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

Gene ID: 89876, updated on 5-Mar-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
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
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Genomic context

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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

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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. 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 (15) 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
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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_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z4T9.3 GenPept UniProtKB/Swiss-Prot:Q7Z4T9

Gene LinkOut

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