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SNX27 sorting nexin 27 [ Homo sapiens (human) ]

Gene ID: 81609, updated on 11-Apr-2024

Summary

Official Symbol
SNX27provided by HGNC
Official Full Name
sorting nexin 27provided by HGNC
Primary source
HGNC:HGNC:20073
See related
Ensembl:ENSG00000143376 MIM:611541; AllianceGenome:HGNC:20073
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
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Genomic context

Location:
1q21.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151612050..151699080)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150734456..150822464)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151584526..151671556)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151519404-151519922 Neighboring gene tuftelin 1 Neighboring gene microRNA 554 Neighboring gene Sharpr-MPRA regulatory region 12940 Neighboring gene ribosomal protein S10 pseudogene 6 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:151546941-151548140 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151566738-151567238 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151567239-151567739 Neighboring gene CRISPRi-validated cis-regulatory element chr1.8572 Neighboring gene uncharacterized LOC124904420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151591098-151591598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151591599-151592099 Neighboring gene RNA, U6 small nuclear 1062, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151678174-151678674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151678675-151679175 Neighboring gene Sharpr-MPRA regulatory region 11691 Neighboring gene CUGBP Elav-like family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1325 Neighboring gene regulatory subunit of type II PKA R-subunit 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0488, MGC20471, MGC126871, MGC126873

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in endocytic recycling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endosome to lysosome transport IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of natural killer cell polarity TAS
Traceable Author Statement
more info
PubMed 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
part_of WASH complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in endosome IC
Inferred by Curator
more info
PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in immunological synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
part_of retromer complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001330723.2NP_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
    Q32Q36, Q4AEJ5, Q5VWB0, Q5VWB1, Q5VWB2, Q6IPP6, Q86UB1, Q96D79, Q96L92, Q9H3K8
    Related
    ENSP00000400333.2, ENST00000458013.7
    Conserved Domains (4) summary
    cd06886
    Location:160265
    PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 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
    cd01777
    Location:273365
    FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)
  2. NM_030918.6NP_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, AL391335, BC100998, CB853160
    Consensus CDS
    CCDS1001.1
    UniProtKB/Swiss-Prot
    Q96L92
    Related
    ENSP00000357836.3, ENST00000368843.8
    Conserved Domains (4) summary
    cd06886
    Location:160265
    PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 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
    cd01777
    Location:273365
    FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    151612050..151699080
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450038.2XP_024305806.1  sorting nexin-27 isoform X8

    UniProtKB/TrEMBL
    A0A5H1ZRP6
    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_047431290.1XP_047287246.1  sorting nexin-27 isoform X4

    Related
    ENSP00000357831.2, ENST00000368838.2
  3. XM_005245510.4XP_005245567.1  sorting nexin-27 isoform X2

    See identical proteins and their annotated locations for XP_005245567.1

    UniProtKB/TrEMBL
    A0A5H1ZRP6
    Conserved Domains (4) summary
    cd06886
    Location:57162
    PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27
    cd13338
    Location:322423
    FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
    cd01777
    Location:170262
    FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)
    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. ...
  4. XM_047431289.1XP_047287245.1  sorting nexin-27 isoform X3

  5. XM_011510024.3XP_011508326.1  sorting nexin-27 isoform X1

    See identical proteins and their annotated locations for XP_011508326.1

    Conserved Domains (3) summary
    cd13338
    Location:324425
    FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
    cd01777
    Location:172264
    FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)
    cl02563
    Location:70164
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  6. XM_005245511.5XP_005245568.1  sorting nexin-27 isoform X7

    See identical proteins and their annotated locations for XP_005245568.1

    UniProtKB/TrEMBL
    A0A5H1ZRP6
    Conserved Domains (3) summary
    cd13338
    Location:239340
    FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
    cd01777
    Location:87179
    FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)
    cl02563
    Location:179
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
  7. XM_017002417.2XP_016857906.1  sorting nexin-27 isoform X6

    UniProtKB/TrEMBL
    A0A2R8Y8A7
    Related
    ENSP00000496645.1, ENST00000642376.1
  8. XM_011510025.3XP_011508327.1  sorting nexin-27 isoform X5

    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    150734456..150822464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338918.1XP_054194893.1  sorting nexin-27 isoform X6

    UniProtKB/TrEMBL
    A0A2R8Y8A7
  2. XM_054338917.1XP_054194892.1  sorting nexin-27 isoform X5

  3. XM_054338914.1XP_054194889.1  sorting nexin-27 isoform X2

  4. XM_054338919.1XP_054194894.1  sorting nexin-27 isoform X7

  5. XM_054338913.1XP_054194888.1  sorting nexin-27 isoform X1

  6. XM_054338915.1XP_054194890.1  sorting nexin-27 isoform X3

  7. XM_054338916.1XP_054194891.1  sorting nexin-27 isoform X4

  8. XM_054338920.1XP_054194895.1  sorting nexin-27 isoform X8