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Protein

Transmembrane protein 138

Gene

TMEM138

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

Functioni

Required for ciliogenesis.1 Publication

Miscellaneous

TMEM138 and TMEM216 genes are adjacent and are aligned in a head-to-tail configuration. They share some cis regulatory region and display coordinated expression. Genes were joined by chromosomal rearrangement at the amphiboan to reptile evolutionary transition around 340 million years ago (PubMed:22282472).1 Publication

GO - Biological processi

  • cilium assembly Source: UniProtKB

Keywordsi

Biological processCilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 138
Gene namesi
Name:TMEM138
ORF Names:HSPC196, HSPC198
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000149483.11
HGNCiHGNC:26944 TMEM138
MIMi614459 gene
neXtProtiNX_Q9NPI0

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei7 – 27HelicalSequence analysisAdd BLAST21
Transmembranei41 – 61HelicalSequence analysisAdd BLAST21
Transmembranei80 – 100HelicalSequence analysisAdd BLAST21
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell projection, Cilium, Membrane, Vacuole

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 16 (JBTS16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly.
See also OMIM:614465
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06705996H → R in JBTS16. 1 PublicationCorresponds to variant dbSNP:rs387907132EnsemblClinVar.1
Natural variantiVAR_067060126A → T in JBTS16. 1 PublicationCorresponds to variant dbSNP:rs387907134EnsemblClinVar.1
Natural variantiVAR_067061127A → V in JBTS16. 1 PublicationCorresponds to variant dbSNP:rs387907133EnsemblClinVar.1
Natural variantiVAR_067062130Y → C in JBTS16. 1 PublicationCorresponds to variant dbSNP:rs387907135EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNETi51524
GeneReviewsiTMEM138
MalaCardsiTMEM138
MIMi614465 phenotype
OpenTargetsiENSG00000149483
Orphaneti2318 Joubert syndrome with oculorenal defect
PharmGKBiPA144596259

Polymorphism and mutation databases

BioMutaiTMEM138
DMDMi74734306

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002857001 – 162Transmembrane protein 138Add BLAST162

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi6N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9NPI0
MaxQBiQ9NPI0
PaxDbiQ9NPI0
PeptideAtlasiQ9NPI0
PRIDEiQ9NPI0
ProteomicsDBi82014
82015 [Q9NPI0-2]
82016 [Q9NPI0-3]

PTM databases

iPTMnetiQ9NPI0
PhosphoSitePlusiQ9NPI0

Expressioni

Gene expression databases

BgeeiENSG00000149483 Expressed in 186 organ(s), highest expression level in right adrenal gland cortex
CleanExiHS_TMEM138
ExpressionAtlasiQ9NPI0 baseline and differential
GenevisibleiQ9NPI0 HS

Organism-specific databases

HPAiHPA042373

Interactioni

Protein-protein interaction databases

BioGridi119587, 1 interactor
IntActiQ9NPI0, 1 interactor
STRINGi9606.ENSP00000278826

Structurei

3D structure databases

ProteinModelPortaliQ9NPI0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM138 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IW1C Eukaryota
ENOG4111KQC LUCA
GeneTreeiENSGT00390000018587
HOGENOMiHOG000039473
HOVERGENiHBG056163
InParanoidiQ9NPI0
KOiK22867
OMAiVWIMNLR
OrthoDBiEOG091G0TCM
PhylomeDBiQ9NPI0
TreeFamiTF315159

Family and domain databases

InterProiView protein in InterPro
IPR024133 TM_138
PANTHERiPTHR13306 PTHR13306, 1 hit
PfamiView protein in Pfam
PF14935 TMEM138, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 1 (identifier: Q9NPI0-1) [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
MLQTSNYSLV LSLQFLLLSY DLFVNSFSEL LQKTPVIQLV LFIIQDIAVL
60 70 80 90 100
FNIIIIFLMF FNTFVFQAGL VNLLFHKFKG TIILTAVYFA LSISLHVWVM
110 120 130 140 150
NLRWKNSNSF IWTDGLQMLF VFQRLAAVLY CYFYKRTAVR LGDPHFYQDS
160
LWLRKEFMQV RR
Length:162
Mass (Da):19,262
Last modified:October 1, 2000 - v1
Checksum:i31D76DD5C95333DE
GO
Isoform 2 (identifier: Q9NPI0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-101: N → VRVAV
     102-162: Missing.

Note: No experimental confirmation available.
Show »
Length:105
Mass (Da):12,080
Checksum:iF49B96D502046FDB
GO
Isoform 3 (identifier: Q9NPI0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     126-162: AAVLYCYFYK...LRKEFMQVRR → GKDQSKVRPL...NRRDYCPCPC

Note: No experimental confirmation available.
Show »
Length:177
Mass (Da):20,308
Checksum:i45E38810929CE818
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QSZ6J3QSZ6_HUMAN
Transmembrane protein 138
TMEM138
104Annotation score:

Sequence cautioni

The sequence CAI46174 differs from that shown. Reason: Frameshift at position 101.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06705996H → R in JBTS16. 1 PublicationCorresponds to variant dbSNP:rs387907132EnsemblClinVar.1
Natural variantiVAR_067060126A → T in JBTS16. 1 PublicationCorresponds to variant dbSNP:rs387907134EnsemblClinVar.1
Natural variantiVAR_067061127A → V in JBTS16. 1 PublicationCorresponds to variant dbSNP:rs387907133EnsemblClinVar.1
Natural variantiVAR_067062130Y → C in JBTS16. 1 PublicationCorresponds to variant dbSNP:rs387907135EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024891101N → VRVAV in isoform 2. 1 Publication1
Alternative sequenceiVSP_024892102 – 162Missing in isoform 2. 1 PublicationAdd BLAST61
Alternative sequenceiVSP_042588126 – 162AAVLY…MQVRR → GKDQSKVRPLSGPTCVSFSE GLDAGFPDLSQLAWDGCDSH TRNRRDYCPCPC in isoform 3. 1 PublicationAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK303219 mRNA Translation: BAG64306.1
AF151030 mRNA Translation: AAF36116.1
AF151032 mRNA Translation: AAF36118.1
AL832879 Transcribed RNA Translation: CAI46174.1 Frameshift.
AP003108 Genomic DNA No translation available.
BC005201 mRNA Translation: AAH05201.1
CCDSiCCDS8005.1 [Q9NPI0-1]
RefSeqiNP_057548.1, NM_016464.4 [Q9NPI0-1]
XP_006718648.1, XM_006718585.3 [Q9NPI0-3]
UniGeneiHs.406530

Genome annotation databases

EnsembliENST00000278826; ENSP00000278826; ENSG00000149483 [Q9NPI0-1]
ENST00000542946; ENSP00000445792; ENSG00000149483 [Q9NPI0-2]
GeneIDi51524
KEGGihsa:51524
UCSCiuc001nrl.3 human [Q9NPI0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK303219 mRNA Translation: BAG64306.1
AF151030 mRNA Translation: AAF36116.1
AF151032 mRNA Translation: AAF36118.1
AL832879 Transcribed RNA Translation: CAI46174.1 Frameshift.
AP003108 Genomic DNA No translation available.
BC005201 mRNA Translation: AAH05201.1
CCDSiCCDS8005.1 [Q9NPI0-1]
RefSeqiNP_057548.1, NM_016464.4 [Q9NPI0-1]
XP_006718648.1, XM_006718585.3 [Q9NPI0-3]
UniGeneiHs.406530

3D structure databases

ProteinModelPortaliQ9NPI0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119587, 1 interactor
IntActiQ9NPI0, 1 interactor
STRINGi9606.ENSP00000278826

PTM databases

iPTMnetiQ9NPI0
PhosphoSitePlusiQ9NPI0

Polymorphism and mutation databases

BioMutaiTMEM138
DMDMi74734306

Proteomic databases

EPDiQ9NPI0
MaxQBiQ9NPI0
PaxDbiQ9NPI0
PeptideAtlasiQ9NPI0
PRIDEiQ9NPI0
ProteomicsDBi82014
82015 [Q9NPI0-2]
82016 [Q9NPI0-3]

Protocols and materials databases

DNASUi51524
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278826; ENSP00000278826; ENSG00000149483 [Q9NPI0-1]
ENST00000542946; ENSP00000445792; ENSG00000149483 [Q9NPI0-2]
GeneIDi51524
KEGGihsa:51524
UCSCiuc001nrl.3 human [Q9NPI0-1]

Organism-specific databases

CTDi51524
DisGeNETi51524
EuPathDBiHostDB:ENSG00000149483.11
GeneCardsiTMEM138
GeneReviewsiTMEM138
H-InvDBiHIX0009688
HGNCiHGNC:26944 TMEM138
HPAiHPA042373
MalaCardsiTMEM138
MIMi614459 gene
614465 phenotype
neXtProtiNX_Q9NPI0
OpenTargetsiENSG00000149483
Orphaneti2318 Joubert syndrome with oculorenal defect
PharmGKBiPA144596259
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IW1C Eukaryota
ENOG4111KQC LUCA
GeneTreeiENSGT00390000018587
HOGENOMiHOG000039473
HOVERGENiHBG056163
InParanoidiQ9NPI0
KOiK22867
OMAiVWIMNLR
OrthoDBiEOG091G0TCM
PhylomeDBiQ9NPI0
TreeFamiTF315159

Miscellaneous databases

ChiTaRSiTMEM138 human
GeneWikiiTMEM138
GenomeRNAii51524
PROiPR:Q9NPI0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149483 Expressed in 186 organ(s), highest expression level in right adrenal gland cortex
CleanExiHS_TMEM138
ExpressionAtlasiQ9NPI0 baseline and differential
GenevisibleiQ9NPI0 HS

Family and domain databases

InterProiView protein in InterPro
IPR024133 TM_138
PANTHERiPTHR13306 PTHR13306, 1 hit
PfamiView protein in Pfam
PF14935 TMEM138, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTM138_HUMAN
AccessioniPrimary (citable) accession number: Q9NPI0
Secondary accession number(s): A6NGA7, B4E044, Q5JPE1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: October 1, 2000
Last modified: October 10, 2018
This is version 111 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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