Ehbp1l1 MGI Mouse Gene Detail - MGI:3612340 - EH domain binding protein 1-like 1

Symbol

Ehbp1l1
Name

EH domain binding protein 1-like 1
Synonyms

G430002G23Rik

Feature Type

protein coding gene
IDs

MGI:3612340
NCBI Gene: 114601
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr19:5757404-5776345 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

1 experiment

SNPs within 2kb

507 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3612340	protein coding gene	Chr19:5757397-5776504 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024724	protein coding gene	Chr19:2691785-2712167 (-)
A/J	MGP_AJ_G0024690	protein coding gene	Chr19:2546509-2566360 (-)
AKR/J	MGP_AKRJ_G0024663	protein coding gene	Chr19:2612948-2635048 (-)
BALB/cJ	MGP_BALBcJ_G0024690	protein coding gene	Chr19:2540904-2561469 (-)
C3H/HeJ	MGP_C3HHeJ_G0024458	protein coding gene	Chr19:2631195-2650118 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025137	protein coding gene	Chr19:2759429-2782596 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022567	protein coding gene	Chr19:2455471-2475729 (-)
CAST/EiJ	MGP_CASTEiJ_G0023930	protein coding gene	Chr19:2650587-2669910 (-)
CBA/J	MGP_CBAJ_G0024430	protein coding gene	Chr19:2884897-2910444 (-)
DBA/2J	MGP_DBA2J_G0024557	protein coding gene	Chr19:2542420-2561608 (-)
FVB/NJ	MGP_FVBNJ_G0024523	protein coding gene	Chr19:2539951-2558770 (-)
LP/J	MGP_LPJ_G0024643	protein coding gene	Chr19:2667735-2687192 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024553	protein coding gene	Chr19:2729479-2748371 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025185	protein coding gene	Chr19:2633177-2652120 (-)
PWK/PhJ	MGP_PWKPhJ_G0023676	protein coding gene	Chr19:2565100-2585259 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023481	protein coding gene	Chr19:2617486-2638171 (-)
WSB/EiJ	MGP_WSBEiJ_G0023992	protein coding gene	Chr19:2644243-2663196 (-)

Human Ortholog

EHBP1L1, EH domain binding protein 1 like 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EHBP1L1, EH domain binding protein 1 like 1
Links

HGNC:30682

NCBI Gene ID: 254102

neXtProt AC: NX_Q8N3D4

UniProt: Q8N3D4
Chr Location

11q13.1; chr11:65576046-65592650 (+) GRCh38

MGI Vertebrate Homology

Ehbp1l1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: EHBP1L1
Gene Tree

Ehbp1l1

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Phenotype Summary

35 phenotypes from 2 alleles in 2 genetic backgrounds
12 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

5
Endonuclease-mediated

2
Gene trapped

1
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

50 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous knockout leads to a reduction in the length and density of small intestinal microvilli, severe anemia, and neonatal lethality.

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All GO Annotations

9
GO References

2

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.

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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

845
Tissues

41
cDNA Data

71
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ehbp1l1

ZFIN ehbp1l1a

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All Sequences

82
RefSeq

27
UniProt

7
CCDS

CCDS50359.1, CCDS50360.1, CCDS89316.1, CCDS89317.1

Ensembl

ENSMUSG00000024937 (Evidence)
NCBI Gene

114601

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024937	Ensembl Gene Model \| MGI Sequence Detail	18942	C57BL/6J	± kb
transcript	ENSMUST00000049295	Ensembl \| MGI Sequence Detail	6404	Not Applicable
polypeptide	ENSMUSP00000037656	Ensembl \| MGI Sequence Detail	1718	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000029443 EH domain-binding protein 1-like protein 1

(term hierarchy)
InterPro Domains

IPR022735 bMERB domain

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR050540 F-actin Monooxygenase Mical

IPR019448 NT-type C2 domain
GlyGen

Q99MS7 1 site, 1 O-linked glycan (1 site)

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All nucleic 73

cDNA 71

Primer pair 2

Microarray probesets 4

Summaries

All 36

Developmental Gene Expression 5

Gene Ontology 2

Phenotypes 12
Earliest

J:75685 Chauhan BK, et al., Identification of genes downstream of Pax6 in the mouse lens using cDNA microarrays. J Biol Chem. 2002 Mar 29;277(13):11539-48
Latest

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

TSS for Ehbp1l1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr157634	Chr19:5776268-5776315 (-)	53 bp
Tssr157633	Chr19:5776242-5776255 (-)	96 bp
Tssr157632	Chr19:5771839-5771881 (-)	4,485 bp
Tssr157631	Chr19:5770723-5770753 (-)	5,607 bp
Tssr157630	Chr19:5770709-5770718 (-)	5,631 bp
Tssr157629	Chr19:5770325-5770339 (-)	6,013 bp
Tssr157628	Chr19:5769334-5769343 (-)	7,006 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