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Q9NPI0 (TM138_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane protein 138
Gene names
Name:TMEM138
ORF Names:HSPC196, HSPC198
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length162 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for ciliogenesis. Ref.6

Subcellular location

Vacuole membrane; Multi-pass membrane protein. Cell projectioncilium. Note: Localizes to vesicles en route to the base of cilium. Ref.6

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

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 (Ref.6).

Sequence similarities

Belongs to the TMEM138 family.

Sequence caution

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

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
   Cellular componentCell projection
Cilium
Membrane
Vacuole
   Coding sequence diversityAlternative splicing
   DiseaseCiliopathy
Disease mutation
Joubert syndrome
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcilium assembly

Inferred from mutant phenotype Ref.6. Source: UniProtKB

   Cellular_componentcilium

Inferred from direct assay Ref.6. Source: UniProtKB

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

vacuolar membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NPI0-1)

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.
Isoform 2 (identifier: Q9NPI0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     101-101: N → VRVAV
     102-162: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9NPI0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     126-162: AAVLYCYFYK...LRKEFMQVRR → GKDQSKVRPL...NRRDYCPCPC
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 162162Transmembrane protein 138
PRO_0000285700

Regions

Transmembrane7 – 2721Helical; Potential
Transmembrane41 – 6121Helical; Potential
Transmembrane80 – 10021Helical; Potential
Transmembrane110 – 13021Helical; Potential

Amino acid modifications

Glycosylation61N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1011N → VRVAV in isoform 2.
VSP_024891
Alternative sequence102 – 16261Missing in isoform 2.
VSP_024892
Alternative sequence126 – 16237AAVLY…MQVRR → GKDQSKVRPLSGPTCVSFSE GLDAGFPDLSQLAWDGCDSH TRNRRDYCPCPC in isoform 3.
VSP_042588
Natural variant961H → R in JBTS16. Ref.6
VAR_067059
Natural variant1261A → T in JBTS16. Ref.6
VAR_067060
Natural variant1271A → V in JBTS16. Ref.6
VAR_067061
Natural variant1301Y → C in JBTS16. Ref.6
VAR_067062

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 31D76DD5C95333DE

FASTA16219,262
        10         20         30         40         50         60 
MLQTSNYSLV LSLQFLLLSY DLFVNSFSEL LQKTPVIQLV LFIIQDIAVL FNIIIIFLMF 

        70         80         90        100        110        120 
FNTFVFQAGL VNLLFHKFKG TIILTAVYFA LSISLHVWVM NLRWKNSNSF IWTDGLQMLF 

       130        140        150        160 
VFQRLAAVLY CYFYKRTAVR LGDPHFYQDS LWLRKEFMQV RR 

« Hide

Isoform 2 [UniParc].

Checksum: F49B96D502046FDB
Show »

FASTA10512,080
Isoform 3 [UniParc].

Checksum: 45E38810929CE818
Show »

FASTA17720,308

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Lymph node.
[4]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
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]"Evolutionarily assembled cis-regulatory module at a human ciliopathy locus."
Lee J.H., Silhavy J.L., Lee J.E., Al-Gazali L., Thomas S., Davis E.E., Bielas S.L., Hill K.J., Iannicelli M., Brancati F., Gabriel S.B., Russ C., Logan C.V., Sharif S.M., Bennett C.P., Abe M., Hildebrandt F., Diplas B.H. expand/collapse author list , Attie-Bitach T., Katsanis N., Rajab A., Koul R., Sztriha L., Waters E.R., Ferro-Novick S., Woods G.C., Johnson C.A., Valente E.M., Zaki M.S., Gleeson J.G.
Science 335:966-969(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS JBTS16 ARG-96; THR-126; VAL-127 AND CYS-130, FUNCTION, SUBCELLULAR LOCATION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_057548.1. NM_016464.4.
UniGeneHs.406530.

3D structure databases

ProteinModelPortalQ9NPI0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000371206.

Polymorphism databases

DMDM74734306.

Proteomic databases

PRIDEQ9NPI0.

Protocols and materials databases

DNASU51524.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000278826; ENSP00000278826; ENSG00000149483. [Q9NPI0-1]
ENST00000542946; ENSP00000445792; ENSG00000149483. [Q9NPI0-2]
GeneID51524.
KEGGhsa:51524.
UCSCuc001nrl.2. human. [Q9NPI0-1]
uc010rli.2. human. [Q9NPI0-3]

Organism-specific databases

CTD51524.
GeneCardsGC11P061129.
H-InvDBHIX0009688.
HGNCHGNC:26944. TMEM138.
HPAHPA042373.
MIM614459. gene.
614465. phenotype.
neXtProtNX_Q9NPI0.
Orphanet2318. Joubert syndrome with oculorenal defect.
PharmGKBPA144596259.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG86634.
HOGENOMHOG000039473.
HOVERGENHBG056163.
InParanoidQ9NPI0.
OMASISFHVW.
OrthoDBEOG7KSXBM.
PhylomeDBQ9NPI0.
TreeFamTF315159.

Gene expression databases

ArrayExpressQ9NPI0.
BgeeQ9NPI0.
CleanExHS_TMEM138.
GenevestigatorQ9NPI0.

Family and domain databases

InterProIPR024133. TM_138.
[Graphical view]
PANTHERPTHR13306. PTHR13306. 1 hit.
ProtoNetSearch...

Other

ChiTaRSTMEM138. human.
GeneWikiTMEM138.
GenomeRNAi51524.
NextBio55232.
PROQ9NPI0.
SOURCESearch...

Entry information

Entry nameTM138_HUMAN
AccessionPrimary (citable) accession number: Q9NPI0
Secondary accession number(s): A6NGA7, B4E044, Q5JPE1
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: October 1, 2000
Last modified: March 19, 2014
This is version 84 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM