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    KIAA0513 KIAA0513 [ Homo sapiens (human) ]

    Gene ID: 9764, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KIAA0513provided by HGNC
    Official Full Name
    KIAA0513provided by HGNC
    Primary source
    HGNC:HGNC:29058
    See related
    Ensembl:ENSG00000135709 MIM:611675; AllianceGenome:HGNC:29058
    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 cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 26.5), adrenal (RPKM 3.5) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIAA0513 in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (85027795..85094230)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (91094420..91160858)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (85061401..85127836)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84981710-84982210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84982211-84982711 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:85009937-85011136 Neighboring gene zinc finger DHHC-type palmitoyltransferase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85028227-85028727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85038209-85038959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7796 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:85045288-85046044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85068709-85069209 Neighboring gene Sharpr-MPRA regulatory region 15308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85100891-85101391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85110035-85110590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85111701-85112255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85115357-85116184 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85116185-85117012 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85117013-85117838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85121851-85122676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85124326-85125149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11263 Neighboring gene CBY1 interacting BAR domain containing 2 Neighboring gene uncharacterized LOC105371381

    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 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. Comprehensive Analysis of Genome Rearrangements in Eight Human Malignant Tumor Tissues. Marczok S, et al. PLoS One, 2016. PMID 27391163, Free PMC Article
    2. Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton. Lauriat TL, et al. Brain Res, 2006 Nov 22. PMID 17010949
    3. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Ahmeti KB, et al. Neurobiol Aging, 2013 Jan. PMID 22959728, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Feb 28. PMID 9628581
    5. Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration. Tracy TE, et al. Cell, 2022 Feb 17. PMID 35063084, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KIAA0513 is likely to be involved in signaling pathways related to neuroplasticity, apoptosis, and cytoskeletal regulation and is upregulated in the prefrontal cortex in schizophrenia.
      Title: Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton.
    2. 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

    EBI GWAS Catalog

    Description
    Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
    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)

    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

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

    General protein information

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    Preferred Names
    uncharacterized protein KIAA0513

    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_001286565.1 → NP_001273494.1  uncharacterized protein KIAA0513 isoform a

      See identical proteins and their annotated locations for NP_001273494.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AB011085, AC026469, AF055005
      Consensus CDS
      CCDS32499.1
      UniProtKB/Swiss-Prot
      B4DSS5, D3DUM2, O60268, Q8N6G0
      Related
      ENSP00000457408.1, ENST00000566428.5
      Conserved Domains (1) summary
      pfam12335
      Location:290 → 362
      SBF2; Myotubularin protein

    2. NM_001286566.2 → NP_001273495.1  uncharacterized protein KIAA0513 isoform b

      See identical proteins and their annotated locations for NP_001273495.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC026469, AF055005, AK299892
      Consensus CDS
      CCDS67091.1
      UniProtKB/Swiss-Prot
      O60268
      Related
      ENSP00000446439.1, ENST00000538274.6
      Conserved Domains (1) summary
      pfam12335
      Location:290 → 332
      SBF2; Myotubularin protein

    3. NM_001297766.2 → NP_001284695.1  uncharacterized protein KIAA0513 isoform c

      See identical proteins and their annotated locations for NP_001284695.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. The resulting protein (isoform c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC092341, BC030280
      Consensus CDS
      CCDS73919.1
      UniProtKB/Swiss-Prot
      O60268
      Related
      ENSP00000455544.1, ENST00000567328.6

    4. NM_001388359.1 → NP_001375288.1  uncharacterized protein KIAA0513 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC026469, AC092341
      Consensus CDS
      CCDS32499.1
      UniProtKB/Swiss-Prot
      B4DSS5, D3DUM2, O60268, Q8N6G0
      Related
      ENSP00000507772.1, ENST00000683363.1

    5. NM_014732.4 → NP_055547.1  uncharacterized protein KIAA0513 isoform a

      See identical proteins and their annotated locations for NP_055547.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AB011085, AC026469, AF055005, AK299892
      Consensus CDS
      CCDS32499.1
      UniProtKB/Swiss-Prot
      B4DSS5, D3DUM2, O60268, Q8N6G0
      Conserved Domains (1) summary
      pfam12335
      Location:290 → 362
      SBF2; Myotubularin protein

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      85027795..85094230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434984.1 → XP_047290940.1  uncharacterized protein KIAA0513 isoform X2

    2. XM_047434982.1 → XP_047290938.1  uncharacterized protein KIAA0513 isoform X1

      UniProtKB/Swiss-Prot
      B4DSS5, D3DUM2, O60268, Q8N6G0

    3. XM_017023912.2 → XP_016879401.1  uncharacterized protein KIAA0513 isoform X1

      UniProtKB/Swiss-Prot
      B4DSS5, D3DUM2, O60268, Q8N6G0
      Conserved Domains (1) summary
      pfam12335
      Location:290 → 362
      SBF2; Myotubularin protein

    4. XM_047434981.1 → XP_047290937.1  uncharacterized protein KIAA0513 isoform X1

      UniProtKB/Swiss-Prot
      B4DSS5, D3DUM2, O60268, Q8N6G0

    5. XM_047434983.1 → XP_047290939.1  uncharacterized protein KIAA0513 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      91094420..91160858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314540.1 → XP_054170515.1  uncharacterized protein KIAA0513 isoform X2

    2. XM_054314537.1 → XP_054170512.1  uncharacterized protein KIAA0513 isoform X1

      UniProtKB/Swiss-Prot
      B4DSS5, D3DUM2, O60268, Q8N6G0

    3. XM_054314538.1 → XP_054170513.1  uncharacterized protein KIAA0513 isoform X1

      UniProtKB/Swiss-Prot
      B4DSS5, D3DUM2, O60268, Q8N6G0

    4. XM_054314536.1 → XP_054170511.1  uncharacterized protein KIAA0513 isoform X1

      UniProtKB/Swiss-Prot
      B4DSS5, D3DUM2, O60268, Q8N6G0

    5. XM_054314539.1 → XP_054170514.1  uncharacterized protein KIAA0513 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60268.1 GenPept UniProtKB/Swiss-Prot:O60268

    Gene LinkOut

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