• Gene id: 54806

Gene Summary

• Gene Symbol: AHI1   Gene   UCSC   Ensembl
• Aliases: AHI-1, JBTS3, ORF1, dJ71N10.1
• Gene name: Abelson helper integration site 1
• Alternate names: jouberin, abelson helper integration site 1 protein homolog, contatins SH3 and WD40 domains,
• Gene location: 6q23.3 (183635782: 183620845)     Exons: 4     NC_000001.11
• Gene summary(Entrez): This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with sev
• OMIM: 608894

Protein Summary

• Protein general information: Q8N157  
  • Name: Jouberin (Abelson helper integration site 1 protein homolog) (AHI 1)
  • Length: 1196  
  • Mass: 137115
  • Tissue specificity: Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (rena
• Sequence:

  MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIK
  ETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKV
  DSTHQKTHTKPQPGVDHQKSEKANEGREETDLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLF
  HDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPK
  PKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFMISHPMVKIHVVDEHT
  GQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL
  DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNH
  YPSTLYVTVRGLKVPDCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNK
  HLFSLNAGERGCFCLDFSHNGRILAAACASRDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSD
  GTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAILVRQFDVHKSFINSL
  CFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLR
  IMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN
  MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTK
  MQLVKQRLETVTEVIRSCAAKVNKNLSFTSPPAVSSQQSKLKQSNMLTAQEILHQFGFTQTGIISIERKPCNHQV
  DTAPTVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPP
  LSPEEKTKIEKSPAPQKQSINKNKSQDFRLGSESMTHSEMRKEQSHEDQGHIMDTRMRKNKQAGRKVTLIE

• Structural information:
  • Protein Domains: (1051..111-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR035832  IPR036028  IPR001452  IPR015943  IPR001680   IPR017986  IPR036322  
  • Prosite: PS50002 PS50082 PS50294
  • CDD: cd11812
  • PDB: 4ESR
  • PDBsum: 4ESR
  • STRING: ENSP00000356774
• Other Databases: GeneCards:  AHI1  Malacards:  AHI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036038	MKS complex	ISS	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005814	centriole	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005912	adherens junction	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0071599	otic vesicle development	ISS	biological process
GO:0039023	pronephric duct morphogenesis	ISS	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	ISS	biological process
GO:0005929	cilium	ISS	cellular component
GO:0005814	centriole	ISS	cellular component
GO:0002092	positive regulation of receptor internalization	ISS	biological process
GO:0070121	Kupffer's vesicle development	ISS	biological process
GO:0065001	specification of axis polarity	ISS	biological process
GO:0039008	pronephric nephron tubule morphogenesis	ISS	biological process
GO:0035844	cloaca development	ISS	biological process
GO:0097730	non-motile cilium	ISS	cellular component
GO:0016192	vesicle-mediated transport	ISS	biological process
GO:0070986	left/right axis specification	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0034613	cellular protein localization	ISS	biological process
GO:0030902	hindbrain development	ISS	biological process
GO:0030862	positive regulation of polarized epithelial cell differentiation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060271	cilium assembly	ISS	biological process
GO:0050795	regulation of behavior	ISS	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0035845	photoreceptor cell outer segment organization	ISS	biological process
GO:0010842	retina layer formation	ISS	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0001947	heart looping	ISS	biological process
GO:0001738	morphogenesis of a polarized epithelium	ISS	biological process

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Joubert syndrome	KEGG:H00530
Autism spectrum disorder	PMID:18782849
Joubert syndrome	PMID:17409309
type 2 diabetes mellitus	PMID:20045148
obesity	PMID:20045148
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R