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AHI1

GENERAL INFORMATION

Gene name

 AHI1

Gene description

 Abelson helper integration site 1

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 10
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Mixed
HPA (normal tissue):Mixed

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic expression with granular pattern in most tissues, including renal tubules in kidney.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA046684
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (unfavourable) and pancreatic cancer (favourable).
Renal cancer p<0.001
Pancreatic cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA046684

GENE INFORMATION

Gene name

 AHI1 (HGNC Symbol)

Synonyms

 FLJ20069, JBTS3, ORF1

Description

 Abelson helper integration site 1 (HGNC Symbol)

Entrez gene summary

 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 several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Chromosome

 6

Cytoband

 q23.3

Chromosome location (bp)

 135283532 - 135497776

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000135541 (version 83.38)

Entrez gene

 54806

UniProt

 Q8N157 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8N157

Antibodypedia

 AHI1 antibodies

PROTEIN BROWSER
AHI1-001
AHI1-003
AHI1-004
AHI1-005
AHI1-008
AHI1-009
AHI1-011
AHI1-012
AHI1-015
AHI1-016

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AHI1-001
ENSP00000356773
ENST00000367799
H0Y343 [Direct mapping]
Jouberin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 668 aa
76.3 kDa 		No 0
AHI1-003
ENSP00000322478
ENST00000327035
Q8N157 [Direct mapping]
Jouberin
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001738 [morphogenesis of a polarized epithelium]
GO:0001947 [heart looping]
GO:0002092 [positive regulation of receptor internalization]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005929 [cilium]
GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway]
GO:0007417 [central nervous system development]
GO:0010842 [retina layer formation]
GO:0016192 [vesicle-mediated transport]
GO:0030862 [positive regulation of polarized epithelial cell differentiation]
GO:0030902 [hindbrain development]
GO:0031513 [nonmotile primary cilium]
GO:0034613 [cellular protein localization]
GO:0035844 [cloaca development]
GO:0035845 [photoreceptor cell outer segment organization]
GO:0036038 [TCTN-B9D complex]
GO:0036064 [ciliary basal body]
GO:0039008 [pronephric nephron tubule morphogenesis]
GO:0039023 [pronephric duct morphogenesis]
GO:0042384 [cilium assembly]
GO:0042802 [identical protein binding]
GO:0043066 [negative regulation of apoptotic process]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0050795 [regulation of behavior]
GO:0060271 [cilium morphogenesis]
GO:0065001 [specification of axis polarity]
GO:0070121 [Kupffer's vesicle development]
GO:0070986 [left/right axis specification]
GO:0071599 [otic vesicle development]
GO:0072372 [primary cilium]
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 1053 aa
120.9 kDa 		No 0
AHI1-004
ENSP00000433017
ENST00000488690
Q9NQN3 [Direct mapping]
Jouberin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 54 aa
6.4 kDa 		No 0
AHI1-005
ENSP00000436071
ENST00000528103
E9PI51 [Direct mapping]
Jouberin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 48 aa
5.6 kDa 		No 0
AHI1-008
ENSP00000356774
ENST00000367800
Q8N157 [Direct mapping]
Jouberin
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001738 [morphogenesis of a polarized epithelium]
GO:0001750 [photoreceptor outer segment]
GO:0001947 [heart looping]
GO:0002092 [positive regulation of receptor internalization]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005929 [cilium]
GO:0006903 [vesicle targeting]
GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway]
GO:0007417 [central nervous system development]
GO:0010628 [positive regulation of gene expression]
GO:0010842 [retina layer formation]
GO:0016192 [vesicle-mediated transport]
GO:0030862 [positive regulation of polarized epithelial cell differentiation]
GO:0030902 [hindbrain development]
GO:0031513 [nonmotile primary cilium]
GO:0033365 [protein localization to organelle]
GO:0034613 [cellular protein localization]
GO:0035844 [cloaca development]
GO:0035845 [photoreceptor cell outer segment organization]
GO:0036038 [TCTN-B9D complex]
GO:0036064 [ciliary basal body]
GO:0039008 [pronephric nephron tubule morphogenesis]
GO:0039023 [pronephric duct morphogenesis]
GO:0042384 [cilium assembly]
GO:0042802 [identical protein binding]
GO:0043066 [negative regulation of apoptotic process]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0050795 [regulation of behavior]
GO:0060041 [retina development in camera-type eye]
GO:0060271 [cilium morphogenesis]
GO:0065001 [specification of axis polarity]
GO:0070121 [Kupffer's vesicle development]
GO:0070986 [left/right axis specification]
GO:0071599 [otic vesicle development]
GO:0072372 [primary cilium]
Show all
 1196 aa
137.1 kDa 		No 0
AHI1-009
ENSP00000388650
ENST00000457866
Q8N157 [Direct mapping]
Jouberin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001738 [morphogenesis of a polarized epithelium]
GO:0001947 [heart looping]
GO:0002092 [positive regulation of receptor internalization]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005929 [cilium]
GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway]
GO:0007417 [central nervous system development]
GO:0010842 [retina layer formation]
GO:0016192 [vesicle-mediated transport]
GO:0030862 [positive regulation of polarized epithelial cell differentiation]
GO:0030902 [hindbrain development]
GO:0031513 [nonmotile primary cilium]
GO:0034613 [cellular protein localization]
GO:0035844 [cloaca development]
GO:0035845 [photoreceptor cell outer segment organization]
GO:0036038 [TCTN-B9D complex]
GO:0036064 [ciliary basal body]
GO:0039008 [pronephric nephron tubule morphogenesis]
GO:0039023 [pronephric duct morphogenesis]
GO:0042384 [cilium assembly]
GO:0042802 [identical protein binding]
GO:0043066 [negative regulation of apoptotic process]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0050795 [regulation of behavior]
GO:0060271 [cilium morphogenesis]
GO:0065001 [specification of axis polarity]
GO:0070121 [Kupffer's vesicle development]
GO:0070986 [left/right axis specification]
GO:0071599 [otic vesicle development]
GO:0072372 [primary cilium]
Show all
 1196 aa
137.1 kDa 		No 0
AHI1-011
ENSP00000265602
ENST00000265602
Q8N157 [Direct mapping]
Jouberin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001738 [morphogenesis of a polarized epithelium]
GO:0001947 [heart looping]
GO:0002092 [positive regulation of receptor internalization]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005929 [cilium]
GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway]
GO:0007417 [central nervous system development]
GO:0010842 [retina layer formation]
GO:0016192 [vesicle-mediated transport]
GO:0030862 [positive regulation of polarized epithelial cell differentiation]
GO:0030902 [hindbrain development]
GO:0031513 [nonmotile primary cilium]
GO:0034613 [cellular protein localization]
GO:0035844 [cloaca development]
GO:0035845 [photoreceptor cell outer segment organization]
GO:0036038 [TCTN-B9D complex]
GO:0036064 [ciliary basal body]
GO:0039008 [pronephric nephron tubule morphogenesis]
GO:0039023 [pronephric duct morphogenesis]
GO:0042384 [cilium assembly]
GO:0042802 [identical protein binding]
GO:0043066 [negative regulation of apoptotic process]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0050795 [regulation of behavior]
GO:0060271 [cilium morphogenesis]
GO:0065001 [specification of axis polarity]
GO:0070121 [Kupffer's vesicle development]
GO:0070986 [left/right axis specification]
GO:0071599 [otic vesicle development]
GO:0072372 [primary cilium]
Show all
 1196 aa
137.1 kDa 		No 0
AHI1-012
ENSP00000433063
ENST00000524469
E9PML3 [Direct mapping]
Jouberin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 288 aa
32.9 kDa 		No 0
AHI1-015
ENSP00000436516
ENST00000534469
E9PI51 [Direct mapping]
Jouberin
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 48 aa
5.6 kDa 		No 0
AHI1-016
ENSP00000434697
ENST00000529865
H0YE01 [Direct mapping]
Jouberin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 129 aa
14.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.