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    FAM149B1 family with sequence similarity 149 member B1 [ Homo sapiens (human) ]

    Gene ID: 317662, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FAM149B1provided by HGNC
    Official Full Name
    family with sequence similarity 149 member B1provided by HGNC
    Primary source
    HGNC:HGNC:29162
    See related
    Ensembl:ENSG00000138286 MIM:618413; AllianceGenome:HGNC:29162
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JBTS36; KIAA0974
    Summary
    Involved in cilium assembly and protein localization to cilium. Predicted to be located in cilium. Implicated in Joubert syndrome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 10.1), brain (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q22.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73168119..73244504)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74039474..74115884)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (74927877..75004262)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene nudix hydrolase 13 Neighboring gene small nucleolar RNA, H/ACA box 11F Neighboring gene uncharacterized LOC124902452 Neighboring gene ecdysoneless cell cycle regulator Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74927585-74928184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74928785-74929383 Neighboring gene uncharacterized LOC105378358 Neighboring gene NANOG hESC enhancer GRCh37_chr10:74965967-74966502 Neighboring gene eukaryotic translation initiation factor 4A2 pseudogene 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75006455-75007654 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:75012121-75012688 Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 Neighboring gene DNAJC9 and MRPS16 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:75015484-75015659 Neighboring gene mitochondrial ribosomal protein S16 Neighboring gene cilia and flagella associated protein 70 Neighboring gene RNA, U6 small nuclear 833, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
      Title: BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
    2. Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.
      Title: Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.
    3. FAM149B1 is required for normal ciliary biology and its deficiency results in a range of ciliopathy phenotypes in humans along the spectrum of Joubert syndrome
      Title: Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Joubert syndrome 36
    MedGen: C5231493 OMIM: 618763 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0974

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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_173348.2 → NP_775483.1  primary cilium assembly protein FAM149B1

      See identical proteins and their annotated locations for NP_775483.1

      Status: VALIDATED

      Source sequence(s)
      AB023191, AC016394, BM977866, DC340839
      Consensus CDS
      CCDS44435.1
      UniProtKB/Swiss-Prot
      Q96BN6, Q9Y2I0
      UniProtKB/TrEMBL
      H7BY93
      Related
      ENSP00000242505.6, ENST00000242505.11
      Conserved Domains (1) summary
      pfam12516
      Location:115 → 179
      DUF3719; Protein of unknown function (DUF3719)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      73168119..73244504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269744.3 → XP_005269801.2  primary cilium assembly protein FAM149B1 isoform X1

    2. XM_047425143.1 → XP_047281099.1  primary cilium assembly protein FAM149B1 isoform X3

    3. XM_047425144.1 → XP_047281100.1  primary cilium assembly protein FAM149B1 isoform X6

    4. XM_017016167.2 → XP_016871656.1  primary cilium assembly protein FAM149B1 isoform X4

    5. XM_011539740.3 → XP_011538042.1  primary cilium assembly protein FAM149B1 isoform X5

      Conserved Domains (1) summary
      pfam12516
      Location:115 → 179
      DUF3719; Protein of unknown function (DUF3719)

    6. XM_047425145.1 → XP_047281101.1  primary cilium assembly protein FAM149B1 isoform X7

    7. XM_047425142.1 → XP_047281098.1  primary cilium assembly protein FAM149B1 isoform X2

      Related
      ENSP00000362046.3, ENST00000372955.7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      74039474..74115884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365702.1 → XP_054221677.1  primary cilium assembly protein FAM149B1 isoform X7

    2. XM_054365697.1 → XP_054221672.1  primary cilium assembly protein FAM149B1 isoform X2

    3. XM_054365696.1 → XP_054221671.1  primary cilium assembly protein FAM149B1 isoform X1

    4. XM_054365698.1 → XP_054221673.1  primary cilium assembly protein FAM149B1 isoform X3

    5. XM_054365701.1 → XP_054221676.1  primary cilium assembly protein FAM149B1 isoform X6

    6. XM_054365699.1 → XP_054221674.1  primary cilium assembly protein FAM149B1 isoform X4

    7. XM_054365700.1 → XP_054221675.1  primary cilium assembly protein FAM149B1 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BN6.2 GenPept UniProtKB/Swiss-Prot:Q96BN6

    Gene LinkOut

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

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