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AHI1
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  • AHI1
PROTEIN STRUCTURE
ANTIBODIES
AND
VALIDATION
Protein structures
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

AHI1
Synonyms FLJ20069, JBTS3, ORF1
Gene descriptioni

Full gene name according to HGNC.

Abelson helper integration site 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Read more
Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Read more
Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 6
Cytoband q23.3
Chromosome location (bp) 135283407 - 135498434
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

21
Ensembl ENSG00000135541 (version 103.38)
Entrez gene 54806
HGNC HGNC:21575
UniProt Q8N157 (UniProt - Evidence at protein level)
neXtProt NX_Q8N157
Antibodypedia AHI1 antibodies


PROTEIN STRUCTUREi

The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).

In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl

Read more

Predicted


Description: Structure prediction from Alphafold project. Structure version 2

# Chains: 1      # Clinical variants: 25      # Population variants: 0

Antigens:

Off
On

Variants:

Off
Clinical
Population

Color scheme:

Confidence
Residue index
Chain name

Autorotate:

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On



PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
AHI1-201
AHI1-202
AHI1-203
AHI1-204
AHI1-205
AHI1-208
AHI1-210
AHI1-216
AHI1-218
AHI1-229
AHI1-231
AHI1-244
AHI1-245
AHI1-249
AHI1-252
AHI1-253
AHI1-256
AHI1-258
AHI1-259
AHI1-262
AHI1-264
»


PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
AHI1-201
ENSP00000265602
ENST00000265602
Q8N157 [Direct mapping]
Jouberin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
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:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005929 [cilium]
GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway]
GO:0007275 [multicellular organism development]
GO:0007417 [central nervous system development]
GO:0010842 [retina layer formation]
GO:0016192 [vesicle-mediated transport]
GO:0030030 [cell projection organization]
GO:0030054 [cell junction]
GO:0030154 [cell differentiation]
GO:0030862 [positive regulation of polarized epithelial cell differentiation]
GO:0030902 [hindbrain development]
GO:0034613 [cellular protein localization]
GO:0035844 [cloaca development]
GO:0035845 [photoreceptor cell outer segment organization]
GO:0036038 [MKS complex]
GO:0036064 [ciliary basal body]
GO:0039008 [pronephric nephron tubule morphogenesis]
GO:0039023 [pronephric duct morphogenesis]
GO:0042802 [identical protein binding]
GO:0042995 [cell projection]
GO:0043066 [negative regulation of apoptotic process]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0050795 [regulation of behavior]
GO:0060271 [cilium assembly]
GO:0065001 [specification of axis polarity]
GO:0070121 [Kupffer's vesicle development]
GO:0070986 [left/right axis specification]
GO:0071599 [otic vesicle development]
GO:0097711 [ciliary basal body-plasma membrane docking]
GO:0097730 [non-motile cilium]
Show all
1196 aa
137.1 kDa
No 0
AHI1-202
ENSP00000322478
ENST00000327035
Q8N157 [Direct mapping]
Jouberin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
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:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005929 [cilium]
GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway]
GO:0007275 [multicellular organism development]
GO:0007417 [central nervous system development]
GO:0010842 [retina layer formation]
GO:0016192 [vesicle-mediated transport]
GO:0030030 [cell projection organization]
GO:0030054 [cell junction]
GO:0030154 [cell differentiation]
GO:0030862 [positive regulation of polarized epithelial cell differentiation]
GO:0030902 [hindbrain development]
GO:0034613 [cellular protein localization]
GO:0035844 [cloaca development]
GO:0035845 [photoreceptor cell outer segment organization]
GO:0036038 [MKS complex]
GO:0036064 [ciliary basal body]
GO:0039008 [pronephric nephron tubule morphogenesis]
GO:0039023 [pronephric duct morphogenesis]
GO:0042802 [identical protein binding]
GO:0042995 [cell projection]
GO:0043066 [negative regulation of apoptotic process]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0050795 [regulation of behavior]
GO:0060271 [cilium assembly]
GO:0065001 [specification of axis polarity]
GO:0070121 [Kupffer's vesicle development]
GO:0070986 [left/right axis specification]
GO:0071599 [otic vesicle development]
GO:0097711 [ciliary basal body-plasma membrane docking]
GO:0097730 [non-motile cilium]
Show all
1053 aa
120.9 kDa
No 0
AHI1-203
ENSP00000356773
ENST00000367799
H0Y343 [Direct mapping]
Jouberin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
845 aa
97 kDa
No 0
AHI1-204
ENSP00000356774
ENST00000367800
Q8N157 [Direct mapping]
Jouberin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
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:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005929 [cilium]
GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway]
GO:0007275 [multicellular organism development]
GO:0007417 [central nervous system development]
GO:0010842 [retina layer formation]
GO:0016192 [vesicle-mediated transport]
GO:0030030 [cell projection organization]
GO:0030054 [cell junction]
GO:0030154 [cell differentiation]
GO:0030862 [positive regulation of polarized epithelial cell differentiation]
GO:0030902 [hindbrain development]
GO:0034613 [cellular protein localization]
GO:0035844 [cloaca development]
GO:0035845 [photoreceptor cell outer segment organization]
GO:0036038 [MKS complex]
GO:0036064 [ciliary basal body]
GO:0039008 [pronephric nephron tubule morphogenesis]
GO:0039023 [pronephric duct morphogenesis]
GO:0042802 [identical protein binding]
GO:0042995 [cell projection]
GO:0043066 [negative regulation of apoptotic process]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0050795 [regulation of behavior]
GO:0060271 [cilium assembly]
GO:0065001 [specification of axis polarity]
GO:0070121 [Kupffer's vesicle development]
GO:0070986 [left/right axis specification]
GO:0071599 [otic vesicle development]
GO:0097711 [ciliary basal body-plasma membrane docking]
GO:0097730 [non-motile cilium]
Show all
1196 aa
137.1 kDa
No 0
AHI1-205
ENSP00000388650
ENST00000457866
Q8N157 [Direct mapping]
Jouberin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
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:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005911 [cell-cell junction]
GO:0005912 [adherens junction]
GO:0005929 [cilium]
GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway]
GO:0007275 [multicellular organism development]
GO:0007417 [central nervous system development]
GO:0010842 [retina layer formation]
GO:0016192 [vesicle-mediated transport]
GO:0030030 [cell projection organization]
GO:0030054 [cell junction]
GO:0030154 [cell differentiation]
GO:0030862 [positive regulation of polarized epithelial cell differentiation]
GO:0030902 [hindbrain development]
GO:0034613 [cellular protein localization]
GO:0035844 [cloaca development]
GO:0035845 [photoreceptor cell outer segment organization]
GO:0036038 [MKS complex]
GO:0036064 [ciliary basal body]
GO:0039008 [pronephric nephron tubule morphogenesis]
GO:0039023 [pronephric duct morphogenesis]
GO:0042802 [identical protein binding]
GO:0042995 [cell projection]
GO:0043066 [negative regulation of apoptotic process]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0050795 [regulation of behavior]
GO:0060271 [cilium assembly]
GO:0065001 [specification of axis polarity]
GO:0070121 [Kupffer's vesicle development]
GO:0070986 [left/right axis specification]
GO:0071599 [otic vesicle development]
GO:0097711 [ciliary basal body-plasma membrane docking]
GO:0097730 [non-motile cilium]
Show all
1196 aa
137.1 kDa
No 0
AHI1-208
ENSP00000433017
ENST00000488690
Q9NQN3 [Direct mapping]
Jouberin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
54 aa
6.4 kDa
No 0
AHI1-210
ENSP00000433063
ENST00000524469
E9PML3 [Direct mapping]
Jouberin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
288 aa
32.9 kDa
No 0
AHI1-216
ENSP00000436516
ENST00000534469
E9PI51 [Direct mapping]
Jouberin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
48 aa
5.6 kDa
No 0
AHI1-218
ENSP00000506494
ENST00000679450
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1109 aa
127.1 kDa
No 0
AHI1-229
ENSP00000505502
ENST00000679925
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1168 aa
133.8 kDa
No 0
AHI1-231
ENSP00000506426
ENST00000680033
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
48 aa
5.6 kDa
No 0
AHI1-244
ENSP00000505980
ENST00000680968
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
54 aa
6.4 kDa
No 0
AHI1-245
ENSP00000505121
ENST00000681022
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1196 aa
137.1 kDa
No 0
AHI1-249
ENSP00000505093
ENST00000681301
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1145 aa
131.2 kDa
No 0
AHI1-252
ENSP00000505666
ENST00000681340
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1196 aa
137.1 kDa
No 0
AHI1-253
ENSP00000506604
ENST00000681365
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1196 aa
137.1 kDa
No 0
AHI1-256
ENSP00000506005
ENST00000681522
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1196 aa
137.1 kDa
No 0
AHI1-258
ENSP00000505250
ENST00000681596
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
48 aa
5.6 kDa
No 0
AHI1-259
ENSP00000504895
ENST00000681670
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1186 aa
135.6 kDa
No 0
AHI1-262
ENSP00000506505
ENST00000681756
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1154 aa
132 kDa
No 0
AHI1-264
ENSP00000504965
ENST00000681841
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
1196 aa
137.1 kDa
No 0

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