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    CFAP144 cilia and flagella associated protein 144 [ Homo sapiens (human) ]

    Gene ID: 440585, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CFAP144provided by HGNC
    Official Full Name
    cilia and flagella associated protein 144provided by HGNC
    Primary source
    HGNC:HGNC:34347
    See related
    Ensembl:ENSG00000186973 AllianceGenome:HGNC:34347
    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
    FAM183A
    Summary
    Enables microtubule binding activity. Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in skin (RPKM 1.4), lung (RPKM 1.0) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP144 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43142962..43156396)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42998069..43026887)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43613575..43622067)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 880, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43473322-43474029 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43474030-43474738 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:43474739-43475446 Neighboring gene uncharacterized LOC124904715 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43501886-43502436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43523803-43524338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43535165-43536132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 775 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:43556627-43557317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43567490-43567994 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43585242-43585883 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43585884-43586524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43587073-43587594 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:43618601-43619564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43637036-43637672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43637673-43638308 Neighboring gene NANOG hESC enhancer GRCh37_chr1:43643293-43643794 Neighboring gene EBNA1 binding protein 2 Neighboring gene uncharacterized LOC105378685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43651642-43652142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43652143-43652643 Neighboring gene microRNA 6733 Neighboring gene cilia and flagella associated protein 57 Neighboring gene RNA, 5S ribosomal pseudogene 46

    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. Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability. McSherry M, et al. PLoS One, 2018. PMID 30500859, Free PMC Article
    2. The transcriptional signature associated with human motile cilia. Patir A, et al. Sci Rep, 2020 Jul 2. PMID 32616903, Free PMC Article
    3. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article
    4. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. König R, et al. Cell, 2008 Oct 3. PMID 18854154, Free PMC Article
    5. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Whole exome sequencing revealed a nonsense variant (c.377G>A; p.W126*) in FAM183A, a novel candidate gene for autosomal recessive intellectual disability.
      Title: Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of family with sequence similarity 183, member A (FAM183A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal B tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary base IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 144
    Names
    family with sequence similarity 183 member A
    hCG23177
    protein FAM183A

    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_001101376.3 → NP_001094846.2  cilia- and flagella-associated protein 144

      See identical proteins and their annotated locations for NP_001094846.2

      Status: VALIDATED

      Source sequence(s)
      AI192630, AI375550, AL139138
      Consensus CDS
      CCDS44126.1
      UniProtKB/Swiss-Prot
      A6NL82, B7ZBL8
      UniProtKB/TrEMBL
      B7ZBL7
      Related
      ENSP00000334415.3, ENST00000335282.5
      Conserved Domains (1) summary
      pfam14886
      Location:19 → 121
      FAM183; FAM183A and FAM183B related

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      43142962..43156396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270876.5 → XP_005270933.1  cilia- and flagella-associated protein 144 isoform X2

      UniProtKB/TrEMBL
      B7ZBL6
      Related
      ENSP00000387249.1, ENST00000410048.5
      Conserved Domains (1) summary
      pfam14886
      Location:17 → 109
      FAM183; FAM183A and FAM183B related

    2. XM_005270875.6 → XP_005270932.1  cilia- and flagella-associated protein 144 isoform X1

      See identical proteins and their annotated locations for XP_005270932.1

      UniProtKB/TrEMBL
      B7ZBL7
      Related
      ENSP00000387254.1, ENST00000409396.5
      Conserved Domains (1) summary
      pfam14886
      Location:19 → 137
      FAM183; FAM183A and FAM183B related

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      42998069..43026887
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336678.1 → XP_054192653.1  cilia- and flagella-associated protein 144 isoform X3

      UniProtKB/Swiss-Prot
      A6NL82, B7ZBL8

    2. XM_054336679.1 → XP_054192654.1  cilia- and flagella-associated protein 144 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NL82.2 GenPept UniProtKB/Swiss-Prot:A6NL82

    Gene LinkOut

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

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