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CFAP96 cilia and flagella associated protein 96 [ Homo sapiens (human) ]

Gene ID: 441054, updated on 2-Nov-2024

Summary

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Official Symbol
CFAP96provided by HGNC
Official Full Name
cilia and flagella associated protein 96provided by HGNC
Primary source
HGNC:HGNC:34346
See related
Ensembl:ENSG00000205129 AllianceGenome:HGNC:34346
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
C4orf47
Summary
Located in 9+0 non-motile cilium; centrosome; and cytoplasmic microtubule. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 3.0), thyroid (RPKM 0.8) and 5 other tissues See more
Orthologs
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Genomic context

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See CFAP96 in Genome Data Viewer
Location:
4q35.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185408434..185449826)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188748560..188793104)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (186347408..186370980)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sorting nexin 25 Neighboring gene uncharacterized LOC124900827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22258 Neighboring gene LRP2 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15855 Neighboring gene ankyrin repeat domain 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22260 Neighboring gene UFM1 specific peptidase 2 Neighboring gene Sharpr-MPRA regulatory region 8879 Neighboring gene coiled-coil domain containing 110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15856 Neighboring gene uncharacterized LOC105377590 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:186401399-186401900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:186423455-186423954 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:186434842-186436041 Neighboring gene PDZ and LIM domain 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. C4orf47 Contributes to the Induction of Stem-like Properties in Gallbladder Cancer Under Hypoxia. Na L, et al. Anticancer Res, 2023 May. PMID 37097647
  2. Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes. Castelo R, et al. Nucleic Acids Res, 2005. PMID 15809229, Free PMC Article
  3. Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. Firat-Karalar EN, et al. J Cell Sci, 2014 Oct 1. PMID 25074808, Free PMC Article
  4. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, Free PMC Article
  5. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. C4orf47 Contributes to the Induction of Stem-like Properties in Gallbladder Cancer Under Hypoxia.
    Title: C4orf47 Contributes to the Induction of Stem-like Properties in Gallbladder Cancer Under Hypoxia.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in 9+0 non-motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasmic microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic microtubule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cilia-and flagella-associated protein 96
Names
UPF0602 protein C4orf47

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_001114357.3 → NP_001107829.1  cilia-and flagella-associated protein 96 isoform 1

    See identical proteins and their annotated locations for NP_001107829.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC106897
    Consensus CDS
    CCDS47169.1
    UniProtKB/Swiss-Prot
    A7E2U8, Q5BLP7
    Related
    ENSP00000368127.4, ENST00000378850.5
    Conserved Domains (1) summary
    pfam15239
    Location:10 → 293
    DUF4586; Domain of unknown function (DUF4586)

  2. NM_001346007.2 → NP_001332936.1  cilia-and flagella-associated protein 96 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, uses an alternate translation start site, and lacks two alternate exons in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC106897

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    185408434..185449826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008239.2 → XP_016863728.1  cilia-and flagella-associated protein 96 isoform X1

    UniProtKB/Swiss-Prot
    A7E2U8, Q5BLP7
    Conserved Domains (1) summary
    pfam15239
    Location:10 → 293
    DUF4586; Domain of unknown function (DUF4586)

  2. XM_017008238.2 → XP_016863727.1  cilia-and flagella-associated protein 96 isoform X1

    UniProtKB/Swiss-Prot
    A7E2U8, Q5BLP7
    Conserved Domains (1) summary
    pfam15239
    Location:10 → 293
    DUF4586; Domain of unknown function (DUF4586)

  3. XM_017008240.2 → XP_016863729.1  cilia-and flagella-associated protein 96 isoform X1

    UniProtKB/Swiss-Prot
    A7E2U8, Q5BLP7
    Conserved Domains (1) summary
    pfam15239
    Location:10 → 293
    DUF4586; Domain of unknown function (DUF4586)

  4. XM_011531989.3 → XP_011530291.1  cilia-and flagella-associated protein 96 isoform X1

    See identical proteins and their annotated locations for XP_011530291.1

    UniProtKB/Swiss-Prot
    A7E2U8, Q5BLP7
    Conserved Domains (1) summary
    pfam15239
    Location:10 → 293
    DUF4586; Domain of unknown function (DUF4586)

  5. XM_047415721.1 → XP_047271677.1  cilia-and flagella-associated protein 96 isoform X2

  6. XM_047415719.1 → XP_047271675.1  cilia-and flagella-associated protein 96 isoform X1

    UniProtKB/Swiss-Prot
    A7E2U8, Q5BLP7

  7. XM_047415718.1 → XP_047271674.1  cilia-and flagella-associated protein 96 isoform X1

    UniProtKB/Swiss-Prot
    A7E2U8, Q5BLP7

  8. XM_047415720.1 → XP_047271676.1  cilia-and flagella-associated protein 96 isoform X2

  9. XM_047415722.1 → XP_047271678.1  cilia-and flagella-associated protein 96 isoform X3

    Related
    ENSP00000422279.1, ENST00000511138.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    188748560..188793104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350081.1 → XP_054206056.1  cilia-and flagella-associated protein 96 isoform X1

  2. XM_054350086.1 → XP_054206061.1  cilia-and flagella-associated protein 96 isoform X2

  3. XM_054350085.1 → XP_054206060.1  cilia-and flagella-associated protein 96 isoform X2

  4. XM_054350082.1 → XP_054206057.1  cilia-and flagella-associated protein 96 isoform X1

  5. XM_054350084.1 → XP_054206059.1  cilia-and flagella-associated protein 96 isoform X1

  6. XM_054350083.1 → XP_054206058.1  cilia-and flagella-associated protein 96 isoform X1

  7. XM_054350080.1 → XP_054206055.1  cilia-and flagella-associated protein 96 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A7E2U8.1 GenPept UniProtKB/Swiss-Prot:A7E2U8

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