KIAA1217 KIAA1217 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic polymorphism of KIAA1217 is functionally associated with lumbar disc herniation in the Chinese population.
Title: Genetic polymorphism of KIAA1217 is functionally associated with lumbar disc herniation in the Chinese population.
KIAA1217 Promotes Epithelial-Mesenchymal Transition and Hepatocellular Carcinoma Metastasis by Interacting with and Activating STAT3.
Title: KIAA1217 Promotes Epithelial-Mesenchymal Transition and Hepatocellular Carcinoma Metastasis by Interacting with and Activating STAT3.
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
Title: KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
Data suggest that the KIAA1217-RET-fusion gene is a promising target for lung cancer treatment.
Title: Identification of a novel partner gene, KIAA1217, fused to RET: Functional characterization and inhibitor sensitivity of two isoforms in lung adenocarcinoma.
SKT is involved in the etiology of intervertebral disc degeneration among young adults.
Title: Genetic susceptibility of intervertebral disc degeneration among young Finnish adults.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Using tag SNPs, we examined the association in two independent Japanese case-control populations and found a significant association of lumbar herniation with SKT rs16924573 in the allele frequency model
Title: Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation.

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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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1139 (e-PCR)
- UniSTS:79106

D10S586 (e-PCR), detects polymorphism
- UniSTS:63493

RH93031 (e-PCR)
- UniSTS:89095

WI-17512 (e-PCR)
- UniSTS:22285

G65614 (e-PCR)
- UniSTS:225550

RH119934 (e-PCR)
- UniSTS:133136

SHGC-145514 (e-PCR)
- UniSTS:174620

SHGC-83428 (e-PCR)
- UniSTS:101926

D10S1749 (e-PCR), detects polymorphism
- UniSTS:44

SHGC-17223 (e-PCR)
- UniSTS:46636

SHGC-5927 (e-PCR)
- UniSTS:53292

RH119164 (e-PCR)
- UniSTS:139055

SGC38272 (e-PCR)
- UniSTS:47922

G10340 (e-PCR)
- UniSTS:8500

RH121712 (e-PCR)
- UniSTS:134454

D10S550 (e-PCR), detects polymorphism
- UniSTS:16699

G17481 (e-PCR)
- UniSTS:47931

D10S1567 (e-PCR)
- UniSTS:81236

D10S582 (e-PCR), detects polymorphism
- UniSTS:79446

RH122190 (e-PCR)
- UniSTS:134750

AFM290XE1 (e-PCR)
- UniSTS:21862

SHGC-106427 (e-PCR)
- UniSTS:169845

WI-11237 (e-PCR)
- UniSTS:3708

D10S1747 (e-PCR), detects polymorphism
- UniSTS:74620

RH121865 (e-PCR)
- UniSTS:134526

D10S1673 (e-PCR), detects polymorphism
- UniSTS:29323

RH121550 (e-PCR)
- UniSTS:134291

RH102588 (e-PCR)
- UniSTS:96922

SHGC-142376 (e-PCR)
- UniSTS:171422

RH91497 (e-PCR)
- UniSTS:89249

SHGC-149944 (e-PCR)
- UniSTS:177321

D10S586 (e-PCR), detects polymorphism
- UniSTS:25771

D10S582 (e-PCR), detects polymorphism
- UniSTS:10168

D10S1592 (e-PCR)
- UniSTS:68303

SHGC-154635 (e-PCR)
- UniSTS:178149

SHGC-146251 (e-PCR)
- UniSTS:175103

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 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

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Preferred Names: sickle tail protein homolog

Names: likely orthologue of Mus musculus enhancer trap locus 4

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.

mRNA and Protein(s)

NM_001098500.3 → NP_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:108 → 240

AIP3; Actin interacting protein 3
NM_001282767.2 → NP_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:188 → 320

AIP3; Actin interacting protein 3
NM_001282768.2 → NP_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:188 → 320

AIP3; Actin interacting protein 3
NM_001282769.2 → NP_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
NM_001282770.2 → NP_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
NM_001321681.2 → NP_001308610.1 sickle tail protein homolog isoform 8

Status: VALIDATED

Source sequence(s)

AL353583, AL392104
NM_019590.5 → NP_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:188 → 320

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

23694727..24547843

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425513.1 → XP_047281469.1 sickle tail protein homolog isoform X21
XM_047425497.1 → XP_047281453.1 sickle tail protein homolog isoform X5
XM_047425516.1 → XP_047281472.1 sickle tail protein homolog isoform X24
XM_047425494.1 → XP_047281450.1 sickle tail protein homolog isoform X1
XM_047425514.1 → XP_047281470.1 sickle tail protein homolog isoform X22
XM_047425504.1 → XP_047281460.1 sickle tail protein homolog isoform X14
XM_047425495.1 → XP_047281451.1 sickle tail protein homolog isoform X2
XM_017016417.2 → XP_016871906.1 sickle tail protein homolog isoform X3

UniProtKB/TrEMBL

A0A8Q3WMI8
XM_047425499.1 → XP_047281455.1 sickle tail protein homolog isoform X7
XM_047425524.1 → XP_047281480.1 sickle tail protein homolog isoform X32

Related

ENSP00000365639.4, ENST00000376456.8
XM_047425518.1 → XP_047281474.1 sickle tail protein homolog isoform X26
XM_047425496.1 → XP_047281452.1 sickle tail protein homolog isoform X4
XM_047425515.1 → XP_047281471.1 sickle tail protein homolog isoform X23
XM_047425500.1 → XP_047281456.1 sickle tail protein homolog isoform X8
XM_047425519.1 → XP_047281475.1 sickle tail protein homolog isoform X27
XM_047425498.1 → XP_047281454.1 sickle tail protein homolog isoform X6
XM_047425517.1 → XP_047281473.1 sickle tail protein homolog isoform X25
XM_017016420.2 → XP_016871909.1 sickle tail protein homolog isoform X9

UniProtKB/TrEMBL

A0A8Q3WMI8

Related

ENSP00000512763.1, ENST00000696626.1
XM_047425520.1 → XP_047281476.1 sickle tail protein homolog isoform X28
XM_047425502.1 → XP_047281458.1 sickle tail protein homolog isoform X12
XM_017016422.2 → XP_016871911.1 sickle tail protein homolog isoform X10

UniProtKB/TrEMBL

A0A8Q3WMI8
XM_047425521.1 → XP_047281477.1 sickle tail protein homolog isoform X29
XM_047425522.1 → XP_047281478.1 sickle tail protein homolog isoform X30
XM_047425501.1 → XP_047281457.1 sickle tail protein homolog isoform X11
XM_047425523.1 → XP_047281479.1 sickle tail protein homolog isoform X31
XM_047425503.1 → XP_047281459.1 sickle tail protein homolog isoform X13
XM_017016424.2 → XP_016871913.1 sickle tail protein homolog isoform X15

UniProtKB/TrEMBL

B4DTY7
XM_047425526.1 → XP_047281482.1 sickle tail protein homolog isoform X33
XM_047425528.1 → XP_047281484.1 sickle tail protein homolog isoform X34
XM_047425507.1 → XP_047281463.1 sickle tail protein homolog isoform X17
XM_047425530.1 → XP_047281486.1 sickle tail protein homolog isoform X35
XM_047425510.1 → XP_047281466.1 sickle tail protein homolog isoform X19
XM_047425535.1 → XP_047281491.1 sickle tail protein homolog isoform X38
XM_047425509.1 → XP_047281465.1 sickle tail protein homolog isoform X18
XM_047425532.1 → XP_047281488.1 sickle tail protein homolog isoform X36
XM_017016423.1 → XP_016871912.1 sickle tail protein homolog isoform X15

UniProtKB/TrEMBL

B4DTY7
XM_047425525.1 → XP_047281481.1 sickle tail protein homolog isoform X33
XM_047425512.1 → XP_047281468.1 sickle tail protein homolog isoform X20
XM_047425533.1 → XP_047281489.1 sickle tail protein homolog isoform X37
XM_047425505.1 → XP_047281461.1 sickle tail protein homolog isoform X16
XM_047425527.1 → XP_047281483.1 sickle tail protein homolog isoform X34
XM_047425506.1 → XP_047281462.1 sickle tail protein homolog isoform X17

Related

ENSP00000365634.2, ENST00000376451.4
XM_047425529.1 → XP_047281485.1 sickle tail protein homolog isoform X35
XM_047425511.1 → XP_047281467.1 sickle tail protein homolog isoform X19
XM_047425534.1 → XP_047281490.1 sickle tail protein homolog isoform X38
XM_047425508.1 → XP_047281464.1 sickle tail protein homolog isoform X18
XM_047425531.1 → XP_047281487.1 sickle tail protein homolog isoform X36

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

23714870..24566404

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366342.1 → XP_054222317.1 sickle tail protein homolog isoform X21
XM_054366322.1 → XP_054222297.1 sickle tail protein homolog isoform X5
XM_054366345.1 → XP_054222320.1 sickle tail protein homolog isoform X24
XM_054366318.1 → XP_054222293.1 sickle tail protein homolog isoform X1
XM_054366343.1 → XP_054222318.1 sickle tail protein homolog isoform X22
XM_054366331.1 → XP_054222306.1 sickle tail protein homolog isoform X14
XM_054366319.1 → XP_054222294.1 sickle tail protein homolog isoform X2
XM_054366320.1 → XP_054222295.1 sickle tail protein homolog isoform X3
XM_054366324.1 → XP_054222299.1 sickle tail protein homolog isoform X7
XM_054366353.1 → XP_054222328.1 sickle tail protein homolog isoform X32
XM_054366347.1 → XP_054222322.1 sickle tail protein homolog isoform X26
XM_054366321.1 → XP_054222296.1 sickle tail protein homolog isoform X4
XM_054366344.1 → XP_054222319.1 sickle tail protein homolog isoform X23
XM_054366325.1 → XP_054222300.1 sickle tail protein homolog isoform X8
XM_054366348.1 → XP_054222323.1 sickle tail protein homolog isoform X27
XM_054366323.1 → XP_054222298.1 sickle tail protein homolog isoform X6
XM_054366346.1 → XP_054222321.1 sickle tail protein homolog isoform X25
XM_054366326.1 → XP_054222301.1 sickle tail protein homolog isoform X9
XM_054366329.1 → XP_054222304.1 sickle tail protein homolog isoform X12
XM_054366327.1 → XP_054222302.1 sickle tail protein homolog isoform X10
XM_054366328.1 → XP_054222303.1 sickle tail protein homolog isoform X11
XM_054366352.1 → XP_054222327.1 sickle tail protein homolog isoform X31
XM_054366330.1 → XP_054222305.1 sickle tail protein homolog isoform X13
XM_054366349.1 → XP_054222324.1 sickle tail protein homolog isoform X28
XM_054366350.1 → XP_054222325.1 sickle tail protein homolog isoform X29
XM_054366351.1 → XP_054222326.1 sickle tail protein homolog isoform X30
XM_054366333.1 → XP_054222308.1 sickle tail protein homolog isoform X15
XM_054366355.1 → XP_054222330.1 sickle tail protein homolog isoform X33
XM_054366357.1 → XP_054222332.1 sickle tail protein homolog isoform X34
XM_054366336.1 → XP_054222311.1 sickle tail protein homolog isoform X17
XM_054366359.1 → XP_054222334.1 sickle tail protein homolog isoform X35
XM_054366339.1 → XP_054222314.1 sickle tail protein homolog isoform X19
XM_054366364.1 → XP_054222339.1 sickle tail protein homolog isoform X38
XM_054366338.1 → XP_054222313.1 sickle tail protein homolog isoform X18
XM_054366361.1 → XP_054222336.1 sickle tail protein homolog isoform X36
XM_054366332.1 → XP_054222307.1 sickle tail protein homolog isoform X15
XM_054366354.1 → XP_054222329.1 sickle tail protein homolog isoform X33
XM_054366341.1 → XP_054222316.1 sickle tail protein homolog isoform X20
XM_054366362.1 → XP_054222337.1 sickle tail protein homolog isoform X37
XM_054366334.1 → XP_054222309.1 sickle tail protein homolog isoform X16
XM_054366356.1 → XP_054222331.1 sickle tail protein homolog isoform X34
XM_054366335.1 → XP_054222310.1 sickle tail protein homolog isoform X17
XM_054366358.1 → XP_054222333.1 sickle tail protein homolog isoform X35
XM_054366340.1 → XP_054222315.1 sickle tail protein homolog isoform X19
XM_054366363.1 → XP_054222338.1 sickle tail protein homolog isoform X38
XM_054366337.1 → XP_054222312.1 sickle tail protein homolog isoform X18
XM_054366360.1 → XP_054222335.1 sickle tail protein homolog isoform X36

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.