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HUMAN:AHI1

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) AHI1
Protein Name(s) Jouberin

Abelson helper integration site 1 protein homolog AHI-1

External Links
UniProt Q8N157
EMBL AJ459824
AJ459825
AJ606362
DQ090887
AL136797
AK092262
AL023693
AL049552
AL133544
AL049552
AL023693
AL133544
AL133544
AL023693
AL049552
CH471051
CH471051
BC029417
BC065712
BC094800
CCDS CCDS47483.1
CCDS47484.1
RefSeq NP_001128302.1
NP_001128303.1
NP_001128304.1
NP_060121.3
UniGene Hs.386684
PDB 4ESR
PDBsum 4ESR
ProteinModelPortal Q8N157
SMR Q8N157
BioGrid 120163
IntAct Q8N157
MINT MINT-4716361
STRING 9606.ENSP00000356774
PhosphoSite Q8N157
DMDM 73921659
MaxQB Q8N157
PaxDb Q8N157
PRIDE Q8N157
DNASU 54806
Ensembl ENST00000265602
ENST00000327035
ENST00000367800
ENST00000457866
ENST00000531788
GeneID 54806
KEGG hsa:54806
UCSC uc003qgh.3
uc003qgl.3
CTD 54806
GeneCards GC06M135646
GeneReviews AHI1
HGNC HGNC:21575
HPA HPA046684
MIM 608629
608894
neXtProt NX_Q8N157
Orphanet 475
220493
PharmGKB PA134874587
eggNOG COG2319
GeneTree ENSGT00530000063479
HOVERGEN HBG080824
InParanoid Q8N157
KO K16740
OMA LIHTKDS
OrthoDB EOG7ZPNJZ
PhylomeDB Q8N157
TreeFam TF329226
SignaLink Q8N157
ChiTaRS AHI1
GeneWiki AHI1
GenomeRNAi 54806
NextBio 57511
PRO PR:Q8N157
Proteomes UP000005640
Bgee Q8N157
CleanEx HS_AHI1
ExpressionAtlas Q8N157
Genevestigator Q8N157
GO GO:0005912
GO:0005911
GO:0005814
GO:0005813
GO:0036064
GO:0005929
GO:0031513
GO:0001750
GO:0072372
GO:0036038
GO:0042802
GO:0034613
GO:0007417
GO:0042384
GO:0060271
GO:0035844
GO:0001947
GO:0030902
GO:0070121
GO:0070986
GO:0001738
GO:0043066
GO:0071599
GO:0035845
GO:0030862
GO:0002092
GO:0045944
GO:0039023
GO:0039008
GO:0033365
GO:0050795
GO:0010842
GO:0065001
GO:0007169
GO:0006903
GO:0016192
Gene3D 2.130.10.10
InterPro IPR001452
IPR015943
IPR001680
IPR017986
Pfam PF00018
PF00400
PRINTS PR00452
SMART SM00326
SM00320
SUPFAM SSF50044
SSF50978
PROSITE PS50002
PS50082
PS50294

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0045597

positive regulation of cell differentiation

PMID:18936234[1]

ECO:0000316

UniProtKB:Q8NEY0


P

Fig 8 C: Show genetic interaction between Ahi1 and BCR-ABL. Figure: 8 E

complete

part_of

GO:0005929

cilium

PMID:18633336[2]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(CL:1000454)

Seeded From UniProt

complete

involved_in

GO:0071599

otic vesicle development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0070986

left/right axis specification

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q07DM1

P

Seeded From UniProt

complete

involved_in

GO:0070121

Kupffer's vesicle development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q07DM1

P

Seeded From UniProt

complete

involved_in

GO:0065001

specification of axis polarity

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0060271

cilium assembly

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0050795

regulation of behavior

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0043066

negative regulation of apoptotic process

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0039023

pronephric duct morphogenesis

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q07DM1

P

Seeded From UniProt

complete

involved_in

GO:0039008

pronephric nephron tubule morphogenesis

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

part_of

GO:0036064

ciliary basal body

PMID:18633336[2]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(CL:1000454)

Seeded From UniProt

complete

part_of

GO:0036038

MKS complex

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

C

Seeded From UniProt

complete

involved_in

GO:0035845

photoreceptor cell outer segment organization

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0035844

cloaca development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0034613

cellular protein localization

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

part_of

GO:0097730

non-motile cilium

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

C

Seeded From UniProt

complete

involved_in

GO:0030902

hindbrain development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0030862

positive regulation of polarized epithelial cell differentiation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0016192

vesicle-mediated transport

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0010842

retina layer formation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0007417

central nervous system development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0007169

transmembrane receptor protein tyrosine kinase signaling pathway

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

part_of

GO:0005929

cilium

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

C

Seeded From UniProt

complete

part_of

GO:0005912

adherens junction

PMID:18633336[2]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(CL:1000454)

Seeded From UniProt

complete

part_of

GO:0005911

cell-cell junction

PMID:18633336[2]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(CL:1000454)

Seeded From UniProt

complete

part_of

GO:0005814

centriole

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

C

Seeded From UniProt

complete

part_of

GO:0005813

centrosome

PMID:18633336[2]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(CL:1000454)

Seeded From UniProt

complete

involved_in

GO:0002092

positive regulation of receptor internalization

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0001947

heart looping

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0001738

morphogenesis of a polarized epithelium

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:23532844[3]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q8N157

F

Seeded From UniProt

complete

involved_in

GO:0097711

ciliary basal body-plasma membrane docking

Reactome:R-HSA-5620912

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

Reactome:R-HSA-5638009
Reactome:R-HSA-5626681
Reactome:R-HSA-5617816

ECO:0000304

author statement supported by traceable reference used in manual assertion



C

Seeded From UniProt

complete

part_of

GO:0005856

cytoskeleton

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0206

C

Seeded From UniProt

complete

part_of

GO:0042995

cell projection

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0966

C

Seeded From UniProt

complete

part_of

GO:0030054

cell junction

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0965

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963

C

Seeded From UniProt

complete

part_of

GO:0005929

cilium

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0969

C

Seeded From UniProt

complete

involved_in

GO:0030030

cell projection organization

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0970

P

Seeded From UniProt

complete

involved_in

GO:0030154

cell differentiation

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0221

P

Seeded From UniProt

complete

involved_in

GO:0007275

multicellular organism development

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0217

P

Seeded From UniProt

complete

part_of

GO:0005814

centriole

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0046

C

Seeded From UniProt

complete

part_of

GO:0005912

adherens junction

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0009

C

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ Zhou, LL et al. (2008) AHI-1 interacts with BCR-ABL and modulates BCR-ABL transforming activity and imatinib response of CML stem/progenitor cells. J. Exp. Med. 205 2657-71 PubMed GONUTS page
  2. ↑ 2.0 2.1 2.2 2.3 2.4 Eley, L et al. (2008) Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int. 74 1139-49 PubMed GONUTS page
  3. ↑ Tuz, K et al. (2013) The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J. Biol. Chem. 288 13676-94 PubMed GONUTS page
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