Q9UPM9 (B9D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
B9 domain-containing protein 1

Gene names

Name:

B9D1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	204 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Part of the tectonic complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition By similarity.
Subunit structure	Part of the tectonic complex composed at least of MKS1, TMEM216, TMEM67, CEP290, B9D1, TCTN1, TCTN2, TCTN3 and CC2D2A By similarity.
Subcellular location	Cytoplasm › cytoskeleton › cilium basal body By similarity. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme By similarity.
Sequence similarities	Belongs to the B9D family. Contains 1 B9 domain.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation
Cellular component	Cell projection Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cilium assembly Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	centrosome Inferred from direct assay. Source: UniProtKB microtubule basal body Inferred from direct assay. Source: UniProtKB
Molecular function	hedgehog receptor activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
EXOSC10	Q01780	1	EBI-372535,EBI-358236

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UPM9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9UPM9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     136-204: WFMGRRPEYT...GPSPPQSFPQ → LCLVASSDLQAAPPTEDK

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 204	204	B9 domain-containing protein 1		PRO_0000307667
Regions
	Domain	9 – 127	119	B9
Natural variations
	Alternative sequence	136 – 204	69	WFMGR…QSFPQ → LCLVASSDLQAAPPTEDK in isoform 2.		VSP_028770

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 6F09A3152F48CE42	FASTA	204	22,775
	10 20 30 40 50 60 MATASPSVFL LMVNGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI SQITSKSQDV 70 80 90 100 110 120 RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV RGYGAVHVPF SPGRHKRTIP 130 140 150 160 170 180 MFVPESTSKL QKFTSWFMGR RPEYTDPKVV AQGEGREVTR VRSQGFVTLL FNVVTKDMRK 190 200 LGYDTGPSDT QGVLGPSPPQ SFPQ
	Isoform 2 [UniParc]. Checksum: 261E68117FADB3DB	FASTA	153	16,919
	10 20 30 40 50 60 MATASPSVFL LMVNGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI SQITSKSQDV 70 80 90 100 110 120 RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV RGYGAVHVPF SPGRHKRTIP 130 140 150 MFVPESTSKL QKFTSLCLVA SSDLQAAPPT EDK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human homologue for B9." Miyashita H., Sato Y. Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Skin.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB030506 mRNA. Translation: BAA82655.1. BC002944 mRNA. Translation: AAH02944.1.
IPI	IPI00024153. IPI00024528.
RefSeq	NP_056496.1. NM_015681.3.
UniGene	Hs.462445.
3D structure databases
ProteinModelPortal	Q9UPM9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UPM9. 1 interaction.
STRING	Q9UPM9.
Polymorphism databases
DMDM	74725691.
Proteomic databases
PRIDE	Q9UPM9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000261499; ENSP00000261499; ENSG00000108641.
GeneID	27077.
KEGG	hsa:27077.
UCSC	uc002gvk.2. human. uc010cqn.1. human.
Organism-specific databases
CTD	27077.
GeneCards	GC17M019244.
HGNC	HGNC:24123. B9D1.
HPA	HPA022957.
MIM	614144. gene.
neXtProt	NX_Q9UPM9.
Orphanet	564. Meckel syndrome.
PharmGKB	PA162377328.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16126.
GeneTree	ENSGT00550000076391.
HOVERGEN	HBG104431.
InParanoid	Q9UPM9.
OMA	LGRRPEY.
OrthoDB	EOG4001KC.
PhylomeDB	Q9UPM9.
Gene expression databases
ArrayExpress	Q9UPM9.
Bgee	Q9UPM9.
CleanEx	HS_B9D1.
Genevestigator	Q9UPM9.
Family and domain databases
InterPro	IPR010796. B9. [Graphical view]
Pfam	PF07162. B9. 1 hit. [Graphical view]
PROSITE	PS51381. B9. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	49681.
SOURCE	Search...

Entry information

Entry name

B9D1_HUMAN

Accession

Primary (citable) accession number: Q9UPM9
Secondary accession number(s): Q9BU22

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	May 1, 2000
Last modified:	January 25, 2012
This is version 53 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.