Srd5a1 MGI Mouse Gene Detail - MGI:98400 - steroid 5 alpha-reductase 1

Symbol

Srd5a1
Name

steroid 5 alpha-reductase 1
Synonyms

0610031P22Rik, 4930435F02Rik, Srd5a-1

Feature Type

protein coding gene
IDs

MGI:98400
NCBI Gene: 78925
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr13:69721568-69759561 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 35.55 cM
Mapping Data

6 experiments

SNPs within 2kb

1049 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98400	protein coding gene	Chr13:69721568-69759611 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0020733	protein coding gene	Chr13:69848255-69888763 (-)
A/J	MGP_AJ_G0020689	protein coding gene	Chr13:67346981-67387338 (-)
AKR/J	MGP_AKRJ_G0020664	protein coding gene	Chr13:69573662-69609855 (-)
BALB/cJ	MGP_BALBcJ_G0020686	protein coding gene	Chr13:67883577-67920263 (-)
C3H/HeJ	MGP_C3HHeJ_G0020481	protein coding gene	Chr13:69236533-69276356 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0021123	protein coding gene	Chr13:72245391-72285768 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018691	protein coding gene	Chr13:64317866-64354083 (-)
CAST/EiJ	MGP_CASTEiJ_G0019998	protein coding gene	Chr13:68230148-68269892 (-)
CBA/J	MGP_CBAJ_G0020439	protein coding gene	Chr13:75025676-75062716 (-)
DBA/2J	MGP_DBA2J_G0020565	protein coding gene	Chr13:67251365-67289752 (-)
FVB/NJ	MGP_FVBNJ_G0020545	protein coding gene	Chr13:66254636-66293283 (-)
LP/J	MGP_LPJ_G0020637	protein coding gene	Chr13:70135222-70171320 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020573	protein coding gene	Chr13:73475084-73516453 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021162	protein coding gene	Chr13:68846160-68884821 (-)
PWK/PhJ	MGP_PWKPhJ_G0019752	protein coding gene	Chr13:65949322-65986845 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0019575	protein coding gene	Chr13:65343889-65381007 (-)
WSB/EiJ	MGP_WSBEiJ_G0020055	protein coding gene	Chr13:69338394-69377126 (-)

Human Ortholog

SRD5A1, steroid 5 alpha-reductase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SRD5A1, steroid 5 alpha-reductase 1
Synonyms

S5AR 1
Links

HGNC:11284

NCBI Gene ID: 6715

neXtProt AC: NX_P18405

UniProt: P18405
Chr Location

5p15.31; chr5:6633290-6676539 (+) GRCh38

MGI Vertebrate Homology

Srd5a1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SRD5A1
Protein SuperFamily

5_alpha-SR2
Gene Tree

Srd5a1

Diseases

2 with human SRD5A1 associations

				Human Disease	Mouse Models
				prostate cancer IDs prostate cancer DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 UMLS_CUI:C0033578 UMLS_CUI:C0376358
				prostatic hypertrophy IDs prostatic hypertrophy DOID:11132

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
5 phenotypes from multigenic genotypes
26 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

6
Chemically induced (other)

1
Gene trapped

2
Targeted

3
Genomic Mutations

1 involving Srd5a1
Incidental Mutations

APF
Find Mice (IMSR)

11 strains or lines available

Female mice homozygous for a targeted mutation exhibit parturiton defects and deliver small litters. Male homozygous mice appear healthy.

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All GO Annotations

25
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

835
Tissues

110
cDNA Data

11
Literature Summary

12

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase srd5a1

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All Sequences

48
RefSeq

6
UniProt

5
CCDS

CCDS26624.1

Ensembl

ENSMUSG00000021594 (Evidence)
NCBI Gene

78925

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021594	Ensembl Gene Model \| MGI Sequence Detail	37994	C57BL/6J	± kb
transcript	ENSMUST00000091514	Ensembl \| MGI Sequence Detail	2644	Not Applicable
polypeptide	ENSMUSP00000089097	Ensembl \| MGI Sequence Detail	255	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000015607 3-oxo-5-alpha-steroid 4-dehydrogenase 1

(term hierarchy)
EC

1.3.1.22
InterPro Domains

IPR016636 3-oxo-5-alpha-steroid 4-dehydrogenase

IPR001104 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal

IPR039357 3-oxo-5-alpha-steroid 4-dehydrogenase/very-long-chain enoyl-CoA reductase

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All nucleic 17

Genomic 1

cDNA 12

Primer pair 2

Other 2

Microarray probesets 8

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MGD-MRK-14560, MGD-MRK-14561, MGI:1915624, MGI:1926175

Summaries

All 68

Developmental Gene Expression 12

Gene Ontology 10

Phenotypes 26
Earliest

J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
Latest

J:340792 Whiley PAF, et al., Testis exposure to unopposed/elevated activin A in utero affects somatic and germ cells and alters steroid levels mimicking phthalate exposure. Front Endocrinol (Lausanne). 2023;14:1234712

TSS for Srd5a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr123142	Chr13:69759569-69759596 (-)	-22 bp
Tssr123141	Chr13:69759540-69759565 (-)	8 bp
Tssr123140	Chr13:69759468-69759481 (-)	86 bp
Tssr123139	Chr13:69759433-69759452 (-)	118 bp
Tssr123138	Chr13:69759410-69759431 (-)	140 bp
Tssr123137	Chr13:69759383-69759398 (-)	170 bp
Tssr123136	Chr13:69743114-69743125 (-)	16,441 bp
Tssr123135	Chr13:69743089-69743096 (-)	16,468 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24