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Protein

Meckelin

Gene

Tmem67

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (sftpc).3 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Meckelin
Alternative name(s):
Meckel syndrome type 3 protein homolog
Transmembrane protein 67
Gene namesi
Name:Tmem67
Synonyms:Mks3
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:1923928 Tmem67

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
Transmembranei523 – 543HelicalSequence analysisAdd BLAST21
Transmembranei567 – 587HelicalSequence analysisAdd BLAST21
Transmembranei606 – 626HelicalSequence analysisAdd BLAST21
Transmembranei686 – 706HelicalSequence analysisAdd BLAST21
Transmembranei731 – 751HelicalSequence analysisAdd BLAST21
Transmembranei936 – 956HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

A spontaneous deletion of TMEM67 cause the bilateral polycystic kidneys (bpck) phenotype, a disease mimicking human Meckel-Gruber syndrome 3. Homozygous bpck/bpck mice typically manifest bilateral nephropathy with swollen abdomens resulting from grossly enlarged polycystic kidneys and die by 3 week of age. Some mice also develop hydrocephalus, usually detectable within a few days of birth (PubMed:19211713). Additionally, bpck/bpck mice exhibit retinal degeneration and tissue disorganization in the eye, and cochlear defects (PubMed:23393159).2 Publications

Disruption phenotypei

Mice survive to birth with no overt morphological abnormalities. However, these mice died soon after birth.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000022569036 – 992MeckelinSequence analysisAdd BLAST957

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi242N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8BR76
PRIDEiQ8BR76

PTM databases

iPTMnetiQ8BR76
PhosphoSitePlusiQ8BR76

Expressioni

Gene expression databases

CleanExiMM_TMEM67

Interactioni

Subunit structurei

Interacts with DNAJB9, DNAJC10 and mutated SFTPC (By similarity). Interacts with SYNE2 during the early establishment of cell polarity (By similarity). Part of the tectonic-like complex (also named B9 complex) (PubMed:21725307). Interacts (via C-terminus) with FLNA (By similarity).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

CORUMiQ8BR76
STRINGi10090.ENSMUSP00000052644

Structurei

3D structure databases

ProteinModelPortaliQ8BR76
SMRiQ8BR76
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4611 Eukaryota
ENOG410XQCG LUCA
HOGENOMiHOG000231576
HOVERGENiHBG080334
InParanoidiQ8BR76
KOiK19348

Family and domain databases

InterProiView protein in InterPro
IPR009030 Growth_fac_rcpt_cys_sf
IPR019170 Meckelin
PANTHERiPTHR21274 PTHR21274, 1 hit
PfamiView protein in Pfam
PF09773 Meckelin, 1 hit
SUPFAMiSSF57184 SSF57184, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8BR76-1) [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
MVTRTRPVAA MAVRSRSSSR TGTAYLLLVL CEVSWAQIFS FPFRRPETCD
60 70 80 90 100
FNQYFDISAL SCAPCGANQR RDALGTSCVC LPGYHMISNN GGPSIICKKC
110 120 130 140 150
PENMKGVTKD GWDCISCPSG LTAEGKCHCP TGHILVERNV SGSLLAQATC
160 170 180 190 200
ELCDESENSF TKANALGTRC VRCEPTFVNT SRSCSCSEPH TLTGGLCFSN
210 220 230 240 250
TGNFHQRVIS TARYGELGMS LNSEWFAKYL QATAAACWTH ANLTSCQALG
260 270 280 290 300
NMCVMNMNSY DSTTLDACRL FHYIFESTAG LISVHSVPFW RQNLPWLFYG
310 320 330 340 350
DQPGLAPQVL STTPLPTNFS FKGQNQLKFV AASYDIRGNF IKWQPLEGGV
360 370 380 390 400
LQLCPDTERR LDAAYAFGTT YQQNCEISLS KLLVDFSSPV FYDVYLEYTD
410 420 430 440 450
EEQHRYLWPI PVLNLNLQHN KLFVNQDSSS SKWLLTRRIF LVDAVSGREN
460 470 480 490 500
DLGNQPRVIR VATQISLSIR LVPNTKNGNI YTPLLTIAYS DIDIKNAHSQ
510 520 530 540 550
SAKISFSVKY EMNQGDASVH TDIALGVLGG LAVLSSLLKT AGWKRRVGSP
560 570 580 590 600
MIDLQTVMKF LLYYAGDLAN VFFIITVGTG LYWLIFFKAQ KSVSVLLPMP
610 620 630 640 650
VQEERFVTYV GCAFAMKALQ FLHKFISQIS IDIFFIDWER PKGKVLKAVE
660 670 680 690 700
GEGGVRSATV PVSIWRTYFV ANEWNEIQTV RKINPLFQVL TTLFFLEVVG
710 720 730 740 750
FKNLALMDSS SSLSRNPSDY TAPYSRILRY AVATAIWLVI GIIQVVFFAA
760 770 780 790 800
FYERFIEDKI RQFVDLCSMS NVSVFLLSHR CFGYYIHGRS VHGHADTNME
810 820 830 840 850
EMNMNLKREA ENLCSQRGLV PNTDGQTFQI AVSSQMRQHY DRIHETLTRR
860 870 880 890 900
NGPARLLSSS GSTFEQSIKA YHAMNKFLGS FIDHVHKEMD YFIKDKLLLE
910 920 930 940 950
RILGMEFMEP MEKSIFYNDE GHSFSSVLYY GNEATLLIFD LLFFCVVDLA
960 970 980 990
CQDFVLASFL TYLQQEIFRF IRNTVGQKNL ATKTLVDERF LI
Length:992
Mass (Da):111,810
Last modified:March 7, 2006 - v2
Checksum:i9D97AFEB54B1786F
GO
Isoform 2 (identifier: Q8BR76-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     136-164: VERNVSGSLLAQATCELCDESENSFTKAN → GKNNIYKIMVMNFCVYFIKDINLNGFVVV
     165-992: Missing.

Note: No experimental confirmation available.
Show »
Length:164
Mass (Da):18,021
Checksum:i41903CB2D7A26736
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9QNI1E9QNI1_MOUSE
Meckelin
Tmem67
995Annotation score:
A2AJP5A2AJP5_MOUSE
Meckelin
Tmem67
1,061Annotation score:
D6RGQ2D6RGQ2_MOUSE
Meckelin
Tmem67
207Annotation score:

Sequence cautioni

The sequence BAC31378 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC32362 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017417136 – 164VERNV…FTKAN → GKNNIYKIMVMNFCVYFIKD INLNGFVVV in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_017418165 – 992Missing in isoform 2. 1 PublicationAdd BLAST828

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK042835 mRNA Translation: BAC31378.1 Different initiation.
AK045429 mRNA Translation: BAC32362.1 Different initiation.
RefSeqiNP_808529.2, NM_177861.4
UniGeneiMm.475125

Genome annotation databases

GeneIDi329795
KEGGimmu:329795
UCSCiuc008saj.1 mouse [Q8BR76-2]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK042835 mRNA Translation: BAC31378.1 Different initiation.
AK045429 mRNA Translation: BAC32362.1 Different initiation.
RefSeqiNP_808529.2, NM_177861.4
UniGeneiMm.475125

3D structure databases

ProteinModelPortaliQ8BR76
SMRiQ8BR76
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

CORUMiQ8BR76
STRINGi10090.ENSMUSP00000052644

PTM databases

iPTMnetiQ8BR76
PhosphoSitePlusiQ8BR76

Proteomic databases

PaxDbiQ8BR76
PRIDEiQ8BR76

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi329795
KEGGimmu:329795
UCSCiuc008saj.1 mouse [Q8BR76-2]

Organism-specific databases

CTDi91147
MGIiMGI:1923928 Tmem67

Phylogenomic databases

eggNOGiKOG4611 Eukaryota
ENOG410XQCG LUCA
HOGENOMiHOG000231576
HOVERGENiHBG080334
InParanoidiQ8BR76
KOiK19348

Miscellaneous databases

PROiPR:Q8BR76
SOURCEiSearch...

Gene expression databases

CleanExiMM_TMEM67

Family and domain databases

InterProiView protein in InterPro
IPR009030 Growth_fac_rcpt_cys_sf
IPR019170 Meckelin
PANTHERiPTHR21274 PTHR21274, 1 hit
PfamiView protein in Pfam
PF09773 Meckelin, 1 hit
SUPFAMiSSF57184 SSF57184, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMKS3_MOUSE
AccessioniPrimary (citable) accession number: Q8BR76
Secondary accession number(s): Q78U07
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 7, 2006
Last modified: June 20, 2018
This is version 116 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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