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

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

    Summary

    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
    NEW
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    Genomic context

    See CFAP95 in Genome Data Viewer
    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

    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

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001010940.3NP_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:28220
      DUF4572; Domain of unknown function (DUF4572)
    2. NM_001308084.2NP_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:28150
      DUF4572; Domain of unknown function (DUF4572)
    3. NM_001308085.2NP_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:2121
      DUF4572; Domain of unknown function (DUF4572)
    4. NM_001308086.2NP_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:282
      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_011518230.3XP_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:28151
      DUF4572; Domain of unknown function (DUF4572)
    2. XM_011518229.3XP_011516531.1  cilia- and flagella-associated protein 95 isoform X1

      Conserved Domains (1) summary
      pfam15139
      Location:28244
      DUF4572; Domain of unknown function (DUF4572)
    3. XM_011518234.4XP_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:2145
      DUF4572; Domain of unknown function (DUF4572)
    4. XM_011518231.3XP_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:28151
      DUF4572; Domain of unknown function (DUF4572)
    5. XM_011518233.3XP_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:2145
      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_054361977.1XP_054217952.1  cilia- and flagella-associated protein 95 isoform X2

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

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

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

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