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CFAP73 cilia and flagella associated protein 73 [ Homo sapiens (human) ]

Gene ID: 387885, updated on 5-Mar-2024

Summary

Official Symbol
CFAP73provided by HGNC
Official Full Name
cilia and flagella associated protein 73provided by HGNC
Primary source
HGNC:HGNC:37100
See related
Ensembl:ENSG00000186710 AllianceGenome:HGNC:37100
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
MIA2; CCDC42B
Summary
Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement and inner dynein arm assembly. Predicted to be located in axonemal outer doublet and motile cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lung (RPKM 3.5), kidney (RPKM 3.5) and 25 other tissues See more
Orthologs
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Genomic context

See CFAP73 in Genome Data Viewer
Location:
12q24.13
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (113149724..113159276)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (113126368..113135920)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113587529..113597081)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113495773-113496561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113503073-113503631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113504873-113505373 Neighboring gene deltex E3 ubiquitin ligase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113535297-113535838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7061 Neighboring gene RAS protein activator like 1 Neighboring gene MPRA-validated peak1969 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113592609-113593108 Neighboring gene MPRA-validated peak1971 silencer Neighboring gene microRNA 7106 Neighboring gene DEAD-box helicase 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7063 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:113623217-113623866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113623867-113624517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113624518-113625167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113629297-113629950 Neighboring gene Sharpr-MPRA regulatory region 6569 Neighboring gene RBPJ interacting and tubulin associated 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113639865-113640756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7067 Neighboring gene IQ motif containing D Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7068

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

General gene information

Markers

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
 
involved_in spermatid development IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in axonemal outer doublet ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
cilia- and flagella-associated protein 73
Names
coiled-coil domain containing 42B
coiled-coil domain-containing protein 42B

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_001144872.3NP_001138344.1  cilia- and flagella-associated protein 73

    See identical proteins and their annotated locations for NP_001138344.1

    Status: VALIDATED

    Source sequence(s)
    AC089999
    Consensus CDS
    CCDS44983.1
    UniProtKB/Swiss-Prot
    A6NFT4
    Related
    ENSP00000333915.6, ENST00000335621.11
    Conserved Domains (1) summary
    pfam13863
    Location:35152
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    113149724..113159276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538327.3XP_011536629.2  cilia- and flagella-associated protein 73 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    113126368..113135920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372034.1XP_054228009.1  cilia- and flagella-associated protein 73 isoform X1