Epb41l1 MGI Mouse Gene Detail - MGI:103010 - erythrocyte membrane protein band 4.1 like 1

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Epb41l1 Gene Detail

Symbol

Epb41l1
Name

erythrocyte membrane protein band 4.1 like 1
Synonyms

4.1N, Epb4.1l1, mKIAA0338

Feature Type

protein coding gene
IDs

MGI:103010
NCBI Gene: 13821
Alliance

gene page
Transcription Start Sites

22 TSS

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Sequence Map

Chr2:156262829-156385134 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 77.39 cM
Mapping Data

2 experiments

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SNPs within 2kb

1313 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_103010	protein coding gene	Chr2:156255918-156385134 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026764	protein coding gene	Chr2:161314962-161446324 (+)
A/J	MGP_AJ_G0026730	protein coding gene	Chr2:154895543-155021800 (+)
AKR/J	MGP_AKRJ_G0026701	protein coding gene	Chr2:159394698-159525411 (+)
BALB/cJ	MGP_BALBcJ_G0026739	protein coding gene	Chr2:155188211-155315374 (+)
C3H/HeJ	MGP_C3HHeJ_G0026482	protein coding gene	Chr2:159744613-159868519 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027188	protein coding gene	Chr2:166030085-166159666 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024558	protein coding gene	Chr2:148365432-148488068 (+)
CAST/EiJ	MGP_CASTEiJ_G0025943	protein coding gene	Chr2:160077705-160211317 (+)
CBA/J	MGP_CBAJ_G0026459	protein coding gene	Chr2:172074944-172210568 (+)
DBA/2J	MGP_DBA2J_G0026596	protein coding gene	Chr2:154065187-154194300 (+)
FVB/NJ	MGP_FVBNJ_G0026563	protein coding gene	Chr2:152440505-152565104 (+)
LP/J	MGP_LPJ_G0026701	protein coding gene	Chr2:161437956-161566041 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026584	protein coding gene	Chr2:176000005-176127845 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027244	protein coding gene	Chr2:159264035-159391395 (+)
PWK/PhJ	MGP_PWKPhJ_G0025677	protein coding gene	Chr2:153567014-153692239 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025480	protein coding gene	Chr2:158204904-158334435 (+)
WSB/EiJ	MGP_WSBEiJ_G0026013	protein coding gene	Chr2:160152346-160281995 (+)

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Human Ortholog

EPB41L1, erythrocyte membrane protein band 4.1 like 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EPB41L1, erythrocyte membrane protein band 4.1 like 1
Synonyms

4.1N, MRD11
Links

HGNC:3378

NCBI Gene ID: 2036

neXtProt AC: NX_Q9H4G0

UniProt: Q9H4G0
Chr Location

20q11.23; chr20:36091414-36232799 (+) GRCh38

MGI Vertebrate Homology

Epb41l1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EPB41L1
Protein SuperFamily

Membrane_skeletal_4_1
Gene Tree

Epb41l1

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Diseases

1 with human EPB41L1 associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder 11 IDs autosomal dominant intellectual developmental disorder 11 DOID:0070041 OMIM:614257

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

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Phenotype Summary

10 phenotypes from 2 alleles in 2 genetic backgrounds
3 phenotypes from multigenic genotypes
15 phenotype references

Phenotype Overview

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

149
Endonuclease-mediated

2
Gene trapped

142
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

165 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit no obvious phenotypic abnormalities.

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All GO Annotations

13
GO References

8

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

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

1079
Tissues

78
cDNA Data

87
Literature Summary

8

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase epb41l1

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All Sequences

145
RefSeq

74
UniProt

9
CCDS

CCDS16966.1, CCDS71169.1, CCDS71170.1, CCDS89573.1

Ensembl

ENSMUSG00000027624 (Evidence)
NCBI Gene

13821

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000027624	Ensembl Gene Model \| MGI Sequence Detail	122306	C57BL/6J	± kb
	transcript	ENSMUST00000125153	Ensembl \| MGI Sequence Detail	8344	Not Applicable
	polypeptide	ENSMUSP00000121161	Ensembl \| MGI Sequence Detail	1556	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000007108 band 4.1-like protein 1

(term hierarchy)
InterPro Domains

IPR008379 Band 4.1, C-terminal

IPR019749 Band 4.1 domain

IPR000798 Ezrin/radixin/moesin-like

IPR014352 FERM/acyl-CoA-binding protein superfamily

IPR014847 FERM adjacent

IPR019748 FERM central domain

IPR019747 FERM conserved site

IPR018980 FERM, C-terminal PH-like domain

IPR000299 FERM domain

IPR018979 FERM, N-terminal

IPR035963 FERM superfamily, second domain

IPR011993 PH-like domain superfamily

IPR007477 SAB domain

IPR029071 Ubiquitin-like domain superfamily

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All nucleic 87

cDNA 87

Microarray probesets 8

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MGD-MRK-23847

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Summaries

All 54

Developmental Gene Expression 8

Gene Ontology 8

Phenotypes 15
Earliest

J:19489 Takeuchi K, et al., Structural diversity of band 4.1 superfamily members. J Cell Sci. 1994 Jul;107(Pt 7):1921-8
Latest

J:299049 Wang H, et al., Selective effects of protein 4.1N deficiency on neuroendocrine and reproductive systems. Sci Rep. 2020 Oct 12;10(1):16947

TSS for Epb41l1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr21156	Chr2:156262640-156262671 (+)	-173 bp
Tssr21157	Chr2:156262757-156262782 (+)	-59 bp
Tssr21158	Chr2:156262958-156262963 (+)	132 bp
Tssr21159	Chr2:156262972-156262985 (+)	150 bp
Tssr21160	Chr2:156262995-156262996 (+)	167 bp
Tssr21161	Chr2:156263003-156263034 (+)	190 bp
Tssr21162	Chr2:156263036-156263043 (+)	211 bp
Tssr21163	Chr2:156263049-156263063 (+)	227 bp
Tssr21164	Chr2:156263082-156263094 (+)	259 bp
Tssr21165	Chr2:156274878-156274907 (+)	12,064 bp
Tssr21166	Chr2:156274913-156274926 (+)	12,091 bp
Tssr21167	Chr2:156299162-156299163 (+)	36,334 bp
Tssr21168	Chr2:156317427-156317481 (+)	54,625 bp
Tssr21169	Chr2:156317608-156317613 (+)	54,782 bp
Tssr21170	Chr2:156317631-156317658 (+)	54,816 bp
Tssr21171	Chr2:156317723-156317754 (+)	54,910 bp
Tssr21172	Chr2:156317764-156317782 (+)	54,944 bp
Tssr717	Chr2:156317811-156317814 (+)	54,984 bp
Tssr21173	Chr2:156317836-156317854 (+)	55,016 bp
Tssr21174	Chr2:156371961-156371964 (+)	109,134 bp
Tssr21175	Chr2:156380687-156380689 (+)	117,859 bp
Tssr21176	Chr2:156382030-156382080 (+)	119,226 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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