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    CFAP91 cilia and flagella associated protein 91 [ Homo sapiens (human) ]

    Gene ID: 89876, updated on 5-Mar-2024

    Summary

    Official Symbol
    CFAP91provided by HGNC
    Official Full Name
    cilia and flagella associated protein 91provided by HGNC
    Primary source
    HGNC:HGNC:24010
    See related
    Ensembl:ENSG00000183833 MIM:609910; AllianceGenome:HGNC:24010
    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
    AAT1; MAATS1; SPGF51; C3orf15; CaM-IP2; SPATA26; AAT1alpha
    Summary
    Predicted to be involved in cilium movement. Predicted to be located in axoneme and motile cilium. Predicted to colocalize with radial spoke stalk. Implicated in spermatogenic failure 51. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 9.1), spleen (RPKM 7.0) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    3q13.33
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (119703022..119767102)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (122422727..122486822)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119421869..119485949)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20320 Neighboring gene uncharacterized LOC105374063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20321 Neighboring gene popeye domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20322 Neighboring gene uncharacterized LOC105374064 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:119419489-119420688 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:119421355-119422034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20325 Neighboring gene cytochrome c oxidase copper chaperone COX17 Neighboring gene Sharpr-MPRA regulatory region 6912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:119528543-119529046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:119534511-119535011 Neighboring gene nuclear receptor subfamily 1 group I member 2 Neighboring gene PHB1 pseudogene 8 Neighboring gene glycogen synthase kinase 3 beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20328 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:119691277-119691494 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:119722393-119722919 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:119722920-119723445 Neighboring gene PARL pseudogene 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp781A2221

    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 axonemal central apparatus assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of radial spoke stalk ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    cilia- and flagella-associated protein 91
    Names
    AAT-1
    AAT1-alpha
    AMY-1-associating protein expressed in testis 1
    MYCBP associated and testis expressed 1
    MYCBP-associated, testis expressed 1
    MYCBP-binding protein
    MYCBP/AMY-1-associated testis-expressed protein 1
    MYCBP/AMY-1-associated, testis expressed 1
    protein MAATS1
    spermatogenesis associated 26

    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_001320316.2NP_001307245.2  cilia- and flagella-associated protein 91 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, resulting in a distinct 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC069444, AC117466
      Conserved Domains (1) summary
      pfam14738
      Location:171323
      PaaSYMP; Solute carrier (proton/amino acid symporter), TRAMD3 or PAT1
    2. NM_001320317.2NP_001307246.2  cilia- and flagella-associated protein 91 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region, resulting in a distinct 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC069444, AC117466
      Conserved Domains (1) summary
      pfam14738
      Location:129281
      PaaSYMP; Solute carrier (proton/amino acid symporter), TRAMD3 or PAT1
    3. NM_001320318.2NP_001307247.2  cilia- and flagella-associated protein 91 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC069444, AC117466
      Conserved Domains (1) summary
      pfam14738
      Location:65217
      PaaSYMP; Solute carrier (proton/amino acid symporter), TRAMD3 or PAT1
    4. NM_033364.4NP_203528.3  cilia- and flagella-associated protein 91 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC069444, AC117466
      Consensus CDS
      CCDS2994.1
      UniProtKB/Swiss-Prot
      A0AVK2, A8K1J9, B3KP23, B4DG52, B4DZ14, C9JUG4, Q68DX2, Q7Z4T9, Q8TD41, Q96A45, Q96JE8
      Related
      ENSP00000273390.5, ENST00000273390.9
      Conserved Domains (2) summary
      pfam14738
      Location:191343
      PaaSYMP; Solute carrier (proton/amino acid symporter), TRAMD3 or PAT1
      cl25732
      Location:414628
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      119703022..119767102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      122422727..122486822
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)