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Protein

Meckelin

Gene

TMEM67

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).By similarity4 Publications

GO - Molecular functioni

  • filamin binding Source: UniProtKB
  • unfolded protein binding Source: UniProtKB

GO - Biological processi

  • cilium assembly Source: UniProtKB
  • ER-associated ubiquitin-dependent protein catabolic process Source: UniProtKB
  • negative regulation of centrosome duplication Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Protein family/group databases

TCDBi9.B.77.1.1. the meckel syndrome protein (meckelin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Meckelin
Alternative name(s):
Meckel syndrome type 3 protein
Transmembrane protein 67
Gene namesi
Name:TMEM67
Synonyms:MKS3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:28396. TMEM67.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei9 – 29HelicalSequence analysisAdd BLAST21
Transmembranei526 – 546HelicalSequence analysisAdd BLAST21
Transmembranei570 – 590HelicalSequence analysisAdd BLAST21
Transmembranei609 – 629HelicalSequence analysisAdd BLAST21
Transmembranei689 – 709HelicalSequence analysisAdd BLAST21
Transmembranei734 – 754HelicalSequence analysisAdd BLAST21
Transmembranei939 – 959HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • ciliary membrane Source: UniProtKB
  • ciliary transition zone Source: WormBase
  • 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

Involvement in diseasei

TMEM67 mutations result in ciliary dysfunction leading to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and nephronophtisis among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome.

Meckel syndrome 3 (MKS3)3 Publications
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:607361
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06231054Y → C in MKS3; unknown pathological significance. 1 PublicationCorresponds to variant rs386834188dbSNPEnsembl.1
Natural variantiVAR_062312245S → F in MKS3; unknown pathological significance. 1 PublicationCorresponds to variant rs386834206dbSNPEnsembl.1
Natural variantiVAR_062313252M → T in MKS3 and COACHS. 3 PublicationsCorresponds to variant rs202149403dbSNPEnsembl.1
Natural variantiVAR_062315296W → C in MKS3; unknown pathological significance. Corresponds to variant rs386834208dbSNPEnsembl.1
Natural variantiVAR_063790349L → S in COACHS and MKS3. 2 PublicationsCorresponds to variant rs386834180dbSNPEnsembl.1
Natural variantiVAR_025474376Q → P in MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane. 2 PublicationsCorresponds to variant rs137853106dbSNPEnsembl.1
Natural variantiVAR_062318440R → Q in MKS3 and COACHS. 2 PublicationsCorresponds to variant rs386834182dbSNPEnsembl.1
Natural variantiVAR_076874441R → L in MKS3. 1 Publication1
Natural variantiVAR_031987513Y → C in JBTS6, MKS3 and COACHS. 3 PublicationsCorresponds to variant rs137853107dbSNPEnsembl.1
Natural variantiVAR_062319615C → R in MKS3, COACHS and NPHP11. 3 PublicationsCorresponds to variant rs201893408dbSNPEnsembl.1
Natural variantiVAR_076877668W → R in MKS3. 1 Publication1
Natural variantiVAR_076879786G → E in MKS3. 1 Publication1
Natural variantiVAR_076880843Y → C in MKS3. 1 Publication1
Natural variantiVAR_062320966L → P in MKS3. 1 PublicationCorresponds to variant rs386834199dbSNPEnsembl.1
Joubert syndrome 6 (JBTS6)4 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:610688
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063791358P → L in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 2 Publications1
Natural variantiVAR_031987513Y → C in JBTS6, MKS3 and COACHS. 3 PublicationsCorresponds to variant rs137853107dbSNPEnsembl.1
Natural variantiVAR_031988545G → E in JBTS6. 1 PublicationCorresponds to variant rs267607114dbSNPEnsembl.1
Natural variantiVAR_075699711D → A in JBTS6. 1 PublicationCorresponds to variant rs781383498dbSNPEnsembl.1
Natural variantiVAR_063801833I → T in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 4 PublicationsCorresponds to variant rs267607119dbSNPEnsembl.1
Bardet-Biedl syndrome (BBS)1 Publication
The gene represented in this entry may act as a disease modifier. TMEM67 variations may influence the expression of Bardet-Biedl syndrome in patients who have causative mutations in other genes. Heterozygosity for a complex mutation in the TMEM67 gene coding for a protein with 2 in cis changes, and homozygosity for a truncating mutation of the CEP290 gene has been found in a patient with Bardet-Biedl syndrome 14.
Disease descriptionA syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
See also OMIM:209900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062316320S → C Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene. 1 PublicationCorresponds to variant rs111619594dbSNPEnsembl.1
COACH syndrome (COACHS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable.
See also OMIM:216360
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06378599K → N in COACHS. 1 Publication1
Natural variantiVAR_063786130P → R in COACHS. 2 Publications1
Natural variantiVAR_063787172R → Q in COACHS. 1 PublicationCorresponds to variant rs750950408dbSNPEnsembl.1
Natural variantiVAR_063788242N → T in COACHS. 1 Publication1
Natural variantiVAR_062313252M → T in MKS3 and COACHS. 3 PublicationsCorresponds to variant rs202149403dbSNPEnsembl.1
Natural variantiVAR_063789257M → V in COACHS. 1 Publication1
Natural variantiVAR_063790349L → S in COACHS and MKS3. 2 PublicationsCorresponds to variant rs386834180dbSNPEnsembl.1
Natural variantiVAR_063791358P → L in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 2 Publications1
Natural variantiVAR_063792372T → K in COACHS. 2 Publications1
Natural variantiVAR_063793376Q → E in COACHS. 1 Publication1
Natural variantiVAR_062318440R → Q in MKS3 and COACHS. 2 PublicationsCorresponds to variant rs386834182dbSNPEnsembl.1
Natural variantiVAR_063794441R → C in COACHS. 1 PublicationCorresponds to variant rs752362727dbSNPEnsembl.1
Natural variantiVAR_063795485P → S in COACHS. 1 Publication1
Natural variantiVAR_031987513Y → C in JBTS6, MKS3 and COACHS. 3 PublicationsCorresponds to variant rs137853107dbSNPEnsembl.1
Natural variantiVAR_063796590F → S in COACHS. 1 PublicationCorresponds to variant rs267607115dbSNPEnsembl.1
Natural variantiVAR_062319615C → R in MKS3, COACHS and NPHP11. 3 PublicationsCorresponds to variant rs201893408dbSNPEnsembl.1
Natural variantiVAR_063797637F → L in COACHS. 1 Publication1
Natural variantiVAR_063798728S → G in COACHS. 1 Publication1
Natural variantiVAR_063799782H → R in COACHS. 1 PublicationCorresponds to variant rs777137476dbSNPEnsembl.1
Natural variantiVAR_063800820R → S in COACHS. 1 Publication1
Natural variantiVAR_063801833I → T in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 4 PublicationsCorresponds to variant rs267607119dbSNPEnsembl.1
Natural variantiVAR_063802841Q → P in COACHS. 1 Publication1
Natural variantiVAR_063803942F → C in COACHS. 1 Publication1
Nephronophthisis 11 (NPHP11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the association of nephronophthisis with hepatic fibrosis. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical features are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms, especially ocular lesions, are frequent.
See also OMIM:613550
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064185290W → L in NPHP11. 1 PublicationCorresponds to variant rs267607117dbSNPEnsembl.1
Natural variantiVAR_062319615C → R in MKS3, COACHS and NPHP11. 3 PublicationsCorresponds to variant rs201893408dbSNPEnsembl.1
Natural variantiVAR_064186821G → R in NPHP11. 1 PublicationCorresponds to variant rs267607116dbSNPEnsembl.1
Natural variantiVAR_064187821G → S in NPHP11. 1 PublicationCorresponds to variant rs267607116dbSNPEnsembl.1

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome, Mental retardation, Nephronophthisis, Obesity

Organism-specific databases

DisGeNETi91147.
MalaCardsiTMEM67.
MIMi209900. phenotype.
216360. phenotype.
607361. phenotype.
610688. phenotype.
613550. phenotype.
OpenTargetsiENSG00000164953.
Orphaneti475. Joubert syndrome.
1454. Joubert syndrome with hepatic defect.
564. Meckel syndrome.
84081. Senior-Boichis syndrome.
PharmGKBiPA142670780.

Polymorphism and mutation databases

BioMutaiTMEM67.
DMDMi317373389.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002256891 – 995MeckelinAdd BLAST995

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ5HYA8.
MaxQBiQ5HYA8.
PaxDbiQ5HYA8.
PeptideAtlasiQ5HYA8.
PRIDEiQ5HYA8.

PTM databases

iPTMnetiQ5HYA8.
PhosphoSitePlusiQ5HYA8.

Expressioni

Tissue specificityi

Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.2 Publications

Gene expression databases

BgeeiENSG00000164953.
CleanExiHS_TMEM67.
ExpressionAtlasiQ5HYA8. baseline and differential.
GenevisibleiQ5HYA8. HS.

Organism-specific databases

HPAiHPA039940.

Interactioni

Subunit structurei

Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with DNAJB9, DNAJC10 and mutated SFTPC. Interacts with SYNE2 during the early establishment of cell polarity. Interacts (via C-terminus) with FLNA.By similarity4 Publications

GO - Molecular functioni

  • filamin binding Source: UniProtKB
  • unfolded protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi124799. 73 interactors.
IntActiQ5HYA8. 47 interactors.
STRINGi9606.ENSP00000389998.

Structurei

3D structure databases

ProteinModelPortaliQ5HYA8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4611. Eukaryota.
ENOG410XQCG. LUCA.
GeneTreeiENSGT00390000010606.
HOGENOMiHOG000231576.
HOVERGENiHBG080334.
InParanoidiQ5HYA8.
KOiK19348.
OMAiCEIPISK.
OrthoDBiEOG091G0OUO.
PhylomeDBiQ5HYA8.
TreeFamiTF317053.

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: Q5HYA8-1) [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
MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD
60 70 80 90 100
NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC
110 120 130 140 150
PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC
160 170 180 190 200
ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS
210 220 230 240 250
TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG
260 270 280 290 300
NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG
310 320 330 340 350
DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE
360 370 380 390 400
GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE
410 420 430 440 450
YTDENQHQYI LAVPVLNLNL QHNKIFVNQD SNSGKWLLTR RIFLVDAVSG
460 470 480 490 500
RENDLGTQPR VIRVATQISL SVHLVPNTIN GNIYPPLITI AYSDIDIKDA
510 520 530 540 550
NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL LKTAGWKRRI
560 570 580 590 600
GSPMIDLQTV VKFLVYYAGD LANVFFIITV GTGLYWLIFF KAQKSVSVLL
610 620 630 640 650
PMPIQEERFV TYVGCAFALK ALQFLHKLIS QITIDVFFID WERPKGKVLK
660 670 680 690 700
AVEGEGGVRS ATVPVSIWRT YFVANEWNEI QTVRKINSLF QVLTVLFFLE
710 720 730 740 750
VVGFKNLALM DSSSSLSRNP PSYIAPYSCI LRYAVSAALW LAIGIIQVVF
760 770 780 790 800
FAVFYERFIE DKIRQFVDLC SMSNISVFLL SHKCFGYYIH GRSVHGHADT
810 820 830 840 850
NMEEMNMNLK REAENLCSQR GLVPNTDGQT FEIAISNQMR QHYDRIHETL
860 870 880 890 900
IRKNGPARLL SSSASTFEQS IKAYHMMNKF LGSFIDHVHK EMDYFIKDKL
910 920 930 940 950
LLERILGMEF MEPMEKSIFY NDEGYSFSSV LYYGNEATLL IFDLLFFCVV
960 970 980 990
DLACQNFILA SFLTYLQQEI FRYIRNTVGQ KNLASKTLVD QRFLI
Length:995
Mass (Da):111,745
Last modified:January 11, 2011 - v2
Checksum:i48B715BDD610C495
GO
Isoform 2 (identifier: Q5HYA8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-136: MATRGGAGVA...CHCPIGHILV → MSLSHWPYFR...GMYNIIEEIL

Note: No experimental confirmation available.Curated
Show »
Length:914
Mass (Da):103,590
Checksum:iB7E458801DEA5E2C
GO

Sequence cautioni

The sequence AAH32835 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG52959 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti251N → S in BAG52507 (PubMed:14702039).Curated1
Sequence conflicti325N → D in BAG52507 (PubMed:14702039).Curated1
Isoform 2 (identifier: Q5HYA8-3)
Sequence conflicti18Q → R in BAG52507 (PubMed:14702039).Curated1
Sequence conflicti24Q → R in BAG52507 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06231054Y → C in MKS3; unknown pathological significance. 1 PublicationCorresponds to variant rs386834188dbSNPEnsembl.1
Natural variantiVAR_06378382P → R Found in a patient with Joubert syndrome related disorder without clinically apparent liver disease. 1 Publication1
Natural variantiVAR_06378482P → S Found in a patient with Joubert syndrome related disorder without clinically apparent liver disease. 1 PublicationCorresponds to variant rs762543032dbSNPEnsembl.1
Natural variantiVAR_07687190N → K Probable disease-associated disorder found in Joubert syndrome-related disorder. 1 Publication1
Natural variantiVAR_06378599K → N in COACHS. 1 Publication1
Natural variantiVAR_076872124E → K Probable disease-associated disorder found in Joubert syndrome-related disorder. 1 Publication1
Natural variantiVAR_063786130P → R in COACHS. 2 Publications1
Natural variantiVAR_063787172R → Q in COACHS. 1 PublicationCorresponds to variant rs750950408dbSNPEnsembl.1
Natural variantiVAR_062311218G → A.1 PublicationCorresponds to variant rs202036490dbSNPEnsembl.1
Natural variantiVAR_063788242N → T in COACHS. 1 Publication1
Natural variantiVAR_062312245S → F in MKS3; unknown pathological significance. 1 PublicationCorresponds to variant rs386834206dbSNPEnsembl.1
Natural variantiVAR_062313252M → T in MKS3 and COACHS. 3 PublicationsCorresponds to variant rs202149403dbSNPEnsembl.1
Natural variantiVAR_063789257M → V in COACHS. 1 Publication1
Natural variantiVAR_062314261D → N.1 PublicationCorresponds to variant rs35793208dbSNPEnsembl.1
Natural variantiVAR_064185290W → L in NPHP11. 1 PublicationCorresponds to variant rs267607117dbSNPEnsembl.1
Natural variantiVAR_062315296W → C in MKS3; unknown pathological significance. Corresponds to variant rs386834208dbSNPEnsembl.1
Natural variantiVAR_076873301D → E Probable disease-associated disorder found in Joubert syndrome-related disorder. 1 Publication1
Natural variantiVAR_062316320S → C Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene. 1 PublicationCorresponds to variant rs111619594dbSNPEnsembl.1
Natural variantiVAR_063790349L → S in COACHS and MKS3. 2 PublicationsCorresponds to variant rs386834180dbSNPEnsembl.1
Natural variantiVAR_063791358P → L in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 2 Publications1
Natural variantiVAR_063792372T → K in COACHS. 2 Publications1
Natural variantiVAR_063793376Q → E in COACHS. 1 Publication1
Natural variantiVAR_025474376Q → P in MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane. 2 PublicationsCorresponds to variant rs137853106dbSNPEnsembl.1
Natural variantiVAR_062317437L → V.1 PublicationCorresponds to variant rs35765535dbSNPEnsembl.1
Natural variantiVAR_062318440R → Q in MKS3 and COACHS. 2 PublicationsCorresponds to variant rs386834182dbSNPEnsembl.1
Natural variantiVAR_063794441R → C in COACHS. 1 PublicationCorresponds to variant rs752362727dbSNPEnsembl.1
Natural variantiVAR_076874441R → L in MKS3. 1 Publication1
Natural variantiVAR_063795485P → S in COACHS. 1 Publication1
Natural variantiVAR_031987513Y → C in JBTS6, MKS3 and COACHS. 3 PublicationsCorresponds to variant rs137853107dbSNPEnsembl.1
Natural variantiVAR_031988545G → E in JBTS6. 1 PublicationCorresponds to variant rs267607114dbSNPEnsembl.1
Natural variantiVAR_076875569G → D Probable disease-associated disorder found in Joubert syndrome-related disorder. 1 Publication1
Natural variantiVAR_063796590F → S in COACHS. 1 PublicationCorresponds to variant rs267607115dbSNPEnsembl.1
Natural variantiVAR_025475604I → V.2 PublicationsCorresponds to variant rs3134031dbSNPEnsembl.1
Natural variantiVAR_062319615C → R in MKS3, COACHS and NPHP11. 3 PublicationsCorresponds to variant rs201893408dbSNPEnsembl.1
Natural variantiVAR_076876616A → V Probable disease-associated disorder found in Joubert syndrome-related disorder. 1 Publication1
Natural variantiVAR_063797637F → L in COACHS. 1 Publication1
Natural variantiVAR_076877668W → R in MKS3. 1 Publication1
Natural variantiVAR_075699711D → A in JBTS6. 1 PublicationCorresponds to variant rs781383498dbSNPEnsembl.1
Natural variantiVAR_063798728S → G in COACHS. 1 Publication1
Natural variantiVAR_076878739L → R Probable disease-associated disorder found in Joubert syndrome-related disorder. 1 Publication1
Natural variantiVAR_063799782H → R in COACHS. 1 PublicationCorresponds to variant rs777137476dbSNPEnsembl.1
Natural variantiVAR_076879786G → E in MKS3. 1 Publication1
Natural variantiVAR_063800820R → S in COACHS. 1 Publication1
Natural variantiVAR_064186821G → R in NPHP11. 1 PublicationCorresponds to variant rs267607116dbSNPEnsembl.1
Natural variantiVAR_064187821G → S in NPHP11. 1 PublicationCorresponds to variant rs267607116dbSNPEnsembl.1
Natural variantiVAR_063801833I → T in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 4 PublicationsCorresponds to variant rs267607119dbSNPEnsembl.1
Natural variantiVAR_063802841Q → P in COACHS. 1 Publication1
Natural variantiVAR_076880843Y → C in MKS3. 1 Publication1
Natural variantiVAR_063803942F → C in COACHS. 1 Publication1
Natural variantiVAR_062320966L → P in MKS3. 1 PublicationCorresponds to variant rs386834199dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0444751 – 136MATRG…GHILV → MSLSHWPYFRLVLNFRPQVI CLPQPPKVLGYRLEPPHLTL ACTLEGMYNIIEEIL in isoform 2. 1 PublicationAdd BLAST136

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092244 mRNA. Translation: BAG52507.1.
AK094935 mRNA. Translation: BAG52959.1. Different initiation.
BX648768 mRNA. Translation: CAI45999.1.
AC010834 Genomic DNA. No translation available.
CH471060 Genomic DNA. Translation: EAW91703.1.
BC032835 mRNA. Translation: AAH32835.1. Different initiation.
CCDSiCCDS47893.1. [Q5HYA8-3]
CCDS6258.2. [Q5HYA8-1]
RefSeqiNP_001135773.1. NM_001142301.1. [Q5HYA8-3]
NP_714915.3. NM_153704.5. [Q5HYA8-1]
UniGeneiHs.116240.

Genome annotation databases

EnsembliENST00000409623; ENSP00000386966; ENSG00000164953. [Q5HYA8-3]
ENST00000453321; ENSP00000389998; ENSG00000164953. [Q5HYA8-1]
GeneIDi91147.
KEGGihsa:91147.
UCSCiuc003yga.5. human. [Q5HYA8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092244 mRNA. Translation: BAG52507.1.
AK094935 mRNA. Translation: BAG52959.1. Different initiation.
BX648768 mRNA. Translation: CAI45999.1.
AC010834 Genomic DNA. No translation available.
CH471060 Genomic DNA. Translation: EAW91703.1.
BC032835 mRNA. Translation: AAH32835.1. Different initiation.
CCDSiCCDS47893.1. [Q5HYA8-3]
CCDS6258.2. [Q5HYA8-1]
RefSeqiNP_001135773.1. NM_001142301.1. [Q5HYA8-3]
NP_714915.3. NM_153704.5. [Q5HYA8-1]
UniGeneiHs.116240.

3D structure databases

ProteinModelPortaliQ5HYA8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124799. 73 interactors.
IntActiQ5HYA8. 47 interactors.
STRINGi9606.ENSP00000389998.

Protein family/group databases

TCDBi9.B.77.1.1. the meckel syndrome protein (meckelin) family.

PTM databases

iPTMnetiQ5HYA8.
PhosphoSitePlusiQ5HYA8.

Polymorphism and mutation databases

BioMutaiTMEM67.
DMDMi317373389.

Proteomic databases

EPDiQ5HYA8.
MaxQBiQ5HYA8.
PaxDbiQ5HYA8.
PeptideAtlasiQ5HYA8.
PRIDEiQ5HYA8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409623; ENSP00000386966; ENSG00000164953. [Q5HYA8-3]
ENST00000453321; ENSP00000389998; ENSG00000164953. [Q5HYA8-1]
GeneIDi91147.
KEGGihsa:91147.
UCSCiuc003yga.5. human. [Q5HYA8-1]

Organism-specific databases

CTDi91147.
DisGeNETi91147.
GeneCardsiTMEM67.
GeneReviewsiTMEM67.
H-InvDBHIX0007648.
HGNCiHGNC:28396. TMEM67.
HPAiHPA039940.
MalaCardsiTMEM67.
MIMi209900. phenotype.
216360. phenotype.
607361. phenotype.
609884. gene.
610688. phenotype.
613550. phenotype.
neXtProtiNX_Q5HYA8.
OpenTargetsiENSG00000164953.
Orphaneti475. Joubert syndrome.
1454. Joubert syndrome with hepatic defect.
564. Meckel syndrome.
84081. Senior-Boichis syndrome.
PharmGKBiPA142670780.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4611. Eukaryota.
ENOG410XQCG. LUCA.
GeneTreeiENSGT00390000010606.
HOGENOMiHOG000231576.
HOVERGENiHBG080334.
InParanoidiQ5HYA8.
KOiK19348.
OMAiCEIPISK.
OrthoDBiEOG091G0OUO.
PhylomeDBiQ5HYA8.
TreeFamiTF317053.

Enzyme and pathway databases

ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Miscellaneous databases

ChiTaRSiTMEM67. human.
GeneWikiiTMEM67.
GenomeRNAii91147.
PROiQ5HYA8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164953.
CleanExiHS_TMEM67.
ExpressionAtlasiQ5HYA8. baseline and differential.
GenevisibleiQ5HYA8. HS.

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_HUMAN
AccessioniPrimary (citable) accession number: Q5HYA8
Secondary accession number(s): B3KRU5
, B3KT47, G5E9H2, Q3ZCX3, Q7Z5T8, Q8IZ06
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 124 of the entry and version 2 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 8
    Human chromosome 8: 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

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.