ZFYVE27 - zinc finger FYVE-type containing 27 Gene

Homo sapiens

Also known as SPG33; PROTRUDIN

Gene ID: 118813 | Gene type: protein coding

About ZFYVE27

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:97,737,128-97,760,895 (from NCBI)

This gene has 12 transcripts (splice variants), 201 orthologues and is associated with 1 phenotype. Ubiquitous expression in small intestine (RPKM 6.9), duodenum (RPKM 6.9) and 25 other tissues.

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 hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]

ZFYVE27 Products(46)

mRNA	Protein	Name
NM_001002261.4	NP_001002261.1	protrudin isoform 1
NM_001002262.4	NP_001002262.1	protrudin isoform 3
NM_001174119.2	NP_001167590.1	protrudin isoform 4
NM_001174120.2	NP_001167591.1	protrudin isoform 5
NM_001174121.2	NP_001167592.1	protrudin isoform 6
NM_001174122.2	NP_001167593.1	protrudin isoform 7
NM_001385871.1	NP_001372800.1	protrudin isoform 1
NM_001385875.1	NP_001372804.1	protrudin isoform 2
NM_001385876.1	NP_001372805.1	protrudin isoform 8
NM_001385877.1	NP_001372806.1	protrudin isoform 9
NM_001385878.1	NP_001372807.1	protrudin isoform 10
NM_001385879.1	NP_001372808.1	protrudin isoform 10
NM_001385880.1	NP_001372809.1	protrudin isoform 3
NM_001385881.1	NP_001372810.1	protrudin isoform 15
NM_001385882.1	NP_001372811.1	protrudin isoform 11
NM_001385883.1	NP_001372812.1	protrudin isoform 12
NM_001385884.1	NP_001372813.1	protrudin isoform 12
NM_001385885.1	NP_001372814.1	protrudin isoform 13
NM_001385886.1	NP_001372815.1	protrudin isoform 14
NM_001385887.1	NP_001372816.1	protrudin isoform 16
NM_001385888.1	NP_001372817.1	protrudin isoform 16
NM_001385889.1	NP_001372818.1	protrudin isoform 17
NM_001385890.1	NP_001372819.1	protrudin isoform 18
NM_001385891.1	NP_001372820.1	protrudin isoform 18
NM_001385892.1	NP_001372821.1	protrudin isoform 19
NM_001385893.1	NP_001372822.1	protrudin isoform 20
NM_001385894.1	NP_001372823.1	protrudin isoform 20
NM_001385895.1	NP_001372824.1	protrudin isoform 20
NM_001385896.1	NP_001372825.1	protrudin isoform 21
NM_001385897.1	NP_001372826.1	protrudin isoform 21
NM_001385898.1	NP_001372827.1	protrudin isoform 21
NM_001385899.1	NP_001372828.1	protrudin isoform 22
NM_001385900.1	NP_001372829.1	protrudin isoform 22
NM_001385901.1	NP_001372830.1	protrudin isoform 23
NM_001385902.1	NP_001372831.1	protrudin isoform 23
NM_001385903.1	NP_001372832.1	protrudin isoform 24
NM_001385904.1	NP_001372833.1	protrudin isoform 24
NM_001385905.1	NP_001372834.1	protrudin isoform 25
NM_001385906.1	NP_001372835.1	protrudin isoform 26
NM_001385908.1	NP_001372837.1	protrudin isoform 26
NM_001385911.1	NP_001372840.1	protrudin isoform 27
NM_001385915.1	NP_001372844.1	protrudin isoform 6
NM_001385916.1	NP_001372845.1	protrudin isoform 28
NM_001385918.1	NP_001372847.1	protrudin isoform 29
NM_001385919.1	NP_001372848.1	protrudin isoform 30
NM_144588.7	NP_653189.3	protrudin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	23969831	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17082457	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in endoplasmic reticulum tubular network formation	IMP IMP: Inferred from mutant phenotype	23969831	GOA
involved in neuron projection development	IDA IDA: Inferred from direct assay	17082457	GOA
involved in vesicle-mediated transport	IDA IDA: Inferred from direct assay	21976701	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	19289470	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	23969831	GOA
located in endoplasmic reticulum tubular network	IDA IDA: Inferred from direct assay	23969831	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ZFYVE27 Protein Structure

FYVE

0
100
200
300
411 a.a.

Protein Preferred Names

Protein Names

protrudin

spastic paraplegia 33 protein

ZFYVE27 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ZFYVE27	Q5T4F4	ORMDL1	Homo sapiens	Q9P0S3	Validated Y2H	32296183
Intra	ZFYVE27	Q5T4F4	VAPA	Homo sapiens	Q9P0L0	Anti Tag CoIP	19289470
Intra	ZFYVE27	Q5T4F4	VAPA	Homo sapiens	Q9P0L0	Pull Down	19289470
Intra	ZFYVE27	Q5T4F4	VAPA	Homo sapiens	Q9P0L0	Anti Tag CoIP	33961781
Intra	ZFYVE27	Q5T4F4	VAPB	Homo sapiens	O95292	Anti Tag CoIP	19289470
Intra	ZFYVE27	Q5T4F4	GIMAP1	Homo sapiens	Q8WWP7	Validated Y2H	32296183
Intra	ZFYVE27	Q5T4F4	SPAST	Homo sapiens	Q9UBP0	Anti Tag CoIP	23969831
Intra	ZFYVE27	Q5T4F4	SPAST	Homo sapiens	Q9UBP0	Confocal	23969831
Intra	ZFYVE27	Q5T4F4	OTOP3	Homo sapiens	Q7RTS5	Validated Y2H	32296183
Intra	ZFYVE27	Q5T4F4	TMEM243	Homo sapiens	Q9BU79	Validated Y2H	32296183
Intra	ZFYVE27	Q5T4F4	REEP5	Homo sapiens	Q00765	Confocal	23969831
Intra	ZFYVE27	Q5T4F4	REEP5	Homo sapiens	Q00765	Anti Tag CoIP	23969831
Intra	ZFYVE27	Q5T4F4	REEP5	Homo sapiens	Q00765	Anti Bait CoIP	23969831
Intra	ZFYVE27	Q5T4F4	REEP1	Homo sapiens	Q9H902	Anti Tag CoIP	23969831
Intra	ZFYVE27	Q5T4F4	TMEM14C	Homo sapiens	Q9P0S9	Validated Y2H	32296183
Intra	ZFYVE27	Q5T4F4	ATL1	Homo sapiens	Q8WXF7	Anti Tag CoIP	23969831
Intra	ZFYVE27	Q5T4F4	ATL1	Homo sapiens	Q8WXF7	Anti Bait CoIP	23969831
Intra	ZFYVE27	Q5T4F4	ATL1	Homo sapiens	Q8WXF7	Confocal	23969831
Intra	ZFYVE27	Q5T4F4	ATL2	Homo sapiens	Q8NHH9	Anti Bait CoIP	23969831
Intra	ZFYVE27	Q5T4F4	ATL2	Homo sapiens	Q8NHH9	Anti Tag CoIP	23969831
Intra	ZFYVE27	Q5T4F4	PIP4P2	Homo sapiens	Q8N4L2	Validated Y2H	32296183
Intra	ZFYVE27	Q5T4F4	FKBP8	Homo sapiens	Q14318	Anti Tag CoIP	18459960
Intra	ZFYVE27	Q5T4F4	FKBP8	Homo sapiens	Q14318	Y2H	18459960
Intra	ZFYVE27	Q5T4F4	SLC66A2	Homo sapiens	Q8N2U9	Validated Y2H	32296183
Intra	ZFYVE27	Q5T4F4	SACM1L	Homo sapiens	Q9NTJ5	Validated Y2H	32296183
Intra	ZFYVE27	Q5T4F4	ATL3	Homo sapiens	Q6DD88	Anti Bait CoIP	23969831
Intra	ZFYVE27	Q5T4F4	ATL3	Homo sapiens	Q6DD88	Anti Tag CoIP	23969831
Intra	ZFYVE27	Q5T4F4	GIMAP5	Homo sapiens	Q96F15	Validated Y2H	32296183
Intra	ZFYVE27	Q5T4F4	TMEM65	Homo sapiens	Q6PI78	Validated Y2H	32296183
Intra	ZFYVE27	Q5T4F4	IER3IP1	Homo sapiens	Q9Y5U9	Validated Y2H	32296183
Intra	ZFYVE27	Q5T4F4	RAB11A	Homo sapiens	P62491	Confocal	17082457
Intra	ZFYVE27	Q5T4F4	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Spastic Paraplegia 33, Autosomal Dominant

SPG33	Hereditary Spastic Paraplegia 33
Autosomal Dominant Spastic Paraplegia 33	Paraplegia, Spastic, Type 33, Autosomal Dominant

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spinal Cord Neuroblastoma

Neuroblastoma Of The Spinal Cord

Spinal Cord Primitive Neuroectodermal Neoplasm

Spinal Cord Pnet

Spinal Cord Primitive Neuroectodermal Tumor

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Spastic Paraplegia 41, Autosomal Dominant

SPG41	Hereditary Spastic Paraplegia 41
Autosomal Dominant Spastic Paraplegia Type 41	Autosomal Dominant Spastic Paraplegia 41

Spastic Paraplegia 2, X-Linked

SPG2	Hereditary Spastic Paraplegia 2
Sppx2	Spastic Paraplegia Type 2
Spastic Paraplegia 2	Hereditary X-Linked Recessive Spastic Paraplegia
X-Linked Spastic Paraplegia 2	X Linked Recessive Hereditary Spastic Paraplegia
Spastic Gait Type 2	Spastic Paraparesis Type 2
X-Linked Spastic Paraplegia Type 2	Spastic Paraplegia Type 2, X-Linked
Spastic Paraplegia-2	Paraplegia, Spastic, Type 2

Cone-Rod Dystrophy 5

CORD5

Dystrophy, Cone-Rod, Type 5

Spastic Paraplegia 10, Autosomal Dominant

SPG10	Hereditary Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia Type 10	Spastic Paraplegia 10
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy	Autosomal Dominant Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia	Spastic Paraplegia, Autosomal Dominant
Paraplegia, Spastic, Autosomal Dominant, Type 10

Spastic Paraplegia 9a, Autosomal Dominant

Hereditary Spastic Paraplegia 9a	SPG9A
Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities	Ad-Spg9a
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome	Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux
Autosomal Dominant Complex Spastic Paraplegia Type 9a	Autosomal Dominant Spastic Paraplegia 9a
Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome	Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities
Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux	Autosomal Dominant Spastic Paraplegia Type 9a
Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome	Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
Spastic Paraplegia 9, Autosomal Dominant

Spastic Paraplegia 44, Autosomal Recessive

SPG44	Hereditary Spastic Paraplegia 44
Autosomal Recessive Spastic Paraplegia 44	Autosomal Recessive Spastic Paraplegia Type 44
Paraplegia, Spastic, Type 44, Autosomal Recessive

Spastic Paraplegia 42, Autosomal Dominant

SPG42	Hereditary Spastic Paraplegia 42
Autosomal Dominant Spastic Paraplegia Type 42	Autosomal Dominant Spastic Paraplegia 42
Paraplegia, Spastic, Type 42, Autosomal Dominant

Spastic Paraplegia 43, Autosomal Recessive

SPG43	Hereditary Spastic Paraplegia 43
Autosomal Recessive Spastic Paraplegia Type 43	Autosomal Recessive Spastic Paraplegia 43
Paraplegia, Spastic, Type 43, Autosomal Recessive

Masa Syndrome

L1 Syndrome	Crash Syndrome
X-Linked Hydrocephalus Syndrome	SPG1
Gareis-Mason Syndrome	Spastic Paraplegia 1, X-Linked
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome	L1cam Syndrome
Spastic Paraplegia 1	Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
Clasped Thumb And Mental Retardation	Thumb, Congenital Clasped, With Mental Retardation
Adducted Thumb With Mental Retardation	Hereditary Spastic Paraplegia 1
X-Linked Complicated Hereditary Spastic Paraplegia Type 1	X-Linked Corpus Callosum Agenesis
X-Linked Spastic Paraplegia 1	L1 Disease
X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis	Adducted Thumb With Intellectual Disability
Clasped Thumb And Intellectual Disability	Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs
Thumb Congenital Clasped With Intellectual Disability	X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome
Adducted Thumbs-Mental Retardation Syndrome	Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome
Mental Retardation-Clasped Thumb Syndrome	Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
Spastic Paraplegia Type 1, X-Linked	MASA
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus	Crash
Masa Syndrome

Progesterone-Receptor Negative Breast Cancer

Spastic Ataxia

Spax	Ataxia, Spastic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16060	ZFYVE27 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ZFYVE27	VGNC	VGNC:48627
Rattus norvegicus	ZFYVE27	RGD	RGD:735177
Bos taurus	ZFYVE27	VGNC	VGNC:37177
Mus musculus	ZFYVE27	MGD	MGI:1919602
Felis catus	ZFYVE27	VGNC	VGNC:67242
Macaca mulatta	ZFYVE27	VGNC	VGNC:79623

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