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KIAA1143 KIAA1143 [ Homo sapiens (human) ]

Gene ID: 57456, updated on 5-Mar-2024

Summary

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Official Symbol
KIAA1143provided by HGNC
Official Full Name
KIAA1143provided by HGNC
Primary source
HGNC:HGNC:29198
See related
Ensembl:ENSG00000163807 AllianceGenome:HGNC:29198
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
Expression
Ubiquitous expression in ovary (RPKM 11.8), thyroid (RPKM 10.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3p21.31
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (44748744..44761619, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (44764418..44777307, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (44790236..44803111, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377056 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:44761628-44762827 Neighboring gene zinc finger protein 502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19770 Neighboring gene zinc finger protein 501 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:44801624-44802266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19771 Neighboring gene kinesin family member 15 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 77 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19772 Neighboring gene microRNA 564 Neighboring gene transmembrane protein 42

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. The Human Tau Interactome: Binding to the Ribonucleoproteome, and Impaired Binding of the Proline-to-Leucine Mutant at Position 301 (P301L) to Chaperones and the Proteasome. Gunawardana CG, et al. Mol Cell Proteomics, 2015 Nov. PMID 26269332, Free PMC Article
  2. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. Hirosawa M, et al. DNA Res, 1999 Oct 29. PMID 10574461
  3. HIV-1 Vpr induces cell cycle arrest and enhances viral gene expression by depleting CCDC137. Zhang F, et al. Elife, 2020 Jun 15. PMID 32538781, Free PMC Article
  4. Proteomic Analysis of the EWS-Fli-1 Interactome Reveals the Role of the Lysosome in EWS-Fli-1 Turnover. Elzi DJ, et al. J Proteome Res, 2014 Aug 1. PMID 24999758, Free PMC Article
  5. Nuclear actin interactome analysis links actin to KAT14 histone acetyl transferase and mRNA splicing. Viita T, et al. J Cell Sci, 2019 Apr 17. PMID 30890647, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
uncharacterized protein KIAA1143

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)

  1. NM_001320334.2 → NP_001307263.1  uncharacterized protein KIAA1143 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC098649, BU741967, CD049061, DB238094
    Conserved Domains (1) summary
    pfam15377
    Location:5 → 84
    DUF4604; Domain of unknown function (DUF4604)

  2. NM_020696.4 → NP_065747.1  uncharacterized protein KIAA1143 isoform 1

    See identical proteins and their annotated locations for NP_065747.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC098649, BC008468, BU741967, DA192476
    Consensus CDS
    CCDS2721.1
    UniProtKB/Swiss-Prot
    A8K0I4, Q96AT1, Q96HJ8, Q9ULS7
    Related
    ENSP00000296121.4, ENST00000296121.6
    Conserved Domains (1) summary
    pfam15377
    Location:5 → 150
    DUF4604; Domain of unknown function (DUF4604)

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    44748744..44761619 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_009646197.1 Reference GRCh38.p14 PATCHES

    Range
    274094..286969 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    44764418..44777307 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96AT1.2 GenPept UniProtKB/Swiss-Prot:Q96AT1

Gene LinkOut

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

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