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

Show/Hide all (1)

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

123

Show/Hide all (123)

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

Show/Hide all (44)

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 33	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia, autosomal dominant	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic tetraparesis	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZFYVE27-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30283000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30283000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	24451228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	36573383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	36573383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spastic Paraplegia 33, Autosomal Dominant	Spastic Paraplegia	UNIPROT_DG	16826525, 18606302, 23969831, 24668814		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 33, Autosomal Dominant	Spastic Paraplegia	GENOMICS_ENGLAND_DG	29980238		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 33, Autosomal Dominant	Spastic Paraplegia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 33, Autosomal Dominant	Spastic Paraplegia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	16826525, 31406056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	LHGDN	16826525		★★★★★ ★☆☆☆☆ Found in Text Mining only

ZFYVE27 (zinc finger FYVE-type containing 27)