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Q5HYA8

- MKS3_HUMAN

UniProt

Q5HYA8 - MKS3_HUMAN

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Protein

Meckelin

Gene
TMEM67, MKS3
Organism
Homo sapiens (Human)
Status
Reviewed - 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).4 Publications

GO - Molecular functioni

  1. filamin binding Source: UniProtKB
  2. protein binding Source: UniProtKB
  3. unfolded protein binding Source: UniProtKB

GO - Biological processi

  1. cilium assembly Source: UniProtKB
  2. cilium morphogenesis Source: UniProtKB
  3. ER-associated ubiquitin-dependent protein catabolic process Source: UniProtKB
  4. negative regulation of centrosome duplication Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:28396. TMEM67.

Subcellular locationi

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasmcytoskeletoncilium basal body
Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme By similarity.3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei9 – 2921Helical; Reviewed predictionAdd
BLAST
Transmembranei526 – 54621Helical; Reviewed predictionAdd
BLAST
Transmembranei570 – 59021Helical; Reviewed predictionAdd
BLAST
Transmembranei609 – 62921Helical; Reviewed predictionAdd
BLAST
Transmembranei689 – 70921Helical; Reviewed predictionAdd
BLAST
Transmembranei734 – 75421Helical; Reviewed predictionAdd
BLAST
Transmembranei939 – 95921Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. centrosome Source: UniProtKB
  2. ciliary membrane Source: UniProtKB
  3. cytoplasmic vesicle membrane Source: UniProtKB
  4. endoplasmic reticulum membrane Source: UniProtKB
  5. integral component of membrane Source: UniProtKB-KW
  6. TCTN-B9D 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) [MIM:607361]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541Y → C in MKS3; unknown pathological significance. 1 Publication
VAR_062310
Natural varianti245 – 2451S → F in MKS3; unknown pathological significance. 1 Publication
VAR_062312
Natural varianti252 – 2521M → T in MKS3 and COACHS. 3 Publications
VAR_062313
Natural varianti296 – 2961W → C in MKS3; unknown pathological significance. 1 Publication
VAR_062315
Natural varianti376 – 3761Q → P in MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane. 2 Publications
VAR_025474
Natural varianti440 – 4401R → Q in MKS3 and COACHS. 2 Publications
VAR_062318
Natural varianti513 – 5131Y → C in JBTS6, MKS3 and COACHS. 3 Publications
VAR_031987
Natural varianti615 – 6151C → R in MKS3, COACHS and NPHP11. 3 Publications
VAR_062319
Natural varianti966 – 9661L → P in MKS3. 1 Publication
VAR_062320
Joubert syndrome 6 (JBTS6) [MIM:610688]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti358 – 3581P → L in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 2 Publications
VAR_063791
Natural varianti513 – 5131Y → C in JBTS6, MKS3 and COACHS. 3 Publications
VAR_031987
Natural varianti545 – 5451G → E in JBTS6. 1 Publication
VAR_031988
Natural varianti833 – 8331I → T in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 4 Publications
VAR_063801
Bardet-Biedl syndrome (BBS) [MIM:209900]: A 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.
Note: 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.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti320 – 3201S → C Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene. 1 Publication
Corresponds to variant rs111619594 [ dbSNP | Ensembl ].
VAR_062316
COACH syndrome (COACHS) [MIM:216360]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti99 – 991K → N in COACHS. 1 Publication
VAR_063785
Natural varianti130 – 1301P → R in COACHS. 2 Publications
VAR_063786
Natural varianti172 – 1721R → Q in COACHS. 1 Publication
VAR_063787
Natural varianti242 – 2421N → T in COACHS. 1 Publication
VAR_063788
Natural varianti252 – 2521M → T in MKS3 and COACHS. 3 Publications
VAR_062313
Natural varianti257 – 2571M → V in COACHS. 1 Publication
VAR_063789
Natural varianti349 – 3491L → S in COACHS. 1 Publication
VAR_063790
Natural varianti358 – 3581P → L in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 2 Publications
VAR_063791
Natural varianti372 – 3721T → K in COACHS. 2 Publications
VAR_063792
Natural varianti376 – 3761Q → E in COACHS. 1 Publication
VAR_063793
Natural varianti440 – 4401R → Q in MKS3 and COACHS. 2 Publications
VAR_062318
Natural varianti441 – 4411R → C in COACHS. 1 Publication
VAR_063794
Natural varianti485 – 4851P → S in COACHS. 1 Publication
VAR_063795
Natural varianti513 – 5131Y → C in JBTS6, MKS3 and COACHS. 3 Publications
VAR_031987
Natural varianti590 – 5901F → S in COACHS. 1 Publication
VAR_063796
Natural varianti615 – 6151C → R in MKS3, COACHS and NPHP11. 3 Publications
VAR_062319
Natural varianti637 – 6371F → L in COACHS. 1 Publication
VAR_063797
Natural varianti728 – 7281S → G in COACHS. 1 Publication
VAR_063798
Natural varianti782 – 7821H → R in COACHS. 1 Publication
VAR_063799
Natural varianti820 – 8201R → S in COACHS. 1 Publication
VAR_063800
Natural varianti833 – 8331I → T in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 4 Publications
VAR_063801
Natural varianti841 – 8411Q → P in COACHS. 1 Publication
VAR_063802
Natural varianti942 – 9421F → C in COACHS. 1 Publication
VAR_063803
Nephronophthisis 11 (NPHP11) [MIM:613550]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti290 – 2901W → L in NPHP11. 1 Publication
VAR_064185
Natural varianti615 – 6151C → R in MKS3, COACHS and NPHP11. 3 Publications
VAR_062319
Natural varianti821 – 8211G → R in NPHP11. 1 Publication
VAR_064186
Natural varianti821 – 8211G → S in NPHP11. 1 Publication
VAR_064187

Keywords - Diseasei

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

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 995995MeckelinPRO_0000225689Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ5HYA8.
PaxDbiQ5HYA8.
PRIDEiQ5HYA8.

PTM databases

PhosphoSiteiQ5HYA8.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ5HYA8.
BgeeiQ5HYA8.
CleanExiHS_TMEM67.
GenevestigatoriQ5HYA8.

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.4 Publications

Protein-protein interaction databases

BioGridi124799. 4 interactions.
STRINGi9606.ENSP00000389998.

Structurei

3D structure databases

ProteinModelPortaliQ5HYA8.

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG277231.
HOGENOMiHOG000231576.
HOVERGENiHBG080334.
InParanoidiQ5HYA8.
OMAiDISALSC.
OrthoDBiEOG7PCJGG.
PhylomeDBiQ5HYA8.
TreeFamiTF317053.

Family and domain databases

InterProiIPR009030. Growth_fac_rcpt_N_dom.
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. Align

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

MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD    50
NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC 100
PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC 150
ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS 200
TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG 250
NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG 300
DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE 350
GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE 400
YTDENQHQYI LAVPVLNLNL QHNKIFVNQD SNSGKWLLTR RIFLVDAVSG 450
RENDLGTQPR VIRVATQISL SVHLVPNTIN GNIYPPLITI AYSDIDIKDA 500
NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL LKTAGWKRRI 550
GSPMIDLQTV VKFLVYYAGD LANVFFIITV GTGLYWLIFF KAQKSVSVLL 600
PMPIQEERFV TYVGCAFALK ALQFLHKLIS QITIDVFFID WERPKGKVLK 650
AVEGEGGVRS ATVPVSIWRT YFVANEWNEI QTVRKINSLF QVLTVLFFLE 700
VVGFKNLALM DSSSSLSRNP PSYIAPYSCI LRYAVSAALW LAIGIIQVVF 750
FAVFYERFIE DKIRQFVDLC SMSNISVFLL SHKCFGYYIH GRSVHGHADT 800
NMEEMNMNLK REAENLCSQR GLVPNTDGQT FEIAISNQMR QHYDRIHETL 850
IRKNGPARLL SSSASTFEQS IKAYHMMNKF LGSFIDHVHK EMDYFIKDKL 900
LLERILGMEF MEPMEKSIFY NDEGYSFSSV LYYGNEATLL IFDLLFFCVV 950
DLACQNFILA SFLTYLQQEI FRYIRNTVGQ KNLASKTLVD QRFLI 995
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.

Show »
Length:914
Mass (Da):103,590
Checksum:iB7E458801DEA5E2C
GO

Sequence cautioni

The sequence AAH32835.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAG52959.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541Y → C in MKS3; unknown pathological significance. 1 Publication
VAR_062310
Natural varianti82 – 821P → R in a patient with Joubert syndrome related disorder without clinically apparent liver disease. 1 Publication
VAR_063783
Natural varianti82 – 821P → S in a patient with Joubert syndrome related disorder without clinically apparent liver disease. 1 Publication
VAR_063784
Natural varianti99 – 991K → N in COACHS. 1 Publication
VAR_063785
Natural varianti130 – 1301P → R in COACHS. 2 Publications
VAR_063786
Natural varianti172 – 1721R → Q in COACHS. 1 Publication
VAR_063787
Natural varianti218 – 2181G → A.1 Publication
VAR_062311
Natural varianti242 – 2421N → T in COACHS. 1 Publication
VAR_063788
Natural varianti245 – 2451S → F in MKS3; unknown pathological significance. 1 Publication
VAR_062312
Natural varianti252 – 2521M → T in MKS3 and COACHS. 3 Publications
VAR_062313
Natural varianti257 – 2571M → V in COACHS. 1 Publication
VAR_063789
Natural varianti261 – 2611D → N.1 Publication
Corresponds to variant rs35793208 [ dbSNP | Ensembl ].
VAR_062314
Natural varianti290 – 2901W → L in NPHP11. 1 Publication
VAR_064185
Natural varianti296 – 2961W → C in MKS3; unknown pathological significance. 1 Publication
VAR_062315
Natural varianti320 – 3201S → C Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene. 1 Publication
Corresponds to variant rs111619594 [ dbSNP | Ensembl ].
VAR_062316
Natural varianti349 – 3491L → S in COACHS. 1 Publication
VAR_063790
Natural varianti358 – 3581P → L in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 2 Publications
VAR_063791
Natural varianti372 – 3721T → K in COACHS. 2 Publications
VAR_063792
Natural varianti376 – 3761Q → E in COACHS. 1 Publication
VAR_063793
Natural varianti376 – 3761Q → P in MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane. 2 Publications
VAR_025474
Natural varianti437 – 4371L → V.1 Publication
Corresponds to variant rs35765535 [ dbSNP | Ensembl ].
VAR_062317
Natural varianti440 – 4401R → Q in MKS3 and COACHS. 2 Publications
VAR_062318
Natural varianti441 – 4411R → C in COACHS. 1 Publication
VAR_063794
Natural varianti485 – 4851P → S in COACHS. 1 Publication
VAR_063795
Natural varianti513 – 5131Y → C in JBTS6, MKS3 and COACHS. 3 Publications
VAR_031987
Natural varianti545 – 5451G → E in JBTS6. 1 Publication
VAR_031988
Natural varianti590 – 5901F → S in COACHS. 1 Publication
VAR_063796
Natural varianti604 – 6041I → V.2 Publications
Corresponds to variant rs3134031 [ dbSNP | Ensembl ].
VAR_025475
Natural varianti615 – 6151C → R in MKS3, COACHS and NPHP11. 3 Publications
VAR_062319
Natural varianti637 – 6371F → L in COACHS. 1 Publication
VAR_063797
Natural varianti728 – 7281S → G in COACHS. 1 Publication
VAR_063798
Natural varianti782 – 7821H → R in COACHS. 1 Publication
VAR_063799
Natural varianti820 – 8201R → S in COACHS. 1 Publication
VAR_063800
Natural varianti821 – 8211G → R in NPHP11. 1 Publication
VAR_064186
Natural varianti821 – 8211G → S in NPHP11. 1 Publication
VAR_064187
Natural varianti833 – 8331I → T in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 4 Publications
VAR_063801
Natural varianti841 – 8411Q → P in COACHS. 1 Publication
VAR_063802
Natural varianti942 – 9421F → C in COACHS. 1 Publication
VAR_063803
Natural varianti966 – 9661L → P in MKS3. 1 Publication
VAR_062320

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 136136MATRG…GHILV → MSLSHWPYFRLVLNFRPQVI CLPQPPKVLGYRLEPPHLTL ACTLEGMYNIIEEIL in isoform 2. VSP_044475Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti251 – 2511N → S in BAG52507. 1 Publication
Sequence conflicti325 – 3251N → D in BAG52507. 1 Publication
Isoform 2 (identifier: Q5HYA8-3)
Sequence conflicti18 – 181Q → R in BAG52507. 1 Publication
Sequence conflicti24 – 241Q → R in BAG52507. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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

EnsembliENST00000323130; ENSP00000314488; ENSG00000164953.
ENST00000409623; ENSP00000386966; ENSG00000164953. [Q5HYA8-3]
ENST00000453321; ENSP00000389998; ENSG00000164953. [Q5HYA8-1]
GeneIDi91147.
KEGGihsa:91147.
UCSCiuc003yga.4. human. [Q5HYA8-3]
uc011lgk.2. human. [Q5HYA8-1]

Polymorphism databases

DMDMi317373389.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS47893.1. [Q5HYA8-3 ]
CCDS6258.2. [Q5HYA8-1 ]
RefSeqi NP_001135773.1. NM_001142301.1. [Q5HYA8-3 ]
NP_714915.3. NM_153704.5. [Q5HYA8-1 ]
UniGenei Hs.116240.

3D structure databases

ProteinModelPortali Q5HYA8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124799. 4 interactions.
STRINGi 9606.ENSP00000389998.

Protein family/group databases

TCDBi 9.B.77.1.1. the meckel syndrome protein (meckelin) family.

PTM databases

PhosphoSitei Q5HYA8.

Polymorphism databases

DMDMi 317373389.

Proteomic databases

MaxQBi Q5HYA8.
PaxDbi Q5HYA8.
PRIDEi Q5HYA8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000323130 ; ENSP00000314488 ; ENSG00000164953 .
ENST00000409623 ; ENSP00000386966 ; ENSG00000164953 . [Q5HYA8-3 ]
ENST00000453321 ; ENSP00000389998 ; ENSG00000164953 . [Q5HYA8-1 ]
GeneIDi 91147.
KEGGi hsa:91147.
UCSCi uc003yga.4. human. [Q5HYA8-3 ]
uc011lgk.2. human. [Q5HYA8-1 ]

Organism-specific databases

CTDi 91147.
GeneCardsi GC08P094837.
GeneReviewsi TMEM67.
H-InvDB HIX0007648.
HGNCi HGNC:28396. TMEM67.
HPAi HPA039940.
MIMi 209900. phenotype.
216360. phenotype.
607361. phenotype.
609884. gene.
610688. phenotype.
613550. phenotype.
neXtProti NX_Q5HYA8.
Orphaneti 475. Joubert syndrome.
1454. Joubert syndrome with hepatic defect.
564. Meckel syndrome.
84081. Senior-Boichis syndrome.
PharmGKBi PA142670780.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG277231.
HOGENOMi HOG000231576.
HOVERGENi HBG080334.
InParanoidi Q5HYA8.
OMAi DISALSC.
OrthoDBi EOG7PCJGG.
PhylomeDBi Q5HYA8.
TreeFami TF317053.

Miscellaneous databases

GeneWikii TMEM67.
GenomeRNAii 91147.
NextBioi 77120.
PROi Q5HYA8.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q5HYA8.
Bgeei Q5HYA8.
CleanExi HS_TMEM67.
Genevestigatori Q5HYA8.

Family and domain databases

InterProi IPR009030. Growth_fac_rcpt_N_dom.
IPR019170. Meckelin.
[Graphical view ]
PANTHERi PTHR21274:SF0. PTHR21274:SF0. 1 hit.
Pfami PF09773. Meckelin. 1 hit.
[Graphical view ]
SUPFAMi SSF57184. SSF57184. 1 hit.
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Publicationsi

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  1. "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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-995 (ISOFORM 1), VARIANT VAL-604.
    Tissue: Corpus callosum.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-604.
    Tissue: Testis.
  3. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [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] OF 5-995 (ISOFORM 1).
    Tissue: Testis.
  6. "The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation."
    Dawe H.R., Smith U.M., Cullinane A.R., Gerrelli D., Cox P., Badano J.L., Blair-Reid S., Sriram N., Katsanis N., Attie-Bitach T., Afford S.C., Copp A.J., Kelly D.A., Gull K., Johnson C.A.
    Hum. Mol. Genet. 16:173-186(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT MKS3 PRO-376, FUNCTION, INTERACTION WITH MKS1.
  7. "Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3."
    Tammachote R., Hommerding C.J., Sinders R.M., Miller C.A., Czarnecki P.G., Leightner A.C., Salisbury J.L., Ward C.J., Torres V.E., Gattone V.H. II, Harris P.C.
    Hum. Mol. Genet. 18:3311-3323(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. "Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C."
    Wang M., Bridges J.P., Na C.L., Xu Y., Weaver T.E.
    J. Biol. Chem. 284:33377-33383(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TOPOLOGY, FUNCTION, INTERACTION WITH DNAJB9; DNAJC10 AND SFTPC.
  9. "Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton."
    Dawe H.R., Adams M., Wheway G., Szymanska K., Logan C.V., Noegel A.A., Gull K., Johnson C.A.
    J. Cell Sci. 122:2716-2726(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH SYNE2, FUNCTION.
  10. Cited for: INTERACTION WITH FLNA.
  11. Cited for: VARIANT MKS3 PRO-376, TISSUE SPECIFICITY.
  12. Cited for: VARIANTS JBTS6 CYS-513 AND GLU-545.
  13. "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome."
    Leitch C.C., Zaghloul N.A., Davis E.E., Stoetzel C., Diaz-Font A., Rix S., Alfadhel M., Lewis R.A., Eyaid W., Banin E., Dollfus H., Beales P.L., Badano J.L., Katsanis N.
    Nat. Genet. 40:443-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALA-218; ASN-261; CYS-320 AND VAL-437, INVOLVEMENT IN BARDET-BIEDL SYNDROME.
  14. Cited for: VARIANTS COACHS ARG-130; LYS-372; GLN-440; SER-590; GLY-728; ARG-782; SER-820 AND THR-833.
  15. "Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?"
    Tallila J., Salonen R., Kohlschmidt N., Peltonen L., Kestilae M.
    Hum. Mutat. 30:E813-E830(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MKS3 CYS-54; PHE-245; THR-252; CYS-296 GLN-440; CYS-513; ARG-615 AND PRO-966.
  16. Cited for: VARIANTS NPHP11 LEU-290; ARG-615; SER-821 AND ARG-821, VARIANTS JBTS6 THR-252; ARG-615; ARG-821 AND THR-833.
  17. Cited for: VARIANTS COACHS ASN-99; ARG-130; GLN-172; THR-242; THR-252; VAL-257; SER-349; LEU-358; LYS-372; GLU-376; CYS-441; SER-485; CYS-513; ARG-615; LEU-637; THR-833; PRO-841 AND CYS-942, VARIANTS ARG-82 AND SER-82.
  18. Cited for: VARIANTS JBTS6 LEU-358 AND THR-833.

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: July 9, 2014
This is version 99 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

External Data

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