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CFAP70 cilia and flagella associated protein 70 [ Homo sapiens (human) ]

Gene ID: 118491, updated on 20-Jan-2022

Summary

Official Symbol
CFAP70provided by HGNC
Official Full Name
cilia and flagella associated protein 70provided by HGNC
Primary source
HGNC:HGNC:30726
See related
Ensembl:ENSG00000156042 MIM:618661
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
TTC18; SPGF41
Summary
Predicted to be involved in cilium assembly and cilium movement. Located in ciliary basal body and sperm flagellum. Part of outer dynein arm. Implicated in spermatogenic failure 41. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Biased expression in testis (RPKM 8.3), thyroid (RPKM 2.0) and 13 other tissues See more
Orthologs
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Genomic context

See CFAP70 in Genome Data Viewer
Location:
10q22.2
Exon count:
31
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (73253758..73361064, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75013520..75118622, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 149 member B1 Neighboring gene DNAJC9 and MRPS16 antisense RNA 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 Neighboring gene mitochondrial ribosomal protein S16 Neighboring gene RNA, U6 small nuclear 833, pseudogene Neighboring gene annexin A7 Neighboring gene ribosomal protein L26 pseudogene 6

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

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12173, FLJ25765

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium movement ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
is_active_in motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of outer dynein arm IDA
Inferred from Direct Assay
more info
PubMed 
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cilia- and flagella-associated protein 70
Names
TPR repeat protein 18
tetratricopeptide repeat domain 18
tetratricopeptide repeat protein 18
tetratricopeptide repeat-containing protein (LOC118491)

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_001350933.2NP_001337862.1  cilia- and flagella-associated protein 70 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL833537, BC032856, DB046355, HY008219
    Related
    ENSP00000310829.4, ENST00000310715.8
    Conserved Domains (2) summary
    COG0457
    Location:8371027
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:602627
    TPR; TPR repeat [structural motif]
  2. NM_001350934.2NP_001337863.1  cilia- and flagella-associated protein 70 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL833537, BC032856, DB046355, HY008219
    Related
    ENSP00000510588.1, ENST00000686590.1
    Conserved Domains (3) summary
    COG0457
    Location:715905
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:480505
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:480537
    TPR_12; Tetratricopeptide repeat
  3. NM_001367801.1NP_001354730.1  cilia- and flagella-associated protein 70 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC016394, AL512656
    Related
    ENSP00000347781.4, ENST00000355577.9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    73253758..73361064 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015627.1XP_016871116.1  cilia- and flagella-associated protein 70 isoform X9

  2. XM_017015621.1XP_016871110.1  cilia- and flagella-associated protein 70 isoform X2

  3. XM_017015624.1XP_016871113.1  cilia- and flagella-associated protein 70 isoform X6

    Conserved Domains (3) summary
    COG0457
    Location:9021092
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    TIGR02917
    Location:6821091
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:667692
    TPR; TPR repeat [structural motif]
  4. XM_017015622.1XP_016871111.1  cilia- and flagella-associated protein 70 isoform X3

  5. XM_017015629.1XP_016871118.1  cilia- and flagella-associated protein 70 isoform X10

  6. XM_017015623.1XP_016871112.1  cilia- and flagella-associated protein 70 isoform X5

  7. XM_017015626.1XP_016871115.1  cilia- and flagella-associated protein 70 isoform X8

  8. XM_017015625.1XP_016871114.1  cilia- and flagella-associated protein 70 isoform X7

  9. XM_017015620.1XP_016871109.1  cilia- and flagella-associated protein 70 isoform X1

  10. XM_006717610.2XP_006717673.1  cilia- and flagella-associated protein 70 isoform X11

    See identical proteins and their annotated locations for XP_006717673.1

    Conserved Domains (3) summary
    COG0457
    Location:715905
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:480505
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:480537
    TPR_12; Tetratricopeptide repeat
  11. XM_017015632.1XP_016871121.1  cilia- and flagella-associated protein 70 isoform X12

  12. XM_017015630.1XP_016871119.1  cilia- and flagella-associated protein 70 isoform X11

    Conserved Domains (3) summary
    COG0457
    Location:715905
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:480505
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:480537
    TPR_12; Tetratricopeptide repeat
  13. XM_006717604.2XP_006717667.1  cilia- and flagella-associated protein 70 isoform X4

    See identical proteins and their annotated locations for XP_006717667.1

    UniProtKB/Swiss-Prot
    Q5T0N1
    Conserved Domains (2) summary
    sd00006
    Location:672697
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:10341096
    TPR_11; TPR repeat
  14. XM_006717611.4XP_006717674.1  cilia- and flagella-associated protein 70 isoform X11

    See identical proteins and their annotated locations for XP_006717674.1

    Conserved Domains (3) summary
    COG0457
    Location:715905
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:480505
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:480537
    TPR_12; Tetratricopeptide repeat
  15. XM_006717605.2XP_006717668.1  cilia- and flagella-associated protein 70 isoform X4

    See identical proteins and their annotated locations for XP_006717668.1

    UniProtKB/Swiss-Prot
    Q5T0N1
    Conserved Domains (2) summary
    sd00006
    Location:672697
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:10341096
    TPR_11; TPR repeat
  16. XM_005269489.2XP_005269546.1  cilia- and flagella-associated protein 70 isoform X11

    See identical proteins and their annotated locations for XP_005269546.1

    Conserved Domains (3) summary
    COG0457
    Location:715905
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:480505
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:480537
    TPR_12; Tetratricopeptide repeat
  17. XM_011539212.2XP_011537514.1  cilia- and flagella-associated protein 70 isoform X11

    See identical proteins and their annotated locations for XP_011537514.1

    Conserved Domains (3) summary
    COG0457
    Location:715905
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:480505
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:480537
    TPR_12; Tetratricopeptide repeat
  18. XM_017015631.1XP_016871120.1  cilia- and flagella-associated protein 70 isoform X11

    Conserved Domains (3) summary
    COG0457
    Location:715905
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:480505
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:480537
    TPR_12; Tetratricopeptide repeat
  19. XM_017015633.1XP_016871122.1  cilia- and flagella-associated protein 70 isoform X13

RNA

  1. XR_001747016.1 RNA Sequence

  2. XR_001747015.1 RNA Sequence

  3. XR_001747014.1 RNA Sequence

  4. XR_001747013.1 RNA Sequence

  5. XR_001747012.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_145170.3: Suppressed sequence

    Description
    NM_145170.3: This RefSeq was removed because currently there is insufficient support for the transcript and protein.
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