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Q9H6L2

- TM231_HUMAN

UniProt

Q9H6L2 - TM231_HUMAN

Protein

Transmembrane protein 231

Gene

TMEM231

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling By similarity.By similarity

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. smoothened signaling pathway Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane protein 231
    Gene namesi
    Name:TMEM231
    ORF Names:UNQ870/PRO1886
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:37234. TMEM231.

    Subcellular locationi

    Cell projectioncilium membrane By similarity; Multi-pass membrane protein By similarity
    Note: Localizes to the transition zone of primary cilia; SEPT2 is required for localization to the transition zone.By similarity

    GO - Cellular componenti

    1. ciliary membrane Source: UniProtKB
    2. ciliary transition zone Source: UniProtKB
    3. integral component of membrane Source: UniProtKB-KW
    4. TCTN-B9D complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cilium, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Joubert syndrome 20 (JBTS20) [MIM:614970]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. 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 retinal dystrophy and renal disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti209 – 2091D → N in JBTS20. 1 Publication
    VAR_069044
    Meckel syndrome 11 (MKS11) [MIM:615397]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, 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 varianti272 – 2721Q → P in MKS11. 1 Publication
    VAR_070456

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

    Organism-specific databases

    MIMi614970. phenotype.
    615397. phenotype.
    Orphaneti475. Joubert syndrome.
    220493. Joubert syndrome with ocular defect.
    564. Meckel syndrome.
    PharmGKBiPA165450754.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 316316Transmembrane protein 231PRO_0000317520Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi194 – 1941N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi199 – 1991N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi221 – 2211N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9H6L2.
    PaxDbiQ9H6L2.
    PRIDEiQ9H6L2.

    PTM databases

    PhosphoSiteiQ9H6L2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H6L2.
    BgeeiQ9H6L2.
    GenevestigatoriQ9H6L2.

    Organism-specific databases

    HPAiHPA042081.

    Interactioni

    Subunit structurei

    Part of the tectonic-like complex (also named B9 complex).By similarity

    Protein-protein interaction databases

    BioGridi311393. 1 interaction.
    STRINGi9606.ENSP00000381184.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H6L2.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei23 – 4321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei262 – 28221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TMEM231 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG322988.
    HOGENOMiHOG000006919.
    HOVERGENiHBG108626.
    OMAiDTRYNVS.
    OrthoDBiEOG7FNC8F.
    PhylomeDBiQ9H6L2.
    TreeFamiTF312969.

    Family and domain databases

    InterProiIPR019306. TMEM231.
    [Graphical view]
    PfamiPF10149. TM231. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H6L2-1) [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

    MALYELFSHP VERSYRAGLC SKAALFLLLA AALTYIPPLL VAFRSHGFWL    50
    KRSSYEEQPT VRFQHQVLLV ALLGPESDGF LAWSTFPAFN RLQGDRLRVP 100
    LVSTREEDRN QDGKTDMLHF KLELPLQSTE HVLGVQLILT FSYRLHRMAT 150
    LVMQSMAFLQ SSFPVPGSQL YVNGDLRLQQ KQPLSCGGLD ARYNISVING 200
    TSPFAYDYDL THIVAAYQER NVTTVLNDPN PIWLVGRAAD APFVINAIIR 250
    YPVEVISYQP GFWEMVKFAW VQYVSILLIF LWVFERIKIF VFQNQVVTTI 300
    PVTVTPRGDL CKEHLS 316
    Length:316
    Mass (Da):36,059
    Last modified:March 1, 2001 - v1
    Checksum:i11EE554E49B21B84
    GO
    Isoform 2 (identifier: Q9H6L2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-46: MALYELFSHP...PPLLVAFRSH → MSSSLTRSSA...NRLPTALFNS

    Show »
    Length:345
    Mass (Da):39,117
    Checksum:i6A402C1451575884
    GO
    Isoform 3 (identifier: Q9H6L2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-116: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:200
    Mass (Da):22,866
    Checksum:i1B4D9E4737BEECB1
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti125 – 1251P → S in AAH63677. (PubMed:15489334)Curated
    Isoform 2 (identifier: Q9H6L2-2)
    Sequence conflicti2 – 21S → R in BAG53347. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61L → V.2 Publications
    Corresponds to variant rs3743601 [ dbSNP | Ensembl ].
    VAR_038543
    Natural varianti209 – 2091D → N in JBTS20. 1 Publication
    VAR_069044
    Natural varianti272 – 2721Q → P in MKS11. 1 Publication
    VAR_070456

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 116116Missing in isoform 3. 1 PublicationVSP_042387Add
    BLAST
    Alternative sequencei1 – 4646MALYE…AFRSH → MSSSLTRSSAVTARGSAPKP RCSCCWPLRSRTSRRCWWPS GATVSLPRPLCHEAPRARSA RAGLPNRLPTALFNS in isoform 2. 1 PublicationVSP_042388Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358612 mRNA. Translation: AAQ88975.1.
    AK025820 mRNA. Translation: BAB15244.1.
    AK096650 mRNA. Translation: BAG53347.1.
    AK290483 mRNA. Translation: BAF83172.1.
    AC009163 Genomic DNA. No translation available.
    AC025287 Genomic DNA. No translation available.
    CH471114 Genomic DNA. Translation: EAW95632.1.
    CH471114 Genomic DNA. Translation: EAW95633.1.
    BC010609 mRNA. Translation: AAH10609.1.
    BC016401 mRNA. Translation: AAH16401.1.
    BC063677 mRNA. Translation: AAH63677.1.
    CCDSiCCDS45530.1. [Q9H6L2-1]
    RefSeqiNP_001070884.2. NM_001077416.2.
    NP_001070886.1. NM_001077418.2. [Q9H6L2-1]
    UniGeneiHs.156784.

    Genome annotation databases

    EnsembliENST00000258173; ENSP00000258173; ENSG00000205084. [Q9H6L2-1]
    ENST00000568377; ENSP00000476267; ENSG00000205084. [Q9H6L2-2]
    GeneIDi79583.
    KEGGihsa:79583.
    UCSCiuc002fek.4. human. [Q9H6L2-2]
    uc002fel.4. human. [Q9H6L2-1]

    Polymorphism databases

    DMDMi74733611.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358612 mRNA. Translation: AAQ88975.1 .
    AK025820 mRNA. Translation: BAB15244.1 .
    AK096650 mRNA. Translation: BAG53347.1 .
    AK290483 mRNA. Translation: BAF83172.1 .
    AC009163 Genomic DNA. No translation available.
    AC025287 Genomic DNA. No translation available.
    CH471114 Genomic DNA. Translation: EAW95632.1 .
    CH471114 Genomic DNA. Translation: EAW95633.1 .
    BC010609 mRNA. Translation: AAH10609.1 .
    BC016401 mRNA. Translation: AAH16401.1 .
    BC063677 mRNA. Translation: AAH63677.1 .
    CCDSi CCDS45530.1. [Q9H6L2-1 ]
    RefSeqi NP_001070884.2. NM_001077416.2.
    NP_001070886.1. NM_001077418.2. [Q9H6L2-1 ]
    UniGenei Hs.156784.

    3D structure databases

    ProteinModelPortali Q9H6L2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 311393. 1 interaction.
    STRINGi 9606.ENSP00000381184.

    PTM databases

    PhosphoSitei Q9H6L2.

    Polymorphism databases

    DMDMi 74733611.

    Proteomic databases

    MaxQBi Q9H6L2.
    PaxDbi Q9H6L2.
    PRIDEi Q9H6L2.

    Protocols and materials databases

    DNASUi 79583.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000258173 ; ENSP00000258173 ; ENSG00000205084 . [Q9H6L2-1 ]
    ENST00000568377 ; ENSP00000476267 ; ENSG00000205084 . [Q9H6L2-2 ]
    GeneIDi 79583.
    KEGGi hsa:79583.
    UCSCi uc002fek.4. human. [Q9H6L2-2 ]
    uc002fel.4. human. [Q9H6L2-1 ]

    Organism-specific databases

    CTDi 79583.
    GeneCardsi GC16M075572.
    GeneReviewsi TMEM231.
    HGNCi HGNC:37234. TMEM231.
    HPAi HPA042081.
    MIMi 614949. gene.
    614970. phenotype.
    615397. phenotype.
    neXtProti NX_Q9H6L2.
    Orphaneti 475. Joubert syndrome.
    220493. Joubert syndrome with ocular defect.
    564. Meckel syndrome.
    PharmGKBi PA165450754.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG322988.
    HOGENOMi HOG000006919.
    HOVERGENi HBG108626.
    OMAi DTRYNVS.
    OrthoDBi EOG7FNC8F.
    PhylomeDBi Q9H6L2.
    TreeFami TF312969.

    Miscellaneous databases

    GenomeRNAii 79583.
    NextBioi 68576.
    PROi Q9H6L2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H6L2.
    Bgeei Q9H6L2.
    Genevestigatori Q9H6L2.

    Family and domain databases

    InterProi IPR019306. TMEM231.
    [Graphical view ]
    Pfami PF10149. TM231. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-6.
    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 1 AND 2), VARIANT VAL-6.
      Tissue: Brain.
    3. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORMS 1 AND 3).
      Tissue: Brain, Lymph and Ovary.
    6. Cited for: VARIANT JBTS20 ASN-209.
    7. Cited for: VARIANT MKS11 PRO-272.

    Entry informationi

    Entry nameiTM231_HUMAN
    AccessioniPrimary (citable) accession number: Q9H6L2
    Secondary accession number(s): A0JLU1
    , A6NDZ6, B3KU85, G5E9E3, Q6P450, Q6UWW5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 90 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: 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