Sort1 MGI Mouse Gene Detail - MGI:1338015

Symbol

Sort1
Name

sortilin 1
Synonyms

2900053A11Rik, neurotensin receptor 3, Ntr3, Ntsr3, sortilin

Feature Type

protein coding gene
IDs

MGI:1338015
NCBI Gene: 20661
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr3:108191398-108268827 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 46.90 cM, cytoband F3
Mapping Data

3 experiments

SNPs within 2kb

1742 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1338015	protein coding gene	Chr3:108191272-108268835 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027773	protein coding gene	Chr3:109823914-109906580 (+)
A/J	MGP_AJ_G0027733	protein coding gene	Chr3:106340619-106419209 (+)
AKR/J	MGP_AKRJ_G0027698	protein coding gene	Chr3:108930368-109010663 (+)
BALB/cJ	MGP_BALBcJ_G0027745	protein coding gene	Chr3:106044836-106122308 (+)
C3H/HeJ	MGP_C3HHeJ_G0027475	protein coding gene	Chr3:109281093-109363335 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028189	protein coding gene	Chr3:113926560-114009187 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025527	protein coding gene	Chr3:102490338-102569786 (+)
CAST/EiJ	MGP_CASTEiJ_G0026931	protein coding gene	Chr3:108658346-108743979 (+)
CBA/J	MGP_CBAJ_G0027450	protein coding gene	Chr3:117803133-117883008 (+)
DBA/2J	MGP_DBA2J_G0027592	protein coding gene	Chr3:105525778-105603901 (+)
FVB/NJ	MGP_FVBNJ_G0027560	protein coding gene	Chr3:103410442-103490179 (+)
LP/J	MGP_LPJ_G0027699	protein coding gene	Chr3:111243128-111323223 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027590	protein coding gene	Chr3:123858407-123944307 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028244	protein coding gene	Chr3:108526585-108609659 (+)
PWK/PhJ	MGP_PWKPhJ_G0026657	protein coding gene	Chr3:105273288-105353078 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026477	protein coding gene	Chr3:106664496-106749283 (+)
WSB/EiJ	MGP_WSBEiJ_G0027011	protein coding gene	Chr3:109062099-109146811 (+)

Human Ortholog

SORT1, sortilin 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SORT1, sortilin 1
Synonyms

Gp95, LDLCQ6, NT3, NTR3
Links

HGNC:11186

NCBI Gene ID: 6272

neXtProt AC: NX_Q99523

UniProt: Q99523
Chr Location

1p21.3-p13.1; chr1:109309568-109397918 (-) GRCh38

MGI Vertebrate Homology

Sort1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SORT1
Gene Tree

Sort1

Diseases

1 with human SORT1 associations

				Human Disease	Mouse Models
				abdominal aortic aneurysm IDs abdominal aortic aneurysm DOID:7693 EFO:0004214 MESH:D017544 NCI:C27000 OMIM:100070 OMIM:609782 OMIM:611891 OMIM:614375 UMLS_CUI:C0162871

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

References

1 with disease annotations

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Phenotype Summary

7 phenotypes from 3 alleles in 3 genetic backgrounds
2 phenotypes from multigenic genotypes
51 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

18
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

1
Radiation induced

1
Targeted

11
Genomic Mutations

2 involving Sort1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

49 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhbit increased protection from age- and injury-related neuron lose.

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All GO Annotations

92
GO References

24

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

879
Tissues

139
cDNA Data

173
Literature Summary

14

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sort1

ZFIN sort1a, sort1b

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All Sequences

57
RefSeq

12
UniProt

1
CCDS

CCDS17756.1, CCDS80003.1

Ensembl

ENSMUSG00000068747 (Evidence)
NCBI Gene

20661

			Length	Strain/Species	Flank
genomic	ENSMUSG00000068747	Ensembl Gene Model \| MGI Sequence Detail	77430	C57BL/6J	± kb
transcript	ENSMUST00000135636	Ensembl \| MGI Sequence Detail	6836	Not Applicable
polypeptide	ENSMUSP00000123564	Ensembl \| MGI Sequence Detail	858	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000015412 sortilin

(term hierarchy)
PDB

5NMR, 5NMT, 5NNI, 5NNJ, 5ZNN
InterPro Domains

IPR031777 Sortilin, C-terminal

IPR031778 Sortilin, N-terminal

IPR006581 VPS10

IPR050310 VPS10-related sortilin family receptors

IPR015943 WD40/YVTN repeat-like-containing domain superfamily
GlyGen

Q6PHU5 7 sites, 9 N-linked glycans (4 sites)

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All nucleic 174

cDNA 173

Primer pair 1

Microarray probesets 7

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MGI:1920246, MGI:2139828

Summaries

All 127

Developmental Gene Expression 14

Diseases 1

Gene Ontology 24

Phenotypes 51
Earliest

J:45627 Morris NJ, et al., Sortilin is the major 110-kDa protein in GLUT4 vesicles from adipocytes. J Biol Chem. 1998 Feb 6;273(6):3582-7
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Sort1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr31239	Chr3:108191379-108191390 (+)	-13 bp
Tssr31240	Chr3:108191405-108191416 (+)	13 bp
Tssr31241	Chr3:108191419-108191458 (+)	41 bp
Tssr31242	Chr3:108220221-108220246 (+)	28,836 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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