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Protein

Transmembrane protein 117

Gene

TMEM117

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

Functioni

Involved in endoplasmic reticulum (ER) stress-induced cell death pathway.1 Publication

GO - Biological processi

  • intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 117
Gene namesi
Name:TMEM117
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139173.9
HGNCiHGNC:25308 TMEM117
neXtProtiNX_Q9H0C3

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
Topological domaini1 – 15Cytoplasmic1 PublicationAdd BLAST15
Transmembranei16 – 36HelicalSequence analysisAdd BLAST21
Topological domaini37 – 65Extracellular1 PublicationAdd BLAST29
Transmembranei66 – 86HelicalSequence analysisAdd BLAST21
Topological domaini87 – 110Cytoplasmic1 PublicationAdd BLAST24
Transmembranei111 – 131HelicalSequence analysisAdd BLAST21
Topological domaini132 – 154Extracellular1 PublicationAdd BLAST23
Transmembranei155 – 175HelicalSequence analysisAdd BLAST21
Topological domaini176 – 198Cytoplasmic1 PublicationAdd BLAST23
Transmembranei199 – 219HelicalSequence analysisAdd BLAST21
Topological domaini220 – 239Extracellular1 PublicationAdd BLAST20
Transmembranei240 – 260HelicalSequence analysisAdd BLAST21
Topological domaini261 – 295Cytoplasmic1 PublicationAdd BLAST35
Transmembranei296 – 316HelicalSequence analysisAdd BLAST21
Topological domaini317 – 394Extracellular1 PublicationAdd BLAST78
Transmembranei395 – 415HelicalSequence analysisAdd BLAST21
Topological domaini416 – 514Cytoplasmic1 PublicationAdd BLAST99

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi353N → A: Reduced N-glycosylation. Loss of N-glycosylation; when associated with A-371. 1 Publication1
Mutagenesisi371N → A: Reduced N-glycosylation. Loss of N-glycosylation; when associated with A-353. 1 Publication1

Organism-specific databases

DisGeNETi84216
OpenTargetsiENSG00000139173
PharmGKBiPA143485638

Polymorphism and mutation databases

DMDMi74733520

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002512041 – 514Transmembrane protein 117Add BLAST514

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi353N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi371N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei453PhosphothreonineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ9H0C3
PaxDbiQ9H0C3
PeptideAtlasiQ9H0C3
PRIDEiQ9H0C3
ProteomicsDBi80252

PTM databases

iPTMnetiQ9H0C3
PhosphoSitePlusiQ9H0C3

Expressioni

Gene expression databases

BgeeiENSG00000139173 Expressed in 181 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_TMEM117
ExpressionAtlasiQ9H0C3 baseline and differential
GenevisibleiQ9H0C3 HS

Organism-specific databases

HPAiHPA039899
HPA046223

Structurei

3D structure databases

ProteinModelPortaliQ9H0C3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM117 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFTG Eukaryota
ENOG410Z7KD LUCA
GeneTreeiENSGT00390000013052
HOGENOMiHOG000294202
HOVERGENiHBG066988
InParanoidiQ9H0C3
OMAiNRIVLFW
OrthoDBiEOG091G0786
PhylomeDBiQ9H0C3
TreeFamiTF336012

Family and domain databases

InterProiView protein in InterPro
IPR029370 TMEM117
PANTHERiPTHR31226 PTHR31226, 1 hit
PfamiView protein in Pfam
PF15113 TMEM117, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q9H0C3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGKDFRYYFQ HPWSRMIVAY LVIFFNFLIF AEDPVSHSQT EANVIVVGNC
60 70 80 90 100
FSFVTNKYPR GVGWRILKVL LWLLAILTGL IAGKFLFHQR LFGQLLRLKM
110 120 130 140 150
FREDHGSWMT MFFSTILFLF IFSHIYNTIL LMDGNMGAYI ITDYMGIRNE
160 170 180 190 200
SFMKLAAVGT WMGDFVTAWM VTDMMLQDKP YPDWGKSARA FWKKGNVRIT
210 220 230 240 250
LFWTVLFTLT SVVVLVITTD WISWDKLNRG FLPSDEVSRA FLASFILVFD
260 270 280 290 300
LLIVMQDWEF PHFMGDVDVN LPGLHTPHMQ FKIPFFQKIF KEEYRIHITG
310 320 330 340 350
KWFNYGIIFL VLILDLNMWK NQIFYKPHEY GQYIGPGQKI YTVKDSESLK
360 370 380 390 400
DLNRTKLSWE WRSNHTNPRT NKTYVEGDMF LHSRFIGASL DVKCLAFVPS
410 420 430 440 450
LIAFVWFGFF IWFFGRFLKN EPRMENQDKT YTRMKRKSPS EHSKDMGITR
460 470 480 490 500
ENTQASVEDP LNDPSLVCIR SDFNEIVYKS SHLTSENLSS QLNESTSATE
510
ADQDPTTSKS TPTN
Length:514
Mass (Da):60,185
Last modified:March 1, 2001 - v1
Checksum:i9DBBF7980AAC2246
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VS00F8VS00_HUMAN
Transmembrane protein 117
TMEM117
268Annotation score:
F8W1J2F8W1J2_HUMAN
Transmembrane protein 117
TMEM117
140Annotation score:
H0YI63H0YI63_HUMAN
Transmembrane protein 117
TMEM117
158Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02766090R → H. Corresponds to variant dbSNP:rs1948516Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136855 mRNA Translation: CAB66789.1
AK057287 mRNA Translation: BAB71411.1
BC060798 mRNA Translation: AAH60798.1
CCDSiCCDS8745.1
RefSeqiNP_001273142.1, NM_001286213.1
NP_115632.1, NM_032256.2
XP_011537133.1, XM_011538831.2
XP_011537134.1, XM_011538832.2
UniGeneiHs.444668

Genome annotation databases

EnsembliENST00000266534; ENSP00000266534; ENSG00000139173
GeneIDi84216
KEGGihsa:84216
UCSCiuc001rod.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136855 mRNA Translation: CAB66789.1
AK057287 mRNA Translation: BAB71411.1
BC060798 mRNA Translation: AAH60798.1
CCDSiCCDS8745.1
RefSeqiNP_001273142.1, NM_001286213.1
NP_115632.1, NM_032256.2
XP_011537133.1, XM_011538831.2
XP_011537134.1, XM_011538832.2
UniGeneiHs.444668

3D structure databases

ProteinModelPortaliQ9H0C3
ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiQ9H0C3
PhosphoSitePlusiQ9H0C3

Polymorphism and mutation databases

DMDMi74733520

Proteomic databases

MaxQBiQ9H0C3
PaxDbiQ9H0C3
PeptideAtlasiQ9H0C3
PRIDEiQ9H0C3
ProteomicsDBi80252

Protocols and materials databases

DNASUi84216
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266534; ENSP00000266534; ENSG00000139173
GeneIDi84216
KEGGihsa:84216
UCSCiuc001rod.5 human

Organism-specific databases

CTDi84216
DisGeNETi84216
EuPathDBiHostDB:ENSG00000139173.9
GeneCardsiTMEM117
HGNCiHGNC:25308 TMEM117
HPAiHPA039899
HPA046223
neXtProtiNX_Q9H0C3
OpenTargetsiENSG00000139173
PharmGKBiPA143485638
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFTG Eukaryota
ENOG410Z7KD LUCA
GeneTreeiENSGT00390000013052
HOGENOMiHOG000294202
HOVERGENiHBG066988
InParanoidiQ9H0C3
OMAiNRIVLFW
OrthoDBiEOG091G0786
PhylomeDBiQ9H0C3
TreeFamiTF336012

Miscellaneous databases

ChiTaRSiTMEM117 human
GeneWikiiTMEM117
GenomeRNAii84216
PROiPR:Q9H0C3

Gene expression databases

BgeeiENSG00000139173 Expressed in 181 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_TMEM117
ExpressionAtlasiQ9H0C3 baseline and differential
GenevisibleiQ9H0C3 HS

Family and domain databases

InterProiView protein in InterPro
IPR029370 TMEM117
PANTHERiPTHR31226 PTHR31226, 1 hit
PfamiView protein in Pfam
PF15113 TMEM117, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTM117_HUMAN
AccessioniPrimary (citable) accession number: Q9H0C3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 113 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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