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    STARD9 StAR related lipid transfer domain containing 9 [ Homo sapiens (human) ]

    Gene ID: 57519, updated on 28-Oct-2024

    Summary

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    Official Symbol
    STARD9provided by HGNC
    Official Full Name
    StAR related lipid transfer domain containing 9provided by HGNC
    Primary source
    HGNC:HGNC:19162
    See related
    Ensembl:ENSG00000159433 MIM:614642; AllianceGenome:HGNC:19162
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIF16A
    Summary
    Enables microtubule binding activity and microtubule motor activity. Involved in spindle assembly. Located in centriole; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 7.1), ovary (RPKM 3.6) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STARD9 in Genome Data Viewer
    Location:
    15q15.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (42575606..42720998)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (40382607..40528130)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (42867804..43013196)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9305 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9306 Neighboring gene HAUS augmin like complex subunit 2 Neighboring gene eukaryotic translation initiation factor 4E binding protein 2 pseudogene 2 Neighboring gene MYL12B pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:42892996-42893612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9307 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:42911331-42912096 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:42912097-42912861 Neighboring gene NANOG hESC enhancer GRCh37_chr15:42957961-42958533 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43022854-43023381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6378 Neighboring gene TTBK2 antisense RNA 1 Neighboring gene codanin 1 Neighboring gene tau tubulin kinase 2

    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 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. Identification and characterization of the human StARD9 gene in the LGMD2A-region on chromosome 15q15 by in silico methods. Halama N, et al. Int J Mol Med, 2006 Oct. PMID 16964419
    2. Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment. Chen XS, et al. Sci Rep, 2017 Apr 25. PMID 28440294, Free PMC Article
    3. A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology. Okamoto N, et al. Am J Med Genet A, 2017 Oct. PMID 28777490
    4. A centrosomal protein STARD9 promotes microtubule stability and regulates spindle microtubule dynamics. Srivastava S, et al. Cell Cycle, 2018. PMID 30160609, Free PMC Article
    5. StARD9 is a novel lysosomal kinesin required for membrane tubulation, cholesterol transport and Purkinje cell survival. Sterling FR, et al. J Cell Sci, 2023 Mar 1. PMID 36861884, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. STARD9 regulates the assembly and stability of both interphase and spindle microtubules.
      Title: A centrosomal protein STARD9 promotes microtubule stability and regulates spindle microtubule dynamics.
    2. STARD9 frame shift mutation is associated with abnormal spindle morphology in Intellectual disability.
      Title: A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.
    3. STARD9 could be regulated by Plk1 and SCFbeta-TrCP to promote proper mitotic spindle assembly.
      Title: A unique insertion in STARD9's motor domain regulates its stability.
    4. Analysis of 592 mitotic microtubule copurifying proteins by functional RNAi screens for mitotic arrest, checkpoint bypass, and induction of apoptosis resulted in identification of a kinesin, STARD9, with a critical role in cancer cell division.
      Title: The STARD9/Kif16a kinesin associates with mitotic microtubules and regulates spindle pole assembly.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    Not yet evaluated (Last evaluated 2023-10-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2023-10-10)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16106, FLJ21936, KIAA1300, DKFZp686O248, DKFZp781J069, DKFZp686P19131

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule motor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in microtubule-based movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    stAR-related lipid transfer protein 9
    Names
    START domain-containing protein 9
    StAR-related lipid transfer (START) domain containing 9

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_020759.3 → NP_065810.2  stAR-related lipid transfer protein 9

      See identical proteins and their annotated locations for NP_065810.2

      Status: VALIDATED

      Source sequence(s)
      AC018362, AC090510
      Consensus CDS
      CCDS53935.1
      UniProtKB/Swiss-Prot
      Q68DG2, Q6AI01, Q6ZWK0, Q9P2P6, Q9UF70
      Related
      ENSP00000290607.7, ENST00000290607.12
      Conserved Domains (5) summary
      cd08874
      Location:4496 → 4700
      START_STARD9-like; C-terminal START domain of mammalian STARD9, and related domains; lipid binding
      smart00129
      Location:3 → 391
      KISc; Kinesin motor, catalytic domain. ATPase
      cd00060
      Location:478 → 578
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd01365
      Location:2 → 391
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
      pfam16183
      Location:390 → 501
      Kinesin_assoc; Kinesin-associated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      42575606..42720998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521831.4 → XP_011520133.1  stAR-related lipid transfer protein 9 isoform X1

      Conserved Domains (4) summary
      TIGR01843
      Location:581 → 776
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family
      cd08874
      Location:4496 → 4705
      START_STARD9-like; C-terminal START domain of mammalian STARD9, and related domains; lipid binding
      cd00060
      Location:478 → 578
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd01365
      Location:2 → 391
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

    2. XM_011521834.4 → XP_011520136.1  stAR-related lipid transfer protein 9 isoform X4

      Conserved Domains (5) summary
      cd08874
      Location:4475 → 4684
      START_STARD9-like; C-terminal START domain of mammalian STARD9, and related domains; lipid binding
      smart00129
      Location:3 → 391
      KISc; Kinesin motor, catalytic domain. ATPase
      cd00060
      Location:457 → 557
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd01365
      Location:2 → 391
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
      pfam16183
      Location:390 → 471
      Kinesin_assoc; Kinesin-associated

    3. XM_017022439.3 → XP_016877928.1  stAR-related lipid transfer protein 9 isoform X5

    4. XM_011521835.4 → XP_011520137.1  stAR-related lipid transfer protein 9 isoform X7

      Conserved Domains (4) summary
      cd08874
      Location:4449 → 4658
      START_STARD9-like; C-terminal START domain of mammalian STARD9, and related domains; lipid binding
      smart00129
      Location:3 → 391
      KISc; Kinesin motor, catalytic domain. ATPase
      cd00060
      Location:431 → 531
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd01365
      Location:2 → 391
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

    5. XM_011521833.3 → XP_011520135.1  stAR-related lipid transfer protein 9 isoform X3

      Conserved Domains (5) summary
      cd08874
      Location:4485 → 4694
      START_STARD9-like; C-terminal START domain of mammalian STARD9, and related domains; lipid binding
      smart00129
      Location:3 → 380
      KISc; Kinesin motor, catalytic domain. ATPase
      cd00060
      Location:467 → 567
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl22853
      Location:2 → 380
      Motor_domain; Myosin and Kinesin motor domain
      pfam16183
      Location:379 → 490
      Kinesin_assoc; Kinesin-associated

    6. XM_047432901.1 → XP_047288857.1  stAR-related lipid transfer protein 9 isoform X6

    7. XM_047432902.1 → XP_047288858.1  stAR-related lipid transfer protein 9 isoform X9

    8. XM_011521832.3 → XP_011520134.1  stAR-related lipid transfer protein 9 isoform X2

      Conserved Domains (5) summary
      cd08874
      Location:4495 → 4704
      START_STARD9-like; C-terminal START domain of mammalian STARD9, and related domains; lipid binding
      smart00129
      Location:3 → 390
      KISc; Kinesin motor, catalytic domain. ATPase
      cd00060
      Location:477 → 577
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd01365
      Location:2 → 390
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
      pfam16183
      Location:389 → 500
      Kinesin_assoc; Kinesin-associated

    9. XM_017022440.2 → XP_016877929.1  stAR-related lipid transfer protein 9 isoform X8

      Conserved Domains (5) summary
      cd08874
      Location:4442 → 4651
      START_STARD9-like; C-terminal START domain of mammalian STARD9, and related domains; lipid binding
      smart00129
      Location:3 → 337
      KISc; Kinesin motor, catalytic domain. ATPase
      cd00060
      Location:424 → 524
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl22853
      Location:1 → 337
      Motor_domain; Myosin and Kinesin motor domain
      pfam16183
      Location:336 → 447
      Kinesin_assoc; Kinesin-associated

    10. XM_011521837.4 → XP_011520139.1  stAR-related lipid transfer protein 9 isoform X11

      Conserved Domains (5) summary
      cd08874
      Location:4412 → 4621
      START_STARD9-like; C-terminal START domain of mammalian STARD9, and related domains; lipid binding
      smart00129
      Location:2 → 307
      KISc; Kinesin motor, catalytic domain. ATPase
      cd00060
      Location:394 → 494
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl22853
      Location:2 → 307
      Motor_domain; Myosin and Kinesin motor domain
      pfam16183
      Location:306 → 417
      Kinesin_assoc; Kinesin-associated

    11. XM_047432903.1 → XP_047288859.1  stAR-related lipid transfer protein 9 isoform X13

    12. XM_024450002.2 → XP_024305770.1  stAR-related lipid transfer protein 9 isoform X14

      Conserved Domains (4) summary
      cd00060
      Location:478 → 578
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd01365
      Location:2 → 391
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
      pfam16183
      Location:390 → 501
      Kinesin_assoc; Kinesin-associated
      cl25632
      Location:581 → 776
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family

    13. XM_011521836.3 → XP_011520138.1  stAR-related lipid transfer protein 9 isoform X8

      Conserved Domains (5) summary
      cd08874
      Location:4442 → 4651
      START_STARD9-like; C-terminal START domain of mammalian STARD9, and related domains; lipid binding
      smart00129
      Location:3 → 337
      KISc; Kinesin motor, catalytic domain. ATPase
      cd00060
      Location:424 → 524
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl22853
      Location:1 → 337
      Motor_domain; Myosin and Kinesin motor domain
      pfam16183
      Location:336 → 447
      Kinesin_assoc; Kinesin-associated

    14. XM_017022441.3 → XP_016877930.1  stAR-related lipid transfer protein 9 isoform X10

    15. XM_017022442.1 → XP_016877931.1  stAR-related lipid transfer protein 9 isoform X12

      Conserved Domains (4) summary
      cd08874
      Location:4258 → 4467
      START_STARD9-like; C-terminal START domain of mammalian STARD9, and related domains; lipid binding
      cd00060
      Location:240 → 340
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl22853
      Location:19 → 153
      Motor_domain; Myosin and Kinesin motor domain
      pfam16183
      Location:152 → 263
      Kinesin_assoc; Kinesin-associated

    16. XM_017022443.1 → XP_016877932.1  stAR-related lipid transfer protein 9 isoform X12

      Conserved Domains (4) summary
      cd08874
      Location:4258 → 4467
      START_STARD9-like; C-terminal START domain of mammalian STARD9, and related domains; lipid binding
      cd00060
      Location:240 → 340
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cl22853
      Location:19 → 153
      Motor_domain; Myosin and Kinesin motor domain
      pfam16183
      Location:152 → 263
      Kinesin_assoc; Kinesin-associated

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      40382607..40528130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378515.1 → XP_054234490.1  stAR-related lipid transfer protein 9 isoform X1

    2. XM_054378518.1 → XP_054234493.1  stAR-related lipid transfer protein 9 isoform X4

    3. XM_054378519.1 → XP_054234494.1  stAR-related lipid transfer protein 9 isoform X5

    4. XM_054378521.1 → XP_054234496.1  stAR-related lipid transfer protein 9 isoform X7

    5. XM_054378517.1 → XP_054234492.1  stAR-related lipid transfer protein 9 isoform X3

    6. XM_054378520.1 → XP_054234495.1  stAR-related lipid transfer protein 9 isoform X6

    7. XM_054378524.1 → XP_054234499.1  stAR-related lipid transfer protein 9 isoform X9

    8. XM_054378516.1 → XP_054234491.1  stAR-related lipid transfer protein 9 isoform X2

    9. XM_054378523.1 → XP_054234498.1  stAR-related lipid transfer protein 9 isoform X8

    10. XM_054378526.1 → XP_054234501.1  stAR-related lipid transfer protein 9 isoform X11

    11. XM_054378529.1 → XP_054234504.1  stAR-related lipid transfer protein 9 isoform X13

    12. XM_054378530.1 → XP_054234505.1  stAR-related lipid transfer protein 9 isoform X14

    13. XM_054378522.1 → XP_054234497.1  stAR-related lipid transfer protein 9 isoform X8

    14. XM_054378525.1 → XP_054234500.1  stAR-related lipid transfer protein 9 isoform X10

    15. XM_054378527.1 → XP_054234502.1  stAR-related lipid transfer protein 9 isoform X12

    16. XM_054378528.1 → XP_054234503.1  stAR-related lipid transfer protein 9 isoform X12

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032381.1: Suppressed sequence

      Description
      NM_032381.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2P6.3 GenPept UniProtKB/Swiss-Prot:Q9P2P6

    Gene LinkOut

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

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