Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Transmembrane protein 165

Gene

TMEM165

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

Functioni

May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation.2 Publications

GO - Biological processi

  • cellular calcium ion homeostasis Source: UniProtKB
  • Golgi calcium ion transport Source: UniProtKB
  • protein N-linked glycosylation Source: UniProtKB
  • regulation of lysosomal lumen pH Source: UniProtKB

Protein family/group databases

TCDBi2.A.106.2.2 the ca(2+):h(+) antiporter-2 (caca2) family

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 165
Alternative name(s):
Transmembrane protein PT27
Transmembrane protein TPARL
Gene namesi
Name:TMEM165
Synonyms:TPARL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000134851.12
HGNCiHGNC:30760 TMEM165
MIMi614726 gene
neXtProtiNX_Q9HC07

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 domaini34 – 89LumenalSequence analysisAdd BLAST56
Transmembranei90 – 110HelicalSequence analysisAdd BLAST21
Topological domaini111 – 126CytoplasmicSequence analysisAdd BLAST16
Transmembranei127 – 147HelicalSequence analysisAdd BLAST21
Topological domaini148 – 151LumenalSequence analysis4
Transmembranei152 – 172HelicalSequence analysisAdd BLAST21
Topological domaini173 – 228CytoplasmicSequence analysisAdd BLAST56
Transmembranei229 – 249HelicalSequence analysisAdd BLAST21
Topological domaini250 – 267LumenalSequence analysisAdd BLAST18
Transmembranei268 – 288HelicalSequence analysisAdd BLAST21
Topological domaini289 – 299CytoplasmicSequence analysisAdd BLAST11
Transmembranei300 – 320HelicalSequence analysisAdd BLAST21
Topological domaini321 – 324LumenalSequence analysis4

Keywords - Cellular componenti

Endosome, Golgi apparatus, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 2K (CDG2K)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
See also OMIM:614727
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068446126R → C in CDG2K; alters subcellular location. 2 PublicationsCorresponds to variant dbSNP:rs387907222Ensembl.1
Natural variantiVAR_068447126R → H in CDG2K; alters subcellular location. 2 PublicationsCorresponds to variant dbSNP:rs387907221Ensembl.1
Natural variantiVAR_068448304G → R in CDG2K; accumulates in Golgi compartment. 2 PublicationsCorresponds to variant dbSNP:rs886037631Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi124Y → S: Alters subcellular location. 1 Publication1
Mutagenesisi127L → G: No effect on subcellular location. 1 Publication1
Mutagenesisi209 – 210LL → GG: No effect on subcellular location. 1 Publication2

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi55858
GeneReviewsiTMEM165
MalaCardsiTMEM165
MIMi614727 phenotype
OpenTargetsiENSG00000134851
Orphaneti314667 TMEM165-CDG
PharmGKBiPA147357214

Polymorphism and mutation databases

DMDMi74718825

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 33Sequence analysisAdd BLAST33
ChainiPRO_000024733434 – 324Transmembrane protein 165Add BLAST291

Proteomic databases

EPDiQ9HC07
MaxQBiQ9HC07
PaxDbiQ9HC07
PeptideAtlasiQ9HC07
PRIDEiQ9HC07

PTM databases

iPTMnetiQ9HC07
PhosphoSitePlusiQ9HC07
SwissPalmiQ9HC07

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000134851
CleanExiHS_TMEM165
ExpressionAtlasiQ9HC07 baseline and differential
GenevisibleiQ9HC07 HS

Organism-specific databases

HPAiHPA038299

Interactioni

Protein-protein interaction databases

BioGridi120960, 30 interactors
IntActiQ9HC07, 30 interactors
MINTiQ9HC07
STRINGi9606.ENSP00000370736

Structurei

3D structure databases

ProteinModelPortaliQ9HC07
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili184 – 211Sequence analysisAdd BLAST28

Sequence similaritiesi

Belongs to the GDT1 family.Curated

Keywords - Domaini

Coiled coil, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2881 Eukaryota
COG2119 LUCA
GeneTreeiENSGT00390000005261
HOGENOMiHOG000224541
HOVERGENiHBG002358
InParanoidiQ9HC07
OMAiPIFVQAF
OrthoDBiEOG091G0LRI
PhylomeDBiQ9HC07
TreeFamiTF105960

Family and domain databases

InterProiView protein in InterPro
IPR001727 Gdt1
PANTHERiPTHR12608 PTHR12608, 1 hit
PfamiView protein in Pfam
PF01169 UPF0016, 2 hits
PROSITEiView protein in PROSITE
PS01214 UPF0016, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9HC07-1) [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
MAAAAPGNGR ASAPRLLLLF LVPLLWAPAA VRAGPDEDLS HRNKEPPAPA
60 70 80 90 100
QQLQPQPVAV QGPEPARVEK IFTPAAPVHT NKEDPATQTN LGFIHAFVAA
110 120 130 140 150
ISVIIVSELG DKTFFIAAIM AMRYNRLTVL AGAMLALGLM TCLSVLFGYA
160 170 180 190 200
TTVIPRVYTY YVSTVLFAIF GIRMLREGLK MSPDEGQEEL EEVQAELKKK
210 220 230 240 250
DEEFQRTKLL NGPGDVETGT SITVPQKKWL HFISPIFVQA LTLTFLAEWG
260 270 280 290 300
DRSQLTTIVL AAREDPYGVA VGGTVGHCLC TGLAVIGGRM IAQKISVRTV
310 320
TIIGGIVFLA FAFSALFISP DSGF
Length:324
Mass (Da):34,906
Last modified:March 1, 2001 - v1
Checksum:iA0E6C8BBFF189D72
GO
Isoform 2 (identifier: Q9HC07-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-69: MAAAAPGNGRASAPRLLLLFLVPLLWAPAAVRAGPDEDLSHRNKEPPAPAQQLQPQPVAVQGPEPARVE → MEIPMQ

Note: No experimental confirmation available.
Show »
Length:261
Mass (Da):28,432
Checksum:i16F4AA6268D395EF
GO

Sequence cautioni

The sequence AAF67653 differs from that shown. Reason: Frameshift at positions 2 and 7.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068446126R → C in CDG2K; alters subcellular location. 2 PublicationsCorresponds to variant dbSNP:rs387907222Ensembl.1
Natural variantiVAR_068447126R → H in CDG2K; alters subcellular location. 2 PublicationsCorresponds to variant dbSNP:rs387907221Ensembl.1
Natural variantiVAR_068448304G → R in CDG2K; accumulates in Golgi compartment. 2 PublicationsCorresponds to variant dbSNP:rs886037631Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0566911 – 69MAAAA…PARVE → MEIPMQ in isoform 2. 1 PublicationAdd BLAST69

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF132746 mRNA Translation: AAL75947.1
AF183409 mRNA Translation: AAG09678.1
AF220188 mRNA Translation: AAF67653.1 Frameshift.
AK290663 mRNA Translation: BAF83352.1
AK295289 mRNA Translation: BAG58273.1
AC069200 Genomic DNA No translation available.
CH471057 Genomic DNA Translation: EAX05467.1
BC003545 mRNA Translation: AAH03545.2
BC104980 mRNA Translation: AAI04981.1
BC104978 mRNA Translation: AAI04979.1
BC107582 mRNA Translation: AAI07583.1
CCDSiCCDS3499.1 [Q9HC07-1]
RefSeqiNP_060945.2, NM_018475.4 [Q9HC07-1]
XP_016863901.1, XM_017008412.1 [Q9HC07-2]
UniGeneiHs.479766

Genome annotation databases

EnsembliENST00000381334; ENSP00000370736; ENSG00000134851 [Q9HC07-1]
GeneIDi55858
KEGGihsa:55858
UCSCiuc003hax.4 human [Q9HC07-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTM165_HUMAN
AccessioniPrimary (citable) accession number: Q9HC07
Secondary accession number(s): A8K3P8
, B4DHW1, Q9BTN9, Q9NZ34
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: March 1, 2001
Last modified: March 28, 2018
This is version 119 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health