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B9D1
HPA
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  • SUMMARY

  • TISSUE

  • BRAIN

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  • STRUCT & INT

  • B9D1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
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.

B9D1
Synonyms B9, EPPB9, MKS9, MKSR-1
Gene descriptioni

Full gene name according to HGNC.

B9 domain containing 1
Protein classi

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

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.

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 17
Cytoband p11.2
Chromosome location (bp) 19334308 - 19378193
Number of transcriptsi

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

17
Ensembl ENSG00000108641 (version 109)
Entrez gene 27077
HGNC HGNC:24123
UniProt Q9UPM9 (UniProt - Evidence at protein level)
neXtProt NX_Q9UPM9
GeneCards B9D1
Antibodypedia B9D1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).... show less
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Cilium biogenesis/degradation
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]... show less
PROTEIN INFORMATIONi

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

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
B9D1-201
ENSP00000261499
ENST00000261499
Q9UPM9
[Direct mapping] B9 domain-containing protein 1
Show all
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
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
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0001701 [in utero embryonic development]
GO:0001944 [vasculature development]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0007224 [smoothened signaling pathway]
GO:0008158 [hedgehog receptor activity]
GO:0016020 [membrane]
GO:0030030 [cell projection organization]
GO:0032880 [regulation of protein localization]
GO:0035869 [ciliary transition zone]
GO:0036038 [MKS complex]
GO:0036064 [ciliary basal body]
GO:0042733 [embryonic digit morphogenesis]
GO:0042995 [cell projection]
GO:0043010 [camera-type eye development]
GO:0060271 [cilium assembly]
GO:0060563 [neuroepithelial cell differentiation]
Show all
204 aa
22.8 kDa
No 0
B9D1-202
ENSP00000268841
ENST00000268841
Q9UPM9
[Direct mapping] B9 domain-containing protein 1
Show all
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
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
   Congenital malformations of the urinary system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0007224 [smoothened signaling pathway]
GO:0008158 [hedgehog receptor activity]
GO:0030030 [cell projection organization]
GO:0035869 [ciliary transition zone]
GO:0036038 [MKS complex]
GO:0036064 [ciliary basal body]
GO:0042995 [cell projection]
GO:0060271 [cilium assembly]
Show all
153 aa
16.9 kDa
No 0
B9D1-203
ENSP00000378978
ENST00000395616
A8MYG7
[Direct mapping] B9 domain-containing protein 1
Show all
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
187 aa
21 kDa
No 0
B9D1-204
ENSP00000410835
ENST00000440841
H7C3B7
[Direct mapping] B9 domain-containing protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
133 aa
14.9 kDa
No 0
B9D1-205
ENSP00000433359
ENST00000461069
A0A0B4J223
[Direct mapping] B9 domain-containing protein 1
Show all
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
186 aa
20.7 kDa
No 0
B9D1-208
ENSP00000460939
ENST00000477478
I3L435
[Direct mapping] B9 domain-containing protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
63 aa
7 kDa
No 0
B9D1-209
ENSP00000494660
ENST00000477683
A0A2R8Y5M4
[Direct mapping] B9 domain-containing protein 1
Show all
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
135 aa
15.1 kDa
No 0
B9D1-211
ENSP00000462565
ENST00000574508
J3KSN2
[Direct mapping] B9 domain-containing protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
11 aa
1.3 kDa
No 0
B9D1-212
ENSP00000458525
ENST00000575478
I3L126
[Direct mapping] B9 domain-containing protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
58 aa
6.6 kDa
No 0
B9D1-214
ENSP00000463165
ENST00000582857
J3QKN6
[Direct mapping] B9 domain-containing protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
46 aa
5.4 kDa
No 0
B9D1-215
ENSP00000496409
ENST00000642870
A0A2R8Y822
[Direct mapping] B9 domain-containing protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
84 aa
9.4 kDa
No 0
B9D1-217
ENSP00000493599
ENST00000646248
A0A2R8YD57
[Direct mapping] B9 domain-containing protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
92 aa
10.3 kDa
No 0
B9D1-219
ENSP00000495045
ENST00000647252
A0A2R8Y646
[Direct mapping] B9 domain-containing protein 1
Show all
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
183 aa
20.3 kDa
No 0
B9D1-220
ENSP00000499469
ENST00000663089
A0A590UJK9
[Direct mapping] B9 domain-containing protein 1
Show all
   SCAMPI predicted membrane proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
204 aa
22.2 kDa
No 0
B9D1-221
ENSP00000499690
ENST00000671102
A0A590UK40
[Direct mapping] B9 domain-containing protein 1
Show all
   SCAMPI predicted membrane proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
187 aa
20.6 kDa
No 0
B9D1-222
ENSP00000501877
ENST00000674596
A0A6Q8PFN7
[Direct mapping] B9 domain-containing protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
121 aa
12.8 kDa
No 0
B9D1-223
ENSP00000501817
ENST00000675510
A0A6Q8PFJ7
[Direct mapping] B9 domain-containing protein 1
Show all
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of the urinary system
Show all
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0030030 [cell projection organization]
Show all
155 aa
17.2 kDa
No 0

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