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Protein

Sorting nexin-14

Gene

SNX14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

  • autophagosome maturation Source: UniProtKB
  • protein transport Source: UniProtKB-KW

Keywordsi

Biological processProtein transport, Transport

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

EuPathDBiHostDB:ENSG00000135317.12
HGNCiHGNC:14977 SNX14
MIMi616105 gene
neXtProtiNX_Q9Y5W7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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
ProteomicsDBi86518
86519 [Q9Y5W7-2]
86520 [Q9Y5W7-3]
86521 [Q9Y5W7-4]

PTM databases

iPTMnetiQ9Y5W7
PhosphoSitePlusiQ9Y5W7

Expressioni

Tissue specificityi

Widely expressed both in fetal and adult tissues.1 Publication

Gene expression databases

BgeeiENSG00000135317 Expressed in 195 organ(s), highest expression level in intestine
CleanExiHS_SNX14
ExpressionAtlasiQ9Y5W7 baseline and differential
GenevisibleiQ9Y5W7 HS

Organism-specific databases

HPAiHPA017639

Interactioni

Protein-protein interaction databases

BioGridi121463, 23 interactors
IntActiQ9Y5W7, 4 interactors
MINTiQ9Y5W7
STRINGi9606.ENSP00000313121

Structurei

Secondary structure

1946
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IMHX Eukaryota
ENOG410XS0F LUCA
GeneTreeiENSGT00800000124081
HOVERGENiHBG056713
InParanoidiQ9Y5W7
KOiK17926
OMAiVFCENTE
OrthoDBiEOG091G0NXS
PhylomeDBiQ9Y5W7
TreeFamiTF324055

Family and domain databases

CDDicd06877 PX_SNX14, 1 hit
cd08722 RGS_SNX14, 1 hit
Gene3Di3.30.1520.10, 1 hit
InterProiView protein in InterPro
IPR001683 Phox
IPR003114 Phox_assoc
IPR036871 PX_dom_sf
IPR016137 RGS
IPR036305 RGS_sf
IPR037436 SNX14_PX
IPR037892 SNX14_RGS
IPR013937 Sorting_nexin_C
PfamiView protein in Pfam
PF08628 Nexin_C, 1 hit
PF00787 PX, 1 hit
PF02194 PXA, 1 hit
PF00615 RGS, 1 hit
SMARTiView protein in SMART
SM00312 PX, 1 hit
SM00313 PXA, 1 hit
SM00315 RGS, 1 hit
SUPFAMiSSF48097 SSF48097, 1 hit
SSF64268 SSF64268, 1 hit
PROSITEiView protein in PROSITE
PS50195 PX, 1 hit
PS51207 PXA, 1 hit
PS50132 RGS, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

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

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RJG9D6RJG9_HUMAN
Sorting nexin-14
SNX14
833Annotation score:
D6RDH9D6RDH9_HUMAN
Sorting nexin-14
SNX14
665Annotation score:
D6RDA6D6RDA6_HUMAN
Sorting nexin-14
SNX14
236Annotation score:
E2QRM8E2QRM8_HUMAN
Sorting nexin-14
SNX14
183Annotation score:
Q5JRQ0Q5JRQ0_HUMAN
Sorting nexin-14
SNX14
212Annotation score:
H0Y926H0Y926_HUMAN
Sorting nexin-14
SNX14
178Annotation score:
D6RBA7D6RBA7_HUMAN
Sorting nexin-14
SNX14
145Annotation score:
D6REK1D6REK1_HUMAN
Sorting nexin-14
SNX14
91Annotation score:

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 Genomic DNA No translation available.
AL589666 Genomic DNA No translation available.
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

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK295417 mRNA Translation: BAG58367.1
AL136082 Genomic DNA No translation available.
AL589666 Genomic DNA No translation available.
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, 23 interactors
IntActiQ9Y5W7, 4 interactors
MINTiQ9Y5W7
STRINGi9606.ENSP00000313121

PTM databases

iPTMnetiQ9Y5W7
PhosphoSitePlusiQ9Y5W7

Polymorphism and mutation databases

BioMutaiSNX14
DMDMi254763401

Proteomic databases

EPDiQ9Y5W7
PaxDbiQ9Y5W7
PeptideAtlasiQ9Y5W7
PRIDEiQ9Y5W7
ProteomicsDBi86518
86519 [Q9Y5W7-2]
86520 [Q9Y5W7-3]
86521 [Q9Y5W7-4]

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
EuPathDBiHostDB:ENSG00000135317.12
GeneCardsiSNX14
H-InvDBiHIX0184304
HGNCiHGNC:14977 SNX14
HPAiHPA017639
MalaCardsiSNX14
MIMi616105 gene
616354 phenotype
neXtProtiNX_Q9Y5W7
OpenTargetsiENSG00000135317
PharmGKBiPA129840867
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IMHX Eukaryota
ENOG410XS0F LUCA
GeneTreeiENSGT00800000124081
HOVERGENiHBG056713
InParanoidiQ9Y5W7
KOiK17926
OMAiVFCENTE
OrthoDBiEOG091G0NXS
PhylomeDBiQ9Y5W7
TreeFamiTF324055

Miscellaneous databases

ChiTaRSiSNX14 human
GenomeRNAii57231
PROiPR:Q9Y5W7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135317 Expressed in 195 organ(s), highest expression level in intestine
CleanExiHS_SNX14
ExpressionAtlasiQ9Y5W7 baseline and differential
GenevisibleiQ9Y5W7 HS

Family and domain databases

CDDicd06877 PX_SNX14, 1 hit
cd08722 RGS_SNX14, 1 hit
Gene3Di3.30.1520.10, 1 hit
InterProiView protein in InterPro
IPR001683 Phox
IPR003114 Phox_assoc
IPR036871 PX_dom_sf
IPR016137 RGS
IPR036305 RGS_sf
IPR037436 SNX14_PX
IPR037892 SNX14_RGS
IPR013937 Sorting_nexin_C
PfamiView protein in Pfam
PF08628 Nexin_C, 1 hit
PF00787 PX, 1 hit
PF02194 PXA, 1 hit
PF00615 RGS, 1 hit
SMARTiView protein in SMART
SM00312 PX, 1 hit
SM00313 PXA, 1 hit
SM00315 RGS, 1 hit
SUPFAMiSSF48097 SSF48097, 1 hit
SSF64268 SSF64268, 1 hit
PROSITEiView protein in PROSITE
PS50195 PX, 1 hit
PS51207 PXA, 1 hit
PS50132 RGS, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSNX14_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5W7
Secondary accession number(s): B4DI55
, Q4VBR3, Q5TCF9, Q5TCG0, Q6NUI7, Q6PI37, Q9BSD1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 28, 2009
Last modified: September 12, 2018
This is version 150 of the entry and version 3 of the sequence. See 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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