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Protein

Transmembrane protein 231

Gene

TMEM231

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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).By similarity

GO - Biological processi

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 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:37234. TMEM231.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 20 (JBTS20)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:614970
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti209 – 2091D → N in JBTS20. 1 Publication
VAR_069044
Meckel syndrome 11 (MKS11)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:615397
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.
Orphaneti2318. Joubert syndrome with oculorenal defect.
564. Meckel syndrome.
PharmGKBiPA165450754.

Polymorphism and mutation databases

DMDMi74733611.

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

BgeeiQ9H6L2.
ExpressionAtlasiQ9H6L2. baseline and differential.
GenevisibleiQ9H6L2. HS.

Organism-specific databases

HPAiHPA042081.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
KRT31Q153233EBI-10307654,EBI-948001
KRT40Q6A1623EBI-10307654,EBI-10171697
NOTCH2NLQ7Z3S93EBI-10307654,EBI-945833

Protein-protein interaction databases

BioGridi311393. 28 interactions.
IntActiQ9H6L2. 3 interactions.
STRINGi9606.ENSP00000381184.

Structurei

3D structure databases

ProteinModelPortaliQ9H6L2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM231 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG322988.
GeneTreeiENSGT00390000015366.
HOGENOMiHOG000006919.
HOVERGENiHBG108626.
InParanoidiQ9H6L2.
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. AlignAdd to basket

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

        10         20         30         40         50
MALYELFSHP VERSYRAGLC SKAALFLLLA AALTYIPPLL VAFRSHGFWL
60 70 80 90 100
KRSSYEEQPT VRFQHQVLLV ALLGPESDGF LAWSTFPAFN RLQGDRLRVP
110 120 130 140 150
LVSTREEDRN QDGKTDMLHF KLELPLQSTE HVLGVQLILT FSYRLHRMAT
160 170 180 190 200
LVMQSMAFLQ SSFPVPGSQL YVNGDLRLQQ KQPLSCGGLD ARYNISVING
210 220 230 240 250
TSPFAYDYDL THIVAAYQER NVTTVLNDPN PIWLVGRAAD APFVINAIIR
260 270 280 290 300
YPVEVISYQP GFWEMVKFAW VQYVSILLIF LWVFERIKIF VFQNQVVTTI
310
PVTVTPRGDL CKEHLS
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:
EMBLi
GenBanki
DDBJi
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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9H6L2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi311393. 28 interactions.
IntActiQ9H6L2. 3 interactions.
STRINGi9606.ENSP00000381184.

PTM databases

PhosphoSiteiQ9H6L2.

Polymorphism and mutation databases

DMDMi74733611.

Proteomic databases

MaxQBiQ9H6L2.
PaxDbiQ9H6L2.
PRIDEiQ9H6L2.

Protocols and materials databases

DNASUi79583.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi79583.
GeneCardsiGC16M075572.
GeneReviewsiTMEM231.
HGNCiHGNC:37234. TMEM231.
HPAiHPA042081.
MIMi614949. gene.
614970. phenotype.
615397. phenotype.
neXtProtiNX_Q9H6L2.
Orphaneti2318. Joubert syndrome with oculorenal defect.
564. Meckel syndrome.
PharmGKBiPA165450754.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG322988.
GeneTreeiENSGT00390000015366.
HOGENOMiHOG000006919.
HOVERGENiHBG108626.
InParanoidiQ9H6L2.
OMAiDTRYNVS.
OrthoDBiEOG7FNC8F.
PhylomeDBiQ9H6L2.
TreeFamiTF312969.

Miscellaneous databases

GenomeRNAii79583.
NextBioi68576.
PROiQ9H6L2.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H6L2.
ExpressionAtlasiQ9H6L2. baseline and differential.
GenevisibleiQ9H6L2. HS.

Family and domain databases

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

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: June 24, 2015
This is version 95 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.