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

Gene ID: 54346, updated on 14-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 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

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