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KIAA0930 KIAA0930 [ Homo sapiens (human) ]

Gene ID: 23313, updated on 5-Mar-2024

Summary

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Official Symbol
KIAA0930provided by HGNC
Official Full Name
KIAA0930provided by HGNC
Primary source
HGNC:HGNC:1314
See related
Ensembl:ENSG00000100364 MIM:619709; AllianceGenome:HGNC:1314
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
LSC3; C22orf9
Expression
Ubiquitous expression in brain (RPKM 20.3), skin (RPKM 12.7) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
22q13.31
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (45192244..45240894, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45676669..45725998, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45588125..45636775, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5228 Neighboring gene NUP50 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 5104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:45559735-45560257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13874 Neighboring gene uncharacterized LOC105373064 Neighboring gene nucleoporin 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45586750-45587250 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:45598280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45606871-45607371 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45607503-45608052 Neighboring gene microRNA 1249 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45608053-45608602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45619103-45619604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45619605-45620104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45620306-45621300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45621301-45622293 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:45629066 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:45631393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13878 Neighboring gene HNF1 motif-containing MPRA enhancer 63 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45659291-45660126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45665375-45666026 Neighboring gene ribosomal protein S10 pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45686240-45686773 Neighboring gene uroplakin 3A

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. Protein-altering germline mutations implicate novel genes related to lung cancer development. Ji X, et al. Nat Commun, 2020 May 11. PMID 32393777, Free PMC Article
  2. Lysine acetylation targets protein complexes and co-regulates major cellular functions. Choudhary C, et al. Science, 2009 Aug 14. PMID 19608861
  3. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Feb 26. PMID 10231032
  4. Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. Jin J, et al. Curr Biol, 2004 Aug 24. PMID 15324660
  5. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Protein-altering germline mutations implicate novel genes related to lung cancer development.
    Title: Protein-altering germline mutations implicate novel genes related to lung cancer development.
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

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 biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
uncharacterized protein KIAA0930

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_001009880.2 → NP_001009880.1  uncharacterized protein KIAA0930 isoform b

    See identical proteins and their annotated locations for NP_001009880.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AI830875, AK025608, AL008718, BC053595
    Consensus CDS
    CCDS33665.1
    UniProtKB/Swiss-Prot
    B0QY17, B0QY19, B3KT48, Q6ICG6, Q6ZVE5, Q7Z6K9, Q8IZ76, Q9Y2E2
    UniProtKB/TrEMBL
    B0AZU2
    Related
    ENSP00000336720.4, ENST00000336156.10
    Conserved Domains (1) summary
    pfam09741
    Location:30 → 257
    DUF2045; Uncharacterized conserved protein (DUF2045)

  2. NM_015264.2 → NP_056079.1  uncharacterized protein KIAA0930 isoform a

    See identical proteins and their annotated locations for NP_056079.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK025608, AK124648, AL008718
    Consensus CDS
    CCDS33666.1
    UniProtKB/TrEMBL
    B0AZU2
    Related
    ENSP00000251993.7, ENST00000251993.11
    Conserved Domains (1) summary
    pfam09741
    Location:35 → 262
    DUF2045; Uncharacterized conserved protein (DUF2045)

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    45192244..45240894 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    45676669..45725998 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ICG6.1 GenPept UniProtKB/Swiss-Prot:Q6ICG6

Gene LinkOut

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

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