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Protein

B9 domain-containing protein 1

Gene

B9D1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

EuPathDBiHostDB:ENSG00000108641.14
HGNCiHGNC:24123 B9D1
MIMi614144 gene
neXtProtiNX_Q9UPM9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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:rs771170000EnsemblClinVar.1
Natural variantiVAR_076975156R → Q in JBTS27. 1 PublicationCorresponds to variant dbSNP:rs886038205Ensembl.1
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

EPDiQ9UPM9
PaxDbiQ9UPM9
PeptideAtlasiQ9UPM9
PRIDEiQ9UPM9
ProteomicsDBi85380
85381 [Q9UPM9-2]

PTM databases

iPTMnetiQ9UPM9
PhosphoSitePlusiQ9UPM9

Expressioni

Gene expression databases

BgeeiENSG00000108641 Expressed in 182 organ(s), highest expression level in right uterine tube
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, 28 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

This entry has 2 described isoforms and 15 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MTX4A8MTX4_HUMAN
B9 domain-containing protein 1
B9D1
161Annotation score:
A8MYG7A8MYG7_HUMAN
B9 domain-containing protein 1
B9D1
187Annotation score:
A0A0B4J223A0A0B4J223_HUMAN
B9 domain-containing protein 1
B9D1
186Annotation score:
A0A2R8Y646A0A2R8Y646_HUMAN
B9 domain-containing protein 1
B9D1
183Annotation score:
A0A2R8YFJ1A0A2R8YFJ1_HUMAN
B9 domain-containing protein 1
B9D1
125Annotation score:
A0A2R8Y5M4A0A2R8Y5M4_HUMAN
B9 domain-containing protein 1
B9D1
135Annotation score:
H7C3B7H7C3B7_HUMAN
B9 domain-containing protein 1
B9D1
133Annotation score:
I3L2R1I3L2R1_HUMAN
B9 domain-containing protein 1
B9D1
147Annotation score:
I3L435I3L435_HUMAN
B9 domain-containing protein 1
B9D1
213Annotation score:
I3L126I3L126_HUMAN
B9 domain-containing protein 1
B9D1
153Annotation score:
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07697432Y → C in JBTS27. 1 PublicationCorresponds to variant dbSNP:rs771170000EnsemblClinVar.1
Natural variantiVAR_07570051S → P1 PublicationCorresponds to variant dbSNP:rs546359789Ensembl.1
Natural variantiVAR_06699561R → W1 PublicationCorresponds to variant dbSNP:rs73980038EnsemblClinVar.1
Natural variantiVAR_076975156R → Q in JBTS27. 1 PublicationCorresponds to variant dbSNP:rs886038205Ensembl.1
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: September 12, 2018
This is version 108 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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