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Q9NPI0

- TM138_HUMAN

UniProt

Q9NPI0 - TM138_HUMAN

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Protein

Transmembrane protein 138

Gene

TMEM138

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Required for ciliogenesis.1 Publication

GO - Biological processi

  1. cilium assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium 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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:26944. TMEM138.

Subcellular locationi

Vacuole membrane 1 Publication; Multi-pass membrane protein 1 Publication. Cell projectioncilium 1 Publication
Note: Localizes to vesicles en route to the base of cilium.

GO - Cellular componenti

  1. cilium Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
  3. vacuole Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Membrane, Vacuole

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 16 (JBTS16) [MIM:614465]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961H → R in JBTS16. 1 Publication
VAR_067059
Natural varianti126 – 1261A → T in JBTS16. 1 Publication
VAR_067060
Natural varianti127 – 1271A → V in JBTS16. 1 Publication
VAR_067061
Natural varianti130 – 1301Y → C in JBTS16. 1 Publication
VAR_067062

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

MIMi614465. phenotype.
Orphaneti2318. Joubert syndrome with oculorenal defect.
PharmGKBiPA144596259.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 162162Transmembrane protein 138PRO_0000285700Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi6 – 61N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9NPI0.
PRIDEiQ9NPI0.

Expressioni

Gene expression databases

BgeeiQ9NPI0.
CleanExiHS_TMEM138.
ExpressionAtlasiQ9NPI0. baseline and differential.
GenevestigatoriQ9NPI0.

Organism-specific databases

HPAiHPA042373.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000371206.

Structurei

3D structure databases

ProteinModelPortaliQ9NPI0.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei7 – 2721HelicalSequence AnalysisAdd
BLAST
Transmembranei41 – 6121HelicalSequence AnalysisAdd
BLAST
Transmembranei80 – 10021HelicalSequence AnalysisAdd
BLAST
Transmembranei110 – 13021HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM138 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG86634.
GeneTreeiENSGT00390000018587.
HOGENOMiHOG000039473.
HOVERGENiHBG056163.
InParanoidiQ9NPI0.
OMAiAVLYYYF.
OrthoDBiEOG7KSXBM.
PhylomeDBiQ9NPI0.
TreeFamiTF315159.

Family and domain databases

InterProiIPR024133. TM_138.
[Graphical view]
PANTHERiPTHR13306. PTHR13306. 1 hit.
PfamiPF14935. TMEM138. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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

Sequence cautioni

The sequence CAI46174.1 differs from that shown. Reason: Frameshift at position 101.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961H → R in JBTS16. 1 Publication
VAR_067059
Natural varianti126 – 1261A → T in JBTS16. 1 Publication
VAR_067060
Natural varianti127 – 1271A → V in JBTS16. 1 Publication
VAR_067061
Natural varianti130 – 1301Y → C in JBTS16. 1 Publication
VAR_067062

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei101 – 1011N → VRVAV in isoform 2. 1 PublicationVSP_024891
Alternative sequencei102 – 16261Missing in isoform 2. 1 PublicationVSP_024892Add
BLAST
Alternative sequencei126 – 16237AAVLY…MQVRR → GKDQSKVRPLSGPTCVSFSE GLDAGFPDLSQLAWDGCDSH TRNRRDYCPCPC in isoform 3. 1 PublicationVSP_042588Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006718585.1. [Q9NPI0-3]
UniGeneiHs.406530.

Genome annotation databases

EnsembliENST00000278826; ENSP00000278826; ENSG00000149483. [Q9NPI0-1]
ENST00000542946; ENSP00000445792; ENSG00000149483. [Q9NPI0-2]
GeneIDi51524.
KEGGihsa:51524.
UCSCiuc001nrl.2. human. [Q9NPI0-1]
uc010rli.2. human. [Q9NPI0-3]

Polymorphism databases

DMDMi74734306.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS8005.1. [Q9NPI0-1 ]
RefSeqi NP_057548.1. NM_016464.4. [Q9NPI0-1 ]
XP_006718648.1. XM_006718585.1. [Q9NPI0-3 ]
UniGenei Hs.406530.

3D structure databases

ProteinModelPortali Q9NPI0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000371206.

Polymorphism databases

DMDMi 74734306.

Proteomic databases

MaxQBi Q9NPI0.
PRIDEi Q9NPI0.

Protocols and materials databases

DNASUi 51524.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000278826 ; ENSP00000278826 ; ENSG00000149483 . [Q9NPI0-1 ]
ENST00000542946 ; ENSP00000445792 ; ENSG00000149483 . [Q9NPI0-2 ]
GeneIDi 51524.
KEGGi hsa:51524.
UCSCi uc001nrl.2. human. [Q9NPI0-1 ]
uc010rli.2. human. [Q9NPI0-3 ]

Organism-specific databases

CTDi 51524.
GeneCardsi GC11P061129.
GeneReviewsi TMEM138.
H-InvDB HIX0009688.
HGNCi HGNC:26944. TMEM138.
HPAi HPA042373.
MIMi 614459. gene.
614465. phenotype.
neXtProti NX_Q9NPI0.
Orphaneti 2318. Joubert syndrome with oculorenal defect.
PharmGKBi PA144596259.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG86634.
GeneTreei ENSGT00390000018587.
HOGENOMi HOG000039473.
HOVERGENi HBG056163.
InParanoidi Q9NPI0.
OMAi AVLYYYF.
OrthoDBi EOG7KSXBM.
PhylomeDBi Q9NPI0.
TreeFami TF315159.

Miscellaneous databases

ChiTaRSi TMEM138. human.
GeneWikii TMEM138.
GenomeRNAii 51524.
NextBioi 55232.
PROi Q9NPI0.
SOURCEi Search...

Gene expression databases

Bgeei Q9NPI0.
CleanExi HS_TMEM138.
ExpressionAtlasi Q9NPI0. baseline and differential.
Genevestigatori Q9NPI0.

Family and domain databases

InterProi IPR024133. TM_138.
[Graphical view ]
PANTHERi PTHR13306. PTHR13306. 1 hit.
Pfami PF14935. TMEM138. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Thymus.
  2. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
    Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
    , Gu J., Chen S.-J., Chen Z.
    Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Umbilical cord blood.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Lymph node.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Urinary bladder.
  6. Cited for: VARIANTS JBTS16 ARG-96; THR-126; VAL-127 AND CYS-130, FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiTM138_HUMAN
AccessioniPrimary (citable) accession number: Q9NPI0
Secondary accession number(s): A6NGA7, B4E044, Q5JPE1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: October 1, 2000
Last modified: October 29, 2014
This is version 88 of the entry and version 1 of the sequence. [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

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 chromoaomal rearrangement at the amphiboan to reptile evolutionary transition around 340 million years ago (PubMed:22282472).1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3