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CFAP45 cilia and flagella associated protein 45 [ Homo sapiens (human) ]

Gene ID: 25790, updated on 5-Aug-2022

Summary

Official Symbol
CFAP45provided by HGNC
Official Full Name
cilia and flagella associated protein 45provided by HGNC
Primary source
HGNC:HGNC:17229
See related
Ensembl:ENSG00000213085 MIM:605152; AllianceGenome:HGNC:17229
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
HTX11; NESG1; CCDC19
Summary
Enables AMP binding activity. Involved in establishment of left/right asymmetry and flagellated sperm motility. Located in 9+2 motile cilium; axoneme; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 17.3), lung (RPKM 4.0) and 1 other tissue See more
Orthologs
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Genomic context

See CFAP45 in Genome Data Viewer
Location:
1q23.2
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (159872364..159900165, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159009376..159037231, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (159842154..159869955, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 28 Neighboring gene uncharacterized LOC107985216 Neighboring gene V-set and immunoglobulin domain containing 8 Neighboring gene Sharpr-MPRA regulatory region 5062 Neighboring gene uncharacterized LOC124904434 Neighboring gene uncharacterized LOC124904435 Neighboring gene microRNA 4259 Neighboring gene Sharpr-MPRA regulatory regions 3039 and 8536

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Heterotaxy, visceral, 11, autosomal, with male infertility
MedGen: C5562019 OMIM: 619608 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association of serum bilirubin levels in Korean population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables AMP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in 9+0 motile cilium IEA
Inferred from Electronic Annotation
more info
 
located_in 9+2 motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in axonemal microtubule ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
cilia- and flagella-associated protein 45
Names
coiled-coil domain containing 19
coiled-coil domain-containing protein 19, mitochondrial
nasopharyngeal epithelium specific protein 1 (NESG1)
nasopharyngeal epithelium-specific protein 1
protein CFAP45, mitochondrial

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_012337.3NP_036469.2  cilia- and flagella-associated protein 45

    See identical proteins and their annotated locations for NP_036469.2

    Status: VALIDATED

    Source sequence(s)
    AL590560, BC027874
    Consensus CDS
    CCDS30914.1
    UniProtKB/Swiss-Prot
    Q5VU18, Q9UL16
    Related
    ENSP00000357079.4, ENST00000368099.9
    Conserved Domains (2) summary
    pfam13868
    Location:187532
    TPH; Trichohyalin-plectin-homology domain
    cl19818
    Location:330385
    DUF106; Integral membrane protein DUF106

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    159872364..159900165 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    159009376..159037231 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)