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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
    mouse all
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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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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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