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

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: 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, Nov 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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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?
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.

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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 Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC156606P1 (e-PCR)
- UniSTS:271408

RH46147 (e-PCR)
- UniSTS:82017

RH92245 (e-PCR)
- UniSTS:83561

AFMa085wg9 (e-PCR)
- UniSTS:16364

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)

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
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
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
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