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KIAA1958 KIAA1958 [ Homo sapiens (human) ]

Gene ID: 158405, updated on 10-Oct-2023

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
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Genomic context

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See KIAA1958 in Genome Data Viewer
Location:
9q32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (112486827..112669397)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (124658017..124840630)
105.20220307 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 (19) 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)

Genotypes

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_2023_10

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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