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SNX14 sorting nexin 14 [ Homo sapiens (human) ]

Gene ID: 57231, updated on 13-May-2016
Official Symbol
SNX14provided by HGNC
Official Full Name
sorting nexin 14provided by HGNC
Primary source
HGNC:HGNC:14977
See related
Ensembl:ENSG00000135317 HPRD:11590; MIM:616105; Vega:OTTHUMG00000015140
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
SCAR20; RGS-PX2
Summary
This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Orthologs
Location:
6q14.3
Exon count:
31
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (85505496..85594156, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (86215214..86303850, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene tumor protein, translationally-controlled 1 pseudogene 6 Neighboring gene 5'-nucleotidase ecto Neighboring gene synaptotagmin binding cytoplasmic RNA interacting protein Neighboring gene pyruvate kinase, muscle pseudogene 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC13217

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 

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.

Genomic

  1. NG_047171.1 RefSeqGene

    Range
    5001..93661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001297614.2NP_001284543.1  sorting nexin-14 isoform c

    See identical proteins and their annotated locations for NP_001284543.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame segment of the coding region compared to variant 1. It encodes a shorter isoform (c), compared to isoform a.
    Source sequence(s)
    BC005110, BC046520, CB054302, DA491624, DC310382
    Consensus CDS
    CCDS75490.1
    UniProtKB/Swiss-Prot
    Q9Y5W7
    Related
    ENSP00000358641, OTTHUMP00000220930, ENST00000369627, OTTHUMT00000366597
    Conserved Domains (4) summary
    cd06877
    Location:555677
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    cd08722
    Location:340466
    RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
    pfam02194
    Location:130303
    PXA; PXA domain
    pfam08628
    Location:798903
    Nexin_C; Sorting nexin C terminal
  2. NM_001304479.1NP_001291408.1  sorting nexin-14 isoform d

    See identical proteins and their annotated locations for NP_001291408.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AK295417, CB054302, DA491624, DC310382
    Consensus CDS
    CCDS78163.1
    UniProtKB/Swiss-Prot
    Q9Y5W7
    Related
    ENSP00000427380, OTTHUMP00000220931, ENST00000505648, OTTHUMT00000366598
    Conserved Domains (4) summary
    cd06877
    Location:512634
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    cd08722
    Location:288414
    RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
    pfam02194
    Location:78251
    PXA; PXA domain
    pfam08628
    Location:755860
    Nexin_C; Sorting nexin C terminal
  3. NM_020468.5NP_065201.1  sorting nexin-14 isoform b

    See identical proteins and their annotated locations for NP_065201.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks in-frame segments of the coding region compared to variant 1. It encodes a shorter isoform (b), compared to isoform a.
    Source sequence(s)
    BC005110, CB054302, DA491624, DC310382
    Consensus CDS
    CCDS5003.1
    UniProtKB/Swiss-Prot
    Q9Y5W7
    Related
    ENSP00000257769, OTTHUMP00000016812, ENST00000346348, OTTHUMT00000041392
    Conserved Domains (4) summary
    cd06877
    Location:511633
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    cd08722
    Location:296422
    RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
    pfam02194
    Location:137259
    PXA; PXA domain
    pfam08628
    Location:754859
    Nexin_C; Sorting nexin C terminal
  4. NM_153816.5NP_722523.1  sorting nexin-14 isoform a

    See identical proteins and their annotated locations for NP_722523.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (a).
    Source sequence(s)
    BC005110, BC095419, CB054302, DA491624, DC310382
    Consensus CDS
    CCDS5004.1
    UniProtKB/Swiss-Prot
    Q9Y5W7
    Related
    ENSP00000313121, OTTHUMP00000016813, ENST00000314673, OTTHUMT00000041393
    Conserved Domains (4) summary
    cd06877
    Location:564686
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    cd08722
    Location:340466
    RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
    pfam02194
    Location:130303
    PXA; PXA domain
    pfam08628
    Location:807912
    Nexin_C; Sorting nexin C terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    85505496..85594156 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248738.3XP_005248795.1  

    See identical proteins and their annotated locations for XP_005248795.1

    Conserved Domains (4) summary
    cd06877
    Location:563685
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    cd08722
    Location:339465
    RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
    pfam02194
    Location:129302
    PXA; PXA domain
    pfam08628
    Location:806911
    Nexin_C; Sorting nexin C terminal
  2. XM_005248740.3XP_005248797.1  

    See identical proteins and their annotated locations for XP_005248797.1

    Conserved Domains (4) summary
    cd06877
    Location:520642
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    cd08722
    Location:296422
    RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
    pfam02194
    Location:137259
    PXA; PXA domain
    pfam08628
    Location:763868
    Nexin_C; Sorting nexin C terminal
  3. XM_011535979.1XP_011534281.1  

    Conserved Domains (4) summary
    cd06877
    Location:468590
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    cd08722
    Location:244370
    RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
    pfam02194
    Location:85207
    PXA; PXA domain
    pfam08628
    Location:711816
    Nexin_C; Sorting nexin C terminal
  4. XM_011535980.1XP_011534282.1  

    Conserved Domains (3) summary
    cd06877
    Location:179301
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    pfam08628
    Location:422527
    Nexin_C; Sorting nexin C terminal
    cl02565
    Location:181
    RGS; Regulator of G protein signaling (RGS) domain superfamily
  5. XM_011535978.1XP_011534280.1  

    Related
    ENSP00000425630, OTTHUMP00000220932, ENST00000515216, OTTHUMT00000366600
    Conserved Domains (4) summary
    cd06877
    Location:491613
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    cd08722
    Location:267393
    RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
    pfam02194
    Location:57230
    PXA; PXA domain
    pfam08628
    Location:734839
    Nexin_C; Sorting nexin C terminal
  6. XM_011535977.1XP_011534279.1  

    Conserved Domains (4) summary
    cd06877
    Location:512634
    PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
    cd08722
    Location:288414
    RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
    pfam02194
    Location:78251
    PXA; PXA domain
    pfam08628
    Location:755832
    Nexin_C; Sorting nexin C terminal

RNA

  1. XR_942523.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    86313156..86401767 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)