U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    AKR1A1 aldo-keto reductase family 1 member A1 [ Homo sapiens (human) ]

    Gene ID: 10327, updated on 27-Nov-2024

    Summary

    Official Symbol
    AKR1A1provided by HGNC
    Official Full Name
    aldo-keto reductase family 1 member A1provided by HGNC
    Primary source
    HGNC:HGNC:380
    See related
    Ensembl:ENSG00000117448 MIM:103830; AllianceGenome:HGNC:380
    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
    ALR; ARM; DD3; ALDR1; HEL-S-6
    Summary
    This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in kidney (RPKM 113.8), duodenum (RPKM 66.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AKR1A1 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45550826..45570049)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45423192..45442415)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46016498..46035721)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene metabolism of cobalamin associated C Neighboring gene ReSE screen-validated silencer GRCh37_chr1:45986750-45986912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 973 Neighboring gene peroxiredoxin 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45992726-45993234 Neighboring gene high mobility group box 1 pseudogene 48 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46003942-46004442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46004443-46004943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46021723-46022469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46022470-46023215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46054000-46054500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46054501-46055001 Neighboring gene MPRA-validated peak199 silencer Neighboring gene nuclear autoantigenic sperm protein Neighboring gene coiled-coil domain containing 17

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC1380, MGC12529

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    aldo-keto reductase family 1 member A1
    Names
    HEL-S-165mP
    S-nitroso-CoA reductase
    alcohol dehydrogenase
    aldehyde reductase
    dihydrodiol dehydrogenase 3
    epididymis secretory protein Li 6
    epididymis secretory sperm binding protein Li 165mP
    glucuronate reductase
    glucuronolactone reductase
    scorR
    NP_001189342.1
    NP_001189343.1
    NP_006057.1
    NP_697021.1
    XP_011538793.1
    XP_047284746.1
    XP_047284771.1
    XP_054189782.1
    XP_054189783.1
    XP_054189784.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001202413.2NP_001189342.1  aldo-keto reductase family 1 member A1

      See identical proteins and their annotated locations for NP_001189342.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AU142853, BI549149, BT007003, BU631634
      Consensus CDS
      CCDS523.1
      UniProtKB/Swiss-Prot
      A8KAL8, D3DQ04, P14550, Q6IAZ4
      UniProtKB/TrEMBL
      V9HWI0
      Related
      ENSP00000480713.1, ENST00000621846.4
      Conserved Domains (1) summary
      COG0656
      Location:6303
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    2. NM_001202414.2NP_001189343.1  aldo-keto reductase family 1 member A1

      See identical proteins and their annotated locations for NP_001189343.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      BI549149, BT007003, BU631634, CX788871
      Consensus CDS
      CCDS523.1
      UniProtKB/Swiss-Prot
      A8KAL8, D3DQ04, P14550, Q6IAZ4
      UniProtKB/TrEMBL
      V9HWI0
      Conserved Domains (1) summary
      COG0656
      Location:6303
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    3. NM_006066.4NP_006057.1  aldo-keto reductase family 1 member A1

      See identical proteins and their annotated locations for NP_006057.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All variants encode the same protein.
      Source sequence(s)
      BC000670, BU631634, DA871469
      Consensus CDS
      CCDS523.1
      UniProtKB/Swiss-Prot
      A8KAL8, D3DQ04, P14550, Q6IAZ4
      UniProtKB/TrEMBL
      V9HWI0
      Related
      ENSP00000361140.3, ENST00000372070.7
      Conserved Domains (1) summary
      COG0656
      Location:6303
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    4. NM_153326.3NP_697021.1  aldo-keto reductase family 1 member A1

      See identical proteins and their annotated locations for NP_697021.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      BI549149, BT007003, BU631634, DA550374
      Consensus CDS
      CCDS523.1
      UniProtKB/Swiss-Prot
      A8KAL8, D3DQ04, P14550, Q6IAZ4
      UniProtKB/TrEMBL
      V9HWI0
      Related
      ENSP00000312606.4, ENST00000351829.9
      Conserved Domains (1) summary
      COG0656
      Location:6303
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      45550826..45570049
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540491.3XP_011538793.1  aldo-keto reductase family 1 member A1 isoform X1

      See identical proteins and their annotated locations for XP_011538793.1

      Conserved Domains (1) summary
      cl00470
      Location:1201
      AKR_SF; Aldo-keto reductase (AKR) superfamily
    2. XM_047428815.1XP_047284771.1  aldo-keto reductase family 1 member A1 isoform X2

    3. XM_047428790.1XP_047284746.1  aldo-keto reductase family 1 member A1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      45423192..45442415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333807.1XP_054189782.1  aldo-keto reductase family 1 member A1 isoform X1

    2. XM_054333809.1XP_054189784.1  aldo-keto reductase family 1 member A1 isoform X2

    3. XM_054333808.1XP_054189783.1  aldo-keto reductase family 1 member A1 isoform X2