• Gene id: 389813

Gene Summary

• Gene Symbol: AJM1   Gene   UCSC   Ensembl
• Aliases: C9orf172, ajm-1
• Gene name: apical junction component 1 homolog
• Alternate names: apical junction component 1 homolog, uncharacterized protein C9orf172,
• Gene location: 9q34.3 (136842477: 136847344)     Exons: 3     NC_000009.12

Protein Summary

• Protein general information: C9J069  
  • Name: Apical junction component 1 homolog
  • Length: 976  
  • Mass: 106650
• Sequence:

  MTRTDPPDLLVSTVYQDIKVATPGPASKCSPCERSVARPAEPAPFNKRHCRSFDFLEALDGPAMETLPEPPPPES
  AVPRARTREAEPRRRARSKSAPRAPPGLTPAPASPPVLPRRGREAQRAARAEASPRREPAYPALRALANELHPIK
  LQPQRGGPGRVAPLCAAAGRCAPPEPPAGPAPHVRCRLDIKPDDAVLQHATRGSRSCGPTEAAHWARPAPQFHGL
  TVPGPRHMALSRTPTPSDSYCADPRAFYCDGPLPGPRDYAERRSLPFTTPPGPTQFFYTEEPQGFRGSFAASPGP
  TFDAYYPRPYPSEELSGPSPRRMGGYYAGEVRTFPIQEPPSRSYYGEAPRAYGLPYGPRYVPEEPRAHSTARPFY
  TEDFGRYRERDVLARTYPHPRSSPAWADWGPRPYRTLQVVPPSDPDPLLASWHGGTGTSPPRLATDSRHYSRSWD
  NILAPGPRREDPLGRGRSYENLLGREVREPRGVSPEGRRPPVVVNLSTSPRRYAALSLSETSLTEKGRAGEGLGR
  NWYVTPEITITDNDLRATERPSARAWELPGGRTRPPPHAAPDGPTSGRQRSLEQLDELITDLVIDSRPTAGQASE
  PAADCLGPQLRRLLDSRPAGSGAPALAPPRSPPASAGSAEEPAAPGEAADASPEPSADEDDLMTCSNARCRRTET
  MFNACLYFKSCHSCYTYYCSRLCRREDWDAHKARCVYGRVGSVCRHVLQFCRDSGPVHRAFSRIARVGFLSRGRG
  VLFLGFPSPGSADNFLRFGLEGLLLSPTYLSLRELATHAAPLGSYARELAAAGRLYEPAECFLLSVSVAVGPGTA
  PPGTPALPAPAPRSHGPTVRKFAKVALAAGSPARPPPARSREPDMETLILTPPPGTAGLDQDGEAGRRAREVAFI
  HIQRELRLRGVFLRHEFPRVYEQLCEFVEANRRFTPTTIYPTDRRTGRPFMCMIMAASEPRALDWVASANLLDDI
  M

• Structural information:
  • Interpro: IPR038825  
  • STRING: ENSP00000412388
• Other Databases: GeneCards:  AJM1  Malacards:  AJM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045216	cell-cell junction organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)