• Gene id: 79932

Gene Summary

• Gene Symbol: KIAA0319L   Gene   UCSC   Ensembl
• Aliases: AAVR, AAVRL
• Gene name: KIAA0319 like
• Alternate names: dyslexia-associated protein KIAA0319-like protein, AAV receptor, AAV receptor like, adeno-associated virus receptor, polycystic kidney disease 1-related,
• Gene location: 1p34.3 (35557602: 35433489)     Exons: 26     NC_000001.11
• Gene summary(Entrez): This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]
• OMIM: 613535

Protein Summary

• Protein general information: Q8IZA0  
  • Name: Dyslexia associated protein KIAA0319 like protein (Adeno associated virus receptor) (AAVR)
  • Length: 1049  
  • Mass: 115658
  • Tissue specificity: Expressed in cortical neurons in the brain cortex (at protein level). {ECO
• Sequence:

  MEKRLGVKPNPASWILSGYYWQTSAKWLRSLYLFYTCFCFSVLWLSTDASESRCQQGKTQFGVGLRSGGENHLWL
  LEGTPSLQSCWAACCQDSACHVFWWLEGMCIQADCSRPQSCRAFRTHSSNSMLVFLKKFQTADDLGFLPEDDVPH
  LLGLGWNWASWRQSPPRAALRPAVSSSDQQSLIRKLQKRGSPSDVVTPIVTQHSKVNDSNELGGLTTSGSAEVHK
  AITISSPLTTDLTAELSGGPKNVSVQPEISEGLATTPSTQQVKSSEKTQIAVPQPVAPSYSYATPTPQASFQSTS
  APYPVIKELVVSAGESVQITLPKNEVQLNAYVLQEPPKGETYTYDWQLITHPRDYSGEMEGKHSQILKLSKLTPG
  LYEFKVIVEGQNAHGEGYVNVTVKPEPRKNRPPIAIVSPQFQEISLPTTSTVIDGSQSTDDDKIVQYHWEELKGP
  LREEKISEDTAILKLSKLVPGNYTFSLTVVDSDGATNSTTANLTVNKAVDYPPVANAGPNQVITLPQNSITLFGN
  QSTDDHGITSYEWSLSPSSKGKVVEMQGVRTPTLQLSAMQEGDYTYQLTVTDTIGQQATAQVTVIVQPENNKPPQ
  ADAGPDKELTLPVDSTTLDGSKSSDDQKIISYLWEKTQGPDGVQLENANSSVATVTGLQVGTYVFTLTVKDERNL
  QSQSSVNVIVKEEINKPPIAKITGNVVITLPTSTAELDGSKSSDDKGIVSYLWTRDEGSPAAGEVLNHSDHHPIL
  FLSNLVEGTYTFHLKVTDAKGESDTDRTTVEVKPDPRKNNLVEIILDINVSQLTERLKGMFIRQIGVLLGVLDSD
  IIVQKIQPYTEQSTKMVFFVQNEPPHQIFKGHEVAAMLKSELRKQKADFLIFRALEVNTVTCQLNCSDHGHCDSF
  TKRCICDPFWMENFIKVQLRDGDSNCEWSVLYVIIATFVIVVALGILSWTVICCCKRQKGKPKRKSKYKILDATD
  QESLELKPTSRAGIKQKGLLLSSSLMHSESELDSDDAIFTWPDREKGKLLHGQNGSVPNGQTPLKARSPREEIL

• Structural information:
  • Protein Domains: (49..12-)
    (/note="MANSC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00341-)
    (312..40-)
    (/note="PKD-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00151-)
    (409..49-)
    (/note="PKD-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00151-)
    (-)
  • Interpro: IPR013783  IPR029865  IPR013980  IPR022409  IPR000601   IPR035986  
  • Prosite: PS50986 PS50093
  • PDB: 2YRL 6IHB 6JCQ 6JCS 6NZ0
  • PDBsum: 2YRL 6IHB 6JCQ 6JCS 6NZ0
  • STRING: ENSP00000318406
• Other Databases: GeneCards:  KIAA0319L  Malacards:  KIAA0319L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 26361204
Embryo quality	MIK: 26361204
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray