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

Gene ID: 317662, updated on 7-Sep-2023

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
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Genomic context

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See FAM149B1 in Genome Data Viewer
Location:
10q22.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73168119..73244504)
RS_2023_03 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 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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Related articles in PubMed

  1. Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family. Siegert S, et al. Genes (Basel), 2021 Oct 20. PMID 34828254, Free PMC Article
  2. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. Shaheen R, et al. Am J Hum Genet, 2019 Apr 4. PMID 30905400, Free PMC Article
  3. BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1. Satoda Y, et al. Mol Biol Cell, 2022 Aug 1. PMID 35609210, Free PMC Article
  4. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Feb 26. PMID 10231032
  5. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article

See all (12) citations in PubMed

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
 PubMed 
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
 PubMed 
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_03

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

    UniProtKB/TrEMBL
    H7BY93

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

    UniProtKB/TrEMBL
    H7BY93

  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

    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_054365702.1 → XP_054221677.1  primary cilium assembly protein FAM149B1 isoform X7

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

    UniProtKB/TrEMBL
    B4E0M2

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

    UniProtKB/TrEMBL
    H7BY93

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

    UniProtKB/TrEMBL
    H7BY93

  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

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