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    KIAA1958 KIAA1958 [ Homo sapiens (human) ]

    Gene ID: 158405, updated on 17-Sep-2024

    Summary

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    Official Symbol
    KIAA1958provided by HGNC
    Official Full Name
    KIAA1958provided by HGNC
    Primary source
    HGNC:HGNC:23427
    See related
    Ensembl:ENSG00000165185 MIM:617390; AllianceGenome:HGNC:23427
    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
    Broad expression in ovary (RPKM 2.3), adrenal (RPKM 2.3) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
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    Try the new Transcript table

    Genomic context

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    See KIAA1958 in Genome Data Viewer
    Location:
    9q32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (112486827..112669397)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (124658017..124840630)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (115249107..115431677)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene polypyrimidine tract binding protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28823 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:115141971-115142570 Neighboring gene ribosomal protein L32 pseudogene 22 Neighboring gene hydroxysteroid dehydrogenase like 2 Neighboring gene HSDL2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20193 Neighboring gene Sharpr-MPRA regulatory region 4745 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:115309395-115309946 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:115309947-115310499 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:115310500-115311051 Neighboring gene Sharpr-MPRA regulatory region 8480 Neighboring gene NANOG hESC enhancer GRCh37_chr9:115313867-115314374 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:115357836-115358025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:115380828-115381410 Neighboring gene MPRA-validated peak7319 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28828 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:115512887-115513808 Neighboring gene INTS3 and NABP interacting protein Neighboring gene SNX30 divergent transcript Neighboring gene sorting nexin family member 30

    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. Crypton transposons: identification of new diverse families and ancient domestication events. Kojima KK, et al. Mob DNA, 2011 Oct 19. PMID 22011512, Free PMC Article
    2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
    3. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Connaughton DM, et al. Am J Hum Genet, 2020 Oct 1. PMID 32891193, Free PMC Article
    4. High Throughput Chemical Screening Reveals Multiple Regulatory Proteins on FOXA1 in Breast Cancer Cell Lines. Wang S, et al. Int J Mol Sci, 2018 Dec 19. PMID 30572598, Free PMC Article
    5. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    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

    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

    • FLJ39294, MGC142075

    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 KIAA1958

    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_001287036.2 → NP_001273965.1  uncharacterized protein KIAA1958 isoform a

      See identical proteins and their annotated locations for NP_001273965.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB075838, AI498819, AK096613, AL162732, AL390067, BC143424
      Consensus CDS
      CCDS69642.1
      UniProtKB/Swiss-Prot
      Q8N8K9
      Related
      ENSP00000440504.1, ENST00000536272.5
      Conserved Domains (1) summary
      pfam12012
      Location:560 → 714
      DUF3504; Domain of unknown function (DUF3504)

    2. NM_001287038.2 → NP_001273967.1  uncharacterized protein KIAA1958 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, and uses an alternate splice site that results in a shorter 3' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AB075838, AI498819, AK096613, AL162732, BC143372
      UniProtKB/Swiss-Prot
      Q8N8K9
      Conserved Domains (1) summary
      pfam03154
      Location:226 → 405
      Atrophin-1; Atrophin-1 family

    3. NM_133465.4 → NP_597722.1  uncharacterized protein KIAA1958 isoform b

      See identical proteins and their annotated locations for NP_597722.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AB075838, AI498819, AK096613, AL162732, AL390067
      Consensus CDS
      CCDS35108.1
      UniProtKB/Swiss-Prot
      B7ZKW6, Q2M336, Q5T252, Q8N8K9, Q8TF43, Q96N02
      Related
      ENSP00000336940.6, ENST00000337530.11
      Conserved Domains (1) summary
      pfam12012
      Location:532 → 686
      DUF3504; Domain of unknown function (DUF3504)

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      112486827..112669397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518311.3 → XP_011516613.1  uncharacterized protein KIAA1958 isoform X1

      See identical proteins and their annotated locations for XP_011516613.1

      UniProtKB/Swiss-Prot
      Q8N8K9
      Related
      ENSP00000363362.3, ENST00000374244.3
      Conserved Domains (1) summary
      cl00213
      Location:523 → 669
      DNA_BRE_C; DNA breaking-rejoining enzymes, C-terminal catalytic domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      124658017..124840630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362160.1 → XP_054218135.1  uncharacterized protein KIAA1958 isoform X3

    2. XM_054362159.1 → XP_054218134.1  uncharacterized protein KIAA1958 isoform X2

      UniProtKB/Swiss-Prot
      B7ZKW6, Q2M336, Q5T252, Q8N8K9, Q8TF43, Q96N02

    3. XM_054362158.1 → XP_054218133.1  uncharacterized protein KIAA1958 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8K9.1 GenPept UniProtKB/Swiss-Prot:Q8N8K9

    Gene LinkOut

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

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