AHI1

GENE INFORMATION

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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 (Chromosome progress)

Cytoband

q23.3

Chromosome location (bp)

135604670 - 135818914

Ensembl

ENSG00000135541 (version 73.37)

Entrez gene

54806

UniProt

Q8N157 (UniProt - Evidence at protein level)

neXtProt

NX_Q8N157

Antibodypedia

AHI1 antibodies
 

PROTEIN VIEW

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 « 
 
AHI1-001
 
AHI1-002
 
AHI1-003
 
AHI1-004
 
AHI1-005
 
AHI1-008
 
AHI1-009
 
AHI1-010
 
AHI1-011
 
AHI1-012
 
AHI1-015
 
AHI1-016
 
AHI1-018
 
AHI1-201
 
AHI1-202
 
 » 
 
 
 
 

PROTEIN INFORMATION

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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
AHI1-002 ENSP00000435710
ENST00000475846
G8JLN6
Show all »
Show » Show » 542 61.7 No 0
AHI1-003 ENSP00000322478
ENST00000327035
Q8N157
Show all »
Show » 1053 120.9 No 0
AHI1-004 ENSP00000433017
ENST00000488690
Q9NQN3
Show all »
54 6.4 No 0
AHI1-005 ENSP00000436071
ENST00000528103
E9PI51
Show all »
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
AHI1-010 ENSP00000432167
ENST00000531788
Q8N157
Show all »
Show » 609 70 No 0
AHI1-011 ENSP00000265602
ENST00000265602
Q8N157
Show all »
Show » Show » 1196 137.1 No 0
AHI1-012 ENSP00000433063
ENST00000524469
E9PML3
Show all »
288 32.9 No 0
AHI1-015 ENSP00000436516
ENST00000534469
E9PI51
Show all »
48 5.6 No 0
AHI1-016 ENSP00000434697
ENST00000529865
129 14.3 No 0
AHI1-018 ENSP00000433864
ENST00000527681
29 3.1 No 0
AHI1-201 ENSP00000356772
ENST00000367798
Q9NQN3
Show all »
54 6.4 No 0
AHI1-202 ENSP00000416867
ENST00000417892
G8JLN6
Show all »
Show » Show » 498 57 No 0