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CFAP100 cilia and flagella associated protein 100 [ Homo sapiens (human) ]

Gene ID: 348807, updated on 5-Mar-2024

Summary

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Official Symbol
CFAP100provided by HGNC
Official Full Name
cilia and flagella associated protein 100provided by HGNC
Primary source
HGNC:HGNC:26842
See related
Ensembl:ENSG00000163885 AllianceGenome:HGNC:26842
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
MIA1; CCDC37
Summary
Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement and inner dynein arm assembly. Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 3.6) and lung (RPKM 1.4) See more
Orthologs
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Genomic context

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See CFAP100 in Genome Data Viewer
Location:
3q21.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (126394909..126436556)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (129127425..129169110)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (126113752..126155399)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126094973-126095585 Neighboring gene uncharacterized LOC107986044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126108375-126108923 Neighboring gene CFAP100 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126116648-126117157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126127425-126127925 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126136999-126137896 Neighboring gene uncharacterized LOC124906280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126160086-126160721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126167171-126168110 Neighboring gene ZXD family zinc finger C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126186579-126187556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126193081-126193606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126204897-126205832 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:126207907-126209106 Neighboring gene urocanate hydratase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126216345-126217222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126229039-126229961

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. The MIA complex is a conserved and novel dynein regulator essential for normal ciliary motility. Yamamoto R, et al. J Cell Biol, 2013 Apr 15. PMID 23569216, Free PMC Article
  2. Genome-wide analysis of DNA methylation and the gene expression change in lung cancer. Kwon YJ, et al. J Thorac Oncol, 2012 Jan. PMID 22011669
  3. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, Free PMC Article
  4. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. Dart AE, et al. J Cell Biol, 2015 Nov 23. PMID 26598620, Free PMC Article
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

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

  • FLJ40083, MGC120558

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dynein complex binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in cilium movement ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in inner dynein arm assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in axonemal outer doublet ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
cilia- and flagella-associated protein 100
Names
coiled-coil domain containing 37
coiled-coil domain-containing protein 37

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_182628.3 → NP_872434.2  cilia- and flagella-associated protein 100

    See identical proteins and their annotated locations for NP_872434.2

    Status: VALIDATED

    Source sequence(s)
    AC063919, AC073439, AK097402, BC101367
    Consensus CDS
    CCDS3037.1
    UniProtKB/Swiss-Prot
    D3DNA8, Q494V1, Q494V2, Q494V4, Q8N838
    Related
    ENSP00000344749.1, ENST00000352312.6
    Conserved Domains (1) summary
    pfam13863
    Location:151 → 269
    DUF4200; Domain of unknown function (DUF4200)

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    126394909..126436556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006322.2 → XP_016861811.1  cilia- and flagella-associated protein 100 isoform X2

  2. XM_017006321.2 → XP_016861810.1  cilia- and flagella-associated protein 100 isoform X1

  3. XM_017006323.2 → XP_016861812.1  cilia- and flagella-associated protein 100 isoform X3

  4. XM_017006325.2 → XP_016861814.1  cilia- and flagella-associated protein 100 isoform X4

  5. XM_017006327.2 → XP_016861816.1  cilia- and flagella-associated protein 100 isoform X6

  6. XM_017006326.2 → XP_016861815.1  cilia- and flagella-associated protein 100 isoform X5

RNA

  1. XR_007095676.1 RNA Sequence

  2. XR_001740141.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    129127425..129169110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346443.1 → XP_054202418.1  cilia- and flagella-associated protein 100 isoform X2

  2. XM_054346442.1 → XP_054202417.1  cilia- and flagella-associated protein 100 isoform X1

  3. XM_054346444.1 → XP_054202419.1  cilia- and flagella-associated protein 100 isoform X3

  4. XM_054346445.1 → XP_054202420.1  cilia- and flagella-associated protein 100 isoform X4

  5. XM_054346447.1 → XP_054202422.1  cilia- and flagella-associated protein 100 isoform X6

  6. XM_054346446.1 → XP_054202421.1  cilia- and flagella-associated protein 100 isoform X5

RNA

  1. XR_008486713.1 RNA Sequence

  2. XR_008486714.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q494V2.1 GenPept UniProtKB/Swiss-Prot:Q494V2

Gene LinkOut

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