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    KIAA1217 KIAA1217 [ Homo sapiens (human) ]

    Gene ID: 56243, updated on 27-Nov-2024

    Summary

    Official Symbol
    KIAA1217provided by HGNC
    Official Full Name
    KIAA1217provided by HGNC
    Primary source
    HGNC:HGNC:25428
    See related
    Ensembl:ENSG00000120549 MIM:617367; AllianceGenome:HGNC:25428
    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
    SKT; ETL4
    Summary
    Predicted to be involved in embryonic skeletal system development. Located in centrosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 10.6), thyroid (RPKM 9.4) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KIAA1217 in Genome Data Viewer
    Location:
    10p12.2-p12.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (23694727..24547843)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (23714870..24566404)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (23983656..24836772)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2217 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:23800961-23802160 Neighboring gene uncharacterized LOC105376454 Neighboring gene OTU deubiquitinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2220 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:24113200-24113379 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:24207939-24208832 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:24207043-24207938 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:24385043-24385660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:24491171-24491936 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:24498253-24499452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:24503338-24503926 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:24511600-24512328 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:24526677-24527202 Neighboring gene nucleoporin 35 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:24581301-24582500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3156 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:24669872-24670068 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:24671977-24673176 Neighboring gene microRNA 603 Neighboring gene uncharacterized LOC124902395 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:24721337-24722536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3159 Neighboring gene uncharacterized LOC105376455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:24751397-24751898 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11630 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:24783692-24784472 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:24783037-24783536 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:24782535-24783036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:24790381-24790881 Neighboring gene uncharacterized LOC124902394 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:24821078-24822277 Neighboring gene Sharpr-MPRA regulatory region 10635 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:24847550-24847997 Neighboring gene NANOG hESC enhancer GRCh37_chr10:24868778-24869279 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:24901387-24901576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2222 Neighboring gene Rho GTPase activating protein 21 Neighboring gene RNA, 5S ribosomal pseudogene 305 Neighboring gene coenzyme Q10B pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common genetic variation and performance on standardized cognitive tests.
    EBI GWAS Catalog
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    EBI GWAS Catalog
    Web-based, participant-driven studies yield novel genetic associations for common traits.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV Vif interacts with KIAA1217 PubMed
    vif HIV-1 Vif upregulates the expression of sickle tail protein homolog (SKT, KIAA1217) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    • D10S1749 (e-PCR), detects polymorphism

    Clone Names

    • KIAA1217, MGC31990, DKFZp761L0424

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in embryonic skeletal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    sickle tail protein homolog
    Names
    likely orthologue of Mus musculus enhancer trap locus 4

    NCBI Reference Sequences (RefSeq)

    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_001098500.3NP_001091970.1  sickle tail protein homolog isoform 2

      See identical proteins and their annotated locations for NP_001091970.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It also lacks three in-frame exons at the 3' end of the coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB033043, AB291616, AL353650
      Consensus CDS
      CCDS41496.1
      UniProtKB/TrEMBL
      B7ZM29
      Related
      ENSP00000365645.1, ENST00000376462.5
      Conserved Domains (1) summary
      cl27222
      Location:108240
      AIP3; Actin interacting protein 3
    2. NM_001282767.2NP_001269696.1  sickle tail protein homolog isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AB033043, AB291616, AK091142, AL833280, BC136521
      Consensus CDS
      CCDS60502.1
      UniProtKB/TrEMBL
      B7ZM29
      Related
      ENSP00000365635.3, ENST00000376452.7
      Conserved Domains (1) summary
      pfam03915
      Location:188320
      AIP3; Actin interacting protein 3
    3. NM_001282768.2NP_001269697.1  sickle tail protein homolog isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks three in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 5), compared to isoform 1.
      Source sequence(s)
      AB291616, AK091142, AL833280, BC144227
      Consensus CDS
      CCDS60501.1
      UniProtKB/TrEMBL
      B7ZM29
      Related
      ENSP00000392625.1, ENST00000458595.5
      Conserved Domains (1) summary
      pfam03915
      Location:188320
      AIP3; Actin interacting protein 3
    4. NM_001282769.2NP_001269698.1  sickle tail protein homolog isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs, in addition to translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 6) is shorter and has a disctinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL353583, AL392104, BC018764, BC098577, DA408335
      Consensus CDS
      CCDS60504.1
      UniProtKB/Swiss-Prot
      Q5T5P2
      Related
      ENSP00000302343.6, ENST00000307544.10
    5. NM_001282770.2NP_001269699.1  sickle tail protein homolog isoform 7

      See identical proteins and their annotated locations for NP_001269699.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs, in addition to translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 7) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL392104, AL833280, BC098577, DC387942
      Consensus CDS
      CCDS60505.1
      UniProtKB/Swiss-Prot
      Q5T5P2
      Related
      ENSP00000379723.1, ENST00000396446.5
    6. NM_001321681.2NP_001308610.1  sickle tail protein homolog isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL353583, AL392104
    7. NM_019590.5NP_062536.2  sickle tail protein homolog isoform 1

      See identical proteins and their annotated locations for NP_062536.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB033043, AB291616, AK091142, AL833280, DB164876
      Consensus CDS
      CCDS31165.1
      UniProtKB/Swiss-Prot
      A5LHW9, A6NLF3, A6PVQ5, A6PVQ6, A6PVQ7, B9EGK4, Q4KMG4, Q5T5P2, Q5T5P3, Q5T7H3, Q6MZZ6, Q6ZUI4, Q8WV45, Q9NSR2, Q9ULK3
      UniProtKB/TrEMBL
      A0A8Q3WMI8
      Related
      ENSP00000365637.3, ENST00000376454.8
      Conserved Domains (1) summary
      pfam03915
      Location:188320
      AIP3; Actin interacting protein 3

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      23694727..24547843
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425513.1XP_047281469.1  sickle tail protein homolog isoform X21

    2. XM_047425497.1XP_047281453.1  sickle tail protein homolog isoform X5

    3. XM_047425516.1XP_047281472.1  sickle tail protein homolog isoform X24

    4. XM_047425494.1XP_047281450.1  sickle tail protein homolog isoform X1

    5. XM_047425514.1XP_047281470.1  sickle tail protein homolog isoform X22

    6. XM_047425504.1XP_047281460.1  sickle tail protein homolog isoform X14

    7. XM_047425495.1XP_047281451.1  sickle tail protein homolog isoform X2

    8. XM_017016417.2XP_016871906.1  sickle tail protein homolog isoform X3

      UniProtKB/TrEMBL
      A0A8Q3WMI8
    9. XM_047425499.1XP_047281455.1  sickle tail protein homolog isoform X7

    10. XM_047425524.1XP_047281480.1  sickle tail protein homolog isoform X32

      Related
      ENSP00000365639.4, ENST00000376456.8
    11. XM_047425518.1XP_047281474.1  sickle tail protein homolog isoform X26

    12. XM_047425496.1XP_047281452.1  sickle tail protein homolog isoform X4

    13. XM_047425515.1XP_047281471.1  sickle tail protein homolog isoform X23

    14. XM_047425500.1XP_047281456.1  sickle tail protein homolog isoform X8

    15. XM_047425519.1XP_047281475.1  sickle tail protein homolog isoform X27

    16. XM_047425498.1XP_047281454.1  sickle tail protein homolog isoform X6

    17. XM_047425517.1XP_047281473.1  sickle tail protein homolog isoform X25

    18. XM_017016420.2XP_016871909.1  sickle tail protein homolog isoform X9

      UniProtKB/TrEMBL
      A0A8Q3WMI8
      Related
      ENSP00000512763.1, ENST00000696626.1
    19. XM_047425520.1XP_047281476.1  sickle tail protein homolog isoform X28

    20. XM_047425502.1XP_047281458.1  sickle tail protein homolog isoform X12

    21. XM_017016422.2XP_016871911.1  sickle tail protein homolog isoform X10

      UniProtKB/TrEMBL
      A0A8Q3WMI8
    22. XM_047425521.1XP_047281477.1  sickle tail protein homolog isoform X29

    23. XM_047425522.1XP_047281478.1  sickle tail protein homolog isoform X30

    24. XM_047425501.1XP_047281457.1  sickle tail protein homolog isoform X11

    25. XM_047425523.1XP_047281479.1  sickle tail protein homolog isoform X31

    26. XM_047425503.1XP_047281459.1  sickle tail protein homolog isoform X13

    27. XM_017016424.2XP_016871913.1  sickle tail protein homolog isoform X15

      UniProtKB/TrEMBL
      B4DTY7
    28. XM_047425526.1XP_047281482.1  sickle tail protein homolog isoform X33

    29. XM_047425528.1XP_047281484.1  sickle tail protein homolog isoform X34

    30. XM_047425507.1XP_047281463.1  sickle tail protein homolog isoform X17

    31. XM_047425530.1XP_047281486.1  sickle tail protein homolog isoform X35

    32. XM_047425510.1XP_047281466.1  sickle tail protein homolog isoform X19

    33. XM_047425535.1XP_047281491.1  sickle tail protein homolog isoform X38

    34. XM_047425509.1XP_047281465.1  sickle tail protein homolog isoform X18

    35. XM_047425532.1XP_047281488.1  sickle tail protein homolog isoform X36

    36. XM_017016423.1XP_016871912.1  sickle tail protein homolog isoform X15

      UniProtKB/TrEMBL
      B4DTY7
    37. XM_047425525.1XP_047281481.1  sickle tail protein homolog isoform X33

    38. XM_047425512.1XP_047281468.1  sickle tail protein homolog isoform X20

    39. XM_047425533.1XP_047281489.1  sickle tail protein homolog isoform X37

    40. XM_047425505.1XP_047281461.1  sickle tail protein homolog isoform X16

    41. XM_047425527.1XP_047281483.1  sickle tail protein homolog isoform X34

    42. XM_047425506.1XP_047281462.1  sickle tail protein homolog isoform X17

      Related
      ENSP00000365634.2, ENST00000376451.4
    43. XM_047425529.1XP_047281485.1  sickle tail protein homolog isoform X35

    44. XM_047425511.1XP_047281467.1  sickle tail protein homolog isoform X19

    45. XM_047425534.1XP_047281490.1  sickle tail protein homolog isoform X38

    46. XM_047425508.1XP_047281464.1  sickle tail protein homolog isoform X18

    47. XM_047425531.1XP_047281487.1  sickle tail protein homolog isoform X36

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      23714870..24566404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366342.1XP_054222317.1  sickle tail protein homolog isoform X21

    2. XM_054366322.1XP_054222297.1  sickle tail protein homolog isoform X5

    3. XM_054366345.1XP_054222320.1  sickle tail protein homolog isoform X24

    4. XM_054366318.1XP_054222293.1  sickle tail protein homolog isoform X1

    5. XM_054366343.1XP_054222318.1  sickle tail protein homolog isoform X22

    6. XM_054366331.1XP_054222306.1  sickle tail protein homolog isoform X14

    7. XM_054366319.1XP_054222294.1  sickle tail protein homolog isoform X2

    8. XM_054366320.1XP_054222295.1  sickle tail protein homolog isoform X3

    9. XM_054366324.1XP_054222299.1  sickle tail protein homolog isoform X7

    10. XM_054366353.1XP_054222328.1  sickle tail protein homolog isoform X32

    11. XM_054366347.1XP_054222322.1  sickle tail protein homolog isoform X26

    12. XM_054366321.1XP_054222296.1  sickle tail protein homolog isoform X4

    13. XM_054366344.1XP_054222319.1  sickle tail protein homolog isoform X23

    14. XM_054366325.1XP_054222300.1  sickle tail protein homolog isoform X8

    15. XM_054366348.1XP_054222323.1  sickle tail protein homolog isoform X27

    16. XM_054366323.1XP_054222298.1  sickle tail protein homolog isoform X6

    17. XM_054366346.1XP_054222321.1  sickle tail protein homolog isoform X25

    18. XM_054366326.1XP_054222301.1  sickle tail protein homolog isoform X9

    19. XM_054366329.1XP_054222304.1  sickle tail protein homolog isoform X12

    20. XM_054366327.1XP_054222302.1  sickle tail protein homolog isoform X10

    21. XM_054366328.1XP_054222303.1  sickle tail protein homolog isoform X11

    22. XM_054366352.1XP_054222327.1  sickle tail protein homolog isoform X31

    23. XM_054366330.1XP_054222305.1  sickle tail protein homolog isoform X13

    24. XM_054366349.1XP_054222324.1  sickle tail protein homolog isoform X28

    25. XM_054366350.1XP_054222325.1  sickle tail protein homolog isoform X29

    26. XM_054366351.1XP_054222326.1  sickle tail protein homolog isoform X30

    27. XM_054366333.1XP_054222308.1  sickle tail protein homolog isoform X15

    28. XM_054366355.1XP_054222330.1  sickle tail protein homolog isoform X33

    29. XM_054366357.1XP_054222332.1  sickle tail protein homolog isoform X34

    30. XM_054366336.1XP_054222311.1  sickle tail protein homolog isoform X17

    31. XM_054366359.1XP_054222334.1  sickle tail protein homolog isoform X35

    32. XM_054366339.1XP_054222314.1  sickle tail protein homolog isoform X19

    33. XM_054366364.1XP_054222339.1  sickle tail protein homolog isoform X38

    34. XM_054366338.1XP_054222313.1  sickle tail protein homolog isoform X18

    35. XM_054366361.1XP_054222336.1  sickle tail protein homolog isoform X36

    36. XM_054366332.1XP_054222307.1  sickle tail protein homolog isoform X15

    37. XM_054366354.1XP_054222329.1  sickle tail protein homolog isoform X33

    38. XM_054366341.1XP_054222316.1  sickle tail protein homolog isoform X20

    39. XM_054366362.1XP_054222337.1  sickle tail protein homolog isoform X37

    40. XM_054366334.1XP_054222309.1  sickle tail protein homolog isoform X16

    41. XM_054366356.1XP_054222331.1  sickle tail protein homolog isoform X34

    42. XM_054366335.1XP_054222310.1  sickle tail protein homolog isoform X17

    43. XM_054366358.1XP_054222333.1  sickle tail protein homolog isoform X35

    44. XM_054366340.1XP_054222315.1  sickle tail protein homolog isoform X19

    45. XM_054366363.1XP_054222338.1  sickle tail protein homolog isoform X38

    46. XM_054366337.1XP_054222312.1  sickle tail protein homolog isoform X18

    47. XM_054366360.1XP_054222335.1  sickle tail protein homolog isoform X36

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001098501.1: Suppressed sequence

      Description
      NM_001098501.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.