Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9H6L2 (TM231_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. 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 231
Gene names
Name:TMEM231
ORF Names:UNQ870/PRO1886
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length316 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

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.

Involvement in disease

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. Ref.6

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. Ref.7

Sequence similarities

Belongs to the TMEM231 family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H6L2-1)

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: Q9H6L2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: MALYELFSHP...PPLLVAFRSH → MSSSLTRSSA...NRLPTALFNS
Isoform 3 (identifier: Q9H6L2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-116: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 316316Transmembrane protein 231
PRO_0000317520

Regions

Transmembrane23 – 4321Helical; Potential
Transmembrane262 – 28221Helical; Potential

Amino acid modifications

Glycosylation1941N-linked (GlcNAc...) Potential
Glycosylation1991N-linked (GlcNAc...) Potential
Glycosylation2211N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 116116Missing in isoform 3.
VSP_042387
Alternative sequence1 – 4646MALYE…AFRSH → MSSSLTRSSAVTARGSAPKP RCSCCWPLRSRTSRRCWWPS GATVSLPRPLCHEAPRARSA RAGLPNRLPTALFNS in isoform 2.
VSP_042388
Natural variant61L → V. Ref.1 Ref.2
Corresponds to variant rs3743601 [ dbSNP | Ensembl ].
VAR_038543
Natural variant2091D → N in JBTS20. Ref.6
VAR_069044
Natural variant2721Q → P in MKS11. Ref.7
VAR_070456

Experimental info

Sequence conflict1251P → S in AAH63677. Ref.5
Isoform 2:
Sequence conflict21S → R in BAG53347. Ref.2

Sequences

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

Last modified March 1, 2001. Version 1.
Checksum: 11EE554E49B21B84

FASTA31636,059
        10         20         30         40         50         60 
MALYELFSHP VERSYRAGLC SKAALFLLLA AALTYIPPLL VAFRSHGFWL KRSSYEEQPT 

        70         80         90        100        110        120 
VRFQHQVLLV ALLGPESDGF LAWSTFPAFN RLQGDRLRVP LVSTREEDRN QDGKTDMLHF 

       130        140        150        160        170        180 
KLELPLQSTE HVLGVQLILT FSYRLHRMAT LVMQSMAFLQ SSFPVPGSQL YVNGDLRLQQ 

       190        200        210        220        230        240 
KQPLSCGGLD ARYNISVING TSPFAYDYDL THIVAAYQER NVTTVLNDPN PIWLVGRAAD 

       250        260        270        280        290        300 
APFVINAIIR YPVEVISYQP GFWEMVKFAW VQYVSILLIF LWVFERIKIF VFQNQVVTTI 

       310 
PVTVTPRGDL CKEHLS 

« Hide

Isoform 2 [UniParc].

Checksum: 6A402C1451575884
Show »

FASTA34539,117
Isoform 3 [UniParc].

Checksum: 1B4D9E4737BEECB1
Show »

FASTA20022,866

References

« Hide 'large scale' references
[1]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. 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] (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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Mutations in TMEM231 cause Joubert syndrome in French Canadians."
Srour M., Hamdan F.F., Schwartzentruber J.A., Patry L., Ospina L.H., Shevell M.I., Desilets V., Dobrzeniecka S., Mathonnet G., Lemyre E., Massicotte C., Labuda D., Amrom D., Andermann E., Sebire G., Maranda B., Consortium F.C., Rouleau G.A., Majewski J., Michaud J.L.
J. Med. Genet. 49:636-641(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT JBTS20 ASN-209.
[7]"Mutations in TMEM231 cause Meckel-Gruber syndrome."
Shaheen R., Ansari S., Mardawi E.A., Alshammari M.J., Alkuraya F.S.
J. Med. Genet. 50:160-162(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MKS11 PRO-272.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS45530.1. [Q9H6L2-1]
RefSeqNP_001070884.2. NM_001077416.2.
NP_001070886.1. NM_001077418.2. [Q9H6L2-1]
UniGeneHs.156784.

3D structure databases

ProteinModelPortalQ9H6L2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid311393. 1 interaction.
STRING9606.ENSP00000381184.

PTM databases

PhosphoSiteQ9H6L2.

Polymorphism databases

DMDM74733611.

Proteomic databases

MaxQBQ9H6L2.
PaxDbQ9H6L2.
PRIDEQ9H6L2.

Protocols and materials databases

DNASU79583.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258173; ENSP00000258173; ENSG00000205084. [Q9H6L2-1]
ENST00000568377; ENSP00000476267; ENSG00000205084. [Q9H6L2-2]
GeneID79583.
KEGGhsa:79583.
UCSCuc002fek.4. human. [Q9H6L2-2]
uc002fel.4. human. [Q9H6L2-1]

Organism-specific databases

CTD79583.
GeneCardsGC16M075572.
GeneReviewsTMEM231.
HGNCHGNC:37234. TMEM231.
HPAHPA042081.
MIM614949. gene.
614970. phenotype.
615397. phenotype.
neXtProtNX_Q9H6L2.
Orphanet475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
564. Meckel syndrome.
PharmGKBPA165450754.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG322988.
HOGENOMHOG000006919.
HOVERGENHBG108626.
OMADTRYNVS.
OrthoDBEOG7FNC8F.
PhylomeDBQ9H6L2.
TreeFamTF312969.

Gene expression databases

ArrayExpressQ9H6L2.
BgeeQ9H6L2.
GenevestigatorQ9H6L2.

Family and domain databases

InterProIPR019306. TMEM231.
[Graphical view]
PfamPF10149. TM231. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi79583.
NextBio68576.
PROQ9H6L2.
SOURCESearch...

Entry information

Entry nameTM231_HUMAN
AccessionPrimary (citable) accession number: Q9H6L2
Secondary accession number(s): A0JLU1 expand/collapse secondary AC list , A6NDZ6, B3KU85, G5E9E3, Q6P450, Q6UWW5
Entry history
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 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 16

Human chromosome 16: entries, gene names and cross-references to MIM