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

    Gene ID: 317662, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 10.1), brain (RPKM 6.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FAM149B1 in Genome Data Viewer
    Location:
    10q22.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73168119..73244504)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74039474..74115884)
    RS_2024_09 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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    primary cilium assembly protein FAM149B1
    Names
    protein FAM149B1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_173348.2NP_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:115179
      DUF3719; Protein of unknown function (DUF3719)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_005269744.3XP_005269801.2  primary cilium assembly protein FAM149B1 isoform X1

      UniProtKB/TrEMBL
      H7BY93
    2. XM_047425143.1XP_047281099.1  primary cilium assembly protein FAM149B1 isoform X3

      UniProtKB/TrEMBL
      H7BY93
    3. XM_047425144.1XP_047281100.1  primary cilium assembly protein FAM149B1 isoform X6

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

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

      Conserved Domains (1) summary
      pfam12516
      Location:115179
      DUF3719; Protein of unknown function (DUF3719)
    6. XM_047425145.1XP_047281101.1  primary cilium assembly protein FAM149B1 isoform X7

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

      UniProtKB/TrEMBL
      B4E0M2
      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_054365702.1XP_054221677.1  primary cilium assembly protein FAM149B1 isoform X7

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

      UniProtKB/TrEMBL
      B4E0M2
    3. XM_054365696.1XP_054221671.1  primary cilium assembly protein FAM149B1 isoform X1

      UniProtKB/TrEMBL
      H7BY93
    4. XM_054365698.1XP_054221673.1  primary cilium assembly protein FAM149B1 isoform X3

      UniProtKB/TrEMBL
      H7BY93
    5. XM_054365701.1XP_054221676.1  primary cilium assembly protein FAM149B1 isoform X6

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

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