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SNX27 - sorting nexin 27 Gene

Also Known as MRT1; MY014

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81609

About SNX27

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:151,612,050-151,699,080 (from NCBI)

This gene has 18 transcripts (splice variants), 271 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 9.5), kidney (RPKM 6.7) and 25 other tissues.

Summary

This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]

SNX27 Products (2)

mRNA	Protein	Name
NM_001330723.2	NP_001317652.1	sorting nexin-27 isoform 1
NM_030918.6	NP_112180.4	sorting nexin-27 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables phosphatidylinositol-3-phosphate binding	IDA IDA: Inferred from direct assay	21300787	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19555689	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in endocytic recycling	IMP IMP: Inferred from mutant phenotype	20733053	GOA
involved in endosomal transport	IMP IMP: Inferred from mutant phenotype	21300787	GOA
acts upstream of or within endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	22411990	GOA
involved in intracellular protein transport	IMP IMP: Inferred from mutant phenotype	20733053	GOA
involved in regulation of synapse maturation	IDA IDA: Inferred from direct assay	33330482	GOA
involved in regulation of synapse maturation	IMP IMP: Inferred from mutant phenotype	33330482	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of WASH complex	IDA IDA: Inferred from direct assay	21602791	GOA
located in early endosome	IDA IDA: Inferred from direct assay	20733053	GOA
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	33330482	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	33330482	GOA
located in immunological synapse	IDA IDA: Inferred from direct assay	17644068	GOA
part of retromer complex	IDA IDA: Inferred from direct assay	23563491	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

SNX27 Protein Structure

PDZ

0
100
200
300
400
500
541 a.a.

Protein Preferred Names	Protein Names
sorting nexin-27	methamphetamine-responsive transcript 1

SNX27 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SNX27	Q96L92	ACE2	Homo sapiens	Q9BYF1	Pull Down	34835087

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Menkes Disease	Copper Transport Disease Menkes Syndrome MNK Kinky Hair Disease Steely Hair Disease Menkes Kinky-Hair Syndrome Mk Steely Hair Syndrome Menkea Syndrome Md Menkes Kinky Hair Syndrome Hypocupremia, Congenital Kinky Hair Syndrome X-Linked Copper Deficiency Menkes Kinky Hair Disease
Chromosomal Duplication Syndrome
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
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

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS13537	SNX27 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SNX27	VGNC	VGNC:35105
Felis catus	SNX27	VGNC	VGNC:107624
Rattus norvegicus	SNX27	RGD	RGD:628705
Macaca mulatta	SNX27	VGNC	VGNC:77742
Mus musculus	SNX27	MGD	MGI:1923992
Canis familiaris	SNX27	VGNC	VGNC:46634
Others	SNX27	NCBI