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KIAA0825 KIAA0825 [ Homo sapiens (human) ]

Gene ID: 285600, updated on 10-Oct-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
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Genomic context

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See KIAA0825 in Genome Data Viewer
Location:
5q15
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (94150851..94618604, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (94634907..95102987, complement)
RS_2024_09 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 22791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22792 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 MCTP1 antisense RNA 1

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. 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 (26) 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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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_2024_08

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

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