B9D1_HUMAN
ID B9D1_HUMAN Reviewed; 204 AA.
AC Q9UPM9; Q9BU22;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=B9 domain-containing protein 1;
DE AltName: Full=MKS1-related protein 1;
GN Name=B9D1; Synonyms=MKSR1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Miyashita H., Sato Y.;
RT "Human homologue for B9.";
RL Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP SUBCELLULAR LOCATION.
RX PubMed=19208769; DOI=10.1242/jcs.028621;
RA Bialas N.J., Inglis P.N., Li C., Robinson J.F., Parker J.D., Healey M.P.,
RA Davis E.E., Inglis C.D., Toivonen T., Cottell D.C., Blacque O.E.,
RA Quarmby L.M., Katsanis N., Leroux M.R.;
RT "Functional interactions between the ciliopathy-associated Meckel syndrome
RT 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.";
RL J. Cell Sci. 122:611-624(2009).
RN [4]
RP INVOLVEMENT IN MKS9, AND VARIANT TRP-61.
RX PubMed=21493627; DOI=10.1093/hmg/ddr151;
RA Hopp K., Heyer C.M., Hommerding C.J., Henke S.A., Sundsbak J.L., Patel S.,
RA Patel P., Consugar M.B., Czarnecki P.G., Gliem T.J., Torres V.E.,
RA Rossetti S., Harris P.C.;
RT "B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-
RT enriched next-generation sequencing and deletion analysis.";
RL Hum. Mol. Genet. 20:2524-2534(2011).
RN [5]
RP INVOLVEMENT IN JBTS27, AND VARIANTS JBTS27 CYS-32; GLN-156 AND VAL-174 DEL.
RX PubMed=24886560; DOI=10.1186/1750-1172-9-72;
RA Romani M., Micalizzi A., Kraoua I., Dotti M.T., Cavallin M., Sztriha L.,
RA Ruta R., Mancini F., Mazza T., Castellana S., Hanene B., Carluccio M.A.,
RA Darra F., Mate A., Zimmermann A., Gouider-Khouja N., Valente E.M.;
RT "Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the
RT genetic overlap with the lethal ciliopathy Meckel syndrome.";
RL Orphanet J. Rare Dis. 9:72-72(2014).
RN [6]
RP VARIANT PRO-51.
RX PubMed=26477546; DOI=10.1016/j.ajhg.2015.09.009;
RG Care4Rare Canada Consortium;
RA Srour M., Hamdan F.F., McKnight D., Davis E., Mandel H.,
RA Schwartzentruber J., Martin B., Patry L., Nassif C., Dionne-Laporte A.,
RA Ospina L.H., Lemyre E., Massicotte C., Laframboise R., Maranda B.,
RA Labuda D., Decarie J.C., Rypens F., Goldsher D., Fallet-Bianco C.,
RA Soucy J.F., Laberge A.M., Maftei C., Boycott K., Brais B., Boucher R.M.,
RA Rouleau G.A., Katsanis N., Majewski J., Elpeleg O., Kukolich M.K.,
RA Shalev S., Michaud J.L.;
RT "Joubert Syndrome in French Canadians and Identification of Mutations in
RT CEP104.";
RL Am. J. Hum. Genet. 97:744-753(2015).
CC -!- FUNCTION: Component of the tectonic-like complex, a complex localized
CC at the transition zone of primary cilia and acting as a barrier that
CC prevents diffusion of transmembrane proteins between the cilia and
CC plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH
CC signaling (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Part of the tectonic-like complex (also named B9 complex).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q9UPM9; Q9BPU9: B9D2; NbExp=5; IntAct=EBI-372535, EBI-6958971;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000269|PubMed:19208769}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:19208769}. Note=Localizes at the transition zone, a
CC region between the basal body and the ciliary axoneme. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UPM9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UPM9-2; Sequence=VSP_028770;
CC -!- DISEASE: Meckel syndrome 9 (MKS9) [MIM:614209]: A disorder
CC characterized by a combination of renal cysts and variably associated
CC features including developmental anomalies of the central nervous
CC system (typically encephalocele), hepatic ductal dysplasia and cysts,
CC and polydactyly. {ECO:0000269|PubMed:21493627}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- DISEASE: Joubert syndrome 27 (JBTS27) [MIM:617120]: A form of Joubert
CC syndrome, a disorder presenting with cerebellar ataxia, oculomotor
CC apraxia, hypotonia, neonatal breathing abnormalities and psychomotor
CC delay. Neuroradiologically, it is characterized by cerebellar vermian
CC hypoplasia/aplasia, thickened and reoriented superior cerebellar
CC peduncles, and an abnormally large interpeduncular fossa, giving the
CC appearance of a molar tooth on transaxial slices (molar tooth sign).
CC Additional variable features include retinal dystrophy, renal disease,
CC liver fibrosis, and polydactyly. JBTS27 inheritance is autosomal
CC recessive. {ECO:0000269|PubMed:24886560}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the B9D family. {ECO:0000305}.
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DR EMBL; AB030506; BAA82655.1; -; mRNA.
DR EMBL; BC002944; AAH02944.1; -; mRNA.
DR CCDS; CCDS11205.1; -. [Q9UPM9-1]
DR CCDS; CCDS82089.1; -. [Q9UPM9-2]
DR RefSeq; NP_001308145.1; NM_001321216.1. [Q9UPM9-2]
DR RefSeq; NP_001308147.1; NM_001321218.1.
DR RefSeq; NP_001308148.1; NM_001321219.1.
DR RefSeq; NP_056496.1; NM_015681.4. [Q9UPM9-1]
DR RefSeq; XP_016879941.1; XM_017024452.1.
DR AlphaFoldDB; Q9UPM9; -.
DR BioGRID; 117986; 35.
DR IntAct; Q9UPM9; 21.
DR STRING; 9606.ENSP00000261499; -.
DR iPTMnet; Q9UPM9; -.
DR PhosphoSitePlus; Q9UPM9; -.
DR BioMuta; B9D1; -.
DR DMDM; 74725691; -.
DR EPD; Q9UPM9; -.
DR jPOST; Q9UPM9; -.
DR MassIVE; Q9UPM9; -.
DR MaxQB; Q9UPM9; -.
DR PaxDb; Q9UPM9; -.
DR PeptideAtlas; Q9UPM9; -.
DR PRIDE; Q9UPM9; -.
DR ProteomicsDB; 85380; -. [Q9UPM9-1]
DR ProteomicsDB; 85381; -. [Q9UPM9-2]
DR Antibodypedia; 13647; 80 antibodies from 22 providers.
DR DNASU; 27077; -.
DR Ensembl; ENST00000261499.11; ENSP00000261499.4; ENSG00000108641.20. [Q9UPM9-1]
DR Ensembl; ENST00000268841.10; ENSP00000268841.6; ENSG00000108641.20. [Q9UPM9-2]
DR GeneID; 27077; -.
DR KEGG; hsa:27077; -.
DR MANE-Select; ENST00000261499.11; ENSP00000261499.4; NM_015681.6; NP_056496.1.
DR UCSC; uc002gvk.5; human. [Q9UPM9-1]
DR CTD; 27077; -.
DR DisGeNET; 27077; -.
DR GeneCards; B9D1; -.
DR GeneReviews; B9D1; -.
DR HGNC; HGNC:24123; B9D1.
DR HPA; ENSG00000108641; Low tissue specificity.
DR MalaCards; B9D1; -.
DR MIM; 614144; gene.
DR MIM; 614209; phenotype.
DR MIM; 617120; phenotype.
DR neXtProt; NX_Q9UPM9; -.
DR OpenTargets; ENSG00000108641; -.
DR Orphanet; 475; Joubert syndrome.
DR Orphanet; 564; Meckel syndrome.
DR PharmGKB; PA162377328; -.
DR VEuPathDB; HostDB:ENSG00000108641; -.
DR eggNOG; KOG4027; Eukaryota.
DR GeneTree; ENSGT00940000160079; -.
DR InParanoid; Q9UPM9; -.
DR OMA; GWPQILV; -.
DR OrthoDB; 1387644at2759; -.
DR PhylomeDB; Q9UPM9; -.
DR TreeFam; TF314883; -.
DR PathwayCommons; Q9UPM9; -.
DR Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane.
DR SignaLink; Q9UPM9; -.
DR BioGRID-ORCS; 27077; 10 hits in 1083 CRISPR screens.
DR GenomeRNAi; 27077; -.
DR Pharos; Q9UPM9; Tbio.
DR PRO; PR:Q9UPM9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9UPM9; protein.
DR Bgee; ENSG00000108641; Expressed in right uterine tube and 143 other tissues.
DR ExpressionAtlas; Q9UPM9; baseline and differential.
DR Genevisible; Q9UPM9; HS.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0035869; C:ciliary transition zone; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0016020; C:membrane; IEA:Ensembl.
DR GO; GO:0036038; C:MKS complex; ISS:UniProtKB.
DR GO; GO:0008158; F:hedgehog receptor activity; ISS:UniProtKB.
DR GO; GO:0043010; P:camera-type eye development; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IEA:Ensembl.
DR GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
DR GO; GO:0060563; P:neuroepithelial cell differentiation; IEA:Ensembl.
DR GO; GO:0032880; P:regulation of protein localization; IEA:Ensembl.
DR GO; GO:0007224; P:smoothened signaling pathway; ISS:UniProtKB.
DR GO; GO:0001944; P:vasculature development; IEA:Ensembl.
DR InterPro; IPR010796; C2_B9-type_dom.
DR PANTHER; PTHR12968; PTHR12968; 1.
DR Pfam; PF07162; B9-C2; 1.
DR PROSITE; PS51381; C2_B9; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Disease variant;
KW Joubert syndrome; Meckel syndrome; Reference proteome.
FT CHAIN 1..204
FT /note="B9 domain-containing protein 1"
FT /id="PRO_0000307667"
FT DOMAIN 9..127
FT /note="C2 B9-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00713"
FT REGION 182..204
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 136..204
FT /note="WFMGRRPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTKDMRKLGYDTGP
FT SDTQGVLGPSPPQSFPQ -> LCLVASSDLQAAPPTEDK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028770"
FT VARIANT 32
FT /note="Y -> C (in JBTS27; dbSNP:rs771170000)"
FT /evidence="ECO:0000269|PubMed:24886560"
FT /id="VAR_076974"
FT VARIANT 51
FT /note="S -> P (in dbSNP:rs546359789)"
FT /evidence="ECO:0000269|PubMed:26477546"
FT /id="VAR_075700"
FT VARIANT 61
FT /note="R -> W (in dbSNP:rs73980038)"
FT /evidence="ECO:0000269|PubMed:21493627"
FT /id="VAR_066995"
FT VARIANT 156
FT /note="R -> Q (in JBTS27; dbSNP:rs886038205)"
FT /evidence="ECO:0000269|PubMed:24886560"
FT /id="VAR_076975"
FT VARIANT 174
FT /note="Missing (in JBTS27; dbSNP:rs886038206)"
FT /evidence="ECO:0000269|PubMed:24886560"
FT /id="VAR_076976"
SQ SEQUENCE 204 AA; 22775 MW; 6F09A3152F48CE42 CRC64;
MATASPSVFL LMVNGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI SQITSKSQDV
RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV RGYGAVHVPF SPGRHKRTIP
MFVPESTSKL QKFTSWFMGR RPEYTDPKVV AQGEGREVTR VRSQGFVTLL FNVVTKDMRK
LGYDTGPSDT QGVLGPSPPQ SFPQ
