Format

Send to:

Choose Destination

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

Gene ID: 89876, updated on 11-Jul-2021

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
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
Expression
Biased expression in testis (RPKM 9.1), spleen (RPKM 7.0) and 13 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CFAP91 in Genome Data Viewer
Location:
3q13.33
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (119703022..119767102)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119421869..119485949)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374063 Neighboring gene uncharacterized LOC105374064 Neighboring gene cytochrome c oxidase copper chaperone COX17 Neighboring gene nuclear receptor subfamily 1 group I member 2 Neighboring gene prohibitin pseudogene 8 Neighboring gene glycogen synthase kinase 3 beta Neighboring gene presenilin associated rhomboid like pseudogene

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

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 cilium movement ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 

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
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011513277.1XP_011511579.1  cilia- and flagella-associated protein 91 isoform X1

    UniProtKB/Swiss-Prot
    Q7Z4T9
    Conserved Domains (1) summary
    pfam14738
    Location:65217
    PaaSYMP; Solute carrier (proton/amino acid symporter), TRAMD3 or PAT1

RNA

  1. XR_924211.1 RNA Sequence

    Related
    ENST00000482573.5
  2. XR_924210.1 RNA Sequence

  3. XR_001740355.1 RNA Sequence

  4. XR_001740354.1 RNA Sequence

Support Center