Sac3d1 MGI Mouse Gene Detail - MGI:1913656

Symbol

Sac3d1
Name

SAC3 domain containing 1
Synonyms

2410004C24Rik, Shd1

Feature Type

protein coding gene
IDs

MGI:1913656
NCBI Gene: 66406
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr19:6166030-6168680 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 4.34 cM
Mapping Data

2 experiments

SNPs within 2kb

3 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1913656	protein coding gene	Chr19:6166025-6168689 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024749	protein coding gene	Chr19:3146639-3149221 (-)
A/J	MGP_AJ_G0024715	protein coding gene	Chr19:2978641-2981223 (-)
AKR/J	MGP_AKRJ_G0024688	protein coding gene	Chr19:3066624-3069206 (-)
BALB/cJ	MGP_BALBcJ_G0024715	protein coding gene	Chr19:2970323-2972905 (-)
C3H/HeJ	MGP_C3HHeJ_G0024483	protein coding gene	Chr19:3085401-3087983 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025161	protein coding gene	Chr19:3207322-3209904 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022595	protein coding gene	Chr19:2903842-2906884 (-)
CAST/EiJ	MGP_CASTEiJ_G0023955	protein coding gene	Chr19:3097031-3099619 (-)
CBA/J	MGP_CBAJ_G0024455	protein coding gene	Chr19:3365250-3367832 (-)
DBA/2J	MGP_DBA2J_G0024582	protein coding gene	Chr19:2965562-2968144 (-)
FVB/NJ	MGP_FVBNJ_G0024548	protein coding gene	Chr19:2976336-2978918 (-)
LP/J	MGP_LPJ_G0024668	protein coding gene	Chr19:3123208-3125790 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024577	protein coding gene	Chr19:3184032-3186614 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025209	protein coding gene	Chr19:3096865-3099447 (-)
PWK/PhJ	MGP_PWKPhJ_G0023701	protein coding gene	Chr19:2994710-2997297 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023506	protein coding gene	Chr19:3054036-3056640 (-)
WSB/EiJ	MGP_WSBEiJ_G0024017	protein coding gene	Chr19:3104078-3106660 (-)

Human Ortholog

SAC3D1, SAC3 domain containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SAC3D1, SAC3 domain containing 1
Synonyms

HSU79266, SHD1
Links

HGNC:30179

NCBI Gene ID: 29901

UniProt: A6NKF1
Chr Location

11q13.1; chr11:65040901-65044828 (+) GRCh38

MGI Vertebrate Homology

Sac3d1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SAC3D1
Gene Tree

Sac3d1

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Phenotype Summary

8 phenotypes from 1 allele in 1 genetic background
7 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

16
Endonuclease-mediated

1
Gene trapped

11
Targeted

4
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice heterozygote for a null allele had increased numbers of myeloid and erythroid progenitor cells. Mice homozygote for a null allele had these features plus mild spleen and thymus hyperplasia, an increased T cell proliferative response, and enhanced IgM secretion by B cells to IL-5.

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All GO Annotations

16
GO References

4

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	non-membrane-bounded 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

718
Tissues

12
cDNA Data

8
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sac3d1

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All Sequences

40
RefSeq

4
UniProt

2
CCDS

CCDS37896.1

Ensembl

ENSMUSG00000024790 (Evidence)
NCBI Gene

66406

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024790	Ensembl Gene Model \| MGI Sequence Detail	2651	C57BL/6J	± kb
transcript	ENSMUST00000113533	Ensembl \| MGI Sequence Detail	1442	Not Applicable
polypeptide	ENSMUSP00000109161	Ensembl \| MGI Sequence Detail	427	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000014428 SAC3 domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR000717 Proteasome component (PCI) domain

IPR045107 SAC3/GANP/THP3

IPR005062 SAC3/GANP/THP3, conserved domain

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All nucleic 10

cDNA 10

Microarray probesets 6

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MGI:2147639

Summaries

All 29

Developmental Gene Expression 1

Gene Ontology 4

Phenotypes 7
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

TSS for Sac3d1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr157832	Chr19:6168521-6168584 (-)	127 bp
Tssr157831	Chr19:6168498-6168509 (-)	176 bp
Tssr157830	Chr19:6168264-6168298 (-)	399 bp
Tssr157829	Chr19:6168245-6168263 (-)	426 bp
Tssr157828	Chr19:6167873-6167890 (-)	798 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)
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