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Q9H6L2

- TM231_HUMAN

UniProt

Q9H6L2 - TM231_HUMAN

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Protein

Transmembrane protein 231

Gene
TMEM231, UNQ870/PRO1886
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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.

GO - Biological processi

  1. cilium assembly Source: UniProtKB
  2. smoothened signaling pathway Source: UniProtKB
Complete GO annotation...

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; 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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei23 – 4321Helical; Reviewed predictionAdd
BLAST
Transmembranei262 – 28221Helical; Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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...) Reviewed prediction
Glycosylationi199 – 1991N-linked (GlcNAc...) Reviewed prediction
Glycosylationi221 – 2211N-linked (GlcNAc...) Reviewed prediction

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM231 family.

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

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. VSP_042387Add
BLAST
Alternative sequencei1 – 4646MALYE…AFRSH → MSSSLTRSSAVTARGSAPKP RCSCCWPLRSRTSRRCWWPS GATVSLPRPLCHEAPRARSA RAGLPNRLPTALFNS in isoform 2. VSP_042388Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti125 – 1251P → S in AAH63677. 1 Publication
Isoform 2 (identifier: Q9H6L2-2)
Sequence conflicti2 – 21S → R in BAG53347. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 89 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

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