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Entry version 152 (26 Feb 2020)
Sequence version 2 (11 Jan 2011)
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Protein

Meckelin

Gene

TMEM67

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5620912 Anchoring of the basal body to the plasma membrane

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Meckelin
Alternative name(s):
Meckel syndrome type 3 protein
Transmembrane protein 67
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TMEM67
Synonyms:MKS3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:28396 TMEM67

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609884 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5HYA8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei526 – 546HelicalSequence analysisAdd BLAST21
Transmembranei570 – 590HelicalSequence analysisAdd BLAST21
Transmembranei609 – 629HelicalSequence analysisAdd BLAST21
Transmembranei689 – 709HelicalSequence analysisAdd BLAST21
Transmembranei734 – 754HelicalSequence analysisAdd BLAST21
Transmembranei939 – 959HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.2 Publications
Meckel syndrome 3 (MKS3)5 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06231054Y → C in MKS3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386834188Ensembl.1
Natural variantiVAR_062312245S → F in MKS3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386834206Ensembl.1
Natural variantiVAR_062313252M → T in MKS3, JBTS6 and COACHS. 4 PublicationsCorresponds to variant dbSNP:rs202149403Ensembl.1
Natural variantiVAR_062315296W → C in MKS3; unknown pathological significance. Corresponds to variant dbSNP:rs386834208Ensembl.1
Natural variantiVAR_063790349L → S in COACHS and MKS3. 2 PublicationsCorresponds to variant dbSNP:rs386834180Ensembl.1
Natural variantiVAR_025474376Q → P in MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane. 2 PublicationsCorresponds to variant dbSNP:rs137853106Ensembl.1
Natural variantiVAR_062318440R → Q in MKS3 and COACHS. 3 PublicationsCorresponds to variant dbSNP:rs386834182Ensembl.1
Natural variantiVAR_076874441R → L in MKS3. 1 PublicationCorresponds to variant dbSNP:rs386834183Ensembl.1
Natural variantiVAR_081744451 – 995Missing in MKS3. 1 PublicationAdd BLAST545
Natural variantiVAR_062319615C → R in MKS3, COACHS and NPHP11. 3 PublicationsCorresponds to variant dbSNP:rs201893408Ensembl.1
Natural variantiVAR_076877668W → R in MKS3. 1 PublicationCorresponds to variant dbSNP:rs386834189Ensembl.1
Natural variantiVAR_076879786G → E in MKS3. 1 PublicationCorresponds to variant dbSNP:rs386834193Ensembl.1
Natural variantiVAR_076880843Y → C in MKS3. 1 PublicationCorresponds to variant dbSNP:rs386834194Ensembl.1
Natural variantiVAR_062320966L → P in MKS3. 2 PublicationsCorresponds to variant dbSNP:rs386834199Ensembl.1
Joubert syndrome 6 (JBTS6)5 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08174144 – 995Missing in JBTS6. 1 PublicationAdd BLAST952
Natural variantiVAR_06378382P → R in JBTS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs772437766Ensembl.1
Natural variantiVAR_06378482P → S in JBTS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs762543032Ensembl.1
Natural variantiVAR_081742208 – 995Missing in JBTS6, MKS3 and RHYNS. 3 PublicationsAdd BLAST788
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 PublicationsCorresponds to variant dbSNP:rs863225232Ensembl.1
Natural variantiVAR_031987513Y → C in JBTS6, MKS3 and COACHS. 3 PublicationsCorresponds to variant dbSNP:rs137853107Ensembl.1
Natural variantiVAR_031988545G → E in JBTS6. 1 PublicationCorresponds to variant dbSNP:rs267607114Ensembl.1
Natural variantiVAR_075699711D → A in JBTS6. 1 PublicationCorresponds to variant dbSNP:rs781383498Ensembl.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 dbSNP:rs267607119Ensembl.1
Bardet-Biedl syndrome 14 (BBS14)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.
Related information in OMIM
COACH syndrome (COACHS)3 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06378599K → N in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs797046045Ensembl.1
Natural variantiVAR_063786130P → R in COACHS. 2 PublicationsCorresponds to variant dbSNP:rs863225226Ensembl.1
Natural variantiVAR_079632132G → A in COACHS; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model. 1 PublicationCorresponds to variant dbSNP:rs1490496033Ensembl.1
Natural variantiVAR_063787172R → Q in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750950408Ensembl.1
Natural variantiVAR_063788242N → T in COACHS. 1 Publication1
Natural variantiVAR_062313252M → T in MKS3, JBTS6 and COACHS. 4 PublicationsCorresponds to variant dbSNP:rs202149403Ensembl.1
Natural variantiVAR_063789257M → V in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225227Ensembl.1
Natural variantiVAR_063790349L → S in COACHS and MKS3. 2 PublicationsCorresponds to variant dbSNP:rs386834180Ensembl.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 PublicationsCorresponds to variant dbSNP:rs863225232Ensembl.1
Natural variantiVAR_063792372T → K in COACHS. 2 PublicationsCorresponds to variant dbSNP:rs863225235Ensembl.1
Natural variantiVAR_063793376Q → E in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225231Ensembl.1
Natural variantiVAR_062318440R → Q in MKS3 and COACHS. 3 PublicationsCorresponds to variant dbSNP:rs386834182Ensembl.1
Natural variantiVAR_063794441R → C in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752362727Ensembl.1
Natural variantiVAR_063795485P → S in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225228Ensembl.1
Natural variantiVAR_031987513Y → C in JBTS6, MKS3 and COACHS. 3 PublicationsCorresponds to variant dbSNP:rs137853107Ensembl.1
Natural variantiVAR_063796590F → S in COACHS. 1 PublicationCorresponds to variant dbSNP:rs267607115Ensembl.1
Natural variantiVAR_063797637F → L in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225225Ensembl.1
Natural variantiVAR_063798728S → G in COACHS. 1 Publication1
Natural variantiVAR_063799782H → R in COACHS. 1 PublicationCorresponds to variant dbSNP:rs777137476Ensembl.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 dbSNP:rs267607119Ensembl.1
Natural variantiVAR_063802841Q → P in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225234Ensembl.1
Natural variantiVAR_063803942F → C in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225233Ensembl.1
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064185290W → L in NPHP11. 1 PublicationCorresponds to variant dbSNP:rs267607117Ensembl.1
Natural variantiVAR_062319615C → R in MKS3, COACHS and NPHP11. 3 PublicationsCorresponds to variant dbSNP:rs201893408Ensembl.1
Natural variantiVAR_064186821G → R in NPHP11. 1 PublicationCorresponds to variant dbSNP:rs267607116Ensembl.1
Natural variantiVAR_064187821G → S in NPHP11. 1 PublicationCorresponds to variant dbSNP:rs267607116Ensembl.1
RHYNS syndrome (RHYNS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and skeletal dysplasia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081742208 – 995Missing in JBTS6, MKS3 and RHYNS. 3 PublicationsAdd BLAST788
Natural variantiVAR_081743430D → G in RHYNS; may result in exon 13 skipping. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

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DisGeNETi
91147

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
TMEM67

MalaCards human disease database

More...
MalaCardsi
TMEM67
MIMi216360 phenotype
602152 phenotype
607361 phenotype
610688 phenotype
613550 phenotype
615991 phenotype

Open Targets

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OpenTargetsi
ENSG00000164953

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
475 Joubert syndrome
1454 Joubert syndrome with hepatic defect
564 Meckel syndrome
84081 Senior-Boichis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA142670780

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q5HYA8 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TMEM67

Domain mapping of disease mutations (DMDM)

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DMDMi
317373389

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 35Sequence analysisAdd BLAST35
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000022568936 – 995MeckelinSequence analysisAdd BLAST960

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi242N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q5HYA8

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q5HYA8

MaxQB - The MaxQuant DataBase

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MaxQBi
Q5HYA8

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q5HYA8

PeptideAtlas

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PeptideAtlasi
Q5HYA8

PRoteomics IDEntifications database

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PRIDEi
Q5HYA8

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
33938
62928 [Q5HYA8-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q5HYA8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q5HYA8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000164953 Expressed in buccal mucosa cell and 153 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q5HYA8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5HYA8 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124799, 85 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q5HYA8

Protein interaction database and analysis system

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IntActi
Q5HYA8, 71 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000389998

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q5HYA8 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4611 Eukaryota
ENOG410XQCG LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000010606

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q5HYA8

KEGG Orthology (KO)

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KOi
K19348

Identification of Orthologs from Complete Genome Data

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OMAi
KGTFYID

Database of Orthologous Groups

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OrthoDBi
1564517at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q5HYA8

TreeFam database of animal gene trees

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TreeFami
TF317053

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009030 Growth_fac_rcpt_cys_sf
IPR019170 Meckelin

The PANTHER Classification System

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PANTHERi
PTHR21274 PTHR21274, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF09773 Meckelin, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57184 SSF57184, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5HYA8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFP8A0A0C4DFP8_HUMAN
Meckelin
TMEM67 hCG_1643235
985Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YB69H0YB69_HUMAN
Meckelin
TMEM67
239Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YAR5H0YAR5_HUMAN
Meckelin
TMEM67
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JHI2C9JHI2_HUMAN
Meckelin
TMEM67
180Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YC18H0YC18_HUMAN
Meckelin
TMEM67
173Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RH38E5RH38_HUMAN
Meckelin
TMEM67
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCQ6F8WCQ6_HUMAN
Meckelin
TMEM67
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JRQ8C9JRQ8_HUMAN
Meckelin
TMEM67
397Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RG10E5RG10_HUMAN
Meckelin
TMEM67
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH32835 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAG52959 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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_08174144 – 995Missing in JBTS6. 1 PublicationAdd BLAST952
Natural variantiVAR_06231054Y → C in MKS3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386834188Ensembl.1
Natural variantiVAR_06378382P → R in JBTS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs772437766Ensembl.1
Natural variantiVAR_06378482P → S in JBTS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs762543032Ensembl.1
Natural variantiVAR_07687190N → K Probable disease-associated disorder found in Joubert syndrome-related disorder. 1 Publication1
Natural variantiVAR_06378599K → N in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs797046045Ensembl.1
Natural variantiVAR_076872124E → K Probable disease-associated disorder found in Joubert syndrome-related disorder. 1 PublicationCorresponds to variant dbSNP:rs375824494Ensembl.1
Natural variantiVAR_063786130P → R in COACHS. 2 PublicationsCorresponds to variant dbSNP:rs863225226Ensembl.1
Natural variantiVAR_079632132G → A in COACHS; does not affect protein abundance; fails to rescue the hydrocephalus phenotype in a zebrafish model. 1 PublicationCorresponds to variant dbSNP:rs1490496033Ensembl.1
Natural variantiVAR_063787172R → Q in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750950408Ensembl.1
Natural variantiVAR_081742208 – 995Missing in JBTS6, MKS3 and RHYNS. 3 PublicationsAdd BLAST788
Natural variantiVAR_062311218G → A1 PublicationCorresponds to variant dbSNP:rs202036490Ensembl.1
Natural variantiVAR_063788242N → T in COACHS. 1 Publication1
Natural variantiVAR_062312245S → F in MKS3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386834206Ensembl.1
Natural variantiVAR_062313252M → T in MKS3, JBTS6 and COACHS. 4 PublicationsCorresponds to variant dbSNP:rs202149403Ensembl.1
Natural variantiVAR_063789257M → V in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225227Ensembl.1
Natural variantiVAR_062314261D → N1 PublicationCorresponds to variant dbSNP:rs35793208Ensembl.1
Natural variantiVAR_064185290W → L in NPHP11. 1 PublicationCorresponds to variant dbSNP:rs267607117Ensembl.1
Natural variantiVAR_062315296W → C in MKS3; unknown pathological significance. Corresponds to variant dbSNP:rs386834208Ensembl.1
Natural variantiVAR_076873301D → E Probable disease-associated disorder found in Joubert syndrome-related disorder. 1 PublicationCorresponds to variant dbSNP:rs756906837Ensembl.1
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 dbSNP:rs111619594Ensembl.1
Natural variantiVAR_063790349L → S in COACHS and MKS3. 2 PublicationsCorresponds to variant dbSNP:rs386834180Ensembl.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 PublicationsCorresponds to variant dbSNP:rs863225232Ensembl.1
Natural variantiVAR_063792372T → K in COACHS. 2 PublicationsCorresponds to variant dbSNP:rs863225235Ensembl.1
Natural variantiVAR_063793376Q → E in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225231Ensembl.1
Natural variantiVAR_025474376Q → P in MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane. 2 PublicationsCorresponds to variant dbSNP:rs137853106Ensembl.1
Natural variantiVAR_081743430D → G in RHYNS; may result in exon 13 skipping. 1 Publication1
Natural variantiVAR_062317437L → V1 PublicationCorresponds to variant dbSNP:rs35765535Ensembl.1
Natural variantiVAR_062318440R → Q in MKS3 and COACHS. 3 PublicationsCorresponds to variant dbSNP:rs386834182Ensembl.1
Natural variantiVAR_063794441R → C in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752362727Ensembl.1
Natural variantiVAR_076874441R → L in MKS3. 1 PublicationCorresponds to variant dbSNP:rs386834183Ensembl.1
Natural variantiVAR_081744451 – 995Missing in MKS3. 1 PublicationAdd BLAST545
Natural variantiVAR_063795485P → S in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225228Ensembl.1
Natural variantiVAR_031987513Y → C in JBTS6, MKS3 and COACHS. 3 PublicationsCorresponds to variant dbSNP:rs137853107Ensembl.1
Natural variantiVAR_031988545G → E in JBTS6. 1 PublicationCorresponds to variant dbSNP:rs267607114Ensembl.1
Natural variantiVAR_076875569G → D Probable disease-associated disorder found in Joubert syndrome-related disorder. 1 PublicationCorresponds to variant dbSNP:rs1017800436Ensembl.1
Natural variantiVAR_063796590F → S in COACHS. 1 PublicationCorresponds to variant dbSNP:rs267607115Ensembl.1
Natural variantiVAR_025475604I → V2 PublicationsCorresponds to variant dbSNP:rs3134031Ensembl.1
Natural variantiVAR_062319615C → R in MKS3, COACHS and NPHP11. 3 PublicationsCorresponds to variant dbSNP:rs201893408Ensembl.1
Natural variantiVAR_076876616A → V Probable disease-associated disorder found in Joubert syndrome-related disorder. 1 PublicationCorresponds to variant dbSNP:rs757204749Ensembl.1
Natural variantiVAR_063797637F → L in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225225Ensembl.1
Natural variantiVAR_076877668W → R in MKS3. 1 PublicationCorresponds to variant dbSNP:rs386834189Ensembl.1
Natural variantiVAR_075699711D → A in JBTS6. 1 PublicationCorresponds to variant dbSNP:rs781383498Ensembl.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 dbSNP:rs777137476Ensembl.1
Natural variantiVAR_076879786G → E in MKS3. 1 PublicationCorresponds to variant dbSNP:rs386834193Ensembl.1
Natural variantiVAR_063800820R → S in COACHS. 1 Publication1
Natural variantiVAR_064186821G → R in NPHP11. 1 PublicationCorresponds to variant dbSNP:rs267607116Ensembl.1
Natural variantiVAR_064187821G → S in NPHP11. 1 PublicationCorresponds to variant dbSNP:rs267607116Ensembl.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 dbSNP:rs267607119Ensembl.1
Natural variantiVAR_063802841Q → P in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225234Ensembl.1
Natural variantiVAR_076880843Y → C in MKS3. 1 PublicationCorresponds to variant dbSNP:rs386834194Ensembl.1
Natural variantiVAR_063803942F → C in COACHS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225233Ensembl.1
Natural variantiVAR_062320966L → P in MKS3. 2 PublicationsCorresponds to variant dbSNP:rs386834199Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0444751 – 136MATRG…GHILV → MSLSHWPYFRLVLNFRPQVI CLPQPPKVLGYRLEPPHLTL ACTLEGMYNIIEEIL in isoform 2. 1 PublicationAdd BLAST136

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47893.1 [Q5HYA8-3]
CCDS6258.2 [Q5HYA8-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001135773.1, NM_001142301.1 [Q5HYA8-3]
NP_714915.3, NM_153704.5 [Q5HYA8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000409623; ENSP00000386966; ENSG00000164953 [Q5HYA8-3]
ENST00000453321; ENSP00000389998; ENSG00000164953 [Q5HYA8-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
91147

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:91147

UCSC genome browser

More...
UCSCi
uc003yga.5 human [Q5HYA8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi124799, 85 interactors
CORUMiQ5HYA8
IntActiQ5HYA8, 71 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

jPOSTiQ5HYA8
MassIVEiQ5HYA8
MaxQBiQ5HYA8
PaxDbiQ5HYA8
PeptideAtlasiQ5HYA8
PRIDEiQ5HYA8
ProteomicsDBi33938
62928 [Q5HYA8-1]

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
91147
DisGeNETi91147

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TMEM67
GeneReviewsiTMEM67
HGNCiHGNC:28396 TMEM67
MalaCardsiTMEM67
MIMi216360 phenotype
602152 phenotype
607361 phenotype
609884 gene
610688 phenotype
613550 phenotype
615991 phenotype
neXtProtiNX_Q5HYA8
OpenTargetsiENSG00000164953
Orphaneti475 Joubert syndrome
1454 Joubert syndrome with hepatic defect
564 Meckel syndrome
84081 Senior-Boichis syndrome
PharmGKBiPA142670780

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4611 Eukaryota
ENOG410XQCG LUCA
GeneTreeiENSGT00390000010606
InParanoidiQ5HYA8
KOiK19348
OMAiKGTFYID
OrthoDBi1564517at2759
PhylomeDBiQ5HYA8
TreeFamiTF317053

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TMEM67 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TMEM67

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
91147
PharosiQ5HYA8 Tbio

Protein Ontology

More...
PROi
PR:Q5HYA8
RNActiQ5HYA8 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164953 Expressed in buccal mucosa cell and 153 other tissues
ExpressionAtlasiQ5HYA8 baseline and differential
GenevisibleiQ5HYA8 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMKS3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5HYA8
Secondary accession number(s): B3KRU5
, B3KT47, G5E9H2, Q3ZCX3, Q7Z5T8, Q8IZ06
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: January 11, 2011
Last modified: February 26, 2020
This is version 152 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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