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Protein

Transmembrane protein 231

Gene

TMEM231

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processCilium 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
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000205084.10
HGNCiHGNC:37234 TMEM231
MIMi614949 gene
neXtProtiNX_Q9H6L2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Transmembranei262 – 282HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 20 (JBTS20)2 Publications
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_069044209D → N in JBTS20. 2 PublicationsCorresponds to variant dbSNP:rs200799769Ensembl.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_070456272Q → P in MKS11. 1 PublicationCorresponds to variant dbSNP:rs397514754Ensembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

DisGeNETi79583
GeneReviewsiTMEM231
MalaCardsiTMEM231
MIMi614970 phenotype
615397 phenotype
OpenTargetsiENSG00000205084
Orphaneti2318 Joubert syndrome with oculorenal defect
564 Meckel syndrome
PharmGKBiPA165450754

Polymorphism and mutation databases

DMDMi74733611

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003175201 – 316Transmembrane protein 231Add BLAST316

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi194N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi199N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi221N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9H6L2
PeptideAtlasiQ9H6L2
PRIDEiQ9H6L2

PTM databases

iPTMnetiQ9H6L2
PhosphoSitePlusiQ9H6L2
SwissPalmiQ9H6L2

Expressioni

Gene expression databases

BgeeiENSG00000205084
ExpressionAtlasiQ9H6L2 baseline and differential
GenevisibleiQ9H6L2 HS

Organism-specific databases

HPAiHPA042081

Interactioni

Subunit structurei

Part of the tectonic-like complex (also named B9 complex). Interacts with TMEM107.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi311393, 39 interactors
DIPiDIP-61994N
IntActiQ9H6L2, 7 interactors

Structurei

3D structure databases

ProteinModelPortaliQ9H6L2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM231 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00390000015366
HOGENOMiHOG000006919
HOVERGENiHBG108626
InParanoidiQ9H6L2
KOiK19362
OMAiQKQPLSC
OrthoDBiEOG091G0VDE
PhylomeDBiQ9H6L2
TreeFamiTF312969

Family and domain databases

InterProiView protein in InterPro
IPR019306 TMEM231
PANTHERiPTHR14605 PTHR14605, 1 hit
PfamiView protein in Pfam
PF10149 TM231, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti125P → S in AAH63677 (PubMed:15489334).Curated1
Isoform 2 (identifier: Q9H6L2-2)
Sequence conflicti2S → R in BAG53347 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0385436L → V2 PublicationsCorresponds to variant dbSNP:rs3743601EnsemblClinVar.1
Natural variantiVAR_069044209D → N in JBTS20. 2 PublicationsCorresponds to variant dbSNP:rs200799769Ensembl.1
Natural variantiVAR_070456272Q → P in MKS11. 1 PublicationCorresponds to variant dbSNP:rs397514754Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0423871 – 116Missing in isoform 3. 1 PublicationAdd BLAST116
Alternative sequenceiVSP_0423881 – 46MALYE…AFRSH → MSSSLTRSSAVTARGSAPKP RCSCCWPLRSRTSRRCWWPS GATVSLPRPLCHEAPRARSA RAGLPNRLPTALFNS in isoform 2. 1 PublicationAdd BLAST46

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
UCSCiuc002fem.5 human [Q9H6L2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTM231_HUMAN
AccessioniPrimary (citable) accession number: Q9H6L2
Secondary accession number(s): A0JLU1
, A6NDZ6, B3KU85, G5E9E3, Q6P450, Q6UWW5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: March 1, 2001
Last modified: May 23, 2018
This is version 124 of the entry and version 1 of the sequence. See 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

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