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Protein

Sorting nexin-14

Gene

SNX14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes (PubMed:25848753). Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:25848753, PubMed:25148684).By similarity1 Publication2 Publications

GO - Molecular functioni

  • phosphatidylinositol-3,5-bisphosphate binding Source: UniProtKB
  • phosphatidylinositol binding Source: InterPro

GO - Biological processi

  • autophagosome maturation Source: UniProtKB
  • protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135317-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Sorting nexin-14
Gene namesi
Name:SNX14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:14977. SNX14.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei24 – 44HelicalSequence analysisAdd BLAST21
Transmembranei49 – 69HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • dendrite Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • late endosome Source: UniProtKB
  • late endosome membrane Source: UniProtKB-SubCell
  • lysosomal membrane Source: UniProtKB-SubCell
  • lysosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Endosome, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 20 (SCAR20)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability.
See also OMIM:616354

Keywords - Diseasei

Mental retardation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNETi57231.
MalaCardsiSNX14.
MIMi616354. phenotype.
OpenTargetsiENSG00000135317.
PharmGKBiPA129840867.

Polymorphism and mutation databases

BioMutaiSNX14.
DMDMi254763401.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002138611 – 946Sorting nexin-14Add BLAST946

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei548PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y5W7.
PaxDbiQ9Y5W7.
PeptideAtlasiQ9Y5W7.
PRIDEiQ9Y5W7.

PTM databases

iPTMnetiQ9Y5W7.
PhosphoSitePlusiQ9Y5W7.

Expressioni

Tissue specificityi

Widely expressed both in fetal and adult tissues.1 Publication

Gene expression databases

BgeeiENSG00000135317.
CleanExiHS_SNX14.
ExpressionAtlasiQ9Y5W7. baseline and differential.
GenevisibleiQ9Y5W7. HS.

Organism-specific databases

HPAiHPA017639.

Interactioni

Protein-protein interaction databases

BioGridi121463. 21 interactors.
IntActiQ9Y5W7. 4 interactors.
STRINGi9606.ENSP00000313121.

Structurei

Secondary structure

1946
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi562 – 564Combined sources3
Beta strandi565 – 575Combined sources11
Beta strandi589 – 598Combined sources10
Beta strandi609 – 615Combined sources7
Helixi617 – 631Combined sources15
Beta strandi635 – 637Combined sources3
Helixi650 – 668Combined sources19
Helixi671 – 673Combined sources3
Helixi677 – 682Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BGJX-ray2.55A558-702[»]
4PQOX-ray2.55A561-686[»]
4PQPX-ray3.00A/B/C/D561-686[»]
ProteinModelPortaliQ9Y5W7.
SMRiQ9Y5W7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini130 – 304PXAPROSITE-ProRule annotationAdd BLAST175
Domaini336 – 468RGSPROSITE-ProRule annotationAdd BLAST133
Domaini570 – 690PXPROSITE-ProRule annotationAdd BLAST121

Sequence similaritiesi

Belongs to the sorting nexin family.Curated
Contains 1 PX (phox homology) domain.PROSITE-ProRule annotation
Contains 1 PXA domain.PROSITE-ProRule annotation
Contains 1 RGS domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IMHX. Eukaryota.
ENOG410XS0F. LUCA.
GeneTreeiENSGT00800000124081.
HOVERGENiHBG056713.
InParanoidiQ9Y5W7.
KOiK17926.
OMAiQNYFMEM.
OrthoDBiEOG091G0NXS.
PhylomeDBiQ9Y5W7.
TreeFamiTF324055.

Family and domain databases

Gene3Di3.30.1520.10. 1 hit.
InterProiIPR001683. Phox.
IPR003114. Phox_assoc.
IPR016137. RGS.
IPR013937. Sorting_nexin_C.
[Graphical view]
PfamiPF08628. Nexin_C. 1 hit.
PF00787. PX. 1 hit.
PF02194. PXA. 1 hit.
PF00615. RGS. 1 hit.
[Graphical view]
SMARTiSM00312. PX. 1 hit.
SM00313. PXA. 1 hit.
SM00315. RGS. 1 hit.
[Graphical view]
SUPFAMiSSF48097. SSF48097. 1 hit.
SSF64268. SSF64268. 1 hit.
PROSITEiPS50195. PX. 1 hit.
PS51207. PXA. 1 hit.
PS50132. RGS. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y5W7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVPWVRTMGQ KLKQRLRLDV GREICRQYPL FCFLLLCLSA ASLLLNRYIH
60 70 80 90 100
ILMIFWSFVA GVVTFYCSLG PDSLLPNIFF TIKYKPKQLG LQELFPQGHS
110 120 130 140 150
CAVCGKVKCK RHRPSLLLEN YQPWLDLKIS SKVDASLSEV LELVLENFVY
160 170 180 190 200
PWYRDVTDDE SFVDELRITL RFFASVLIRR IHKVDIPSII TKKLLKAAMK
210 220 230 240 250
HIEVIVKARQ KVKNTEFLQQ AALEEYGPEL HVALRSRRDE LHYLRKLTEL
260 270 280 290 300
LFPYILPPKA TDCRSLTLLI REILSGSVFL PSLDFLADPD TVNHLLIIFI
310 320 330 340 350
DDSPPEKATE PASPLVPFLQ KFAEPRNKKP SVLKLELKQI REQQDLLFRF
360 370 380 390 400
MNFLKQEGAV HVLQFCLTVE EFNDRILRPE LSNDEMLSLH EELQKIYKTY
410 420 430 440 450
CLDESIDKIR FDPFIVEEIQ RIAEGPYIDV VKLQTMRCLF EAYEHVLSLL
460 470 480 490 500
ENVFTPMFCH SDEYFRQLLR GAESPTRNSK LNRGSLSLDD FRNTQKRGES
510 520 530 540 550
FGISRIGSKI KGVFKSTTME GAMLPNYGVA EGEDDFIEEG IVVMEDDSPV
560 570 580 590 600
EAVSTPNTPR NLAAWKISIP YVDFFEDPSS ERKEKKERIP VFCIDVERND
610 620 630 640 650
RRAVGHEPEH WSVYRRYLEF YVLESKLTEF HGAFPDAQLP SKRIIGPKNY
660 670 680 690 700
EFLKSKREEF QEYLQKLLQH PELSNSQLLA DFLSPNGGET QFLDKILPDV
710 720 730 740 750
NLGKIIKSVP GKLMKEKGQH LEPFIMNFIN SCESPKPKPS RPELTILSPT
760 770 780 790 800
SENNKKLFND LFKNNANRAE NTERKQNQNY FMEVMTVEGV YDYLMYVGRV
810 820 830 840 850
VFQVPDWLHH LLMGTRILFK NTLEMYTDYY LQCKLEQLFQ EHRLVSLITL
860 870 880 890 900
LRDAIFCENT EPRSLQDKQK GAKQTFEEMM NYIPDLLVKC IGEETKYESI
910 920 930 940
RLLFDGLQQP VLNKQLTYVL LDIVIQELFP ELNKVQKEVT SVTSWM
Length:946
Mass (Da):110,182
Last modified:July 28, 2009 - v3
Checksum:iCDC5D0A918BC16B9
GO
Isoform 2 (identifier: Q9Y5W7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-183: Missing.
     483-491: Missing.

Show »
Length:893
Mass (Da):103,794
Checksum:iD2EA0049D96B4C7D
GO
Isoform 3 (identifier: Q9Y5W7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.

Show »
Length:894
Mass (Da):104,009
Checksum:i13F68762599F996F
GO
Isoform 4 (identifier: Q9Y5W7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     483-491: Missing.

Show »
Length:937
Mass (Da):109,191
Checksum:iC0AFEC1BA18FF158
GO

Sequence cautioni

The sequence CAI20444 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI20445 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti60A → V in AAH68589 (PubMed:15489334).Curated1
Sequence conflicti317P → R in AAH68589 (PubMed:15489334).Curated1
Sequence conflicti322F → I in AAH46520 (PubMed:15489334).Curated1
Sequence conflicti346L → P in AAH46520 (PubMed:15489334).Curated1
Sequence conflicti696I → L in AAH95419 (PubMed:15489334).Curated1
Sequence conflicti882Y → C in AAH46520 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0377751 – 52Missing in isoform 3. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_037776140 – 183Missing in isoform 2. 2 PublicationsAdd BLAST44
Alternative sequenceiVSP_037777483 – 491Missing in isoform 2 and isoform 4. 2 Publications9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK295417 mRNA. Translation: BAG58367.1.
AL136082, AL589666 Genomic DNA. Translation: CAI20444.1. Sequence problems.
AL136082, AL589666 Genomic DNA. Translation: CAI20445.1. Sequence problems.
AL589666, AL136082 Genomic DNA. Translation: CAI40162.1.
AL589666, AL136082 Genomic DNA. Translation: CAI40163.1.
CH471051 Genomic DNA. Translation: EAW48631.1.
BC005110 mRNA. Translation: AAH05110.2.
BC046520 mRNA. Translation: AAH46520.1.
BC068589 mRNA. Translation: AAH68589.1.
BC095419 mRNA. Translation: AAH95419.1.
AY044865 mRNA. Translation: AAK97796.1.
AF121863 mRNA. Translation: AAD27836.1.
CCDSiCCDS5003.1. [Q9Y5W7-2]
CCDS5004.1. [Q9Y5W7-1]
CCDS75490.1. [Q9Y5W7-4]
CCDS78163.1. [Q9Y5W7-3]
RefSeqiNP_001284543.1. NM_001297614.2. [Q9Y5W7-4]
NP_001291408.1. NM_001304479.1. [Q9Y5W7-3]
NP_065201.1. NM_020468.5. [Q9Y5W7-2]
NP_722523.1. NM_153816.5. [Q9Y5W7-1]
UniGeneiHs.485871.

Genome annotation databases

EnsembliENST00000314673; ENSP00000313121; ENSG00000135317. [Q9Y5W7-1]
ENST00000346348; ENSP00000257769; ENSG00000135317. [Q9Y5W7-2]
ENST00000369627; ENSP00000358641; ENSG00000135317. [Q9Y5W7-4]
ENST00000505648; ENSP00000427380; ENSG00000135317. [Q9Y5W7-3]
GeneIDi57231.
KEGGihsa:57231.
UCSCiuc003pkr.4. human. [Q9Y5W7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK295417 mRNA. Translation: BAG58367.1.
AL136082, AL589666 Genomic DNA. Translation: CAI20444.1. Sequence problems.
AL136082, AL589666 Genomic DNA. Translation: CAI20445.1. Sequence problems.
AL589666, AL136082 Genomic DNA. Translation: CAI40162.1.
AL589666, AL136082 Genomic DNA. Translation: CAI40163.1.
CH471051 Genomic DNA. Translation: EAW48631.1.
BC005110 mRNA. Translation: AAH05110.2.
BC046520 mRNA. Translation: AAH46520.1.
BC068589 mRNA. Translation: AAH68589.1.
BC095419 mRNA. Translation: AAH95419.1.
AY044865 mRNA. Translation: AAK97796.1.
AF121863 mRNA. Translation: AAD27836.1.
CCDSiCCDS5003.1. [Q9Y5W7-2]
CCDS5004.1. [Q9Y5W7-1]
CCDS75490.1. [Q9Y5W7-4]
CCDS78163.1. [Q9Y5W7-3]
RefSeqiNP_001284543.1. NM_001297614.2. [Q9Y5W7-4]
NP_001291408.1. NM_001304479.1. [Q9Y5W7-3]
NP_065201.1. NM_020468.5. [Q9Y5W7-2]
NP_722523.1. NM_153816.5. [Q9Y5W7-1]
UniGeneiHs.485871.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BGJX-ray2.55A558-702[»]
4PQOX-ray2.55A561-686[»]
4PQPX-ray3.00A/B/C/D561-686[»]
ProteinModelPortaliQ9Y5W7.
SMRiQ9Y5W7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121463. 21 interactors.
IntActiQ9Y5W7. 4 interactors.
STRINGi9606.ENSP00000313121.

PTM databases

iPTMnetiQ9Y5W7.
PhosphoSitePlusiQ9Y5W7.

Polymorphism and mutation databases

BioMutaiSNX14.
DMDMi254763401.

Proteomic databases

EPDiQ9Y5W7.
PaxDbiQ9Y5W7.
PeptideAtlasiQ9Y5W7.
PRIDEiQ9Y5W7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314673; ENSP00000313121; ENSG00000135317. [Q9Y5W7-1]
ENST00000346348; ENSP00000257769; ENSG00000135317. [Q9Y5W7-2]
ENST00000369627; ENSP00000358641; ENSG00000135317. [Q9Y5W7-4]
ENST00000505648; ENSP00000427380; ENSG00000135317. [Q9Y5W7-3]
GeneIDi57231.
KEGGihsa:57231.
UCSCiuc003pkr.4. human. [Q9Y5W7-1]

Organism-specific databases

CTDi57231.
DisGeNETi57231.
GeneCardsiSNX14.
H-InvDBHIX0184304.
HGNCiHGNC:14977. SNX14.
HPAiHPA017639.
MalaCardsiSNX14.
MIMi616105. gene.
616354. phenotype.
neXtProtiNX_Q9Y5W7.
OpenTargetsiENSG00000135317.
PharmGKBiPA129840867.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IMHX. Eukaryota.
ENOG410XS0F. LUCA.
GeneTreeiENSGT00800000124081.
HOVERGENiHBG056713.
InParanoidiQ9Y5W7.
KOiK17926.
OMAiQNYFMEM.
OrthoDBiEOG091G0NXS.
PhylomeDBiQ9Y5W7.
TreeFamiTF324055.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000135317-MONOMER.

Miscellaneous databases

ChiTaRSiSNX14. human.
GenomeRNAii57231.
PROiQ9Y5W7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135317.
CleanExiHS_SNX14.
ExpressionAtlasiQ9Y5W7. baseline and differential.
GenevisibleiQ9Y5W7. HS.

Family and domain databases

Gene3Di3.30.1520.10. 1 hit.
InterProiIPR001683. Phox.
IPR003114. Phox_assoc.
IPR016137. RGS.
IPR013937. Sorting_nexin_C.
[Graphical view]
PfamiPF08628. Nexin_C. 1 hit.
PF00787. PX. 1 hit.
PF02194. PXA. 1 hit.
PF00615. RGS. 1 hit.
[Graphical view]
SMARTiSM00312. PX. 1 hit.
SM00313. PXA. 1 hit.
SM00315. RGS. 1 hit.
[Graphical view]
SUPFAMiSSF48097. SSF48097. 1 hit.
SSF64268. SSF64268. 1 hit.
PROSITEiPS50195. PX. 1 hit.
PS51207. PXA. 1 hit.
PS50132. RGS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSNX14_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5W7
Secondary accession number(s): B4DI55
, Q4VBR3, Q5TCF9, Q5TCG0, Q6NUI7, Q6PI37, Q9BSD1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 28, 2009
Last modified: November 30, 2016
This is version 140 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.