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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 protein 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

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5620912. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:24123. B9D1.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • ciliary transition zone Source: UniProtKB
  • cytosol Source: Reactome
  • membrane Source: Ensembl
  • MKS complex Source: UniProtKB

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
Joubert syndrome 27 (JBTS27)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Joubert syndrome, a 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, renal disease, liver fibrosis, and polydactyly. JBTS27 inheritance is autosomal recessive.
See also OMIM:617120
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07697432Y → C in JBTS27. 1 PublicationCorresponds to variant dbSNP:rs771170000Ensembl.1
Natural variantiVAR_076975156R → Q in JBTS27. 1 Publication1
Natural variantiVAR_076976174Missing in JBTS27. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

DisGeNETi27077.
MalaCardsiB9D1.
MIMi614209. phenotype.
617120. phenotype.
OpenTargetsiENSG00000108641.
Orphaneti475. Joubert syndrome.
564. Meckel syndrome.
PharmGKBiPA162377328.

Polymorphism and mutation databases

BioMutaiB9D1.
DMDMi74725691.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003076671 – 204B9 domain-containing protein 1Add BLAST204

Proteomic databases

PaxDbiQ9UPM9.
PeptideAtlasiQ9UPM9.
PRIDEiQ9UPM9.

PTM databases

iPTMnetiQ9UPM9.
PhosphoSitePlusiQ9UPM9.

Expressioni

Gene expression databases

BgeeiENSG00000108641.
CleanExiHS_B9D1.
ExpressionAtlasiQ9UPM9. baseline and differential.
GenevisibleiQ9UPM9. HS.

Organism-specific databases

HPAiHPA022957.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi117986. 27 interactors.
IntActiQ9UPM9. 20 interactors.
STRINGi9606.ENSP00000261499.

Structurei

3D structure databases

ProteinModelPortaliQ9UPM9.
SMRiQ9UPM9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini9 – 127B9PROSITE-ProRule annotationAdd BLAST119

Sequence similaritiesi

Belongs to the B9D family.Curated

Phylogenomic databases

eggNOGiKOG4027. Eukaryota.
ENOG410XP62. LUCA.
GeneTreeiENSGT00530000063756.
HOGENOMiHOG000038832.
HOVERGENiHBG104431.
InParanoidiQ9UPM9.
KOiK16744.
OMAiGHFNEPI.
PhylomeDBiQ9UPM9.
TreeFamiTF314883.

Family and domain databases

InterProiView protein in InterPro
IPR010796. B9_dom.
PANTHERiPTHR12968. PTHR12968. 1 hit.
PfamiView protein in Pfam
PF07162. B9-C2. 1 hit.
PROSITEiView protein in PROSITE
PS51381. B9. 1 hit.

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_07697432Y → C in JBTS27. 1 PublicationCorresponds to variant dbSNP:rs771170000Ensembl.1
Natural variantiVAR_07570051S → P1 PublicationCorresponds to variant dbSNP:rs546359789Ensembl.1
Natural variantiVAR_06699561R → W1 PublicationCorresponds to variant dbSNP:rs73980038Ensembl.1
Natural variantiVAR_076975156R → Q in JBTS27. 1 Publication1
Natural variantiVAR_076976174Missing in JBTS27. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_028770136 – 204WFMGR…QSFPQ → LCLVASSDLQAAPPTEDK in isoform 2. 1 PublicationAdd BLAST69

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]
CCDS82089.1. [Q9UPM9-2]
RefSeqiNP_001308145.1. NM_001321216.1. [Q9UPM9-2]
NP_001308147.1. NM_001321218.1.
NP_001308148.1. NM_001321219.1.
NP_056496.1. NM_015681.4. [Q9UPM9-1]
XP_016879941.1. XM_017024452.1. [Q9UPM9-2]
UniGeneiHs.309467.
Hs.462445.
Hs.731662.

Genome annotation databases

EnsembliENST00000261499; ENSP00000261499; ENSG00000108641. [Q9UPM9-1]
ENST00000268841; ENSP00000268841; ENSG00000108641. [Q9UPM9-2]
GeneIDi27077.
KEGGihsa:27077.
UCSCiuc002gvk.5. human. [Q9UPM9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiB9D1_HUMAN
AccessioniPrimary (citable) accession number: Q9UPM9
Secondary accession number(s): Q9BU22
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 1, 2000
Last modified: August 30, 2017
This is version 99 of the entry and version 1 of the sequence. See 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