ZFYVE27 (zinc finger FYVE-type containing 27)

Gene

• Entrez ID: 118813
• Gene name: Zinc finger FYVE-type containing 27
• Gene symbol: ZFYVE27
• Synonyms (NCBI Gene): PROTRUDIN, SPG33
• Disease Acronyms (UniProt): SPG33
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17082457, 18459960, 19289470, 21976701, 23969831, 24668814, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IDA	19289470
GO:0005829	Component	Cytosol	IDA
GO:0016192	Process	Vesicle-mediated transport	IBA	21873635
GO:0016192	Process	Vesicle-mediated transport	IDA	21976701
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	23969831
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0031175	Process	Neuron projection development	IBA	21873635
GO:0031175	Process	Neuron projection development	IDA	17082457
GO:0032584	Component	Growth cone membrane	IBA	21873635
GO:0032584	Component	Growth cone membrane	ISS
GO:0042802	Function	Identical protein binding	IPI	23969831
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043621	Function	Protein self-association	IBA	21873635
GO:0043621	Function	Protein self-association	IDA	23969831
GO:0045773	Process	Positive regulation of axon extension	IBA	21873635
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	21873635
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	ISS
GO:0055038	Component	Recycling endosome membrane	ISS
GO:0071782	Component	Endoplasmic reticulum tubular network	IBA	21873635
GO:0071782	Component	Endoplasmic reticulum tubular network	IDA	23969831, 24668814
GO:0071787	Process	Endoplasmic reticulum tubular network formation	IBA	21873635
GO:0071787	Process	Endoplasmic reticulum tubular network formation	IMP	23969831, 24668814
GO:0072659	Process	Protein localization to plasma membrane	IBA	21873635
GO:0072659	Process	Protein localization to plasma membrane	ISS

Other IDs

• MIM: 610243
• HGNC: 26559
• e!Ensembl: ENSG00000155256

Protein

• UniProt ID: 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

Pathways

KEGG:

Endocytosis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Spastic paraplegia	Spastic Paraplegia, Spastic Paraplegia 33, Autosomal Dominant	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	23969831, 29980238, 18606302, 24668814, 16826525

Unknown
Disease term	Disease name	Evidence	References	Source
Spastic Paraplegia	hereditary spastic paraplegia 33			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Associate	30283000
Neoplasms	Associate	32479595
Paraplegia	Associate	36573383
Sarcopenia	Associate	36573383