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HSDL1 hydroxysteroid dehydrogenase like 1 [ Homo sapiens (human) ]

Gene ID: 83693, updated on 3-May-2025
Official Symbol
HSDL1provided by HGNC
Official Full Name
hydroxysteroid dehydrogenase like 1provided by HGNC
Primary source
HGNC:HGNC:16475
See related
Ensembl:ENSG00000103160 MIM:619067; AllianceGenome:HGNC:16475
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
SDR12C3
Summary
Located in intermediate filament cytoskeleton and mitochondrion. [provided by Alliance of Genome Resources, May 2025]
Expression
Ubiquitous expression in thyroid (RPKM 18.3), brain (RPKM 13.0) and 24 other tissues See more
Orthologs
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See HSDL1 in Genome Data Viewer
Location:
16q24.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84122141..84145177, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90188232..90211260, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84155746..84178782, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11232 Neighboring gene MBTPS1 divergent transcript Neighboring gene polo like kinase 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84169151-84169748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84170943-84171538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7780 Neighboring gene dynein axonemal assembly factor 1 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit C Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:84220503-84221003 Neighboring gene Sharpr-MPRA regulatory region 3417 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84227912-84229111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84229267-84229889 Neighboring gene splicing factor proline/glutamine-rich Neighboring gene adenosine deaminase domain containing 2

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • MGC125994, MGC125995, MGC126032

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT enables steroid dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
inactive hydroxysteroid dehydrogenase-like protein 1
Names
short chain dehydrogenase/reductase family 12C member 3
steroid dehydrogenase-like protein

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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_001146051.2NP_001139523.1  inactive hydroxysteroid dehydrogenase-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_001139523.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment in the coding region, compared to variant 1. The encoded isoform (b) is shorter compared to isoform a.
    Source sequence(s)
    AK025626, AK074878, AK299798, BC018084, BC104218, DB525323, DC306668, H40440
    Consensus CDS
    CCDS54046.1
    UniProtKB/TrEMBL
    I6L975
    Related
    ENSP00000407437.3, ENST00000434463.7
    Conserved Domains (2) summary
    PLN02780
    Location:20252
    PLN02780; ketoreductase/ oxidoreductase
    cd05356
    Location:67254
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
  2. NM_031463.5NP_113651.4  inactive hydroxysteroid dehydrogenase-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_113651.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK025626, AK074878, AY028377, BC018084, DB525323, DC306668, H40440
    Consensus CDS
    CCDS10942.1
    UniProtKB/Swiss-Prot
    B4DSL2, D3DUL4, Q3SXM4, Q3SXM5, Q8NC98, Q9BY22
    UniProtKB/TrEMBL
    I6L975
    Related
    ENSP00000219439.4, ENST00000219439.9
    Conserved Domains (1) summary
    cd05356
    Location:67309
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    84122141..84145177 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256189.4XP_005256246.1  inactive hydroxysteroid dehydrogenase-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005256246.1

    UniProtKB/Swiss-Prot
    B4DSL2, D3DUL4, Q3SXM4, Q3SXM5, Q8NC98, Q9BY22
    UniProtKB/TrEMBL
    I6L975
    Conserved Domains (1) summary
    cd05356
    Location:67309
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    90188232..90211260 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314092.1XP_054170067.1  inactive hydroxysteroid dehydrogenase-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B4DSL2, D3DUL4, Q3SXM4, Q3SXM5, Q8NC98, Q9BY22
    UniProtKB/TrEMBL
    I6L975