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SNX27 sorting nexin family member 27 [ Homo sapiens (human) ]

Gene ID: 81609, updated on 14-Aug-2018

Summary

Official Symbol
SNX27provided by HGNC
Official Full Name
sorting nexin family member 27provided by HGNC
Primary source
HGNC:HGNC:20073
See related
Ensembl:ENSG00000143376 MIM:611541; Vega:OTTHUMG00000013052
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRT1; MY014
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]
Expression
Ubiquitous expression in brain (RPKM 9.5), kidney (RPKM 6.7) and 25 other tissues See more
Orthologs

Genomic context

See SNX27 in Genome Data Viewer
Location:
1q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (151612027..151699083)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151584454..151671559)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tuftelin 1 Neighboring gene microRNA 554 Neighboring gene ribosomal protein S10 pseudogene 6 Neighboring gene RNA, U6 small nuclear 1062, pseudogene Neighboring gene CUGBP Elav-like family member 3 Neighboring gene regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1 Neighboring gene RNA, U6 small nuclear 662, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0488, MGC20471, MGC126871, MGC126873

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
endosome to lysosome transport IEA
Inferred from Electronic Annotation
more info
 
establishment of natural killer cell polarity TAS
Traceable Author Statement
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
retrograde transport, endosome to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde transport, endosome to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with WASH complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endosome IC
Inferred by Curator
more info
PubMed 
immunological synapse IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
colocalizes_with retromer complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001330723.1NP_001317652.1  sorting nexin-27 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL391335, AL589765
    Consensus CDS
    CCDS81377.1
    UniProtKB/Swiss-Prot
    Q96L92
    Related
    ENSP00000400333.2, ENST00000458013.6
    Conserved Domains (4) summary
    cd06886
    Location:160265
    PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27
    cd01777
    Location:274360
    SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
    cd00992
    Location:41133
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd13338
    Location:425526
    FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
  2. NM_030918.5NP_112180.4  sorting nexin-27 isoform 2

    See identical proteins and their annotated locations for NP_112180.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AB007957, BC100998, CB853160
    Consensus CDS
    CCDS1001.1
    UniProtKB/Swiss-Prot
    Q96L92
    Related
    ENSP00000357836.3, OTTHUMP00000042487, ENST00000368843.8, OTTHUMT00000104568
    Conserved Domains (4) summary
    cd06886
    Location:160265
    PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27
    cd01777
    Location:274360
    SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
    cd00992
    Location:41133
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd13338
    Location:425526
    FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    151612027..151699083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245511.4XP_005245568.1  sorting nexin-27 isoform X6

    See identical proteins and their annotated locations for XP_005245568.1

    Conserved Domains (3) summary
    cd01777
    Location:88174
    SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
    cd13338
    Location:239340
    FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
    cl02563
    Location:179
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  2. XM_011510024.2XP_011508326.1  sorting nexin-27 isoform X1

    See identical proteins and their annotated locations for XP_011508326.1

    Conserved Domains (3) summary
    cd01777
    Location:173259
    SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
    cd13338
    Location:324425
    FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
    cl02563
    Location:70164
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  3. XM_011510026.2XP_011508328.1  sorting nexin-27 isoform X4

    Conserved Domains (3) summary
    cd06886
    Location:160265
    PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27
    cd01777
    Location:274360
    SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
    cd00992
    Location:41133
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  4. XM_024450038.1XP_024305806.1  sorting nexin-27 isoform X7

  5. XM_017002417.1XP_016857906.1  sorting nexin-27 isoform X5

    Related
    ENSP00000496645.1, ENST00000642376.1
  6. XM_011510025.2XP_011508327.1  sorting nexin-27 isoform X3

    Conserved Domains (3) summary
    cd01777
    Location:153239
    SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
    cd13338
    Location:304405
    FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
    cl02563
    Location:61144
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  7. XM_024450039.1XP_024305807.1  sorting nexin-27 isoform X6

    Conserved Domains (3) summary
    cd01777
    Location:88174
    SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
    cd13338
    Location:239340
    FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
    cl02563
    Location:179
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  8. XM_005245510.3XP_005245567.1  sorting nexin-27 isoform X2

    See identical proteins and their annotated locations for XP_005245567.1

    Related
    ENSP00000357831.2, OTTHUMP00000015250, ENST00000368838.2, OTTHUMT00000036623
    Conserved Domains (4) summary
    cd06886
    Location:57162
    PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27
    cd01777
    Location:171257
    SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
    cd13338
    Location:322423
    FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
    cl00117
    Location:230
    PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
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