Epb41l3 MGI Mouse Gene Detail - MGI:103008 - erythrocyte membrane protein band 4.1 like 3

Symbol

Epb41l3
Name

erythrocyte membrane protein band 4.1 like 3
Synonyms

4.1B, DAL1P, Epb4.1l3, NBL3

Feature Type

protein coding gene
IDs

MGI:103008
NCBI Gene: 13823
Alliance

gene page
Transcription Start Sites

17 TSS

Sequence Map

Chr17:69382678-69596984 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 40.15 cM
Mapping Data

2 experiments

SNPs within 2kb

7474 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_103008	protein coding gene	Chr17:69382642-69596986 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023996	protein coding gene	Chr17:71479795-71618690 (+)
A/J	MGP_AJ_G0023954	protein coding gene	Chr17:69329576-69463153 (+)
AKR/J	MGP_AKRJ_G0023923	protein coding gene	Chr17:70306375-70447915 (+)
BALB/cJ	MGP_BALBcJ_G0023955	protein coding gene	Chr17:69258439-69394438 (+)
C3H/HeJ	MGP_C3HHeJ_G0023719	protein coding gene	Chr17:71223679-71358810 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024401	protein coding gene	Chr17:74050506-74204377 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021847	protein coding gene	Chr17:65208160-65358420 (+)
CAST/EiJ	MGP_CASTEiJ_G0023201	protein coding gene	Chr17:71630352-71771623 (+)
CBA/J	MGP_CBAJ_G0023695	protein coding gene	Chr17:77150948-77301147 (+)
DBA/2J	MGP_DBA2J_G0023823	protein coding gene	Chr17:68010253-68158494 (+)
FVB/NJ	MGP_FVBNJ_G0023789	protein coding gene	Chr17:67501757-67642584 (+)
LP/J	MGP_LPJ_G0023905	protein coding gene	Chr17:72230648-72369964 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023817	protein coding gene	Chr17:77095869-77246620 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024445	protein coding gene	Chr17:70794208-70934420 (+)
PWK/PhJ	MGP_PWKPhJ_G0022947	protein coding gene	Chr17:67357758-67495030 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022758	protein coding gene	Chr17:67517072-67661252 (+)
WSB/EiJ	MGP_WSBEiJ_G0023267	protein coding gene	Chr17:71549503-71686017 (+)

Human Ortholog

EPB41L3, erythrocyte membrane protein band 4.1 like 3

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EPB41L3, erythrocyte membrane protein band 4.1 like 3
Synonyms

4.1B, DAL-1, DAL1
Links

HGNC:3380

NCBI Gene ID: 23136

neXtProt AC: NX_Q9Y2J2

UniProt: Q9Y2J2
Chr Location

18p11.31; chr18:5392381-5630700 (-) GRCh38

MGI Vertebrate Homology

Epb41l3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: EPB41L3
Protein SuperFamily

Membrane_skeletal_4_1
Gene Tree

Epb41l3

Diseases

1 with human EPB41L3 associations

				Human Disease	Mouse Models
				esophagus squamous cell carcinoma IDs esophagus squamous cell carcinoma DOID:3748 MESH:D000077277 NCI:C4024 UMLS_CUI:C0279626

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

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Phenotype Summary

17 phenotypes from 5 alleles in 4 genetic backgrounds
4 images
23 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

10
Endonuclease-mediated

1
Gene trapped

3
Targeted

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

46 strains or lines available

Mice homozygous for one knock-out allele display a normal phenotype. Mice homozygous for a different knock-out allele exhibit ataxia, gait abnormalities, clasping, hypermyelination, abnormal axon morphology, and decreased internode length.

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All GO Annotations

31
GO References

12

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

758
Tissues

37
cDNA Data

59
Literature Summary

10

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase epb41l3

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All Sequences

199
RefSeq

100
UniProt

19
CCDS

CCDS28952.1, CCDS89142.1

Ensembl

ENSMUSG00000024044 (Evidence)
NCBI Gene

13823

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024044	Ensembl Gene Model \| MGI Sequence Detail	214307	C57BL/6J	± kb
transcript	ENSMUST00000238898	Ensembl \| MGI Sequence Detail	4368	Not Applicable
polypeptide	ENSMUSP00000158929	Ensembl \| MGI Sequence Detail	1052	Not Applicable

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UniProt

19 Sequences
Protein Ontology

PR:000007110 band 4.1-like protein 3

(term hierarchy)
InterPro Domains

IPR008379 Band 4.1, C-terminal

IPR019749 Band 4.1 domain

IPR030691 Band 4.1-like protein 3, FERM domain, F1 sub-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
GlyGen

Q9WV92 8 sites, 1 O-linked glycan (8 sites)

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All nucleic 62

Genomic 1

cDNA 61

Microarray probesets 8

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MGD-MRK-23845

Summaries

All 71

Developmental Gene Expression 10

Gene Ontology 12

Phenotypes 23
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:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

TSS for Epb41l3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr145622	Chr17:69382667-69382686 (+)	-1 bp
Tssr145623	Chr17:69382694-69382740 (+)	39 bp
Tssr145624	Chr17:69434394-69434404 (+)	51,721 bp
Tssr145625	Chr17:69434409-69434440 (+)	51,747 bp
Tssr145626	Chr17:69434445-69434457 (+)	51,773 bp
Tssr145627	Chr17:69463501-69463509 (+)	80,827 bp
Tssr145628	Chr17:69463548-69463559 (+)	80,876 bp
Tssr145629	Chr17:69463595-69463602 (+)	80,921 bp
Tssr145630	Chr17:69463786-69463845 (+)	81,138 bp
Tssr145631	Chr17:69463848-69463855 (+)	81,174 bp
Tssr145632	Chr17:69466960-69466986 (+)	84,295 bp
Tssr145633	Chr17:69466992-69467009 (+)	84,323 bp
Tssr145634	Chr17:69569102-69569111 (+)	186,429 bp
Tssr145635	Chr17:69569184-69569263 (+)	186,546 bp
Tssr145636	Chr17:69569271-69569281 (+)	186,598 bp
Tssr145637	Chr17:69596665-69596683 (+)	213,996 bp
Tssr145638	Chr17:69596714-69596722 (+)	214,040 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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