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Protein

Meckelin

Gene

Tmem67

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • branching morphogenesis of an epithelial tube Source: UniProtKB
  • cilium assembly Source: UniProtKB
  • cilium morphogenesis Source: UniProtKB
  • determination of left/right symmetry Source: MGI
  • ER-associated ubiquitin-dependent protein catabolic process Source: MGI
  • heart development Source: MGI
  • negative regulation of centrosome duplication Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:1923928. Tmem67.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei9 – 2921HelicalSequence analysisAdd
BLAST
Transmembranei523 – 54321HelicalSequence analysisAdd
BLAST
Transmembranei567 – 58721HelicalSequence analysisAdd
BLAST
Transmembranei606 – 62621HelicalSequence analysisAdd
BLAST
Transmembranei686 – 70621HelicalSequence analysisAdd
BLAST
Transmembranei731 – 75121HelicalSequence analysisAdd
BLAST
Transmembranei936 – 95621HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • centrosome Source: MGI
  • ciliary membrane Source: MGI
  • ciliary transition zone Source: MGI
  • cytoplasmic vesicle membrane Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • MKS complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 992992MeckelinPRO_0000225690Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi242 – 2421N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8BR76.
PaxDbiQ8BR76.
PRIDEiQ8BR76.

PTM databases

iPTMnetiQ8BR76.
PhosphoSiteiQ8BR76.

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). Interacts (via C-terminus) with FLNA (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000052644.

Structurei

3D structure databases

ProteinModelPortaliQ8BR76.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4611. Eukaryota.
ENOG410XQCG. LUCA.
HOGENOMiHOG000231576.
HOVERGENiHBG080334.
InParanoidiQ8BR76.
KOiK19348.

Family and domain databases

InterProiIPR009030. Growth_fac_rcpt_.
IPR019170. Meckelin.
[Graphical view]
PANTHERiPTHR21274:SF0. PTHR21274:SF0. 1 hit.
PfamiPF09773. Meckelin. 1 hit.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

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

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)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei136 – 16429VERNV…FTKAN → GKNNIYKIMVMNFCVYFIKD INLNGFVVV in isoform 2. 1 PublicationVSP_017417Add
BLAST
Alternative sequencei165 – 992828Missing in isoform 2. 1 PublicationVSP_017418Add
BLAST

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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000052644.

PTM databases

iPTMnetiQ8BR76.
PhosphoSiteiQ8BR76.

Proteomic databases

MaxQBiQ8BR76.
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

PROiQ8BR76.
SOURCEiSearch...

Gene expression databases

CleanExiMM_TMEM67.

Family and domain databases

InterProiIPR009030. Growth_fac_rcpt_.
IPR019170. Meckelin.
[Graphical view]
PANTHERiPTHR21274:SF0. PTHR21274:SF0. 1 hit.
PfamiPF09773. Meckelin. 1 hit.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiMKS3_MOUSE
AccessioniPrimary (citable) accession number: Q8BR76
Secondary accession number(s): Q78U07
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 7, 2006
Last modified: September 7, 2016
This is version 102 of the entry and version 2 of the sequence. [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

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 one 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.