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    KIAA0100 KIAA0100 [ Homo sapiens (human) ]

    Gene ID: 9703, updated on 15-Sep-2018

    Summary

    Official Symbol
    KIAA0100provided by HGNC
    Official Full Name
    KIAA0100provided by HGNC
    Primary source
    HGNC:HGNC:28960
    See related
    Ensembl:ENSG00000007202 MIM:610664; Vega:OTTHUMG00000166587
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BCOX; BCOX1; CT101; FMP27
    Summary
    This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3' UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in kidney (RPKM 27.5), thyroid (RPKM 25.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See KIAA0100 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (28614440..28645159, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26941458..26972177, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene sperm associated antigen 5 Neighboring gene SPAG5 antisense RNA 1 Neighboring gene ribosomal protein S6 kinase related Neighboring gene stromal cell derived factor 2 Neighboring gene ribosomal protein S12 pseudogene 28 Neighboring gene SPT6 homolog, histone chaperone

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC111488, MGC134981, DKFZp686M0843

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein KIAA0100
    Names
    U937-associated antigen
    antigen MLAA-22
    breast cancer overexpressed gene 1
    breast cancer-overexpressed gene 1 protein
    cancer/testis antigen 101

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_053109.1 RefSeqGene

      Range
      5296..36015
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321560.1NP_001308489.1  protein KIAA0100 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC005726
      Conserved Domains (3) summary
      pfam10344
      Location:26674
      Fmp27; Mitochondrial protein from FMP27
      pfam10347
      Location:10281160
      Fmp27_GFWDK; RNA pol II promoter Fmp27 protein domain
      pfam10351
      Location:17022175
      Apt1; Golgi-body localization protein domain
    2. NM_001321561.1NP_001308490.1  protein KIAA0100 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AW161205, BC050440
      Conserved Domains (1) summary
      pfam10344
      Location:26410
      Fmp27; Mitochondrial protein from FMP27
    3. NM_001363826.1NP_001350755.1  protein KIAA0100 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC005726
      Consensus CDS
      CCDS86585.1
      Conserved Domains (3) summary
      pfam10344
      Location:1531
      Fmp27; Mitochondrial protein from FMP27
      pfam10347
      Location:8851017
      Fmp27_GFWDK; RNA pol II promoter Fmp27 protein domain
      pfam10351
      Location:15602033
      Apt1; Golgi-body localization protein domain
    4. NM_001363827.1NP_001350756.1  protein KIAA0100 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC005726
    5. NM_001363828.1NP_001350757.1  protein KIAA0100 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC005726
      Conserved Domains (2) summary
      pfam10347
      Location:353485
      Fmp27_GFWDK; RNA pol II promoter Fmp27 protein domain
      pfam10351
      Location:10281501
      Apt1; Golgi-body localization protein domain
    6. NM_001363829.1NP_001350758.1  protein KIAA0100 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC005726
    7. NM_014680.4NP_055495.2  protein KIAA0100 isoform 1 precursor

      See identical proteins and their annotated locations for NP_055495.2

      Status: REVIEWED

      Source sequence(s)
      AW161205, BM999622, D43947, DB152098
      Consensus CDS
      CCDS32595.1
      UniProtKB/Swiss-Prot
      Q14667
      Related
      ENSP00000436773.2, OTTHUMP00000233595, ENST00000528896.6
      Conserved Domains (3) summary
      pfam10344
      Location:26674
      Fmp27; Mitochondrial protein from FMP27
      pfam10347
      Location:10281160
      Fmp27_GFWDK; RNA pol II promoter Fmp27 protein domain
      pfam10351
      Location:17032176
      Apt1; Golgi-body localization protein domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      28614440..28645159 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025423.1XP_016880912.1  protein KIAA0100 isoform X1

      UniProtKB/TrEMBL
      Q08E86
      Related
      ENSP00000446443.1, ENST00000544884.5
      Conserved Domains (3) summary
      pfam10344
      Location:1531
      Fmp27; Mitochondrial protein from FMP27
      pfam10347
      Location:8851017
      Fmp27_GFWDK; RNA pol II promoter Fmp27 protein domain
      pfam10351
      Location:15602033
      Apt1; Golgi-body localization protein domain
    2. XM_024451044.1XP_024306812.1  protein KIAA0100 isoform X2

      Conserved Domains (2) summary
      pfam10347
      Location:353485
      Fmp27_GFWDK; RNA pol II promoter Fmp27 protein domain
      pfam10351
      Location:10281501
      Apt1; Golgi-body localization protein domain

    RNA

    1. XR_002958095.1 RNA Sequence

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