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Protein

B9 domain-containing protein 1

Gene

B9D1

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

Functioni

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).By similarity

GO - Molecular functioni

  1. hedgehog receptor activity Source: UniProtKB

GO - Biological processi

  1. camera-type eye development Source: Ensembl
  2. cilium assembly Source: UniProtKB
  3. cilium morphogenesis Source: UniProtKB
  4. embryonic digit morphogenesis Source: Ensembl
  5. in utero embryonic development Source: Ensembl
  6. neuroepithelial cell differentiation Source: Ensembl
  7. organelle organization Source: Reactome
  8. regulation of protein localization Source: Ensembl
  9. smoothened signaling pathway Source: UniProtKB
  10. vasculature development Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiREACT_267965. Anchoring of the basal body to the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
B9 domain-containing protein 1
Alternative name(s):
MKS1-related protein 1
Gene namesi
Name:B9D1
Synonyms:MKSR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:24123. B9D1.

Subcellular locationi

Cytoplasmcytoskeletoncilium basal body 1 Publication. Cytoplasmcytoskeletoncilium axoneme 1 Publication
Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme.By similarity

GO - Cellular componenti

  1. centrosome Source: UniProtKB
  2. ciliary basal body Source: UniProtKB
  3. ciliary transition zone Source: UniProtKB
  4. cytosol Source: Reactome
  5. membrane Source: Ensembl
  6. TCTN-B9D complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Meckel syndrome 9 (MKS9)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.

See also OMIM:614209

Keywords - Diseasei

Ciliopathy, Meckel syndrome

Organism-specific databases

MIMi614209. phenotype.
Orphaneti475. Joubert syndrome.
564. Meckel syndrome.
PharmGKBiPA162377328.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 204204B9 domain-containing protein 1PRO_0000307667Add
BLAST

Proteomic databases

MaxQBiQ9UPM9.
PaxDbiQ9UPM9.
PRIDEiQ9UPM9.

PTM databases

PhosphoSiteiQ9UPM9.

Expressioni

Gene expression databases

BgeeiQ9UPM9.
CleanExiHS_B9D1.
ExpressionAtlasiQ9UPM9. baseline and differential.
GenevestigatoriQ9UPM9.

Organism-specific databases

HPAiHPA022957.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi117986. 5 interactions.
IntActiQ9UPM9. 1 interaction.
STRINGi9606.ENSP00000261499.

Structurei

3D structure databases

ProteinModelPortaliQ9UPM9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini9 – 127119B9PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the B9D family.Curated
Contains 1 B9 domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG271150.
GeneTreeiENSGT00530000063756.
HOGENOMiHOG000038832.
HOVERGENiHBG104431.
InParanoidiQ9UPM9.
KOiK16744.
OMAiMINGMES.
PhylomeDBiQ9UPM9.
TreeFamiTF314883.

Family and domain databases

InterProiIPR010796. B9_dom.
[Graphical view]
PfamiPF07162. B9-C2. 1 hit.
[Graphical view]
PROSITEiPS51381. B9. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UPM9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MATASPSVFL LMVNGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI
60 70 80 90 100
SQITSKSQDV RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV
110 120 130 140 150
RGYGAVHVPF SPGRHKRTIP MFVPESTSKL QKFTSWFMGR RPEYTDPKVV
160 170 180 190 200
AQGEGREVTR VRSQGFVTLL FNVVTKDMRK LGYDTGPSDT QGVLGPSPPQ

SFPQ
Length:204
Mass (Da):22,775
Last modified:May 1, 2000 - v1
Checksum:i6F09A3152F48CE42
GO
Isoform 2 (identifier: Q9UPM9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     136-204: WFMGRRPEYT...GPSPPQSFPQ → LCLVASSDLQAAPPTEDK

Note: No experimental confirmation available.

Show »
Length:153
Mass (Da):16,919
Checksum:i261E68117FADB3DB
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti61 – 611R → W.1 Publication
Corresponds to variant rs73980038 [ dbSNP | Ensembl ].
VAR_066995

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei136 – 20469WFMGR…QSFPQ → LCLVASSDLQAAPPTEDK in isoform 2. 1 PublicationVSP_028770Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB030506 mRNA. Translation: BAA82655.1.
BC002944 mRNA. Translation: AAH02944.1.
CCDSiCCDS11205.1. [Q9UPM9-1]
RefSeqiNP_056496.1. NM_015681.3. [Q9UPM9-1]
XP_005256666.1. XM_005256609.1. [Q9UPM9-2]
UniGeneiHs.462445.

Genome annotation databases

EnsembliENST00000261499; ENSP00000261499; ENSG00000108641. [Q9UPM9-1]
ENST00000268841; ENSP00000268841; ENSG00000108641. [Q9UPM9-2]
GeneIDi27077.
KEGGihsa:27077.
UCSCiuc002gvk.4. human. [Q9UPM9-1]

Polymorphism databases

DMDMi74725691.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB030506 mRNA. Translation: BAA82655.1.
BC002944 mRNA. Translation: AAH02944.1.
CCDSiCCDS11205.1. [Q9UPM9-1]
RefSeqiNP_056496.1. NM_015681.3. [Q9UPM9-1]
XP_005256666.1. XM_005256609.1. [Q9UPM9-2]
UniGeneiHs.462445.

3D structure databases

ProteinModelPortaliQ9UPM9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117986. 5 interactions.
IntActiQ9UPM9. 1 interaction.
STRINGi9606.ENSP00000261499.

PTM databases

PhosphoSiteiQ9UPM9.

Polymorphism databases

DMDMi74725691.

Proteomic databases

MaxQBiQ9UPM9.
PaxDbiQ9UPM9.
PRIDEiQ9UPM9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261499; ENSP00000261499; ENSG00000108641. [Q9UPM9-1]
ENST00000268841; ENSP00000268841; ENSG00000108641. [Q9UPM9-2]
GeneIDi27077.
KEGGihsa:27077.
UCSCiuc002gvk.4. human. [Q9UPM9-1]

Organism-specific databases

CTDi27077.
GeneCardsiGC17M019244.
HGNCiHGNC:24123. B9D1.
HPAiHPA022957.
MIMi614144. gene.
614209. phenotype.
neXtProtiNX_Q9UPM9.
Orphaneti475. Joubert syndrome.
564. Meckel syndrome.
PharmGKBiPA162377328.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG271150.
GeneTreeiENSGT00530000063756.
HOGENOMiHOG000038832.
HOVERGENiHBG104431.
InParanoidiQ9UPM9.
KOiK16744.
OMAiMINGMES.
PhylomeDBiQ9UPM9.
TreeFamiTF314883.

Enzyme and pathway databases

ReactomeiREACT_267965. Anchoring of the basal body to the plasma membrane.

Miscellaneous databases

GenomeRNAii27077.
NextBioi49681.
PROiQ9UPM9.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UPM9.
CleanExiHS_B9D1.
ExpressionAtlasiQ9UPM9. baseline and differential.
GenevestigatoriQ9UPM9.

Family and domain databases

InterProiIPR010796. B9_dom.
[Graphical view]
PfamiPF07162. B9-C2. 1 hit.
[Graphical view]
PROSITEiPS51381. B9. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Human homologue for B9."
    Miyashita H., Sato Y.
    Submitted (JUN-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(2003) [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(2008) [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(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MKS9, VARIANT TRP-61.

Entry informationi

Entry nameiB9D1_HUMAN
AccessioniPrimary (citable) accession number: Q9UPM9
Secondary accession number(s): Q9BU22
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 1, 2000
Last modified: April 1, 2015
This is version 78 of the entry and version 1 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 17
    Human chromosome 17: 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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.