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Q96Q45

- TM237_HUMAN

UniProt

Q96Q45 - TM237_HUMAN

Protein

Transmembrane protein 237

Gene

TMEM237

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 2 (22 Feb 2012)
      Previous versions | rss
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    Functioni

    Component of the transition zone in primary cilia. Required for ciliogenesis.1 Publication

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. regulation of Wnt signaling pathway Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane protein 237
    Alternative name(s):
    Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein
    Gene namesi
    Name:TMEM237
    Synonyms:ALS2CR4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:14432. TMEM237.

    Subcellular locationi

    Membrane Curated; Multi-pass membrane protein Curated. Cell projectioncilium 1 Publication
    Note: Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.

    GO - Cellular componenti

    1. ciliary transition zone Source: UniProtKB
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Joubert syndrome 14 (JBTS14) [MIM:614424]: An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include renal disease, abnormal eye movements, and postaxial polydactyly.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Joubert syndrome

    Organism-specific databases

    MIMi614424. phenotype.
    Orphaneti475. Joubert syndrome.
    220493. Joubert syndrome with ocular defect.
    2318. Joubert syndrome with oculorenal defect.
    220497. Joubert syndrome with renal defect.
    PharmGKBiPA24745.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 408408Transmembrane protein 237PRO_0000076169Add
    BLAST

    Proteomic databases

    MaxQBiQ96Q45.
    PaxDbiQ96Q45.
    PRIDEiQ96Q45.

    PTM databases

    PhosphoSiteiQ96Q45.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96Q45.
    BgeeiQ96Q45.
    CleanExiHS_ALS2CR4.
    GenevestigatoriQ96Q45.

    Organism-specific databases

    HPAiHPA052596.
    HPA054732.

    Interactioni

    Protein-protein interaction databases

    BioGridi122382. 4 interactions.
    IntActiQ96Q45. 2 interactions.
    STRINGi9606.ENSP00000380113.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96Q45.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei227 – 24721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei268 – 28821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei303 – 32321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei358 – 37821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TMEM237 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG71278.
    HOGENOMiHOG000033887.
    HOVERGENiHBG060391.
    InParanoidiQ96Q45.
    OMAiSWLFLSY.
    OrthoDBiEOG7T4MKS.
    TreeFamiTF329703.

    Family and domain databases

    InterProiIPR029409. TMEM237.
    [Graphical view]
    PfamiPF15383. TMEM237. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96Q45-1) [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

    MRTDSGARLE EGHLRPPRAL PPVPSQDDIP LSRPKKKKPR TKNTPASASL    50
    EGLAQTAGRR PSEGNEPSTK ELKEHPEAPV QRRQKKTRLP LELETSSTQK 100
    KSSSSSLLRN ENGIDAEPAE EAVIQKPRRK TKKTQPAELQ YANELGVEDE 150
    DIITDEQTTV EQQSVFTAPT GISQPVGKVF VEKSRRFQAA DRSELIKTTE 200
    NIDVSMDVKP SWTTRDVALT VHRAFRMIGL FSHGFLAGCA VWNIVVIYVL 250
    AGDQLSNLSN LLQQYKTLAY PFQSLLYLLL ALSTISAFDR IDFAKISVAI 300
    RNFLALDPTA LASFLYFTAL ILSLSQQMTS DRIHLYTPSS VNGSLWEAGI 350
    EEQILQPWIV VNLVVALLVG LSWLFLSYRP GMDLSEELMF SSEVEEYPDK 400
    EKEIKASS 408
    Length:408
    Mass (Da):45,526
    Last modified:February 22, 2012 - v2
    Checksum:i5FF78A331490D190
    GO
    Isoform 2 (identifier: Q96Q45-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: MRTDSGARLEEGHL → MGKNPV

    Show »
    Length:400
    Mass (Da):44,599
    Checksum:iB1CFB9BF7823402D
    GO
    Isoform 3 (identifier: Q96Q45-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: MRTDSGARLEEGHL → MTHCACARDRAREGWGARCLGARRPPRPAKRRMGKNPV

    Show »
    Length:432
    Mass (Da):48,244
    Checksum:i102BEFC17FEF823D
    GO
    Isoform 4 (identifier: Q96Q45-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         36-130: Missing.

    Show »
    Length:313
    Mass (Da):35,017
    Checksum:i0A2905B0D4DF85A4
    GO
    Isoform 5 (identifier: Q96Q45-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         132-132: K → KRPYYR

    Show »
    Length:413
    Mass (Da):46,262
    Checksum:iF99A2856335DC3A9
    GO

    Sequence cautioni

    The sequence AAY14694.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence AAY15056.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti20 – 201L → I in AAH29611. (PubMed:15489334)Curated
    Sequence conflicti118 – 1181P → Q in AAH29611. (PubMed:15489334)Curated
    Sequence conflicti158 – 1581T → A in BAG64880. (PubMed:14702039)Curated
    Sequence conflicti215 – 2151R → I in AAH29611. (PubMed:15489334)Curated
    Sequence conflicti261 – 2611L → I in AAH29611. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti155 – 1551D → A Found at heterozygosity in a patient with Bardet-Biedl syndrome also carrying BBS6 mutation A-57 in MKKS; hypomorphic variant. 1 Publication
    VAR_067019

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1414MRTDS…EEGHL → MGKNPV in isoform 2. 2 PublicationsVSP_016628Add
    BLAST
    Alternative sequencei1 – 1414MRTDS…EEGHL → MTHCACARDRAREGWGARCL GARRPPRPAKRRMGKNPV in isoform 3. 1 PublicationVSP_042381Add
    BLAST
    Alternative sequencei36 – 13095Missing in isoform 4. 1 PublicationVSP_042382Add
    BLAST
    Alternative sequencei132 – 1321K → KRPYYR in isoform 5. 1 PublicationVSP_042383

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB053301 mRNA. Translation: BAB69011.1.
    AK090601 mRNA. Translation: BAC03487.1.
    AK303954 mRNA. Translation: BAG64880.1.
    AK304395 mRNA. Translation: BAG65230.1.
    AC007279 Genomic DNA. Translation: AAY15056.1. Sequence problems.
    AC007282 Genomic DNA. Translation: AAY14694.1. Sequence problems.
    BC013730 mRNA. Translation: AAH13730.1.
    BC029611 mRNA. Translation: AAH29611.1.
    BX538000 mRNA. Translation: CAD97955.1.
    CCDSiCCDS46489.1. [Q96Q45-1]
    CCDS46490.1. [Q96Q45-2]
    RefSeqiNP_001037850.1. NM_001044385.2. [Q96Q45-1]
    NP_689601.2. NM_152388.3. [Q96Q45-2]
    UniGeneiHs.12319.

    Genome annotation databases

    EnsembliENST00000409444; ENSP00000387203; ENSG00000155755. [Q96Q45-2]
    ENST00000409883; ENSP00000386264; ENSG00000155755. [Q96Q45-1]
    GeneIDi65062.
    KEGGihsa:65062.
    UCSCiuc010zho.1. human. [Q96Q45-4]
    uc021vvd.2. human. [Q96Q45-2]
    uc021vvf.2. human. [Q96Q45-1]

    Polymorphism databases

    DMDMi378405209.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB053301 mRNA. Translation: BAB69011.1 .
    AK090601 mRNA. Translation: BAC03487.1 .
    AK303954 mRNA. Translation: BAG64880.1 .
    AK304395 mRNA. Translation: BAG65230.1 .
    AC007279 Genomic DNA. Translation: AAY15056.1 . Sequence problems.
    AC007282 Genomic DNA. Translation: AAY14694.1 . Sequence problems.
    BC013730 mRNA. Translation: AAH13730.1 .
    BC029611 mRNA. Translation: AAH29611.1 .
    BX538000 mRNA. Translation: CAD97955.1 .
    CCDSi CCDS46489.1. [Q96Q45-1 ]
    CCDS46490.1. [Q96Q45-2 ]
    RefSeqi NP_001037850.1. NM_001044385.2. [Q96Q45-1 ]
    NP_689601.2. NM_152388.3. [Q96Q45-2 ]
    UniGenei Hs.12319.

    3D structure databases

    ProteinModelPortali Q96Q45.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122382. 4 interactions.
    IntActi Q96Q45. 2 interactions.
    STRINGi 9606.ENSP00000380113.

    PTM databases

    PhosphoSitei Q96Q45.

    Polymorphism databases

    DMDMi 378405209.

    Proteomic databases

    MaxQBi Q96Q45.
    PaxDbi Q96Q45.
    PRIDEi Q96Q45.

    Protocols and materials databases

    DNASUi 65062.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000409444 ; ENSP00000387203 ; ENSG00000155755 . [Q96Q45-2 ]
    ENST00000409883 ; ENSP00000386264 ; ENSG00000155755 . [Q96Q45-1 ]
    GeneIDi 65062.
    KEGGi hsa:65062.
    UCSCi uc010zho.1. human. [Q96Q45-4 ]
    uc021vvd.2. human. [Q96Q45-2 ]
    uc021vvf.2. human. [Q96Q45-1 ]

    Organism-specific databases

    CTDi 65062.
    GeneCardsi GC02M202484.
    GeneReviewsi TMEM237.
    HGNCi HGNC:14432. TMEM237.
    HPAi HPA052596.
    HPA054732.
    MIMi 614423. gene.
    614424. phenotype.
    neXtProti NX_Q96Q45.
    Orphaneti 475. Joubert syndrome.
    220493. Joubert syndrome with ocular defect.
    2318. Joubert syndrome with oculorenal defect.
    220497. Joubert syndrome with renal defect.
    PharmGKBi PA24745.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG71278.
    HOGENOMi HOG000033887.
    HOVERGENi HBG060391.
    InParanoidi Q96Q45.
    OMAi SWLFLSY.
    OrthoDBi EOG7T4MKS.
    TreeFami TF329703.

    Miscellaneous databases

    GenomeRNAii 65062.
    NextBioi 67248.
    PROi Q96Q45.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96Q45.
    Bgeei Q96Q45.
    CleanExi HS_ALS2CR4.
    Genevestigatori Q96Q45.

    Family and domain databases

    InterProi IPR029409. TMEM237.
    [Graphical view ]
    Pfami PF15383. TMEM237. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    2. "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] (ISOFORMS 2; 4 AND 5).
      Tissue: Trachea.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 2).
      Tissue: Brain and Ovary.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 272-408.
      Tissue: Fetal skin.
    6. Cited for: INVOLVEMENT IN JBTS14, SUBCELLULAR LOCATION, FUNCTION, VARIANT ALA-155, CHARACTERIZATION OF VARIANT ALA-155.

    Entry informationi

    Entry nameiTM237_HUMAN
    AccessioniPrimary (citable) accession number: Q96Q45
    Secondary accession number(s): B4E1R8
    , B4E2R8, E9PAR8, E9PBF8, E9PG24, E9PGX0, Q53TS9, Q53TT2, Q7Z3B6, Q8IZ18, Q8NBF8, Q96CY1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 20, 2005
    Last sequence update: February 22, 2012
    Last modified: October 1, 2014
    This is version 80 of the entry and version 2 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: 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