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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
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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

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