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Q9NPI0

- TM138_HUMAN

UniProt

Q9NPI0 - TM138_HUMAN

Protein

Transmembrane protein 138

Gene

TMEM138

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

    Required for ciliogenesis.1 Publication

    GO - Biological processi

    1. cilium assembly Source: UniProtKB

    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. vacuolar membrane Source: UniProtKB-SubCell

    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

    ArrayExpressiQ9NPI0.
    BgeeiQ9NPI0.
    CleanExiHS_TMEM138.
    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.
    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

    MLQTSNYSLV LSLQFLLLSY DLFVNSFSEL LQKTPVIQLV LFIIQDIAVL    50
    FNIIIIFLMF FNTFVFQAGL VNLLFHKFKG TIILTAVYFA LSISLHVWVM 100
    NLRWKNSNSF IWTDGLQMLF VFQRLAAVLY CYFYKRTAVR LGDPHFYQDS 150
    LWLRKEFMQV RR 162
    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.
    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

    ArrayExpressi Q9NPI0.
    Bgeei Q9NPI0.
    CleanExi HS_TMEM138.
    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

    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 1, 2014
    This is version 87 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