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Protein

Transmembrane protein 17

Gene

TMEM17

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

Functioni

Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).By similarity

GO - Biological processi

  • cilium assembly Source: UniProtKB
  • non-motile cilium assembly Source: WormBase
  • smoothened signaling pathway Source: UniProtKB

Keywordsi

Biological processCilium biogenesis/degradation

Protein family/group databases

MoonDBiQ86X19 Predicted
TCDBi9.B.204.1.1 the 4 tms ciliary biogenesis tmem17 (tmem17) family

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 17
Gene namesi
Name:TMEM17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000186889.9
HGNCiHGNC:26623 TMEM17
MIMi614950 gene
neXtProtiNX_Q86X19

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
Transmembranei45 – 65HelicalSequence analysisAdd BLAST21
Transmembranei78 – 98HelicalSequence analysisAdd BLAST21
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Transmembranei142 – 162HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

Pathology & Biotechi

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi200728
OpenTargetsiENSG00000186889
PharmGKBiPA134962933

Polymorphism and mutation databases

BioMutaiTMEM17
DMDMi117949799

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002552601 – 198Transmembrane protein 17Add BLAST198

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi13N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi23N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ86X19
PaxDbiQ86X19
PeptideAtlasiQ86X19
PRIDEiQ86X19
ProteomicsDBi70222

PTM databases

iPTMnetiQ86X19
PhosphoSitePlusiQ86X19

Expressioni

Gene expression databases

BgeeiENSG00000186889 Expressed in 165 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_TMEM17
GenevisibleiQ86X19 HS

Organism-specific databases

HPAiHPA018100

Interactioni

Subunit structurei

Part of the tectonic-like complex (also named B9 complex).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
YIF1AO950703EBI-11343485,EBI-2799703

Protein-protein interaction databases

BioGridi128342, 400 interactors
IntActiQ86X19, 403 interactors
STRINGi9606.ENSP00000335094

Structurei

3D structure databases

ProteinModelPortaliQ86X19
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM17 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4694 Eukaryota
ENOG4111T47 LUCA
GeneTreeiENSGT00390000006643
HOGENOMiHOG000253940
HOVERGENiHBG088848
InParanoidiQ86X19
KOiK19384
OMAiRTGPEYN
OrthoDBiEOG091G0PKA
PhylomeDBiQ86X19
TreeFamiTF323824

Family and domain databases

InterProiView protein in InterPro
IPR019184 Uncharacterised_TM-17
PANTHERiPTHR13531 PTHR13531, 1 hit
PfamiView protein in Pfam
PF09799 Transmemb_17, 1 hit

Sequencei

Sequence statusi: Complete.

Q86X19-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MELPDPVRQR LGNFSRAVFS DSNRTGPESN EGPENEMVSS LALQMSLYFN
60 70 80 90 100
TYYFPLWWVS SIMMLHMKYS ILPDYYKFIV ITVIILITLI EAIRLYLGYV
110 120 130 140 150
GNLQEKVPEL AGFWLLSLLL QLPLILFLLF NEGLTNLPLE KAIHIIFTLF
160 170 180 190
LAFQVVAAFL TLRKMVNQLA VRFHLQDFDR LSANRGDMRR MRSCIEEI
Length:198
Mass (Da):23,046
Last modified:October 31, 2006 - v2
Checksum:i5865AD283F595C3F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02886426G → S1 PublicationCorresponds to variant dbSNP:rs17854454Ensembl.1
Natural variantiVAR_075897102N → K Found in a family diagnosed with orofaciodigital syndrome; unknown pathological significance; reduced cilia formation in patient fibroblasts compared to control. 1 PublicationCorresponds to variant dbSNP:rs201339749EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC093159 Genomic DNA Translation: AAY24170.1
AC107083 Genomic DNA Translation: AAY24048.1
BC047439 mRNA Translation: AAH47439.1
CCDSiCCDS1871.1
RefSeqiNP_938017.2, NM_198276.2
UniGeneiHs.308028

Genome annotation databases

EnsembliENST00000335390; ENSP00000335094; ENSG00000186889
GeneIDi200728
KEGGihsa:200728
UCSCiuc002sbt.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC093159 Genomic DNA Translation: AAY24170.1
AC107083 Genomic DNA Translation: AAY24048.1
BC047439 mRNA Translation: AAH47439.1
CCDSiCCDS1871.1
RefSeqiNP_938017.2, NM_198276.2
UniGeneiHs.308028

3D structure databases

ProteinModelPortaliQ86X19
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128342, 400 interactors
IntActiQ86X19, 403 interactors
STRINGi9606.ENSP00000335094

Protein family/group databases

MoonDBiQ86X19 Predicted
TCDBi9.B.204.1.1 the 4 tms ciliary biogenesis tmem17 (tmem17) family

PTM databases

iPTMnetiQ86X19
PhosphoSitePlusiQ86X19

Polymorphism and mutation databases

BioMutaiTMEM17
DMDMi117949799

Proteomic databases

EPDiQ86X19
PaxDbiQ86X19
PeptideAtlasiQ86X19
PRIDEiQ86X19
ProteomicsDBi70222

Protocols and materials databases

DNASUi200728
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335390; ENSP00000335094; ENSG00000186889
GeneIDi200728
KEGGihsa:200728
UCSCiuc002sbt.3 human

Organism-specific databases

CTDi200728
DisGeNETi200728
EuPathDBiHostDB:ENSG00000186889.9
GeneCardsiTMEM17
HGNCiHGNC:26623 TMEM17
HPAiHPA018100
MIMi614950 gene
neXtProtiNX_Q86X19
OpenTargetsiENSG00000186889
PharmGKBiPA134962933
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4694 Eukaryota
ENOG4111T47 LUCA
GeneTreeiENSGT00390000006643
HOGENOMiHOG000253940
HOVERGENiHBG088848
InParanoidiQ86X19
KOiK19384
OMAiRTGPEYN
OrthoDBiEOG091G0PKA
PhylomeDBiQ86X19
TreeFamiTF323824

Miscellaneous databases

GenomeRNAii200728
PROiPR:Q86X19
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186889 Expressed in 165 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_TMEM17
GenevisibleiQ86X19 HS

Family and domain databases

InterProiView protein in InterPro
IPR019184 Uncharacterised_TM-17
PANTHERiPTHR13531 PTHR13531, 1 hit
PfamiView protein in Pfam
PF09799 Transmemb_17, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTMM17_HUMAN
AccessioniPrimary (citable) accession number: Q86X19
Secondary accession number(s): Q53QP7, Q53R98
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: November 7, 2018
This is version 99 of the entry and version 2 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 chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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