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CFAP47 cilia and flagella associated protein 47 [ Homo sapiens (human) ]

Gene ID: 286464, updated on 5-Aug-2022

Summary

Official Symbol
CFAP47provided by HGNC
Official Full Name
cilia and flagella associated protein 47provided by HGNC
Primary source
HGNC:HGNC:26708
See related
Ensembl:ENSG00000165164 MIM:301057; AllianceGenome:HGNC:26708
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
CHDC2; SPGF52; SPGFX3; CXorf22; CXorf30; CXorf59
Summary
While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See CFAP47 in Genome Data Viewer
Location:
Xp21.1
Exon count:
65
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (35919734..36385317)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (35515293..35981097)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (35937851..36403432)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NFYC pseudogene 1 Neighboring gene MAGE family member B16 Neighboring gene RNA, U6 small nuclear 641, pseudogene Neighboring gene high mobility group box 1 pseudogene 16 Neighboring gene uncharacterized LOC101928627 Neighboring gene ribosomal protein S15a pseudogene 40 Neighboring gene uncharacterized LOC105373155 Neighboring gene H2A.L variant histone 1Q

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

  • FLJ36601, FLJ44315, MGC34831, MGC126747, MGC126749

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sperm axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sperm axoneme assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in sperm connecting piece IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cilia- and flagella-associated protein 47
Names
calponin homology domain-containing protein 2

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.

Genomic

  1. NG_016381.2 RefSeqGene

    Range
    5001..470584
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001304548.2NP_001291477.1  cilia- and flagella-associated protein 47 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC233304, AK093920, AK126295, AL590065, AL606467, BC027936, BC101698, BG186336, BG190566, BG197183, BG200277, CD106515, CD686506, DV080105, DV080141, DV080142, DV080305, DV080519, DV080613, DV080632, DV080683, DV080684, DY655297
    Consensus CDS
    CCDS83464.1
    UniProtKB/Swiss-Prot
    Q6ZTR5, Q8N9S7
    UniProtKB/TrEMBL
    A0A140T8X2
    Related
    ENSP00000367922.5, ENST00000378653.8
    Conserved Domains (1) summary
    pfam00307
    Location:17481870
    CH; Calponin homology (CH) domain
  2. NM_152632.4NP_689845.2  cilia- and flagella-associated protein 47 isoform 2

    See identical proteins and their annotated locations for NP_689845.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks multiple exons in the central and 3' coding regions, and its 3' terminal exon extends beyond a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is significantly shorter, and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK126295, AL590065, BC027936, CD686506
    Consensus CDS
    CCDS14237.2
    UniProtKB/Swiss-Prot
    Q6ZTR5
    Related
    ENSP00000297866.5, ENST00000297866.9

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    35919734..36385317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029452.2XP_016884941.1  cilia- and flagella-associated protein 47 isoform X1

    Conserved Domains (1) summary
    pfam00307
    Location:17481870
    CH; Calponin homology (CH) domain
  2. XM_017029453.2XP_016884942.1  cilia- and flagella-associated protein 47 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    35515293..35981097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_021289.1: Suppressed sequence

    Description
    NG_021289.1: This RefSeq was permanently suppressed because gene CXorf22 was merged into gene CFAP47.
  2. NM_173695.2: Suppressed sequence

    Description
    NM_173695.2: This RefSeq was permanently suppressed because both the transcript and CDS are partial and do not represent the full length of the gene.