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    KIAA0040 KIAA0040 [ Homo sapiens (human) ]

    Gene ID: 9674, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KIAA0040provided by HGNC
    Official Full Name
    KIAA0040provided by HGNC
    Primary source
    HGNC:HGNC:28950
    See related
    Ensembl:ENSG00000235750 MIM:616696; AllianceGenome:HGNC:28950
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in placenta (RPKM 38.5), fat (RPKM 22.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIAA0040 in Genome Data Viewer
    Location:
    1q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (175156986..175192987, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (174510730..174546720, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (175126122..175162123, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:175013231-175013766 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:175023596-175024795 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:175036290-175037489 Neighboring gene ENTR1 pseudogene 2 Neighboring gene MPRA-validated peak471 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:175098412-175099320 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:175099321-175100227 Neighboring gene Sharpr-MPRA regulatory region 15603 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:175123083-175123582 Neighboring gene tenascin N Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2132 Neighboring gene Sharpr-MPRA regulatory region 6447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2134 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:175238074-175239273 Neighboring gene uncharacterized LOC105371623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1567 Neighboring gene Sharpr-MPRA regulatory region 1508 Neighboring gene ribosomal protein S29 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2136 Neighboring gene NANOG hESC enhancer GRCh37_chr1:175369460-175369988 Neighboring gene tenascin R Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:175532897-175533398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:175533399-175533898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2138 Neighboring gene MPRA-validated peak472 silencer

    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. Family-based association analysis of alcohol dependence implicates KIAA0040 on Chromosome 1q in multiplex alcohol dependence families. Hill SY, et al. Open J Genet, 2013 Dec. PMID 24829844, Free PMC Article
    2. Tumor-associated galectin-3 modulates the function of tumor-reactive T cells. Peng W, et al. Cancer Res, 2008 Sep 1. PMID 18757439, Free PMC Article
    3. KIAA0040 enhances glioma growth by controlling the JAK2/STAT3 signalling pathway. He J, et al. J Cell Mol Med, 2024 Apr. PMID 38661644, Free PMC Article
    4. A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence. Wang KS, et al. J Psychiatr Res, 2011 Nov. PMID 21703634
    5. Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q. Zuo L, et al. Neuropsychopharmacology, 2012 Jan. PMID 21956439, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KIAA0040 enhances glioma growth by controlling the JAK2/STAT3 signalling pathway.
      Title: KIAA0040 enhances glioma growth by controlling the JAK2/STAT3 signalling pathway.
    2. conclude that KIAA0040 might harbor a causal variant for AD and thus might directly contribute to risk for this disorder.
      Title: Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.
    3. Several flanking SNPs of the top hits in the meta-analysis demonstrated borderline associations with alcohol dependence in the family sample for KIAA0040, NRD1 and THSD7B, respectively.
      Title: A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.
    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

    EBI GWAS Catalog

    Description
    A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ75822, MGC133301

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein KIAA0040

    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_001162893.2 → NP_001156365.1  uncharacterized protein KIAA0040

      See identical proteins and their annotated locations for NP_001156365.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, and 4 all encode the same protein.
      Source sequence(s)
      AL049800, DA185535, DA852435, Z99715
      Consensus CDS
      CCDS86034.1
      UniProtKB/Swiss-Prot
      A8K9H6, J3QR46, Q15053, Q2NKQ0

    2. NM_001162894.2 → NP_001156366.1  uncharacterized protein KIAA0040

      See identical proteins and their annotated locations for NP_001156366.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR, compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AL049800, DA852435, Z99715
      Consensus CDS
      CCDS86034.1
      UniProtKB/Swiss-Prot
      A8K9H6, J3QR46, Q15053, Q2NKQ0
      Related
      ENSP00000463734.1, ENST00000444639.5

    3. NM_001162895.2 → NP_001156367.1  uncharacterized protein KIAA0040

      See identical proteins and their annotated locations for NP_001156367.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and differs in the 5' UTR, compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AL049800, BC050374, DB232064, Z99715
      Consensus CDS
      CCDS86034.1
      UniProtKB/Swiss-Prot
      A8K9H6, J3QR46, Q15053, Q2NKQ0
      Related
      ENSP00000464040.1, ENST00000545251.6

    4. NM_001319230.2 → NP_001306159.1  uncharacterized protein KIAA0040

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AL049800, DA414485, DA852435, Z99715
      Consensus CDS
      CCDS86034.1
      UniProtKB/Swiss-Prot
      A8K9H6, J3QR46, Q15053, Q2NKQ0

    5. NM_001319231.2 → NP_001306160.1  uncharacterized protein KIAA0040

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AL049800, DB232064, DB234724, Z99715
      Consensus CDS
      CCDS86034.1
      UniProtKB/Swiss-Prot
      A8K9H6, J3QR46, Q15053, Q2NKQ0

    6. NM_014656.3 → NP_055471.2  uncharacterized protein KIAA0040

      See identical proteins and their annotated locations for NP_055471.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AL049799, Z99715
      Consensus CDS
      CCDS86034.1
      UniProtKB/Swiss-Prot
      A8K9H6, J3QR46, Q15053, Q2NKQ0
      Related
      ENSP00000462172.1, ENST00000423313.6

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      175156986..175192987 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435111.1 → XP_047291067.1  uncharacterized protein KIAA0040 isoform X1

      UniProtKB/TrEMBL
      A0A024R935, A0A024R946, A0A384DVV8
      Related
      ENSP00000478803.1, ENST00000619513.1

    2. XM_017002911.3 → XP_016858400.1  uncharacterized protein KIAA0040 isoform X2

      UniProtKB/Swiss-Prot
      A8K9H6, J3QR46, Q15053, Q2NKQ0

    3. XM_047435110.1 → XP_047291066.1  uncharacterized protein KIAA0040 isoform X1

      UniProtKB/TrEMBL
      A0A024R935, A0A024R946, A0A384DVV8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      174510730..174546720 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339751.1 → XP_054195726.1  uncharacterized protein KIAA0040 isoform X1

      UniProtKB/TrEMBL
      A0A024R935, A0A024R946, A0A384DVV8

    2. XM_054339752.1 → XP_054195727.1  uncharacterized protein KIAA0040 isoform X2

    3. XM_054339750.1 → XP_054195725.1  uncharacterized protein KIAA0040 isoform X1

      UniProtKB/TrEMBL
      A0A024R935, A0A024R946, A0A384DVV8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15053.2 GenPept UniProtKB/Swiss-Prot:Q15053

    Gene LinkOut

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