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Q9UPM9

- B9D1_HUMAN

UniProt

Q9UPM9 - B9D1_HUMAN

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Protein

B9 domain-containing protein 1

Gene

B9D1

Organism
Homo sapiens (Human)
Status
Reviewed - 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. regulation of protein localization Source: Ensembl
  8. smoothened signaling pathway Source: UniProtKB
  9. vasculature development Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

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: 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. cytoplasm Source: UniProtKB-KW
  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) [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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

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. 6 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.
OMAiWPQLVVS.
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. Align

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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
Links Updated
AB030506 mRNA. Translation: BAA82655.1 .
BC002944 mRNA. Translation: AAH02944.1 .
CCDSi CCDS11205.1. [Q9UPM9-1 ]
RefSeqi NP_056496.1. NM_015681.3. [Q9UPM9-1 ]
XP_005256666.1. XM_005256609.1. [Q9UPM9-2 ]
UniGenei Hs.462445.

3D structure databases

ProteinModelPortali Q9UPM9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117986. 6 interactions.
IntActi Q9UPM9. 1 interaction.
STRINGi 9606.ENSP00000261499.

PTM databases

PhosphoSitei Q9UPM9.

Polymorphism databases

DMDMi 74725691.

Proteomic databases

MaxQBi Q9UPM9.
PaxDbi Q9UPM9.
PRIDEi Q9UPM9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261499 ; ENSP00000261499 ; ENSG00000108641 . [Q9UPM9-1 ]
ENST00000268841 ; ENSP00000268841 ; ENSG00000108641 . [Q9UPM9-2 ]
GeneIDi 27077.
KEGGi hsa:27077.
UCSCi uc002gvk.4. human. [Q9UPM9-1 ]

Organism-specific databases

CTDi 27077.
GeneCardsi GC17M019244.
HGNCi HGNC:24123. B9D1.
HPAi HPA022957.
MIMi 614144. gene.
614209. phenotype.
neXtProti NX_Q9UPM9.
Orphaneti 475. Joubert syndrome.
564. Meckel syndrome.
PharmGKBi PA162377328.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG271150.
GeneTreei ENSGT00530000063756.
HOGENOMi HOG000038832.
HOVERGENi HBG104431.
InParanoidi Q9UPM9.
KOi K16744.
OMAi WPQLVVS.
PhylomeDBi Q9UPM9.
TreeFami TF314883.

Miscellaneous databases

GenomeRNAii 27077.
NextBioi 49681.
PROi Q9UPM9.
SOURCEi Search...

Gene expression databases

Bgeei Q9UPM9.
CleanExi HS_B9D1.
ExpressionAtlasi Q9UPM9. baseline and differential.
Genevestigatori Q9UPM9.

Family and domain databases

InterProi IPR010796. B9_dom.
[Graphical view ]
Pfami PF07162. B9-C2. 1 hit.
[Graphical view ]
PROSITEi PS51381. B9. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

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: October 29, 2014
This is version 75 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