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    B9D1 B9 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 27077, updated on 20-Dec-2019

    Summary

    Official Symbol
    B9D1provided by HGNC
    Official Full Name
    B9 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:24123
    See related
    Ensembl:ENSG00000108641 MIM:614144
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B9; MKS9; EPPB9; MKSR1; JBTS27; MKSR-1
    Summary
    This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in brain (RPKM 7.5), testis (RPKM 6.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See B9D1 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (19334695..19377913, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19240563..19281495, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene epsin 2 Neighboring gene EPN2 intronic transcript 1 Neighboring gene EPN2 antisense RNA 1 Neighboring gene microRNA 1180 Neighboring gene uncharacterized LOC105371573 Neighboring gene mitogen-activated protein kinase 7 Neighboring gene microfibril associated protein 4 Neighboring gene ring finger protein 112

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hedgehog receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    ciliary basal body-plasma membrane docking TAS
    Traceable Author Statement
    more info
     
    cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    neuroepithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary transition zone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    B9 domain-containing protein 1
    Names
    B9 protein domain 1
    MKS1-related protein 1
    endothelial precursor protein B9

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031885.2 RefSeqGene

      Range
      5012..45640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243473.2NP_001230402.1  B9 domain-containing protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AC124066, AK293815, AK297782, HY047032
      UniProtKB/TrEMBL
      B4DEW0, B4DN64
    2. NM_001321214.2NP_001308143.1  B9 domain-containing protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AK293815, BI833202, HY047032
      Consensus CDS
      CCDS82087.1
      UniProtKB/TrEMBL
      A8MYG7, B4DEW0
      Related
      ENSP00000378978.3, ENST00000395616.7
      Conserved Domains (1) summary
      pfam07162
      Location:17157
      B9-C2; Ciliary basal body-associated, B9 protein
    3. NM_001321215.2NP_001308144.1  B9 domain-containing protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC124066, AK293815, HY047032
      Consensus CDS
      CCDS86584.1
      UniProtKB/TrEMBL
      B4DEW0
      Related
      ENSP00000495045.1, ENST00000647252.1
      Conserved Domains (1) summary
      pfam07162
      Location:17158
      B9-C2; Ciliary basal body-associated, B9 protein
    4. NM_001321216.2NP_001308145.1  B9 domain-containing protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      BC002944, HY047032
      Consensus CDS
      CCDS82089.1
      UniProtKB/Swiss-Prot
      Q9UPM9
      Related
      ENSP00000268841.6, ENST00000268841.10
      Conserved Domains (1) summary
      pfam07162
      Location:17135
      B9-C2; Ciliary basal body-associated, B9 protein
    5. NM_001321217.2NP_001308146.1  B9 domain-containing protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC124066, HY047032
      Consensus CDS
      CCDS82086.1
      UniProtKB/TrEMBL
      A0A0B4J223
      Related
      ENSP00000433359.2, ENST00000461069.6
      Conserved Domains (1) summary
      pfam07162
      Location:17157
      B9-C2; Ciliary basal body-associated, B9 protein
    6. NM_001321218.2NP_001308147.1  B9 domain-containing protein 1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AB030506, AC124066, CA312151, HY047032
      UniProtKB/Swiss-Prot
      Q9UPM9
      Related
      ENSP00000499690.1, ENST00000671102.1
      Conserved Domains (1) summary
      pfam07162
      Location:17159
      B9-C2; Ciliary basal body-associated, B9 protein
    7. NM_001321219.2NP_001308148.1  B9 domain-containing protein 1 isoform i

      Status: REVIEWED

      Source sequence(s)
      AB030506, AC124066, CA312151, HY047032
      UniProtKB/Swiss-Prot
      Q9UPM9
      Conserved Domains (1) summary
      pfam07162
      Location:17139
      B9-C2; Ciliary basal body-associated, B9 protein
    8. NM_001330149.1NP_001317078.1  B9 domain-containing protein 1 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC124066, BM129815, HY047032
      Consensus CDS
      CCDS82088.1
      UniProtKB/TrEMBL
      A8MTX4
      Related
      ENSP00000378977.1, ENST00000395615.6
      Conserved Domains (1) summary
      pfam07162
      Location:17157
      B9-C2; Ciliary basal body-associated, B9 protein
    9. NM_001368769.2NP_001355698.1  B9 domain-containing protein 1 isoform k

      Status: REVIEWED

      Source sequence(s)
      AC124066, AK309320
      Related
      ENSP00000463165.2, ENST00000582857.2
      Conserved Domains (1) summary
      pfam07162
      Location:139
      B9-C2; Ciliary basal body-associated, B9 protein
    10. NM_015681.5NP_056496.1  B9 domain-containing protein 1 isoform b

      See identical proteins and their annotated locations for NP_056496.1

      Status: REVIEWED

      Source sequence(s)
      AB030506, AK293815, HY047032
      Consensus CDS
      CCDS11205.1
      UniProtKB/Swiss-Prot
      Q9UPM9
      UniProtKB/TrEMBL
      B4DEW0
      Related
      ENSP00000261499.4, ENST00000261499.10
      Conserved Domains (1) summary
      pfam07162
      Location:17173
      B9-C2; Ciliary basal body-associated, B9 protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      19334695..19377913 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256610.2XP_005256667.1  B9 domain-containing protein 1 isoform X1

      Related
      ENSP00000410835.1, ENST00000440841.1
      Conserved Domains (1) summary
      pfam07162
      Location:17135
      B9-C2; Ciliary basal body-associated, B9 protein

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001243475.2: Suppressed sequence

      Description
      NM_001243475.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.
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