B9D1

GENE INFORMATION

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Gene name

B9D1 (HGNC Symbol)

Synonyms

B9, EPPB9, MKS9

Description

B9 protein domain 1 (HGNC Symbol)

Entrez gene summary

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. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011]

Chromosome

17

Cytoband

p11.2

Chromosome location (bp)

19337554 - 19378182

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000108641 (version 78.38)

Entrez gene

27077

UniProt

Q9UPM9 (UniProt - Evidence at transcript level)

neXtProt

NX_Q9UPM9

Antibodypedia

B9D1 antibodies
 

PROTEIN VIEW

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 « 
 
B9D1-001
 
B9D1-002
 
B9D1-003
 
B9D1-004
 
B9D1-005
 
B9D1-006
 
B9D1-008
 
B9D1-010
 
B9D1-012
 
B9D1-013
 
B9D1-014
 
 » 
 
 
 
 

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)

B9D1-001 ENSP00000261499
ENST00000261499
Q9UPM9
Show all »
Show » Show » 204 22.8 Yes 0
B9D1-002 ENSP00000460939
ENST00000477478
I3L435
Show all »
Show » 213 23.1 No 0
B9D1-003 ENSP00000268841
ENST00000268841
Q9UPM9
Show all »
Show » Show » 153 16.9 Yes 0
B9D1-004 ENSP00000410835
ENST00000440841
H7C3B7
Show all »
Show » 133 14.9 No 0
B9D1-005 ENSP00000378978
ENST00000395616
A8MYG7
Show all »
Show » 187 21 Yes 0
B9D1-006 ENSP00000378977
ENST00000395615
A8MTX4
Show all »
Show » 161 18 Yes 0
B9D1-008 ENSP00000433359
ENST00000461069
Show » 186 20.7 Yes 0
B9D1-010 ENSP00000463255
ENST00000487415
Show » 19 1.9 No 0
B9D1-012 ENSP00000462565
ENST00000574508
J3KSN2
Show all »
Show » 106 11.4 No 0
B9D1-013 ENSP00000458525
ENST00000575478
I3L126
Show all »
Show » 140 15.1 No 0
B9D1-014 ENSP00000459857
ENST00000575403
I3L2R1
Show all »
Show » 147 15.7 No 0