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    BBS9 Bardet-Biedl syndrome 9 [ Homo sapiens (human) ]

    Gene ID: 27241, updated on 3-Apr-2024

    Summary

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    Official Symbol
    BBS9provided by HGNC
    Official Full Name
    Bardet-Biedl syndrome 9provided by HGNC
    Primary source
    HGNC:HGNC:30000
    See related
    Ensembl:ENSG00000122507 MIM:607968; AllianceGenome:HGNC:30000
    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
    B1; D1; C18; PTHB1
    Summary
    This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]
    Expression
    Broad expression in testis (RPKM 3.4), thyroid (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BBS9 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (33129285..33635767)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (33268844..33775698)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (33168897..33675379)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25833 Neighboring gene uncharacterized LOC124901610 Neighboring gene 5'-nucleotidase, cytosolic IIIA Neighboring gene RNA, 7SL, cytoplasmic 505, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25835 Neighboring gene RP9 pre-mRNA splicing factor Neighboring gene RNA, 5S ribosomal pseudogene 229 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:33327115-33328314 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:33391027-33391528 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:33391529-33392028 Neighboring gene RAB3A interacting protein like 1 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:33569166-33569387 Neighboring gene uncharacterized LOC124901611 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:33744844-33745712 Neighboring gene uncharacterized FLJ20712

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome. Zhang Y, et al. Biomed Res Int, 2021. PMID 34692830, Free PMC Article
    2. Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene. Muzammal M, et al. Mol Genet Genomic Med, 2019 Aug. PMID 31294530, Free PMC Article
    3. BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche. Barba M, et al. Bone, 2018 Jul. PMID 29674126, Free PMC Article
    4. Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. Khan MA, et al. BMC Med Genet, 2016 Feb 4. PMID 26846096, Free PMC Article
    5. Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9). Knockenhauer KE, et al. J Biol Chem, 2015 Aug 7. PMID 26085087, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.
      Title: A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.
    2. Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.
      Title: Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.
    3. Authors found that within this structure, BBS2 and BBS7 form a tight dimer through a coiled-coil interaction and that BBS9 associates with the dimer via an interaction with the alpha-helical domain of BBS2. Interestingly, a BBS-associated mutation of BBS2 is located in its alpha-helical domain at the interface between BBS2 and BBS9, and binding experiments indicated that this mutation disrupts the BBS2-BBS9 interaction.
      Title: Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.
    4. Study of two apparently unrelated consanguineous Bardet-Biedle syndrome families from Dera Ismail Khan (D.I.Khan) district, Pakistan identified a recently reported single base deletion NM_001033604.1:c.299delC in the fourth exon of BBS9 in both families and speculate the evolutionary significance of this mutation and assume its strong founder effect in the Khaisoori tribe of D.I.Khan.
      Title: Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
    5. BBS9 functional knockdown affected the expression of primary cilia on patient suture cells and their osteogenic potential.
      Title: BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche.
    6. Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women
      Title: Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat.
    7. BBS9/PTHB1 gene mutations have been shown to be associated with Bardet Biedl syndrome and to the best of our knowledge this study reports the first Pakistani family linked to the BBS9 gene.
      Title: Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
    8. BBS9 has four folded domains, based on structure prediction; the N-terminal domain is a beta-propeller.
      Title: Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).
    9. we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports.
      Title: Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
    10. The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration.
      Title: The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    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
    Bardet-Biedl syndrome 9
    MedGen: C1859567 OMIM: 615986 GeneReviews: Bardet-Biedl Syndrome Overview
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
    EBI GWAS Catalog
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC118917

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BBSome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of BBSome IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in pericentriolar material IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein PTHB1
    Names
    PTH-responsive osteosarcoma B1 protein
    bardet-Biedl syndrome 9 protein
    parathyroid hormone-responsive B1 gene protein

    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

    1. NG_009306.2 RefSeqGene

      Range
      5321..481826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033604.2 → NP_001028776.1  protein PTHB1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC078833, AL704922, BC103831, U85994, U85995
      Consensus CDS
      CCDS47572.1
      UniProtKB/TrEMBL
      A0A5F9ZGX9
      Related
      ENSP00000379433.2, ENST00000396127.6
      Conserved Domains (2) summary
      pfam14727
      Location:2 → 418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444 → 784
      PHTB1_C; PTHB1 C-terminus

    2. NM_001033605.2 → NP_001028777.1  protein PTHB1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC078833, AL704922, BC103831, BI254810, U85994
      Consensus CDS
      CCDS34618.1
      UniProtKB/TrEMBL
      A0A5F9ZGX9
      Related
      ENSP00000347182.2, ENST00000355070.6
      Conserved Domains (2) summary
      pfam14727
      Location:2 → 418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444 → 814
      PHTB1_C; PTHB1 C-terminus

    3. NM_001348036.1 → NP_001334965.1  protein PTHB1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Consensus CDS
      CCDS43566.1
      UniProtKB/Swiss-Prot
      E9PDC9, P78514, Q3SYG4, Q7KYS6, Q7KYS7, Q8N570, Q99844, Q99854, Q9Y699, Q9Y6A0
      UniProtKB/TrEMBL
      A0A090N8P4, A0A5F9ZGX9
      Related
      ENST00000673230.1
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:441 → 814
      PHTB1_C; PTHB1 C-terminus

    4. NM_001348037.3 → NP_001334966.1  protein PTHB1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      UniProtKB/TrEMBL
      A0A5F9ZHP5
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 296
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:322 → 636
      PHTB1_C; PTHB1 C-terminus

    5. NM_001348038.3 → NP_001334967.1  protein PTHB1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      UniProtKB/TrEMBL
      A0A5F9ZHP5
      Conserved Domains (2) summary
      pfam14727
      Location:2 → 327
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:353 → 728
      PHTB1_C; PTHB1 C-terminus

    6. NM_001348039.3 → NP_001334968.1  protein PTHB1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      UniProtKB/TrEMBL
      A0A5F9ZHP5
      Conserved Domains (2) summary
      pfam14727
      Location:2 → 327
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:353 → 693
      PHTB1_C; PTHB1 C-terminus

    7. NM_001348040.3 → NP_001334969.1  protein PTHB1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      UniProtKB/TrEMBL
      A0A5F9ZGX9
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444 → 779
      PHTB1_C; PTHB1 C-terminus

    8. NM_001348041.4 → NP_001334970.1  protein PTHB1 isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) represents the allele encoded by the GRCh38 reference genome and encodes isoform (9).
      Source sequence(s)
      AC006195, AC007312, AC018664, AC074338, AC078833, AC087070, AW119001
      Consensus CDS
      CCDS94079.1
      UniProtKB/TrEMBL
      A0A5F9ZGX9, A0A5F9ZH14
      Related
      ENSP00000499989.1, ENST00000673056.1
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444 → 819
      PHTB1_C; PTHB1 C-terminus

    9. NM_001348042.3 → NP_001334971.1  protein PTHB1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Consensus CDS
      CCDS94081.1
      UniProtKB/TrEMBL
      A0A5F9ZH74, A0A5F9ZHP5
      Related
      ENSP00000500146.1, ENST00000671890.1
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 373
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:399 → 774
      PHTB1_C; PTHB1 C-terminus

    10. NM_001348043.3 → NP_001334972.1  protein PTHB1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      UniProtKB/TrEMBL
      A0A5F9ZGX9
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444 → 819
      PHTB1_C; PTHB1 C-terminus

    11. NM_001348044.3 → NP_001334973.1  protein PTHB1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      UniProtKB/TrEMBL
      A0A5F9ZHP5
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 296
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:322 → 662
      PHTB1_C; PTHB1 C-terminus

    12. NM_001348045.3 → NP_001334974.1  protein PTHB1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Consensus CDS
      CCDS94082.1
      UniProtKB/TrEMBL
      A0A5F9ZGY2, A0A5F9ZHP5
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 296
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:322 → 697
      PHTB1_C; PTHB1 C-terminus

    13. NM_001348046.3 → NP_001334975.1  protein PTHB1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Consensus CDS
      CCDS94082.1
      UniProtKB/TrEMBL
      A0A5F9ZGY2, A0A5F9ZHP5
      Related
      ENSP00000499904.1, ENST00000671963.1
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 296
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:322 → 697
      PHTB1_C; PTHB1 C-terminus

    14. NM_001362679.1 → NP_001349608.1  protein PTHB1 isoform 14

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19) represents the allele encoded by the GRCh38 reference genome and encodes isoform (14).
      Source sequence(s)
      AC018664, AL704922, AW119001, BC103831, CD105376
      Consensus CDS
      CCDS94080.1
      UniProtKB/TrEMBL
      A0A5F9ZH37, A0A5F9ZHE7
      Related
      ENSP00000500239.1, ENST00000671952.1
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444 → 819
      PHTB1_C; PTHB1 C-terminus

    15. NM_001412127.2 → NP_001399056.1  protein PTHB1 isoform 15

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20) uses the same exon combination as variant 10 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (15) has a frameshifted C-terminus compared to isoform 9.
      Source sequence(s)
      CP068271

    16. NM_001412128.2 → NP_001399057.1  protein PTHB1 isoform 16

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21) uses the same exon combination as variant 19 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (16) has a frameshifted C-terminus compared to isoform 14.
      Source sequence(s)
      CP068271

    17. NM_014451.4 → NP_055266.2  protein PTHB1 isoform 1

      See identical proteins and their annotated locations for NP_055266.2

      Status: REVIEWED

      Source sequence(s)
      AC078833, AF095771, AL704922, BC103831, U85994
      Consensus CDS
      CCDS5441.1
      UniProtKB/TrEMBL
      A0A090N7W2, A0A5F9ZGX9
      Related
      ENSP00000313122.6, ENST00000350941.7
      Conserved Domains (2) summary
      pfam14727
      Location:2 → 418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444 → 779
      PHTB1_C; PTHB1 C-terminus

    18. NM_198428.3 → NP_940820.1  protein PTHB1 isoform 2

      See identical proteins and their annotated locations for NP_940820.1

      Status: REVIEWED

      Source sequence(s)
      AC078833, AL704922, BC103831, U85994
      Consensus CDS
      CCDS43566.1
      UniProtKB/Swiss-Prot
      E9PDC9, P78514, Q3SYG4, Q7KYS6, Q7KYS7, Q8N570, Q99844, Q99854, Q9Y699, Q9Y6A0
      UniProtKB/TrEMBL
      A0A090N8P4, A0A5F9ZGX9
      Related
      ENSP00000242067.6, ENST00000242067.11
      Conserved Domains (2) summary
      pfam14727
      Location:1 → 418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:441 → 814
      PHTB1_C; PTHB1 C-terminus

    RNA

    1. NR_145411.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070

    2. NR_145412.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Related
      ENST00000673462.1

    3. NR_145413.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Related
      ENST00000433714.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      33129285..33635767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      33268844..33775698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3SYG4.1 GenPept UniProtKB/Swiss-Prot:Q3SYG4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Miscellaneous