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Q9UPM9 (B9D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 73. 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:
B9 domain-containing protein 1
Alternative name(s):
MKS1-related protein 1
Gene names
Name:B9D1
Synonyms:MKSR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length204 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript 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. Required for ciliogenesis and sonic hedgehog/SHH signaling By similarity.

Subunit structure

Part of the tectonic-like complex (also named B9 complex) By similarity.

Subcellular location

Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletoncilium axoneme. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme By similarity. Ref.3

Involvement in disease

Meckel syndrome 9 (MKS9) [MIM:614209]: 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.4

Sequence similarities

Belongs to the B9D family.

Contains 1 B9 domain.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
   Cellular componentCell projection
Cytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
Meckel syndrome
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcamera-type eye development

Inferred from electronic annotation. Source: Ensembl

cardiocyte differentiation

Inferred from electronic annotation. Source: Ensembl

cilium assembly

Inferred from sequence or structural similarity. Source: UniProtKB

cilium morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

embryonic digit morphogenesis

Inferred from electronic annotation. Source: Ensembl

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

neuroepithelial cell differentiation

Inferred from electronic annotation. Source: Ensembl

regulation of protein localization

Inferred from electronic annotation. Source: Ensembl

smoothened signaling pathway

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentTCTN-B9D complex

Inferred from sequence or structural similarity. Source: UniProtKB

centrosome

Inferred from direct assay Ref.3. Source: UniProtKB

ciliary basal body

Inferred from direct assay Ref.3. Source: UniProtKB

ciliary transition zone

Inferred from sequence or structural similarity. Source: UniProtKB

cytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

membrane

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionhedgehog receptor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UPM9-1)

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: Q9UPM9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     136-204: WFMGRRPEYT...GPSPPQSFPQ → LCLVASSDLQAAPPTEDK
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 204204B9 domain-containing protein 1
PRO_0000307667

Regions

Domain9 – 127119B9

Natural variations

Alternative sequence136 – 20469WFMGR…QSFPQ → LCLVASSDLQAAPPTEDK in isoform 2.
VSP_028770
Natural variant611R → W. Ref.4
Corresponds to variant rs73980038 [ dbSNP | Ensembl ].
VAR_066995

Sequences

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

Last modified May 1, 2000. Version 1.
Checksum: 6F09A3152F48CE42

FASTA20422,775
        10         20         30         40         50         60 
MATASPSVFL LMVNGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI SQITSKSQDV 

        70         80         90        100        110        120 
RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV RGYGAVHVPF SPGRHKRTIP 

       130        140        150        160        170        180 
MFVPESTSKL QKFTSWFMGR RPEYTDPKVV AQGEGREVTR VRSQGFVTLL FNVVTKDMRK 

       190        200 
LGYDTGPSDT QGVLGPSPPQ SFPQ 

« Hide

Isoform 2 [UniParc].

Checksum: 261E68117FADB3DB
Show »

FASTA15316,919

References

« Hide 'large scale' references
[1]"Human homologue for B9."
Miyashita H., Sato Y.
Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"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: Skin.
[3]"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.
[4]"B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis."
Hopp K., Heyer C.M., Hommerding C.J., Henke S.A., Sundsbak J.L., Patel S., Patel P., Consugar M.B., Czarnecki P.G., Gliem T.J., Torres V.E., Rossetti S., Harris P.C.
Hum. Mol. Genet. 20:2524-2534(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MKS9, VARIANT TRP-61.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB030506 mRNA. Translation: BAA82655.1.
BC002944 mRNA. Translation: AAH02944.1.
CCDSCCDS11205.1. [Q9UPM9-1]
RefSeqNP_056496.1. NM_015681.3. [Q9UPM9-1]
XP_005256666.1. XM_005256609.1. [Q9UPM9-2]
UniGeneHs.462445.

3D structure databases

ProteinModelPortalQ9UPM9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117986. 4 interactions.
IntActQ9UPM9. 1 interaction.
STRING9606.ENSP00000261499.

PTM databases

PhosphoSiteQ9UPM9.

Polymorphism databases

DMDM74725691.

Proteomic databases

MaxQBQ9UPM9.
PaxDbQ9UPM9.
PRIDEQ9UPM9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261499; ENSP00000261499; ENSG00000108641. [Q9UPM9-1]
ENST00000268841; ENSP00000268841; ENSG00000108641. [Q9UPM9-2]
GeneID27077.
KEGGhsa:27077.
UCSCuc002gvk.4. human. [Q9UPM9-1]

Organism-specific databases

CTD27077.
GeneCardsGC17M019244.
HGNCHGNC:24123. B9D1.
HPAHPA022957.
MIM614144. gene.
614209. phenotype.
neXtProtNX_Q9UPM9.
Orphanet564. Meckel syndrome.
PharmGKBPA162377328.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG271150.
HOGENOMHOG000038832.
HOVERGENHBG104431.
InParanoidQ9UPM9.
KOK16744.
OMAWPQLVVS.
PhylomeDBQ9UPM9.
TreeFamTF314883.

Gene expression databases

ArrayExpressQ9UPM9.
BgeeQ9UPM9.
CleanExHS_B9D1.
GenevestigatorQ9UPM9.

Family and domain databases

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

Other

GenomeRNAi27077.
NextBio49681.
PROQ9UPM9.
SOURCESearch...

Entry information

Entry nameB9D1_HUMAN
AccessionPrimary (citable) accession number: Q9UPM9
Secondary accession number(s): Q9BU22
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 73 of the entry and version 1 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