hsa-miR-4271	PAR-CLIP	23592263
MIRT454503	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT454504	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT454502	hsa-miR-3915	PAR-CLIP	23592263
MIRT1512720	hsa-miR-1193	CLIP-seq
MIRT1512721	hsa-miR-4434	CLIP-seq
MIRT1512722	hsa-miR-4516	CLIP-seq
MIRT1512723	hsa-miR-4531	CLIP-seq
MIRT1512724	hsa-miR-4534	CLIP-seq
MIRT1512725	hsa-miR-4773	CLIP-seq
MIRT1512726	hsa-miR-1912	CLIP-seq
MIRT1512727	hsa-miR-1915	CLIP-seq
MIRT1512728	hsa-miR-3130-5p	CLIP-seq
MIRT1512729	hsa-miR-3158-3p	CLIP-seq
MIRT1512730	hsa-miR-361-3p	CLIP-seq
MIRT1512731	hsa-miR-4436a	CLIP-seq
MIRT1512732	hsa-miR-4482	CLIP-seq
MIRT1512733	hsa-miR-4704-5p	CLIP-seq
MIRT1512727	hsa-miR-1915	CLIP-seq
MIRT2154467	hsa-miR-4514	CLIP-seq
MIRT2154468	hsa-miR-4645-5p	CLIP-seq
MIRT2154469	hsa-miR-4673	CLIP-seq
MIRT2154470	hsa-miR-4692	CLIP-seq
MIRT2154471	hsa-miR-4726-3p	CLIP-seq
MIRT2397396	hsa-miR-3978	CLIP-seq
MIRT2397397	hsa-miR-4694-3p	CLIP-seq
MIRT2397398	hsa-miR-4738-3p	CLIP-seq
MIRT2397399	hsa-miR-548g	CLIP-seq
MIRT2463975	hsa-miR-2355-5p	CLIP-seq
MIRT2463976	hsa-miR-3152-5p	CLIP-seq
MIRT2463977	hsa-miR-4763-5p	CLIP-seq
MIRT2463978	hsa-miR-4780	CLIP-seq
MIRT2463979	hsa-miR-596	CLIP-seq
MIRT2463980	hsa-miR-623	CLIP-seq
MIRT2463975	hsa-miR-2355-5p	CLIP-seq
MIRT2463976	hsa-miR-3152-5p	CLIP-seq
MIRT2463977	hsa-miR-4763-5p	CLIP-seq
MIRT2463978	hsa-miR-4780	CLIP-seq
MIRT2463979	hsa-miR-596	CLIP-seq
MIRT2463980	hsa-miR-623	CLIP-seq
MIRT2667245	hsa-miR-4323	CLIP-seq
MIRT2667246	hsa-miR-129-3p	CLIP-seq
MIRT1512727	hsa-miR-1915	CLIP-seq
MIRT2463975	hsa-miR-2355-5p	CLIP-seq
MIRT2667247	hsa-miR-3064-3p	CLIP-seq
MIRT2463976	hsa-miR-3152-5p	CLIP-seq
MIRT2667248	hsa-miR-3176	CLIP-seq
MIRT2667249	hsa-miR-3651	CLIP-seq
MIRT2667250	hsa-miR-3672	CLIP-seq
MIRT2667251	hsa-miR-3909	CLIP-seq
MIRT2667252	hsa-miR-3914	CLIP-seq
MIRT2667253	hsa-miR-3922-3p	CLIP-seq
MIRT2667254	hsa-miR-4308	CLIP-seq
MIRT2667255	hsa-miR-4685-5p	CLIP-seq
MIRT2667256	hsa-miR-4687-5p	CLIP-seq
MIRT2667257	hsa-miR-4690-3p	CLIP-seq
MIRT2667258	hsa-miR-4691-5p	CLIP-seq
MIRT2154471	hsa-miR-4726-3p	CLIP-seq
MIRT2463977	hsa-miR-4763-5p	CLIP-seq
MIRT2463978	hsa-miR-4780	CLIP-seq
MIRT2463979	hsa-miR-596	CLIP-seq
MIRT2463980	hsa-miR-623	CLIP-seq
MIRT2667259	hsa-miR-665	CLIP-seq
MIRT2667260	hsa-miR-711	CLIP-seq
MIRT2667261	hsa-miR-873	CLIP-seq
MIRT2667246	hsa-miR-129-3p	CLIP-seq
MIRT1512726	hsa-miR-1912	CLIP-seq
MIRT1512728	hsa-miR-3130-5p	CLIP-seq
MIRT2667249	hsa-miR-3651	CLIP-seq
MIRT2667250	hsa-miR-3672	CLIP-seq
MIRT2667251	hsa-miR-3909	CLIP-seq
MIRT2667254	hsa-miR-4308	CLIP-seq
MIRT1512732	hsa-miR-4482	CLIP-seq
MIRT2667255	hsa-miR-4685-5p	CLIP-seq
MIRT2667256	hsa-miR-4687-5p	CLIP-seq
MIRT2667257	hsa-miR-4690-3p	CLIP-seq
MIRT2667258	hsa-miR-4691-5p	CLIP-seq
MIRT1512733	hsa-miR-4704-5p	CLIP-seq
MIRT2667259	hsa-miR-665	CLIP-seq
MIRT2667260	hsa-miR-711	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17082457, 18459960, 19289470, 21976701, 23969831, 24668814, 25855459, 32296183, 33961781, 35271311
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	19289470
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	23969831
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IDA	21976701
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031175	Process	Neuron projection development	IBA
GO:0031175	Process	Neuron projection development	IDA	17082457
GO:0032584	Component	Growth cone membrane	IBA
GO:0032584	Component	Growth cone membrane	IEA
GO:0032584	Component	Growth cone membrane	ISS
GO:0042802	Function	Identical protein binding	IPI	23969831
GO:0042995	Component	Cell projection	IEA
GO:0045773	Process	Positive regulation of axon extension	IBA
GO:0045773	Process	Positive regulation of axon extension	IEA
GO:0045773	Process	Positive regulation of axon extension	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	IBA
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	ISS
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055038	Component	Recycling endosome membrane	ISS
GO:0071782	Component	Endoplasmic reticulum tubular network	IBA
GO:0071782	Component	Endoplasmic reticulum tubular network	IDA	23969831, 24668814
GO:0071782	Component	Endoplasmic reticulum tubular network	IEA
GO:0071787	Process	Endoplasmic reticulum tubular network formation	IBA
GO:0071787	Process	Endoplasmic reticulum tubular network formation	IEA
GO:0071787	Process	Endoplasmic reticulum tubular network formation	IMP	23969831, 24668814
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	ISS

MIM	HGNC	e!Ensembl
610243	26559	ENSG00000155256

Q5T4F4

Protein name

Protrudin (Spastic paraplegia 33 protein) (Zinc finger FYVE domain-containing protein 27)

Protein function

Key regulator of RAB11-dependent vesicular trafficking during neurite extension through polarized membrane transport (PubMed:17082457). Promotes axonal elongation and contributes to the establishment of neuronal cell polarity (By similarity). In

PDB

1X4U

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01363	FYVE	339 → 411	FYVE zinc finger	Domain

Sequence

MQTSEREGSGPELSPSVMPEAPLESPPFPTKSPAFDLFNLVLSYKRLEIYLEPLKDAGDG
VRYLLRWQMPLCSLLTCLGLNVLFLTLNEGAWYSVGALMISVPALLGYLQEVCRARLPDS
ELMRRKYHSVRQEDLQRGRLSRPEAVAEVKSFLIQLEAFLSRLCCTCEAAYRVLHWENPV
VSSQFYGALLGTVCMLYLLPLCWVLTLLNSTLFLGNVEFFRVVSEYRASLQQRMNPKQEE
HAFESPPPPDVGGKDGLMDSTPALTPTEDLTPGSVEEAEEAEPDEEFKDAIEETHLVVLE
DDEGAPCPAEDELALQDNGFLSKNEVLRSKVSRLTERLRKRYPTNNFGNCTGCSATFSVL
KKRRSCSNCGNSFCSRCCSFKVPKSSMGATAPEAQRETVFVCASCNQTLSK

Sequence length

411

Interactions

View interactions

	KEGG
	Endocytosis

197

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	rs35077384, rs182925118	RCV005887167 RCV005928502
Cervical cancer	Conflicting classifications of pathogenicity; Benign	rs35077384, rs182925118	RCV005887171 RCV005928504
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs35077384	RCV005887181
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs35077384	RCV005887166
Colorectal cancer	Conflicting classifications of pathogenicity	rs35077384	RCV005887173
Gastric cancer	Conflicting classifications of pathogenicity	rs35077384	RCV005887175
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs3750614, rs35077384	RCV005921695 RCV005887168
Hereditary spastic paraplegia 33	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs3750614, rs17108378, rs75060573, rs10882993, rs35077384, rs2540911520, rs140812293, rs17419023, rs143634539, rs766719967, rs763464659, rs145746084, rs143515214, rs768113258, rs115982037 View all (60 more)	RCV002243385 RCV000289612 RCV000344472 RCV000290843 RCV000001352 RCV002289367 RCV000625083 RCV000379322 RCV003139402 RCV003139403 RCV000394403 RCV000350457 RCV000401660 RCV000268413 RCV000382564 RCV000334693 RCV000359166 RCV000399671 RCV000305583 RCV000360341 RCV000270394 RCV000271494 RCV000278817 RCV000369082 RCV000323336 RCV000383554 RCV000349026 RCV000277304 RCV000318508 RCV000401383 RCV000262554 RCV000397939 RCV000279613 RCV000385685 RCV000373361 RCV000377816 RCV000324523 RCV000315547 RCV000357425 RCV000322386 RCV000358387 RCV000288249 RCV000329253 RCV000294108 RCV000397894 RCV000299582 RCV000366072 RCV000331149 RCV000332285 RCV000338557 RCV001104688 RCV001102776 RCV001104690 RCV001108096 RCV001108097 RCV001108098 RCV001102875 RCV001102876 RCV001104803 RCV001105941 RCV001105942 RCV001105943 RCV001105944 RCV001105945 RCV001108170 RCV001108171 RCV001108172 RCV001102977 RCV001102978 RCV001104880 RCV001104881 RCV001104882 RCV001106049 RCV001102775 RCV001104689 RCV001108095 RCV001195764
Lung cancer	Conflicting classifications of pathogenicity	rs35077384	RCV005887182
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign	rs35077384, rs182925118	RCV005887169 RCV005928503
Melanoma	Conflicting classifications of pathogenicity	rs35077384	RCV005887180
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs35077384	RCV005887170
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs35077384, rs1442129328	RCV005887176 RCV005900132
Sarcoma	Conflicting classifications of pathogenicity	rs35077384	RCV005887174
Spastic paraplegia	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs2048607269, rs150951341, rs897824220, rs753887094, rs199770845, rs3750614, rs927949688, rs17108378, rs75060573, rs10882993, rs2136198619, rs769322350, rs2046602733, rs374171984, rs117049029 View all (69 more)	RCV001344023 RCV001397432 RCV001453301 RCV001470213 RCV001474091 RCV002073150 RCV001895930 RCV000467824 RCV000205019 RCV000860144 RCV001980142 RCV001917143 RCV001986112 RCV002136377 RCV002104814 RCV002111210 RCV002104116 RCV002093782 RCV000471962 RCV002101396 RCV002298145 RCV003064335 RCV003069765 RCV003079905 RCV003078283 RCV003071889 RCV002691044 RCV002805838 RCV002805621 RCV002866724 RCV005089990 RCV000200396 RCV002979930 RCV002998829 RCV000204398 RCV000228120 RCV005399343 RCV003590678 RCV003590592 RCV003590876 RCV003590883 RCV003590803 RCV003589371 RCV003751190 RCV003752492 RCV003752578 RCV003752565 RCV003750487 RCV003750462 RCV003751326 RCV003751398 RCV003815988 RCV000477157 RCV000633113 RCV003843541 RCV000860703 RCV000860348 RCV002056162 RCV002520657 RCV000545447 RCV000462621 RCV002520656 RCV000863326 RCV000530724 RCV000633013 RCV000678473 RCV000707739 RCV000688093 RCV000696986 RCV000691610 RCV000696484 RCV000694004 RCV000813375 RCV000809774 RCV000812288 RCV002064426 RCV001056370 RCV001070012 RCV001037125 RCV001856443 RCV002556116 RCV001213318 RCV001207492 RCV001235360
Spastic paraplegia, autosomal dominant	Likely benign	rs373113574	RCV000325427
Spastic tetraparesis	Conflicting classifications of pathogenicity	rs35077384	RCV000415084
Thymoma	Conflicting classifications of pathogenicity	rs35077384	RCV005887178
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs35077384	RCV005887179
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs35077384	RCV005887177
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs35077384	RCV005887183
Uveal melanoma	Conflicting classifications of pathogenicity	rs35077384	RCV005887172
ZFYVE27-related disorder	Likely benign	rs150951341	RCV003953711

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	30283000
Neoplasms	Associate	32479595
Paraplegia	Associate	36573383
Sarcopenia	Associate	36573383

ZFYVE27 (zinc finger FYVE-type containing 27)