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    KIAA0825 KIAA0825 [ Homo sapiens (human) ]

    Gene ID: 285600, updated on 7-Apr-2024

    Summary

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    Official Symbol
    KIAA0825provided by HGNC
    Official Full Name
    KIAA0825provided by HGNC
    Primary source
    HGNC:HGNC:28532
    See related
    Ensembl:ENSG00000185261 MIM:617266; AllianceGenome:HGNC:28532
    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
    PAPA10; C5orf36
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q15
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (94150851..94618604, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (94634907..95102987, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (93486556..93954309, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:93091910-93092657 Neighboring gene ARB2 cotranscriptional regulator A Neighboring gene nucleophosmin 1 pseudogene 27 Neighboring gene POU domain class 5, transcription factor 2 Neighboring gene VISTA enhancer hs271 Neighboring gene MPRA-validated peak5355 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:93361212-93361712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22789 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:93393287-93393833 Neighboring gene uncharacterized LOC105379087 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:93520520-93521028 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:93690795-93691426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:93692061-93692692 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:93697863-93698503 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:93800512-93801711 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:93908890-93909675 Neighboring gene FAST kinase domains 1 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:93953323-93954187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:93968657-93969156 Neighboring gene MT-ND5 pseudogene 12 Neighboring gene MT-CYB pseudogene 35 Neighboring gene MT-ND6 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22793 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:94128945-94130144 Neighboring gene SMC5-SMC6 complex localization factor 1 Neighboring gene multiple C2 and transmembrane domain containing 1 Neighboring gene ribosomal protein L7 pseudogene 18 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22795 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:94365679-94365868 Neighboring gene MPRA-validated peak5358 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22797 Neighboring gene uncharacterized LOC105379085

    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. Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A. Yao Y, et al. Genes (Basel), 2022 Jul 11. PMID 35886013, Free PMC Article
    2. Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A. Hayat A, et al. Genomics, 2020 Jul. PMID 32147526
    3. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Ullah I, et al. Hum Genet, 2019 Jun. PMID 30982135, Free PMC Article
    4. Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly. Ahmad S, et al. Genes (Basel), 2023 Apr 5. PMID 37107627, Free PMC Article
    5. Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. Schilit SL, et al. Eur J Hum Genet, 2016 Nov. PMID 27381092, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.
      Title: Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.
    2. Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A.
      Title: Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A.
    3. Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.
      Title: Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.
    4. Data indicate a catalog of genes include important in limb patterning including KIAA0825 (C5orf36), suggesting a better diagnosis and understanding of the biology of polydactyly.
      Title: Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
    5. Disruption of the orphan receptor ESRRG and disruption of KIAA0825 identified in a subject with hearing loss and mild developmental delay.
      Title: Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.
    6. 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

    Associated conditions

    Description Tests
    Polydactyly, postaxial, type a10
    MedGen: C5193129 OMIM: 618498 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.
    EBI GWAS Catalog
    Genome-wide association study identifies ALLC polymorphisms correlated with FEV₁ change by corticosteroid.
    EBI GWAS Catalog
    Genome-wide association study of diabetic retinopathy in a Taiwanese population.
    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

    Clone Names

    • FLJ27431, KIAA0825, MGC34713, DKFZp686F0372

    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 KIAA0825

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001145678.3 → NP_001139150.1  uncharacterized protein KIAA0825 isoform 1

      See identical proteins and their annotated locations for NP_001139150.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC025766, AC093311, AC104127, AC117521
      Consensus CDS
      CCDS93745.1
      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33
      UniProtKB/TrEMBL
      A0A804HHT9
      Related
      ENSP00000506760.1, ENST00000682413.1
      Conserved Domains (1) summary
      pfam14906
      Location:515 → 832
      DUF4495; Domain of unknown function (DUF4495)

    2. NM_001385712.1 → NP_001372641.1  uncharacterized protein KIAA0825 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311, AC104127, AC117521
      Consensus CDS
      CCDS93746.1
      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33
      UniProtKB/TrEMBL
      A0A994J718
      Conserved Domains (1) summary
      pfam14906
      Location:515 → 832
      DUF4495; Domain of unknown function (DUF4495)

    3. NM_001385713.1 → NP_001372642.1  uncharacterized protein KIAA0825 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311, AC117521
      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33
      Conserved Domains (1) summary
      pfam14906
      Location:515 → 832
      DUF4495; Domain of unknown function (DUF4495)

    4. NM_001385714.1 → NP_001372643.1  uncharacterized protein KIAA0825 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311

    5. NM_001385715.1 → NP_001372644.1  uncharacterized protein KIAA0825 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311
      Consensus CDS
      CCDS4070.1

    6. NM_001385716.1 → NP_001372645.1  uncharacterized protein KIAA0825 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311
      Consensus CDS
      CCDS4070.1

    7. NM_001385717.1 → NP_001372646.1  uncharacterized protein KIAA0825 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311
      Consensus CDS
      CCDS4070.1

    8. NM_001385719.1 → NP_001372648.1  uncharacterized protein KIAA0825 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311
      Consensus CDS
      CCDS4070.1

    9. NM_001385720.1 → NP_001372649.1  uncharacterized protein KIAA0825 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311
      Consensus CDS
      CCDS4070.1

    10. NM_001385721.1 → NP_001372650.1  uncharacterized protein KIAA0825 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311
      Consensus CDS
      CCDS4070.1

    11. NM_001385722.1 → NP_001372651.1  uncharacterized protein KIAA0825 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311
      Consensus CDS
      CCDS4070.1

    12. NM_001385723.1 → NP_001372652.1  uncharacterized protein KIAA0825 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311
      Consensus CDS
      CCDS4070.1

    13. NM_001385724.1 → NP_001372653.1  uncharacterized protein KIAA0825 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311

    14. NM_001385728.1 → NP_001372657.1  uncharacterized protein KIAA0825 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311
      Consensus CDS
      CCDS4070.1

    15. NM_001385729.1 → NP_001372658.1  uncharacterized protein KIAA0825 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311
      Consensus CDS
      CCDS4070.1

    16. NM_001385730.1 → NP_001372659.1  uncharacterized protein KIAA0825 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311
      Consensus CDS
      CCDS4070.1

    17. NM_001388325.1 → NP_001375254.1  uncharacterized protein KIAA0825 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311, AC104127, AC117521
      Consensus CDS
      CCDS93746.1
      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33
      UniProtKB/TrEMBL
      A0A994J718
      Related
      ENSP00000515512.1, ENST00000703867.1
      Conserved Domains (1) summary
      pfam14906
      Location:515 → 832
      DUF4495; Domain of unknown function (DUF4495)

    18. NM_173665.3 → NP_775936.1  uncharacterized protein KIAA0825 isoform 2

      See identical proteins and their annotated locations for NP_775936.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an early polyA signal that omits 16 exons from the 3' end, compared to variant 1. The resulting isoform (2) has a substantially shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK308195, BC035515, BX648338
      Consensus CDS
      CCDS4070.1
      UniProtKB/Swiss-Prot
      Q8IV33
      Related
      ENSP00000331385.6, ENST00000329378.7

    RNA

    1. NR_169751.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010448, AC025766, AC093311, AC117521

    2. NR_169752.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311

    3. NR_169753.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311

    4. NR_169754.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC025766, AC093311

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      94150851..94618604 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417110.1 → XP_047273066.1  uncharacterized protein KIAA0825 isoform X3

    2. XM_011543329.3 → XP_011541631.1  uncharacterized protein KIAA0825 isoform X1

      See identical proteins and their annotated locations for XP_011541631.1

      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33
      Conserved Domains (1) summary
      pfam14906
      Location:515 → 832
      DUF4495; Domain of unknown function (DUF4495)

    3. XM_017009374.2 → XP_016864863.1  uncharacterized protein KIAA0825 isoform X5

      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33

    4. XM_011543330.3 → XP_011541632.1  uncharacterized protein KIAA0825 isoform X2

      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33
      Conserved Domains (1) summary
      pfam14906
      Location:515 → 832
      DUF4495; Domain of unknown function (DUF4495)

    5. XM_011543324.3 → XP_011541626.1  uncharacterized protein KIAA0825 isoform X1

      See identical proteins and their annotated locations for XP_011541626.1

      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33
      Conserved Domains (1) summary
      pfam14906
      Location:515 → 832
      DUF4495; Domain of unknown function (DUF4495)

    6. XM_011543328.4 → XP_011541630.1  uncharacterized protein KIAA0825 isoform X1

      See identical proteins and their annotated locations for XP_011541630.1

      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33
      Conserved Domains (1) summary
      pfam14906
      Location:515 → 832
      DUF4495; Domain of unknown function (DUF4495)

    7. XM_011543325.4 → XP_011541627.1  uncharacterized protein KIAA0825 isoform X1

      See identical proteins and their annotated locations for XP_011541627.1

      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33
      Conserved Domains (1) summary
      pfam14906
      Location:515 → 832
      DUF4495; Domain of unknown function (DUF4495)

    8. XM_011543327.3 → XP_011541629.1  uncharacterized protein KIAA0825 isoform X1

      See identical proteins and their annotated locations for XP_011541629.1

      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33
      Conserved Domains (1) summary
      pfam14906
      Location:515 → 832
      DUF4495; Domain of unknown function (DUF4495)

    9. XM_011543335.3 → XP_011541637.1  uncharacterized protein KIAA0825 isoform X6

      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33
      Conserved Domains (1) summary
      pfam14906
      Location:403 → 720
      DUF4495; Domain of unknown function (DUF4495)

    10. XM_047417111.1 → XP_047273067.1  uncharacterized protein KIAA0825 isoform X7

    11. XM_017009373.2 → XP_016864862.1  uncharacterized protein KIAA0825 isoform X4

      UniProtKB/Swiss-Prot
      A0A088AWM3, O94914, Q6ZNN2, Q8IV33

    12. XM_047417112.1 → XP_047273068.1  uncharacterized protein KIAA0825 isoform X8

    RNA

    1. XR_948246.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      94634907..95102987 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352426.1 → XP_054208401.1  uncharacterized protein KIAA0825 isoform X3

    2. XM_054352421.1 → XP_054208396.1  uncharacterized protein KIAA0825 isoform X1

    3. XM_054352428.1 → XP_054208403.1  uncharacterized protein KIAA0825 isoform X5

    4. XM_054352425.1 → XP_054208400.1  uncharacterized protein KIAA0825 isoform X2

    5. XM_054352420.1 → XP_054208395.1  uncharacterized protein KIAA0825 isoform X1

    6. XM_054352422.1 → XP_054208397.1  uncharacterized protein KIAA0825 isoform X1

    7. XM_054352423.1 → XP_054208398.1  uncharacterized protein KIAA0825 isoform X1

    8. XM_054352424.1 → XP_054208399.1  uncharacterized protein KIAA0825 isoform X1

    9. XM_054352429.1 → XP_054208404.1  uncharacterized protein KIAA0825 isoform X6

    10. XM_054352430.1 → XP_054208405.1  uncharacterized protein KIAA0825 isoform X7

    11. XM_054352427.1 → XP_054208402.1  uncharacterized protein KIAA0825 isoform X4

    12. XM_054352431.1 → XP_054208406.1  uncharacterized protein KIAA0825 isoform X8

    RNA

    1. XR_008487111.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001385718.1: Suppressed sequence

      Description
      NM_001385718.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IV33.3 GenPept UniProtKB/Swiss-Prot:Q8IV33

    Gene LinkOut

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

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