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Q9NXB0 (MKS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Meckel syndrome type 1 protein
Gene names
Name:MKS1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length559 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. Ref.6 Ref.7

Subunit structure

Part of the tectonic-like complex (also named B9 complex) By similarity. Interacts with TCTN3 and AHI1 By similarity. Interacts with FLNA. Ref.6 Ref.9

Subcellular location

Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme By similarity. Ref.6 Ref.8

Involvement in disease

Meckel syndrome 1 (MKS1) [MIM:249000]: 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. Ref.1 Ref.12

Bardet-Biedl syndrome 13 (BBS13) [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 disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Contains 1 B9 domain.

Sequence caution

The sequence AAH10061.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAA91105.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NXB0-1)

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.
Isoform 2 (identifier: Q9NXB0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     471-559: ERLSRFGLRT...LVSPSGTLVS → LSSSKTKEGR...RLRYELFLSK
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9NXB0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MAETVWSTDTGEAVYRSRDPVRNLRL → MAVPVSSFAQRTRSRF
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 559559Meckel syndrome type 1 protein
PRO_0000225686

Regions

Domain311 – 439129B9

Natural variations

Alternative sequence1 – 2626MAETV…RNLRL → MAVPVSSFAQRTRSRF in isoform 3.
VSP_046063
Alternative sequence471 – 55989ERLSR…GTLVS → LSSSKTKEGRKVDGERVLNP QPVSLSLFPGKPHSTAWGLL RLRYELFLSK in isoform 2.
VSP_017414
Natural variant391L → F.
Corresponds to variant rs11653070 [ dbSNP | Ensembl ].
VAR_060161
Natural variant1231R → Q. Ref.10
VAR_062287
Natural variant1661R → W in MKS1; unknown pathological significance. Ref.12
VAR_062288
Natural variant2861D → G. Ref.10
Corresponds to variant rs151023718 [ dbSNP | Ensembl ].
VAR_062289
Natural variant3711Missing in BBS13. Ref.10
VAR_062290
Natural variant4501I → T. Ref.10
VAR_062291
Natural variant4921C → W in BBS13. Ref.10
VAR_062292

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 7, 2006. Version 2.
Checksum: 3E4EBFDAFA8FB39D

FASTA55964,528
        10         20         30         40         50         60 
MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD LIDLATFRPQ 

        70         80         90        100        110        120 
PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ SPLDYQYRQE ILKLENSGGK 

       130        140        150        160        170        180 
KNRRIFTYTD SDRYTNLEEH CQRMTTAASE VPSFLVERMA NVRRRRQDRR GMEGGILKSR 

       190        200        210        220        230        240 
IVTWEPSEEF VRNNHVINTP LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP 

       250        260        270        280        290        300 
DFTGLKGPYR IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG 

       310        320        330        340        350        360 
TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ LSGVTQTCTT 

       370        380        390        400        410        420 
KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE VLSLDFWQRY RVEGYGAVVL 

       430        440        450        460        470        480 
PATPGSHTLT VSTWRPVELG TVAELRRFFI GGSLELEDLS YVRIPGSFKG ERLSRFGLRT 

       490        500        510        520        530        540 
ETTGTVTFRL HCLQQSRAFM ESSSLQKRMR SVLDRLEGFS QQSSIHNVLE AFRRARRRMQ 

       550 
EARESLPQDL VSPSGTLVS 

« Hide

Isoform 2 [UniParc].

Checksum: 505F4279EB7A9E35
Show »

FASTA52059,869
Isoform 3 [UniParc].

Checksum: 6760801F0209F8A5
Show »

FASTA54963,344

References

« Hide 'large scale' references
[1]"MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome."
Kyttaelae M., Tallila J., Salonen R., Kopra O., Kohlschmidt N., Paavola-Sakki P., Peltonen L., Kestilae M.
Nat. Genet. 38:155-157(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN MKS1.
[2]"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. expand/collapse author list , 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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 86-559 (ISOFORM 1).
Tissue: Hepatoma and Trachea.
[3]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORM 2).
Tissue: Ovary.
[5]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 144-559 (ISOFORM 1).
[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: SUBCELLULAR LOCATION, FUNCTION, INTERACTION WITH TMEM67.
[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]"Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins."
Bialas N.J., Inglis P.N., Li C., Robinson J.F., Parker J.D., Healey M.P., Davis E.E., Inglis C.D., Toivonen T., Cottell D.C., Blacque O.E., Quarmby L.M., Katsanis N., Leroux M.R.
J. Cell Sci. 122:611-624(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[9]"A meckelin-filamin A interaction mediates ciliogenesis."
Adams M., Simms R.J., Abdelhamed Z., Dawe H.R., Szymanska K., Logan C.V., Wheway G., Pitt E., Gull K., Knowles M.A., Blair E., Cross S.H., Sayer J.A., Johnson C.A.
Hum. Mol. Genet. 21:1272-1286(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH FLNA.
[10]"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 BBS13 PHE-371 DEL AND TRP-492, VARIANTS GLN-123; GLY-286 AND THR-450.
[11]Erratum
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. 40:927-927(2008)
[12]"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: VARIANT MKS1 TRP-166.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
DQ185029 mRNA. Translation: AAZ94714.1.
AK000352 mRNA. Translation: BAA91105.1. Different initiation.
AK310815 mRNA. No translation available.
AC005962 Genomic DNA. No translation available.
BC010061 mRNA. Translation: AAH10061.1. Different initiation.
CR457229 mRNA. Translation: CAG33510.1.
CCDSCCDS11603.2. [Q9NXB0-1]
CCDS54148.1. [Q9NXB0-3]
RefSeqNP_001159399.1. NM_001165927.1. [Q9NXB0-3]
NP_060247.2. NM_017777.3. [Q9NXB0-1]
UniGeneHs.408843.

3D structure databases

ProteinModelPortalQ9NXB0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120249. 3 interactions.
IntActQ9NXB0. 2 interactions.
MINTMINT-1415211.
STRING9606.ENSP00000376827.

PTM databases

PhosphoSiteQ9NXB0.

Polymorphism databases

DMDM92087008.

Proteomic databases

MaxQBQ9NXB0.
PaxDbQ9NXB0.
PRIDEQ9NXB0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000393119; ENSP00000376827; ENSG00000011143. [Q9NXB0-1]
ENST00000537529; ENSP00000442096; ENSG00000011143. [Q9NXB0-3]
GeneID54903.
KEGGhsa:54903.
UCSCuc002ivr.2. human. [Q9NXB0-1]

Organism-specific databases

CTD54903.
GeneCardsGC17M056282.
GeneReviewsMKS1.
HGNCHGNC:7121. MKS1.
HPAHPA021372.
HPA021812.
MIM209900. phenotype.
249000. phenotype.
609883. gene.
neXtProtNX_Q9NXB0.
Orphanet110. Bardet-Biedl syndrome.
564. Meckel syndrome.
PharmGKBPA30840.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG306467.
HOGENOMHOG000251592.
HOVERGENHBG079759.
InParanoidQ9NXB0.
OMACATKSLG.
OrthoDBEOG73FQMN.
PhylomeDBQ9NXB0.
TreeFamTF323812.

Gene expression databases

ArrayExpressQ9NXB0.
BgeeQ9NXB0.
CleanExHS_MKS1.
GenevestigatorQ9NXB0.

Family and domain databases

InterProIPR010796. B9_dom.
[Graphical view]
PfamPF07162. B9-C2. 1 hit.
[Graphical view]
PROSITEPS51381. B9. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMKS1.
GenomeRNAi54903.
NextBio57936.
PROQ9NXB0.
SOURCESearch...

Entry information

Entry nameMKS1_HUMAN
AccessionPrimary (citable) accession number: Q9NXB0
Secondary accession number(s): B7WNX4 expand/collapse secondary AC list , F5H885, Q284T0, Q96G13
Entry history
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 7, 2006
Last modified: July 9, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM