Format

Send to:

Choose Destination

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

Gene ID: 83693, updated on 25-Jan-2022

Summary

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
Predicted to enable oxidoreductase activity. Located in intermediate filament cytoskeleton and mitochondrion. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Ubiquitous expression in thyroid (RPKM 18.3), brain (RPKM 13.0) and 24 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See HSDL1 in Genome Data Viewer
Location:
16q24.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (84122141..84145177, complement)
105.20201022 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 membrane bound transcription factor peptidase, site 1 Neighboring gene polo like kinase 1 pseudogene Neighboring gene dynein axonemal assembly factor 1 Neighboring gene Sharpr-MPRA regulatory region 3417 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit C Neighboring gene adenosine deaminase domain containing 2

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
inactive hydroxysteroid dehydrogenase-like protein 1
Names
short chain dehydrogenase/reductase family 12C member 3
steroid dehydrogenase-like protein

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_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/Swiss-Prot
    Q3SXM5
    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
    Q3SXM5
    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: 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_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005256189.3XP_005256246.1  inactive hydroxysteroid dehydrogenase-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005256246.1

    UniProtKB/Swiss-Prot
    Q3SXM5
    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
Support Center