Erlin1 MGI Mouse Gene Detail - MGI:2387613 - ER lipid raft associated 1

Symbol

Erlin1
Name

ER lipid raft associated 1
Synonyms

2810439N09Rik, Keo4, Spfh1

Feature Type

protein coding gene
IDs

MGI:2387613
NCBI Gene: 226144
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr19:44023383-44058224 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 36.70 cM
Mapping Data

3 experiments

SNPs within 2kb

940 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2387613	protein coding gene	Chr19:44023382-44058580 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025162	protein coding gene	Chr19:43486684-43521804 (-)
A/J	MGP_AJ_G0025139	protein coding gene	Chr19:41408443-41443447 (-)
AKR/J	MGP_AKRJ_G0025107	protein coding gene	Chr19:42719717-42754883 (-)
BALB/cJ	MGP_BALBcJ_G0025133	protein coding gene	Chr19:41453812-41488789 (-)
C3H/HeJ	MGP_C3HHeJ_G0024893	protein coding gene	Chr19:42892979-42929723 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025576	protein coding gene	Chr19:44549542-44586346 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022990	protein coding gene	Chr19:40699540-40735786 (-)
CAST/EiJ	MGP_CASTEiJ_G0024358	protein coding gene	Chr19:42605163-42640970 (-)
CBA/J	MGP_CBAJ_G0024873	protein coding gene	Chr19:46768444-46807605 (-)
DBA/2J	MGP_DBA2J_G0025005	protein coding gene	Chr19:41233385-41269425 (-)
FVB/NJ	MGP_FVBNJ_G0024966	protein coding gene	Chr19:40994699-41030182 (-)
LP/J	MGP_LPJ_G0025091	protein coding gene	Chr19:43443524-43480956 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024997	protein coding gene	Chr19:46285629-46322378 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025634	protein coding gene	Chr19:42805418-42844420 (-)
PWK/PhJ	MGP_PWKPhJ_G0024107	protein coding gene	Chr19:41134730-41170215 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023911	protein coding gene	Chr19:41520575-41556548 (-)
WSB/EiJ	MGP_WSBEiJ_G0024428	protein coding gene	Chr19:42947107-42983860 (-)

Human Ortholog

ERLIN1, ER lipid raft associated 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ERLIN1, ER lipid raft associated 1
Synonyms

C10orf69, Erlin-1, KE04, KEO4, SPFH1, SPG62
Links

HGNC:16947

NCBI Gene ID: 10613

neXtProt AC: NX_O75477

UniProt: O75477
Chr Location

10q24.31; chr10:100150094-100186033 (-) GRCh38

MGI Vertebrate Homology

Erlin1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ERLIN1
Gene Tree

Erlin1

Diseases

1 with human ERLIN1 associations

				Human Disease	Mouse Models
				hereditary spastic paraplegia 62 IDs hereditary spastic paraplegia 62 DOID:0110813 ICD10CM:G11.4 OMIM:615681 ORDO:401785

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

less

Phenotype Summary

13 phenotypes from 1 allele in 1 genetic background
10 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

27
Endonuclease-mediated

5
Gene trapped

22
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

less

All GO Annotations

20
GO References

7

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.

less

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

706
cDNA Data

15

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase erlin1

ZFIN erlin1

less

All Sequences

68
RefSeq

8
UniProt

5
CCDS

CCDS29842.2

Ensembl

ENSMUSG00000025198 (Evidence)
NCBI Gene

226144

			Length	Strain/Species	Flank
genomic	ENSMUSG00000025198	Ensembl Gene Model \| MGI Sequence Detail	34842	C57BL/6J	± kb
transcript	ENSMUST00000170801	Ensembl \| MGI Sequence Detail	3172	Not Applicable
polypeptide	ENSMUSP00000129684	Ensembl \| MGI Sequence Detail	348	Not Applicable

less

UniProt

5 Sequences
Protein Ontology

PR:000007180 erlin-1

(term hierarchy)
InterPro Domains

IPR001107 Band 7 domain

IPR036013 Band 7/SPFH domain superfamily

IPR033294 Erlin1/2
GlyGen

Q91X78 3 sites, 3 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

less

All nucleic 15

cDNA 15

Microarray probesets 7

less

MGI:1915460, MGI:2147792

Summaries

All 40

Gene Ontology 7

Phenotypes 10
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Erlin1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr159432	Chr19:44058175-44058226 (-)	23 bp
Tssr159431	Chr19:44058129-44058147 (-)	86 bp
Tssr159430	Chr19:44058085-44058114 (-)	124 bp
Tssr159429	Chr19:44057799-44057861 (-)	394 bp
Tssr5522	Chr19:44045648-44045659 (-)	12,570 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 11/12/2024 MGI 6.24