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

Gene ID: 348807, updated on 17-Jun-2019

Summary

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
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
Expression
Biased expression in testis (RPKM 3.6) and lung (RPKM 1.4) See more
Orthologs

Genomic context

See CFAP100 in Genome Data Viewer
Location:
3q21.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (126394893..126436556)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (126113751..126155399)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986044 Neighboring gene CCDC37 divergent transcript Neighboring gene uncharacterized LOC105374089 Neighboring gene ZXD family zinc finger C Neighboring gene urocanate hydratase 1

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40083, MGC120558

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dynein complex binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cilium movement ISS
Inferred from Sequence or Structural Similarity
more info
 
inner dynein arm assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of microtubule motor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
axonemal outer doublet ISS
Inferred from Sequence or Structural Similarity
more info
 
motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_182628.3NP_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
    Q494V2
    Related
    ENSP00000344749.1, ENST00000352312.6
    Conserved Domains (1) summary
    pfam13863
    Location:151269
    DUF4200; Domain of unknown function (DUF4200)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    126394893..126436556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713623.2XP_006713686.1  cilia- and flagella-associated protein 100 isoform X1

    See identical proteins and their annotated locations for XP_006713686.1

    UniProtKB/Swiss-Prot
    Q494V2
    Conserved Domains (1) summary
    pfam13863
    Location:151269
    DUF4200; Domain of unknown function (DUF4200)
  2. XM_017006322.1XP_016861811.1  cilia- and flagella-associated protein 100 isoform X3

  3. XM_017006321.1XP_016861810.1  cilia- and flagella-associated protein 100 isoform X2

  4. XM_017006323.1XP_016861812.1  cilia- and flagella-associated protein 100 isoform X4

  5. XM_017006325.1XP_016861814.1  cilia- and flagella-associated protein 100 isoform X5

  6. XM_017006327.1XP_016861816.1  cilia- and flagella-associated protein 100 isoform X7

  7. XM_017006326.1XP_016861815.1  cilia- and flagella-associated protein 100 isoform X6

RNA

  1. XR_001740141.2 RNA Sequence

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