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    Fam149b family with sequence similarity 149, member B [ Mus musculus (house mouse) ]

    Gene ID: 105428, updated on 3-Apr-2024

    Summary

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    Official Symbol
    Fam149bprovided by MGI
    Official Full Name
    family with sequence similarity 149, member Bprovided by MGI
    Primary source
    MGI:MGI:2145567
    See related
    Ensembl:ENSMUSG00000039599 AllianceGenome:MGI:2145567
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fam149b1; mKIAA0974
    Summary
    Predicted to be involved in cilium assembly and protein localization to cilium. Predicted to act upstream of or within cell projection organization. Predicted to be located in cilium. Human ortholog(s) of this gene implicated in Joubert syndrome. Orthologous to human FAM149B1 (family with sequence similarity 149 member B1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 11.2), CNS E14 (RPKM 7.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fam149b in Genome Data Viewer
    Location:
    14 A3; 14 11.52 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (20398221..20433559)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (20348158..20383491)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1470 Neighboring gene nudix hydrolase 13 Neighboring gene ecdysoneless cell cycle regulator Neighboring gene STARR-seq mESC enhancer starr_36108 Neighboring gene STARR-positive B cell enhancer ABC_E7295 Neighboring gene predicted gene, 30054 Neighboring gene STARR-positive B cell enhancer ABC_E7296 Neighboring gene STARR-positive B cell enhancer ABC_E11564 Neighboring gene STARR-positive B cell enhancer ABC_E3105 Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 Neighboring gene mitochondrial ribosomal protein S16

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function. Gehman LT, et al. Genes Dev, 2012 Mar 1. PMID 22357600, Free PMC Article
    2. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295
    3. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    4. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC32264

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    primary cilium assembly protein FAM149B1
    Names
    protein FAM149B1

    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.

    mRNA and Protein(s)

    1. NM_001024512.3 → NP_001019683.1  primary cilium assembly protein FAM149B1 isoform 1

      See identical proteins and their annotated locations for NP_001019683.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC121801
      Consensus CDS
      CCDS49409.1
      UniProtKB/Swiss-Prot
      A0JLS8, Q6NSV7, Q6PES0, Q6ZQ13, Q8CCW6, Q8R3J2
      Related
      ENSMUSP00000087985.6, ENSMUST00000090499.13
      Conserved Domains (1) summary
      pfam12516
      Location:117 → 181
      DUF3719; Protein of unknown function (DUF3719)

    2. NM_001177633.2 → NP_001171104.1  primary cilium assembly protein FAM149B1 isoform 3

      See identical proteins and their annotated locations for NP_001171104.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple 3' exons but has an alternate 3' exon, as compared to variant 1. The resulting isoform (3) is shorter and has a different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC121801
      Consensus CDS
      CCDS49408.1
      UniProtKB/Swiss-Prot
      Q6NSV7
      Related
      ENSMUSP00000153509.2, ENSMUST00000224721.2
      Conserved Domains (1) summary
      pfam12516
      Location:117 → 181
      DUF3719; Protein of unknown function (DUF3719)

    3. NM_001360364.2 → NP_001347293.1  primary cilium assembly protein FAM149B1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC121801
      Conserved Domains (1) summary
      pfam12516
      Location:117 → 181
      DUF3719; Protein of unknown function (DUF3719)

    4. NM_001360365.2 → NP_001347294.1  primary cilium assembly protein FAM149B1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC121801
      Conserved Domains (1) summary
      pfam12516
      Location:64 → 100
      DUF3719; Protein of unknown function (DUF3719)

    5. NM_001425986.1 → NP_001412915.1  primary cilium assembly protein FAM149B1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC121801

    6. NM_001425987.1 → NP_001412916.1  primary cilium assembly protein FAM149B1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC121801

    7. NM_001425988.1 → NP_001412917.1  primary cilium assembly protein FAM149B1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC121801

    8. NM_001425989.1 → NP_001412918.1  primary cilium assembly protein FAM149B1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC121801

    9. NM_001425990.1 → NP_001412919.1  primary cilium assembly protein FAM149B1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC121801

    10. NM_001425991.1 → NP_001412920.1  primary cilium assembly protein FAM149B1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC121801

    11. NM_001425992.1 → NP_001412921.1  primary cilium assembly protein FAM149B1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC121801

    12. NM_172379.4 → NP_759011.2  primary cilium assembly protein FAM149B1 isoform 2

      See identical proteins and their annotated locations for NP_759011.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC121801
      Consensus CDS
      CCDS49410.1
      UniProtKB/Swiss-Prot
      Q6NSV7
      Related
      ENSMUSP00000087989.5, ENSMUST00000090503.12
      Conserved Domains (1) summary
      pfam12516
      Location:117 → 169
      DUF3719; Protein of unknown function (DUF3719)

    RNA

    1. NR_189649.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC121801

    2. NR_189650.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC121801

    3. NR_189651.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC121801

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      20398221..20433559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158339.1 → XP_036014232.1  primary cilium assembly protein FAM149B1 isoform X1

      Conserved Domains (1) summary
      pfam12516
      Location:117 → 181
      DUF3719; Protein of unknown function (DUF3719)

    2. XM_036158343.1 → XP_036014236.1  primary cilium assembly protein FAM149B1 isoform X6

      Conserved Domains (1) summary
      pfam12516
      Location:117 → 181
      DUF3719; Protein of unknown function (DUF3719)

    3. XM_036158342.1 → XP_036014235.1  primary cilium assembly protein FAM149B1 isoform X4

      Conserved Domains (1) summary
      pfam12516
      Location:117 → 181
      DUF3719; Protein of unknown function (DUF3719)

    4. XM_036158345.1 → XP_036014238.1  primary cilium assembly protein FAM149B1 isoform X8

      Conserved Domains (1) summary
      pfam12516
      Location:117 → 169
      DUF3719; Protein of unknown function (DUF3719)

    5. XM_036158344.1 → XP_036014237.1  primary cilium assembly protein FAM149B1 isoform X7

      Conserved Domains (1) summary
      pfam12516
      Location:64 → 100
      DUF3719; Protein of unknown function (DUF3719)

    6. XM_036158349.1 → XP_036014242.1  primary cilium assembly protein FAM149B1 isoform X12

    7. XM_036158353.1 → XP_036014246.1  primary cilium assembly protein FAM149B1 isoform X16

    8. XM_036158340.1 → XP_036014233.1  primary cilium assembly protein FAM149B1 isoform X2

      Conserved Domains (1) summary
      pfam12516
      Location:83 → 147
      DUF3719; Protein of unknown function (DUF3719)

    9. XM_036158346.1 → XP_036014239.1  primary cilium assembly protein FAM149B1 isoform X9

      Conserved Domains (1) summary
      pfam12516
      Location:9 → 73
      DUF3719; Protein of unknown function (DUF3719)

    10. XM_036158341.1 → XP_036014234.1  primary cilium assembly protein FAM149B1 isoform X3

      Conserved Domains (1) summary
      pfam12516
      Location:117 → 181
      DUF3719; Protein of unknown function (DUF3719)

    11. XM_036158351.1 → XP_036014244.1  primary cilium assembly protein FAM149B1 isoform X13

      Conserved Domains (1) summary
      pfam12516
      Location:117 → 181
      DUF3719; Protein of unknown function (DUF3719)

    12. XM_011244880.2 → XP_011243182.1  primary cilium assembly protein FAM149B1 isoform X17

      Conserved Domains (1) summary
      pfam12516
      Location:117 → 181
      DUF3719; Protein of unknown function (DUF3719)

    13. XM_006518336.1 → XP_006518399.1  primary cilium assembly protein FAM149B1 isoform X15

      See identical proteins and their annotated locations for XP_006518399.1

    14. XM_036158352.1 → XP_036014245.1  primary cilium assembly protein FAM149B1 isoform X14

    RNA

    1. XR_004938355.1 RNA Sequence

    2. XR_004938356.1 RNA Sequence

    3. XR_001781076.2 RNA Sequence

    4. XR_004938354.1 RNA Sequence

    5. XR_004938353.1 RNA Sequence

    6. XR_001781072.2 RNA Sequence

      Related
      ENSMUST00000225834.2

    7. XR_004938357.1 RNA Sequence

    8. XR_004938358.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NSV7.1 GenPept UniProtKB/Swiss-Prot:Q6NSV7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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