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CFAP95 cilia and flagella associated protein 95 [ Homo sapiens (human) ]

Gene ID: 138255, updated on 11-Apr-2024

Summary

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Official Symbol
CFAP95provided by HGNC
Official Full Name
cilia and flagella associated protein 95provided by HGNC
Primary source
HGNC:HGNC:31422
See related
Ensembl:ENSG00000204711 AllianceGenome:HGNC:31422
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
C9orf135
Summary
Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 4.0), lung (RPKM 1.2) and 3 other tissues See more
Orthologs
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Genomic context

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Location:
9q21.12
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (69820817..69906227)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (81987445..82072894)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (72435733..72521143)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:72375949-72376804 Neighboring gene Sharpr-MPRA regulatory region 8756 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:72377659-72378514 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:72378515-72379369 Neighboring gene Sharpr-MPRA regulatory region 12610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19937 Neighboring gene CFAP95 divergent transcript Neighboring gene RNA, 7SL, cytoplasmic 570, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr9:72538823-72539553 Neighboring gene uncharacterized LOC124902179 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:72653226-72653743 Neighboring gene Sharpr-MPRA regulatory region 7941 Neighboring gene MAM domain containing 2 Neighboring gene MAMDC2 antisense RNA 1

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
  • 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. C9ORF135 encodes a membrane protein whose expression is related to pluripotency in human embryonic stem cells. Zhou S, et al. Sci Rep, 2017 Mar 27. PMID 28345668, Free PMC Article
  2. A Bayesian approach to genetic association studies with family-based designs. Naylor MG, et al. Genet Epidemiol, 2010 Sep. PMID 20818722, Free PMC Article
  3. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article
  4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. Liu T, et al. J Proteome Res, 2005 Nov-Dec. PMID 16335952, 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 (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: A Bayesian approach to genetic association studies with family-based designs.
  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

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in axonemal A tubule inner sheath IEA
Inferred from Electronic Annotation
more info
  
located_in axonemal microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axonemal microtubule ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cilia- and flagella-associated protein 95
Names
protein C9orf135
protein CFAP95
uncharacterized protein C9orf135

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_001010940.3 → NP_001010940.1  cilia- and flagella-associated protein 95 isoform 1

    See identical proteins and their annotated locations for NP_001010940.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC150564, CA502919, CD684431
    Consensus CDS
    CCDS35041.1
    UniProtKB/Swiss-Prot
    A7E2U4, B2RN61, Q5VTT2
    Related
    ENSP00000366402.3, ENST00000377197.8
    Conserved Domains (1) summary
    pfam15139
    Location:28 → 220
    DUF4572; Domain of unknown function (DUF4572)

  2. NM_001308084.2 → NP_001295013.1  cilia- and flagella-associated protein 95 isoform 2

    See identical proteins and their annotated locations for NP_001295013.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift compared to variant 1. The encoded isoform (2) has a shorter and discint C-terminus, compared to isoform 1.
    Source sequence(s)
    BC150564, CA502919, CK126031
    Consensus CDS
    CCDS78403.1
    UniProtKB/TrEMBL
    H0YD79
    Related
    ENSP00000431855.1, ENST00000527647.5
    Conserved Domains (1) summary
    pfam15139
    Location:28 → 150
    DUF4572; Domain of unknown function (DUF4572)

  3. NM_001308085.2 → NP_001295014.1  cilia- and flagella-associated protein 95 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks part of the 5' coding region and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    BC144373, CA502919, CK126031
    Conserved Domains (1) summary
    pfam15139
    Location:2 → 121
    DUF4572; Domain of unknown function (DUF4572)

  4. NM_001308086.2 → NP_001295015.1  cilia- and flagella-associated protein 95 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region, compared to variant 1. These differences result in the use of a downstream in-frame start codon, and introduce a frameshift in the 3' coding region. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC144375, CA502919, CK126031
    Conserved Domains (1) summary
    pfam15139
    Location:2 → 82
    DUF4572; Domain of unknown function (DUF4572)

RNA

  1. NR_131756.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an internal exon and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC144374, CA502919, CK126031
    Related
    ENST00000466872.2

  2. NR_131757.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks several exons and its 3'-terminal exon extends past a splice site that is used in variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AW014133, BC144373, CK126031
    Related
    ENST00000495399.1

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    69820817..69906227
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518230.3 → XP_011516532.1  cilia- and flagella-associated protein 95 isoform X2

    See identical proteins and their annotated locations for XP_011516532.1

    Conserved Domains (1) summary
    pfam15139
    Location:28 → 151
    DUF4572; Domain of unknown function (DUF4572)

  2. XM_011518229.3 → XP_011516531.1  cilia- and flagella-associated protein 95 isoform X1

    Conserved Domains (1) summary
    pfam15139
    Location:28 → 244
    DUF4572; Domain of unknown function (DUF4572)

  3. XM_011518234.4 → XP_011516536.1  cilia- and flagella-associated protein 95 isoform X3

    See identical proteins and their annotated locations for XP_011516536.1

    Conserved Domains (1) summary
    pfam15139
    Location:2 → 145
    DUF4572; Domain of unknown function (DUF4572)

  4. XM_011518231.3 → XP_011516533.1  cilia- and flagella-associated protein 95 isoform X2

    See identical proteins and their annotated locations for XP_011516533.1

    Conserved Domains (1) summary
    pfam15139
    Location:28 → 151
    DUF4572; Domain of unknown function (DUF4572)

  5. XM_011518233.3 → XP_011516535.1  cilia- and flagella-associated protein 95 isoform X3

    See identical proteins and their annotated locations for XP_011516535.1

    Conserved Domains (1) summary
    pfam15139
    Location:2 → 145
    DUF4572; Domain of unknown function (DUF4572)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    81987445..82072894
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361977.1 → XP_054217952.1  cilia- and flagella-associated protein 95 isoform X2

  2. XM_054361976.1 → XP_054217951.1  cilia- and flagella-associated protein 95 isoform X1

  3. XM_054361980.1 → XP_054217955.1  cilia- and flagella-associated protein 95 isoform X3

  4. XM_054361978.1 → XP_054217953.1  cilia- and flagella-associated protein 95 isoform X2

  5. XM_054361979.1 → XP_054217954.1  cilia- and flagella-associated protein 95 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VTT2.1 GenPept UniProtKB/Swiss-Prot:Q5VTT2

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