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    KIAA1191 KIAA1191 [ Homo sapiens (human) ]

    Gene ID: 57179, updated on 14-Nov-2024

    Summary

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    Official Symbol
    KIAA1191provided by HGNC
    Official Full Name
    KIAA1191provided by HGNC
    Primary source
    HGNC:HGNC:29209
    See related
    Ensembl:ENSG00000122203 AllianceGenome:HGNC:29209
    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
    p33MONOX; p60MONOX
    Summary
    Predicted to enable oxidoreductase activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 91.5), ovary (RPKM 39.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIAA1191 in Genome Data Viewer
    Location:
    5q35.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (176346061..176361807, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (176890409..176906154, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (175773064..175788810, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175579338-175580322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175580323-175581305 Neighboring gene CEP192 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:175588089-175588329 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:175610533-175611123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175621561-175622251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175624383-175624884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16648 Neighboring gene SUMO interacting motifs containing 1 Neighboring gene BRCA1/BRCA2-containing complex subunit 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16649 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:175805661-175805825 Neighboring gene microRNA 1271 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:175815238-175816437 Neighboring gene ARF like GTPase 10 Neighboring gene NOP16 nucleolar protein

    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. The role of KIAA1191 in the necroptotic pathway of multiple myeloma. Xu Z, et al. Ann Hematol, 2022 Feb. PMID 34989828
    2. Brain site-specific gene expression analysis in Alzheimer's disease patients. Yokota T, et al. Eur J Clin Invest, 2006 Nov. PMID 17032350
    3. Isolation and characterization of novel CAG repeat containing genes expressed in human brain. Zühlke C, et al. DNA Seq, 1999. PMID 10565538
    4. Characterizing the novel protein p33MONOX. Mishra M, et al. Mol Cell Biochem, 2011 Apr. PMID 21153684
    5. Protein array analysis of oligomerization-induced changes in alpha-synuclein protein-protein interactions points to an interference with Cdc42 effector proteins. Schnack C, et al. Neuroscience, 2008 Jul 17. PMID 18541383

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21022, KIAA1191

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    putative monooxygenase p33MONOX
    Names
    brain-derived rescue factor p60MONOX
    flavin monooxygenase motif-containing protein of 33 kDa
    flavine monooxygenase motif-containing protein of 33 kDa
    p60MONOX brain-derived rescue factor

    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_001079684.3 → NP_001073152.1  putative monooxygenase p33MONOX isoform b

      See identical proteins and their annotated locations for NP_001073152.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks part of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Both variants 2 and 5 encode the same isoform.
      Source sequence(s)
      AA569811, AL390217, BC017097
      Consensus CDS
      CCDS43402.1
      UniProtKB/Swiss-Prot
      Q96A73
      Related
      ENSP00000377326.2, ENST00000393725.6
      Conserved Domains (1) summary
      pfam15302
      Location:1 → 286
      P33MONOX; P33 mono-oxygenase

    2. NM_001079685.3 → NP_001073153.1  putative monooxygenase p33MONOX isoform a

      See identical proteins and their annotated locations for NP_001073153.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Both variants 1 and 3 encode the same isoform (a).
      Source sequence(s)
      AA569811, BC017097, DA789543
      Consensus CDS
      CCDS4399.1
      UniProtKB/Swiss-Prot
      B2RD69, B8K1S6, Q6IA24, Q8NDU3, Q96A73, Q9BRE5, Q9H7D5, Q9ULM9
      Related
      ENSP00000421061.1, ENST00000510164.5
      Conserved Domains (1) summary
      pfam15302
      Location:17 → 305
      P33MONOX; P33 mono-oxygenase

    3. NM_001287335.2 → NP_001274264.1  putative monooxygenase p33MONOX isoform c

      See identical proteins and their annotated locations for NP_001274264.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks part of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AA569811, BX648859, HY114499
      Consensus CDS
      CCDS75373.1
      UniProtKB/TrEMBL
      A0A087WT18
      Related
      ENSP00000477518.1, ENST00000620366.4
      Conserved Domains (1) summary
      pfam15302
      Location:2 → 224
      P33MONOX; P33 mono-oxygenase

    4. NM_001287336.2 → NP_001274265.1  putative monooxygenase p33MONOX isoform b

      See identical proteins and their annotated locations for NP_001274265.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks part of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Both variants 2 and 5 encode the same isoform.
      Source sequence(s)
      AA569811, BX648859, HY119081
      Consensus CDS
      CCDS43402.1
      UniProtKB/Swiss-Prot
      Q96A73
      Related
      ENSP00000479627.1, ENST00000614420.4
      Conserved Domains (1) summary
      pfam15302
      Location:1 → 286
      P33MONOX; P33 mono-oxygenase

    5. NM_020444.5 → NP_065177.2  putative monooxygenase p33MONOX isoform a

      See identical proteins and their annotated locations for NP_065177.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AA569811, BX648859
      Consensus CDS
      CCDS4399.1
      UniProtKB/Swiss-Prot
      B2RD69, B8K1S6, Q6IA24, Q8NDU3, Q96A73, Q9BRE5, Q9H7D5, Q9ULM9
      Related
      ENSP00000298569.4, ENST00000298569.9
      Conserved Domains (1) summary
      pfam15302
      Location:17 → 305
      P33MONOX; P33 mono-oxygenase

    RNA

    1. NR_109796.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA569811, AL037719, BX648859, HY119081, HY120613

    2. NR_109797.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA569811, AL037719, BM547296, BX648859, HY119081

    3. NR_109798.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA569811, AL037719, BX648859, CN341192, HY119081

    4. NR_109799.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA569811, AL037719, BC012848, HY119081

    5. NR_109800.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA569811, AL037719, BC006316, HY119081
      Related
      ENST00000393728.6

    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
      176346061..176361807 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009651.2 → XP_016865140.1  putative monooxygenase p33MONOX isoform X2

      UniProtKB/TrEMBL
      A0A087WT18
      Conserved Domains (1) summary
      pfam15302
      Location:2 → 224
      P33MONOX; P33 mono-oxygenase

    2. XM_005265946.5 → XP_005266003.1  putative monooxygenase p33MONOX isoform X1

      See identical proteins and their annotated locations for XP_005266003.1

      UniProtKB/Swiss-Prot
      Q96A73
      Conserved Domains (1) summary
      pfam15302
      Location:1 → 286
      P33MONOX; P33 mono-oxygenase

    3. XM_047417401.1 → XP_047273357.1  putative monooxygenase p33MONOX isoform X2

      UniProtKB/TrEMBL
      A0A087WT18

    4. XM_047417402.1 → XP_047273358.1  putative monooxygenase p33MONOX isoform X3

    5. XM_047417400.1 → XP_047273356.1  putative monooxygenase p33MONOX isoform X2

      UniProtKB/TrEMBL
      A0A087WT18

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      176890409..176906154 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352948.1 → XP_054208923.1  putative monooxygenase p33MONOX isoform X2

      UniProtKB/TrEMBL
      A0A087WT18

    2. XM_054352946.1 → XP_054208921.1  putative monooxygenase p33MONOX isoform X1

    3. XM_054352949.1 → XP_054208924.1  putative monooxygenase p33MONOX isoform X2

      UniProtKB/TrEMBL
      A0A087WT18

    4. XM_054352950.1 → XP_054208925.1  putative monooxygenase p33MONOX isoform X3

    5. XM_054352947.1 → XP_054208922.1  putative monooxygenase p33MONOX isoform X2

      UniProtKB/TrEMBL
      A0A087WT18
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96A73.1 GenPept UniProtKB/Swiss-Prot:Q96A73

    Gene LinkOut

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

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