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    UNC93A unc-93 homolog A [ Homo sapiens (human) ]

    Gene ID: 54346, updated on 27-Nov-2024

    Summary

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    Official Symbol
    UNC93Aprovided by HGNC
    Official Full Name
    unc-93 homolog Aprovided by HGNC
    Primary source
    HGNC:HGNC:12570
    See related
    Ensembl:ENSG00000112494 MIM:607995; AllianceGenome:HGNC:12570
    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
    Unc-93A; dJ366N23.1; dJ366N23.2
    Summary
    Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in skin (RPKM 2.6), duodenum (RPKM 2.2) and 5 other tissues See more
    Orthologs
    all
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    Genomic context

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    See UNC93A in Genome Data Viewer
    Location:
    6q27
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (167269032..167316014)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (168651681..168698649)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (167704803..167729502)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724220 Neighboring gene human pluripotency-associated transcript 5 Neighboring gene uncharacterized LOC102725048 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:167658429-167659398 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:167681138-167682337 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:167693405-167693918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167694745-167695246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167695247-167695746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:167701027-167701535 Neighboring gene Sharpr-MPRA regulatory region 7476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167707065-167707966 Neighboring gene Sharpr-MPRA regulatory region 10682 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:167727314-167728288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167730158-167730953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167738113-167738614 Neighboring gene tubulin tyrosine ligase like 2 Neighboring gene mitotic arrest deficient 2 like 1 pseudogene

    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. The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer. Liu Y, et al. BMC Genet, 2002 Oct 15. PMID 12381271, Free PMC Article
    2. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Saleheen D, et al. Nature, 2017 Apr 12. PMID 28406212, Free PMC Article
    3. A systematic survey of loss-of-function variants in human protein-coding genes. MacArthur DG, et al. Science, 2012 Feb 17. PMID 22344438, Free PMC Article
    4. Identification of a large set of rare complete human knockouts. Sulem P, et al. Nat Genet, 2015 May. PMID 25807282
    5. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Rausell A, et al. Proc Natl Acad Sci U S A, 2020 Jun 16. PMID 32487729, Free PMC Article

    See all (11) 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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-03)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-03)

    ClinGen Genome Curation PagePubMed

    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

    • MGC119395, MGC119397

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein unc-93 homolog A
    Names
    dJ366N23.1 (putative C. elegans UNC-93 (protein 1, C46F11.1) LIKE)
    dJ366N23.2 (putative C. elegans UNC-93 (protein 1, C46F11.1) C-terminal LIKE)
    unc93 homolog A

    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_001143947.2 → NP_001137419.1  protein unc-93 homolog A isoform 2

      See identical proteins and their annotated locations for NP_001137419.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AJ422141, AK091987, BC105635
      Consensus CDS
      CCDS47515.1
      UniProtKB/Swiss-Prot
      Q86WB7
      Related
      ENSP00000355794.2, ENST00000366829.2
      Conserved Domains (1) summary
      cd06174
      Location:8 → 386
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

    2. NM_018974.4 → NP_061847.2  protein unc-93 homolog A isoform 1

      See identical proteins and their annotated locations for NP_061847.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ422141, AK091987
      Consensus CDS
      CCDS5300.1
      UniProtKB/Swiss-Prot
      B3KRP5, Q4QQJ4, Q5JZD6, Q86WB7
      Related
      ENSP00000230256.3, ENST00000230256.8
      Conserved Domains (2) summary
      cd06174
      Location:8 → 428
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:11 → 398
      MFS_1; Major Facilitator Superfamily

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      167269032..167316014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010958.1 → XP_016866447.1  protein unc-93 homolog A isoform X1

      UniProtKB/Swiss-Prot
      B3KRP5, Q4QQJ4, Q5JZD6, Q86WB7
      Conserved Domains (2) summary
      cd06174
      Location:8 → 428
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:11 → 398
      MFS_1; Major Facilitator Superfamily

    2. XM_011535908.3 → XP_011534210.1  protein unc-93 homolog A isoform X2

      Conserved Domains (1) summary
      cd06174
      Location:8 → 369
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

    3. XM_011535906.3 → XP_011534208.1  protein unc-93 homolog A isoform X1

      See identical proteins and their annotated locations for XP_011534208.1

      UniProtKB/Swiss-Prot
      B3KRP5, Q4QQJ4, Q5JZD6, Q86WB7
      Conserved Domains (2) summary
      cd06174
      Location:8 → 428
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:11 → 398
      MFS_1; Major Facilitator Superfamily

    4. XM_011535905.3 → XP_011534207.1  protein unc-93 homolog A isoform X1

      See identical proteins and their annotated locations for XP_011534207.1

      UniProtKB/Swiss-Prot
      B3KRP5, Q4QQJ4, Q5JZD6, Q86WB7
      Conserved Domains (2) summary
      cd06174
      Location:8 → 428
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:11 → 398
      MFS_1; Major Facilitator Superfamily

    5. XM_047418901.1 → XP_047274857.1  protein unc-93 homolog A isoform X3

    6. XM_011535907.3 → XP_011534209.1  protein unc-93 homolog A isoform X1

      See identical proteins and their annotated locations for XP_011534209.1

      UniProtKB/Swiss-Prot
      B3KRP5, Q4QQJ4, Q5JZD6, Q86WB7
      Conserved Domains (2) summary
      cd06174
      Location:8 → 428
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:11 → 398
      MFS_1; Major Facilitator Superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      168651681..168698649
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355674.1 → XP_054211649.1  protein unc-93 homolog A isoform X1

      UniProtKB/Swiss-Prot
      B3KRP5, Q4QQJ4, Q5JZD6, Q86WB7

    2. XM_054355676.1 → XP_054211651.1  protein unc-93 homolog A isoform X2

    3. XM_054355677.1 → XP_054211652.1  protein unc-93 homolog A isoform X3

    4. XM_054355675.1 → XP_054211650.1  protein unc-93 homolog A isoform X1

      UniProtKB/Swiss-Prot
      B3KRP5, Q4QQJ4, Q5JZD6, Q86WB7

    5. XM_054355672.1 → XP_054211647.1  protein unc-93 homolog A isoform X1

      UniProtKB/Swiss-Prot
      B3KRP5, Q4QQJ4, Q5JZD6, Q86WB7

    6. XM_054355673.1 → XP_054211648.1  protein unc-93 homolog A isoform X1

      UniProtKB/Swiss-Prot
      B3KRP5, Q4QQJ4, Q5JZD6, Q86WB7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WB7.1 GenPept UniProtKB/Swiss-Prot:Q86WB7

    Gene LinkOut

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

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