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

Gene ID: 387885, updated on 24-Nov-2020

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
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
Expression
Ubiquitous expression in lung (RPKM 3.5), kidney (RPKM 3.5) and 25 other tissues See more
Orthologs

Genomic context

See CFAP73 in Genome Data Viewer
Location:
12q24.13
Exon count:
9
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (113149162..113159276)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113587543..113597081)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S15a pseudogene 32 Neighboring gene deltex E3 ubiquitin ligase 1 Neighboring gene RAS protein activator like 1 Neighboring gene microRNA 7106 Neighboring gene DEAD-box helicase 54 Neighboring gene RBPJ interacting and tubulin associated 1 Neighboring gene IQ motif containing D

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

Homology

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 73
Names
coiled-coil domain containing 42B
coiled-coil domain-containing protein 42B

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_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, ENST00000335621.10
    Conserved Domains (1) summary
    pfam13863
    Location:35152
    DUF4200; Domain of unknown function (DUF4200)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    113149162..113159276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448978.1XP_024304746.1  cilia- and flagella-associated protein 73 isoform X2

    Conserved Domains (2) summary
    pfam13863
    Location:89206
    DUF4200; Domain of unknown function (DUF4200)
    cl25732
    Location:64308
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_011538327.2XP_011536629.1  cilia- and flagella-associated protein 73 isoform X1

    Conserved Domains (2) summary
    pfam08989
    Location:62112
    DUF1896; Domain of unknown function (DUF1896)
    pfam13863
    Location:89206
    DUF4200; Domain of unknown function (DUF4200)
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