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KIAA1217 KIAA1217 [ Homo sapiens (human) ]

Gene ID: 56243, updated on 13-Mar-2020

Summary

Official Symbol
KIAA1217provided by HGNC
Official Full Name
KIAA1217provided by HGNC
Primary source
HGNC:HGNC:25428
See related
Ensembl:ENSG00000120549 MIM:617367
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
Expression
Ubiquitous expression in fat (RPKM 10.6), thyroid (RPKM 9.4) and 24 other tissues See more
Orthologs

Genomic context

See KIAA1217 in Genome Data Viewer
Location:
10p12.2-p12.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (23694727..24547848)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (23983675..24836772)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376454 Neighboring gene OTU deubiquitinase 1 Neighboring gene nucleoporin 35 pseudogene 1 Neighboring gene microRNA 603 Neighboring gene uncharacterized LOC105376455 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

NHGRI GWAS Catalog

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

Homology

Clone Names

  • KIAA1217, MGC31990, DKFZp761L0424

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
embryonic skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
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)

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/Swiss-Prot
    Q5T5P2
    Related
    ENSP00000365645.1, ENST00000376462.5
    Conserved Domains (1) summary
    pfam03915
    Location:108240
    AIP3; Actin interacting protein 3
  2. NM_001282767.1NP_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/Swiss-Prot
    Q5T5P2
    Related
    ENSP00000365635.3, ENST00000376452.7
    Conserved Domains (1) summary
    pfam03915
    Location:188320
    AIP3; Actin interacting protein 3
  3. NM_001282768.1NP_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/Swiss-Prot
    Q5T5P2
    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
    Q5T5P2
    Related
    ENSP00000365637.3, ENST00000376454.8
    Conserved Domains (1) summary
    pfam03915
    Location:188320
    AIP3; Actin interacting protein 3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    23694727..24547848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448086.1XP_024303854.1  sickle tail protein homolog isoform X22

  2. XM_024448083.1XP_024303851.1  sickle tail protein homolog isoform X8

  3. XM_017016429.1XP_016871918.1  sickle tail protein homolog isoform X22

    UniProtKB/Swiss-Prot
    Q5T5P2
    Conserved Domains (1) summary
    pfam03915
    Location:108240
    AIP3; Actin interacting protein 3
  4. XM_024448085.1XP_024303853.1  sickle tail protein homolog isoform X21

    Conserved Domains (1) summary
    cl27222
    Location:108240
    AIP3; Actin interacting protein 3
  5. XM_017016426.2XP_016871915.1  sickle tail protein homolog isoform X16

  6. XM_017016425.2XP_016871914.1  sickle tail protein homolog isoform X15

  7. XM_011519558.2XP_011517860.2  sickle tail protein homolog isoform X3

  8. XM_011519552.3XP_011517854.2  sickle tail protein homolog isoform X1

  9. XM_011519562.2XP_011517864.2  sickle tail protein homolog isoform X14

  10. XM_011519555.3XP_011517857.2  sickle tail protein homolog isoform X2

  11. XM_011519566.2XP_011517868.2  sickle tail protein homolog isoform X20

  12. XM_017016427.2XP_016871916.1  sickle tail protein homolog isoform X17

  13. XM_011519565.3XP_011517867.2  sickle tail protein homolog isoform X19

  14. XM_011519559.2XP_011517861.2  sickle tail protein homolog isoform X5

  15. XM_011519564.2XP_011517866.1  sickle tail protein homolog isoform X18

    Conserved Domains (1) summary
    pfam03915
    Location:108240
    AIP3; Actin interacting protein 3
  16. XM_024448082.1XP_024303850.1  sickle tail protein homolog isoform X8

  17. XM_024448084.1XP_024303852.1  sickle tail protein homolog isoform X8

  18. XM_017016416.1XP_016871905.1  sickle tail protein homolog isoform X4

  19. XM_017016417.1XP_016871906.1  sickle tail protein homolog isoform X6

  20. XM_017016421.1XP_016871910.1  sickle tail protein homolog isoform X10

  21. XM_017016420.1XP_016871909.1  sickle tail protein homolog isoform X10

  22. XM_017016422.1XP_016871911.1  sickle tail protein homolog isoform X11

  23. XM_017016418.2XP_016871907.1  sickle tail protein homolog isoform X7

  24. XM_017016419.2XP_016871908.1  sickle tail protein homolog isoform X9

  25. XM_017016424.1XP_016871913.1  sickle tail protein homolog isoform X12

  26. XM_017016423.1XP_016871912.1  sickle tail protein homolog isoform X12

  27. XM_005252516.4XP_005252573.1  sickle tail protein homolog isoform X13

    UniProtKB/Swiss-Prot
    Q5T5P2
    Related
    ENSP00000365634.2, ENST00000376451.4

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.
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