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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

The majority of normal tissues showed moderate cytoplasmic positivity. Renal tubules, duodenum and gall bladder exhibited strong staining. Glial cells, muscle tissues, soft tissues, pneumocytes and renal glomeruli were in general negative.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA046684
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 78.38)

Entrez gene

54806

UniProt

Q8N157 (UniProt - Evidence at protein level)

neXtProt

NX_Q8N157

Antibodypedia

AHI1 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000265602
 
ENST00000327035
 
ENST00000367799
 
ENST00000367800
 
ENST00000457866
 
ENST00000488690
 
ENST00000524469
 
ENST00000528103
 
ENST00000529865
 
ENST00000534469
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AHI1-001 ENSP00000356773
ENST00000367799
Show » Show » 668 76.3 No 0
AHI1-003 ENSP00000322478
ENST00000327035
Q8N157
Show all »
Show » Show » 1053 120.9 No 0
AHI1-004 ENSP00000433017
ENST00000488690
Q9NQN3
Show all »
Show » 54 6.4 No 0
AHI1-005 ENSP00000436071
ENST00000528103
E9PI51
Show all »
Show » 48 5.6 No 0
AHI1-008 ENSP00000356774
ENST00000367800
Q8N157
Show all »
Show » Show » 1196 137.1 No 0
AHI1-009 ENSP00000388650
ENST00000457866
Q8N157
Show all »
Show » Show » 1196 137.1 No 0
AHI1-011 ENSP00000265602
ENST00000265602
Q8N157
Show all »
Show » Show » 1196 137.1 No 0
AHI1-012 ENSP00000433063
ENST00000524469
E9PML3
Show all »
Show » 288 32.9 No 0
AHI1-015 ENSP00000436516
ENST00000534469
E9PI51
Show all »
Show » 48 5.6 No 0
AHI1-016 ENSP00000434697
ENST00000529865
Show » 129 14.3 No 0