2. Gene
  3. ZFYVE27 - zinc finger FYVE-type containing 27 Gene

ZFYVE27 - zinc finger FYVE-type containing 27 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含锌指 FYVE 型 27

种属: Homo sapiens

同用名: SPG33; PROTRUDIN

基因 ID: 118813 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质具有多个跨膜结构域、一个 Rab11 结合结构域和一个脂质结合 FYVE 指状结构域。编码的蛋白质似乎促进神经突形成。据报道，该基因的突变与遗传性痉挛性截瘫有关，但该突变的致病性可能仅代表多态性，尚不清楚。[RefSeq 提供，2010 年 3 月]

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 基因产物(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

ZFYVE27 蛋白结构

FYVE

FYVE: FYVE zinc finger (343 - 410)

  • 0
  • 100
  • 200
  • 300
  • 411 a.a.
蛋白主名 其他名称

protrudin

spastic paraplegia 33 protein

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS16060 ZFYVE27 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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