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

Gene ID: 27077, updated on 8-Jul-2021

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
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Genomic context

See B9D1 in Genome Data Viewer
Location:
17p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (19334695..19377913, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19238008..19281226, 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
enables hedgehog receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuroepithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein localization IEA
Inferred from Electronic Annotation
more info
 
involved_in smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in vasculature development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of MKS complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary transition zone ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in 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)

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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
    20471..40019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_686

mRNA and Protein(s)

  1. 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
  2. NM_001321215.3NP_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
  3. 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
  4. 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
  5. 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
  6. 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
    Related
    ENSP00000501817.1, ENST00000675510.1
    Conserved Domains (1) summary
    pfam07162
    Location:17139
    B9-C2; Ciliary basal body-associated, B9 protein
  7. NM_001330149.2NP_001317078.1  B9 domain-containing protein 1 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC124066, BM129815, HY047032
    Consensus CDS
    CCDS82088.1
    UniProtKB/TrEMBL
    A8MTX4
    Conserved Domains (1) summary
    pfam07162
    Location:17157
    B9-C2; Ciliary basal body-associated, B9 protein
  8. 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
  9. NM_015681.6NP_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)
    AC124066
    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 109.20210514

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_001243473.2: Suppressed sequence

    Description
    NM_001243473.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.
  2. 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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