MAATS1

Protein-coding gene in the species Homo sapiens
CFAP91
Identifiers
AliasesCFAP91, AAT1, AAT1alpha, C3orf15, CaM-IP2, SPATA26, MYCBP associated and testis expressed 1, MAATS1, cilia and flagella associated protein 91, SPGF51
External IDsOMIM: 609910; MGI: 2443598; HomoloGene: 33470; GeneCards: CFAP91; OMA:CFAP91 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for CFAP91
Genomic location for CFAP91
Band3q13.33Start119,703,022 bp[1]
End119,767,102 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for CFAP91
Genomic location for CFAP91
Band16|16 B3Start38,118,116 bp[2]
End38,162,505 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right uterine tube

  • bronchial epithelial cell

  • pituitary gland

  • left testis

  • anterior pituitary

  • right testis

  • mucosa of paranasal sinus

  • sperm

  • body of pancreas

  • caput epididymis
Top expressed in
  • choroidal fissure

  • utricle

  • spermatid

  • seminiferous tubule

  • spermatocyte

  • choroid plexus of fourth ventricle

  • olfactory epithelium

  • Epithelium of choroid plexus

  • lumbar subsegment of spinal cord

  • embryo
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • protein binding
Cellular component
  • cytoplasm
  • mitochondrion
  • radial spoke stalk
  • axoneme
  • motile cilium
  • cytoskeleton
  • cell projection
Biological process
  • cilium movement
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

89876

320214

Ensembl

ENSG00000183833

ENSMUSG00000022805

UniProt

Q7Z4T9

Q8BRC6

RefSeq (mRNA)

NM_033364
NM_001320316
NM_001320317
NM_001320318

NM_001081025
NM_177104

RefSeq (protein)

NP_001307245
NP_001307246
NP_001307247
NP_203528

NP_001074494

Location (UCSC)Chr 3: 119.7 – 119.77 MbChr 16: 38.12 – 38.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AMY-1-associating protein expressed in testis 1 is a protein that in humans is encoded by the MAATS1 (formerly known as C3orf15) gene.[5][6][7]


Interactions

C3orf15 has been shown to interact with MYCBP[5] and AKAP1.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000183833 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022805 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c Yukitake H, Furusawa M, Taira T, Iguchi-Ariga SM, Ariga H (Nov 2002). "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". J Biol Chem. 277 (47): 45480–92. doi:10.1074/jbc.M206201200. PMID 12223483.
  6. ^ Hayes VM, Gardiner-Garden M (Oct 2003). "Are polymorphic markers within the alpha-1-antitrypsin gene associated with risk of human immunodeficiency virus disease?". J Infect Dis. 188 (8): 1205–8. doi:10.1086/378641. PMID 14551891.
  7. ^ "Entrez Gene: C3orf15 chromosome 3 open reading frame 15".

Further reading

  • Matsuda E, Ishizaki R, Taira T, et al. (2005). "Structure and characterization of AAT-1 isoforms" (PDF). Biol. Pharm. Bull. 28 (5): 898–901. doi:10.1248/bpb.28.898. PMID 15863901.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Talmud PJ, Martin S, Steiner G, et al. (2004). "Progression of atherosclerosis is associated with variation in the alpha1-antitrypsin gene". Arterioscler. Thromb. Vasc. Biol. 23 (4): 644–9. doi:10.1161/01.ATV.0000065196.61663.8D. PMID 12692006.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Mashiba S, Wada Y, Takeya M, et al. (2001). "In vivo complex formation of oxidized alpha(1)-antitrypsin and LDL". Arterioscler. Thromb. Vasc. Biol. 21 (11): 1801–8. doi:10.1161/hq1101.098232. PMID 11701469.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.


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