AHI1 Abelson helper integration site 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AHI1provided by HGNC
Official Full Name: Abelson helper integration site 1provided by HGNC
Primary source: HGNC:HGNC:21575
See related: Ensembl:ENSG00000135541 MIM:608894; AllianceGenome:HGNC:21575
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ORF1; AHI-1; JBTS3; dJ71N10.1
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]
Expression: Broad expression in testis (RPKM 9.3), adrenal (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q23.3

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (135283532..135497740, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (136471820..136685994, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (135604670..135818878, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Abelson Helper Integration Site 1 haplotypes and peripheral blood expression associates with lithium response and immunomodulation in bipolar patients.
Title: Abelson Helper Integration Site 1 haplotypes and peripheral blood expression associates with lithium response and immunomodulation in bipolar patients.
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Title: Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
The proband of family 1 with Joubert syndrome was found to harbor homozygous c.2072delT (p.F691S*fs19) frameshift variant of the AHI1 gene, which may cause premature termination of translation of the Abelson helper integration site 1 after the 691st amino acid
Title: [Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome].
An early event of AHI1 reduction in the body of AD patients was observed. Serum AHI1 may be valuable for early diagnosis of Alzheimer disease
Title: Reduction of AHI1 in the serum of Taiwanese with probable Alzheimer's disease.
Two copies of the MS risk allele within AHI1 (rs11154801) is associated with increased relapses among children and adults.
Title: The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults.
Elevated ORF1p expression is associated with tumor progression. ROS experimentally induce ORF1p expression and promote migration in bladder cancer cells.
Title: LINE-1 ORF1 Protein Is Up-regulated by Reactive Oxygen Species and Associated with Bladder Urothelial Carcinoma Progression.
Kidney disease occurs in up to one third of patients with Joubert syndrome, most commonly in those with mutations in CEP290, TMEM67, and AHI1.
Title: Prospective Evaluation of Kidney Disease in Joubert Syndrome.
study determined that variants in the AHI1 gene can cause non-syndromic retinitis pigmentosa (RP) next to Joubert syndrome;, patients with RP and with pathogenic AHI1 variants have a late onset of disease and mild progression
Title: Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
Jbn expression correlates with the proliferation, invasive potential and invasion strategy of the tested tumor cells, and that its downregulation reduces their capability of migrating and invading the extracellular matrix
Title: The product of the human AHI-1 (Abelson helper integration site) gene: experimental in vitro data point to its involvement in tumor cell invasion.
Results identified 74 somatic insertions in squamous cell carcinoma of the esophagus (SCC); 12 of them appeared to be somatic, not genetically inherited, and sub-clonal in the adjacent normal esophagus, while clonal in the tumor. These results indicate that L1 retrotransposition is active in SCC of the esophagus and that insertion events are present in histologically NE that expands clonally in the subsequent tumors.
Title: Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Joubert syndrome 3 MedGen: C1837713 OMIM: 608629 GeneReviews: Joubert Syndrome	Compare labs

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80542 (e-PCR)
- UniSTS:86039

AFMa074zg9 (e-PCR)
- UniSTS:1060

WI-15947 (e-PCR)
- UniSTS:71976

RH104050 (e-PCR)
- UniSTS:98375

AL031217 (e-PCR)
- UniSTS:2912

RH69238 (e-PCR)
- UniSTS:6505

AL031220 (e-PCR)
- UniSTS:45929

SHGC-36080 (e-PCR)
- UniSTS:30608

RH119659 (e-PCR)
- UniSTS:133028

SHGC-54149 (e-PCR)
- UniSTS:70309

RH46754 (e-PCR)
- UniSTS:73126

A007F37 (e-PCR)
- UniSTS:61631

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor protein tyrosine kinase signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in central nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cloaca development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in hindbrain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in morphogenesis of a polarized epithelium	ISS Inferred from Sequence or Structural Similarity more info
involved_in motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in otic vesicle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in photoreceptor cell outer segment organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of polarized epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of receptor internalization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in pronephric nephron tubule morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in retina layer formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in specification of axis polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of MKS complex	ISS Inferred from Sequence or Structural Similarity more info
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in non-motile cilium	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: jouberin

Names: abelson helper integration site 1 protein homolog; contatins SH3 and WD40 domains

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008643.2 RefSeqGene

Range

5026..219234

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001134830.2 → NP_001128302.1 jouberin isoform a

See identical proteins and their annotated locations for NP_001128302.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5', compared to variant 1. Variants 1-3 and 5 all encode the same isoform (a).

Source sequence(s)

AI300295, AJ459824, AL023693

Consensus CDS

CCDS47483.1

UniProtKB/Swiss-Prot

E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2

UniProtKB/TrEMBL

A0A7P0T8H6

Related

ENSP00000356774.4, ENST00000367800.8

Conserved Domains (3) summary

cd11812
Location:1055 → 1106

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)

sd00039
Location:612 → 652

7WD40; WD40 repeat [structural motif]

cl25539
Location:611 → 907

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001134831.2 → NP_001128303.1 jouberin isoform a

See identical proteins and their annotated locations for NP_001128303.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 and 5 all encode the same isoform (a).

Source sequence(s)

AI300295, AJ459824, AL023693, AY133243

Consensus CDS

CCDS47483.1

UniProtKB/Swiss-Prot

E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2

UniProtKB/TrEMBL

A0A7P0T8H6

Related

ENSP00000265602.6, ENST00000265602.11

Conserved Domains (3) summary

cd11812
Location:1055 → 1106

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)

sd00039
Location:612 → 652

7WD40; WD40 repeat [structural motif]

cl25539
Location:611 → 907

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001134832.2 → NP_001128304.1 jouberin isoform b

See identical proteins and their annotated locations for NP_001128304.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and the 3' coding region, compared to variant 1. The resulting isoform (b) contains a distinct C-terminus, compared to isoform a.

Source sequence(s)

AJ459824, AJ459825

Consensus CDS

CCDS47484.1

UniProtKB/TrEMBL

A0A7P0TA48

Related

ENSP00000322478.6, ENST00000327035.10

Conserved Domains (3) summary

COG2319
Location:597 → 919

WD40; WD40 repeat [General function prediction only]

sd00039
Location:612 → 652

7WD40; WD40 repeat [structural motif]

cl02567
Location:611 → 907

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001350503.2 → NP_001337432.1 jouberin isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variants 1-3, encodes isoform a.

Source sequence(s)

AL023693, AL049552, AL133544

Consensus CDS

CCDS47483.1

UniProtKB/Swiss-Prot

E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2

UniProtKB/TrEMBL

A0A7P0T8H6

Related

ENSP00000504965.1, ENST00000681841.1

Conserved Domains (3) summary

cd11812
Location:1055 → 1106

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)

sd00039
Location:612 → 652

7WD40; WD40 repeat [structural motif]

cl25539
Location:611 → 907

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001350504.2 → NP_001337433.1 jouberin isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (6) encodes isoform c.

Source sequence(s)

AL023693, AL049552, AL133544

Consensus CDS

CCDS94006.1

UniProtKB/TrEMBL

A0A7P0T959, A0A7P0T9I7

Related

ENSP00000505502.1, ENST00000679925.1

Conserved Domains (3) summary

cd11812
Location:1055 → 1106

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)

sd00039
Location:612 → 652

7WD40; WD40 repeat [structural motif]

cl25539
Location:611 → 907

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_017651.5 → NP_060121.3 jouberin isoform a

See identical proteins and their annotated locations for NP_060121.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5', compared to variant 1. Variants 1-3 and 5 all encode the same isoform (a).

Source sequence(s)

AI300295, AJ459824, AL023693

Consensus CDS

CCDS47483.1

UniProtKB/Swiss-Prot

E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2

UniProtKB/TrEMBL

A0A7P0T8H6

Related

ENSP00000388650.2, ENST00000457866.6

Conserved Domains (3) summary

cd11812
Location:1055 → 1106

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)

sd00039
Location:612 → 652

7WD40; WD40 repeat [structural motif]

cl25539
Location:611 → 907

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

135283532..135497740 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047418943.1 → XP_047274899.1 jouberin isoform X4

UniProtKB/TrEMBL

A0A7P0T959, A0A7P0T9I7

Related

ENSP00000504890.1, ENST00000679742.1
XM_011535911.4 → XP_011534213.1 jouberin isoform X1

See identical proteins and their annotated locations for XP_011534213.1

UniProtKB/Swiss-Prot

E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2

UniProtKB/TrEMBL

A0A7P0T8H6

Conserved Domains (3) summary

cd11812
Location:1055 → 1106

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)

sd00039
Location:612 → 652

7WD40; WD40 repeat [structural motif]

cl25539
Location:611 → 907

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_047418942.1 → XP_047274898.1 jouberin isoform X4

UniProtKB/TrEMBL

A0A7P0T959, A0A7P0T9I7
XM_011535910.4 → XP_011534212.1 jouberin isoform X1

See identical proteins and their annotated locations for XP_011534212.1

UniProtKB/Swiss-Prot

E1P584, Q4FD35, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2

UniProtKB/TrEMBL

A0A7P0T8H6

Related

ENSP00000506005.1, ENST00000681522.1

Conserved Domains (3) summary

cd11812
Location:1055 → 1106

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)

sd00039
Location:612 → 652

7WD40; WD40 repeat [structural motif]

cl25539
Location:611 → 907

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_047418940.1 → XP_047274896.1 jouberin isoform X3

UniProtKB/TrEMBL

A0A7P0T9I7, A0A7P0T9M6

Related

ENSP00000505663.1, ENST00000679943.1
XM_047418939.1 → XP_047274895.1 jouberin isoform X3

UniProtKB/TrEMBL

A0A7P0T9I7, A0A7P0T9M6
XM_047418941.1 → XP_047274897.1 jouberin isoform X3

UniProtKB/TrEMBL

A0A7P0T9I7, A0A7P0T9M6
XM_017010979.3 → XP_016866468.1 jouberin isoform X2

UniProtKB/TrEMBL

A0A7P0T7Z8, A0A7P0T9I7

Related

ENSP00000504895.1, ENST00000681670.1

Conserved Domains (4) summary

cd11812
Location:1055 → 1106

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)

COG2319
Location:597 → 919

WD40; WD40 repeat [General function prediction only]

sd00039
Location:612 → 652

7WD40; WD40 repeat [structural motif]

cl02567
Location:611 → 907

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_024446480.2 → XP_024302248.1 jouberin isoform X5

UniProtKB/TrEMBL

A0A7P0TA48

Related

ENSP00000506009.1, ENST00000680184.1

Conserved Domains (2) summary

sd00039
Location:612 → 652

7WD40; WD40 repeat [structural motif]

cl25539
Location:611 → 907

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_047418944.1 → XP_047274900.1 jouberin isoform X6

UniProtKB/TrEMBL

A0A7P0T9Q2, A0A7P0TA48

Related

ENSP00000506261.1, ENST00000679622.1
XM_047418945.1 → XP_047274901.1 jouberin isoform X7

UniProtKB/TrEMBL

A0A7P0TA48
XM_017010984.3 → XP_016866473.1 jouberin isoform X7

UniProtKB/TrEMBL

A0A7P0TA48

Conserved Domains (3) summary

COG2319
Location:597 → 919

WD40; WD40 repeat [General function prediction only]

sd00039
Location:612 → 652

7WD40; WD40 repeat [structural motif]

cl02567
Location:611 → 907

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_047418946.1 → XP_047274902.1 jouberin isoform X7

UniProtKB/TrEMBL

A0A7P0TA48

Related

ENST00000681945.1