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

Gene ID: 54346, updated on 23-Nov-2021

Summary

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
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
Expression
Biased expression in skin (RPKM 2.6), duodenum (RPKM 2.2) and 5 other tissues See more
Orthologs
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Genomic context

See UNC93A in Genome Data Viewer
Location:
6q27
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (167269032..167316014)
105.20201022 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 uncharacterized LOC102725048 Neighboring gene Sharpr-MPRA regulatory region 7476 Neighboring gene tubulin tyrosine ligase like 2 Neighboring gene mitotic arrest deficient 2 like 1 pseudogene

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 Apr 4 07:08:55 2018

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119395, MGC119397

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
located_in integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001143947.2NP_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:8386
    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_018974.4NP_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
    Q86WB7
    Related
    ENSP00000230256.3, ENST00000230256.8
    Conserved Domains (2) summary
    cd06174
    Location:8428
    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:11398
    MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q86WB7
    Conserved Domains (2) summary
    cd06174
    Location:8428
    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:11398
    MFS_1; Major Facilitator Superfamily
  2. XM_011535906.2XP_011534208.1  protein unc-93 homolog A isoform X1

    See identical proteins and their annotated locations for XP_011534208.1

    UniProtKB/Swiss-Prot
    Q86WB7
    Conserved Domains (2) summary
    cd06174
    Location:8428
    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:11398
    MFS_1; Major Facilitator Superfamily
  3. XM_011535905.2XP_011534207.1  protein unc-93 homolog A isoform X1

    See identical proteins and their annotated locations for XP_011534207.1

    UniProtKB/Swiss-Prot
    Q86WB7
    Conserved Domains (2) summary
    cd06174
    Location:8428
    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:11398
    MFS_1; Major Facilitator Superfamily
  4. XM_011535907.2XP_011534209.1  protein unc-93 homolog A isoform X1

    See identical proteins and their annotated locations for XP_011534209.1

    UniProtKB/Swiss-Prot
    Q86WB7
    Conserved Domains (2) summary
    cd06174
    Location:8428
    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:11398
    MFS_1; Major Facilitator Superfamily
  5. XM_011535908.2XP_011534210.1  protein unc-93 homolog A isoform X2

    Conserved Domains (1) summary
    cd06174
    Location:8369
    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 ...
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