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

    Gene ID: 89876, updated on 28-Oct-2024

    Summary

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    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
    Involved in axonemal central apparatus assembly and spermatogenesis. Predicted to be located in motile cilium and radial spoke stalk. Implicated in spermatogenic failure 51. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in testis (RPKM 9.1), spleen (RPKM 7.0) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP91 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (119703022..119767102)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (122422727..122486822)
    RS_2024_09 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 cAMP effector 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

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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. In vivo complex formation of oxidized alpha(1)-antitrypsin and LDL. Mashiba S, et al. Arterioscler Thromb Vasc Biol, 2001 Nov. PMID 11701469
    2. Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. Martinez G, et al. J Med Genet, 2020 Oct. PMID 32161152
    3. Structure and characterization of AAT-1 isoforms. Matsuda E, et al. Biol Pharm Bull, 2005 May. PMID 15863901
    4. Are polymorphic markers within the alpha-1-antitrypsin gene associated with risk of human immunodeficiency virus disease? Hayes VM, et al. J Infect Dis, 2003 Oct 15. PMID 14551891
    5. Progression of atherosclerosis is associated with variation in the alpha1-antitrypsin gene. Talmud PJ, et al. Arterioscler Thromb Vasc Biol, 2003 Apr 1. PMID 12692006

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
      Title: Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
    2. A hydrophobic groove near the exposed residue 213 allows AAT to entrap gemfibrozil (but not fenofibrate), preventing PPARalpha activation. 2 independent studies support a protective role for AAT in established coronary artery atherogenesis progression.
      Title: Progression of atherosclerosis is associated with variation in the alpha1-antitrypsin gene.
    3. Allelic variants of the M2 and A332A haplotypes of the human alpha-1-antitrypsin (AAT) gene are associated with human immunodeficiency virus (HIV) infection in 2 African-based populations from HIV-pandemic sub-Saharan Africa.
      Title: Are polymorphic markers within the alpha-1-antitrypsin gene associated with risk of human immunodeficiency virus disease?
    4. identified a novel AMY-1-binding protein, AAT-1, and determined its expression profiles, genes, and cellular localization; results showed that AAT-1 was specifically expressed in the testis throughout spermatogenesis and was also present in mature sperm
      Title: AAT-1, a novel testis-specific AMY-1-binding protein, forms a quaternary complex with AMY-1, A-kinase anchor protein 84, and a regulatory subunit of cAMP-dependent protein kinase and is phosphorylated by its kinase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 51
    MedGen: C5543033 OMIM: 619177 GeneReviews: Not available
    		Compare labs

    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

    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

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    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)

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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_001320316.2 → NP_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:171 → 323
      PaaSYMP; Solute carrier (proton/amino acid symporter), TRAMD3 or PAT1

    2. NM_001320317.2 → NP_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:129 → 281
      PaaSYMP; Solute carrier (proton/amino acid symporter), TRAMD3 or PAT1

    3. NM_001320318.2 → NP_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:65 → 217
      PaaSYMP; Solute carrier (proton/amino acid symporter), TRAMD3 or PAT1

    4. NM_033364.4 → NP_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:191 → 343
      PaaSYMP; Solute carrier (proton/amino acid symporter), TRAMD3 or PAT1
      cl25732
      Location:414 → 628
      SMC_N; RecF/RecN/SMC N terminal domain

    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_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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z4T9.3 GenPept UniProtKB/Swiss-Prot:Q7Z4T9

    Gene LinkOut

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

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