Diablo MGI Mouse Gene Detail - MGI:1913843 - diablo, IAP-binding mitochondrial protein

Symbol

Diablo
Name

diablo, IAP-binding mitochondrial protein
Synonyms

0610041G12Rik, 1700006L01Rik, Smac

Feature Type

protein coding gene
IDs

MGI:1913843
NCBI Gene: 66593
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr5:123647828-123662239 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 63.02 cM, cytoband F
Mapping Data

3 experiments

SNPs within 2kb

322 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1913843	protein coding gene	Chr5:123647828-123664825 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0030074	protein coding gene	Chr5:127250652-127264398 (-)
A/J	MGP_AJ_G0030039	protein coding gene	Chr5:121975595-121989341 (-)
AKR/J	MGP_AKRJ_G0029975	protein coding gene	Chr5:125915792-125929448 (-)
BALB/cJ	MGP_BALBcJ_G0030050	protein coding gene	Chr5:123308789-123322535 (-)
C3H/HeJ	MGP_C3HHeJ_G0029766	protein coding gene	Chr5:126522067-126537753 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0030503	protein coding gene	Chr5:132185195-132200384 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027728	protein coding gene	Chr5:116521159-116536470 (-)
CAST/EiJ	MGP_CASTEiJ_G0029176	protein coding gene	Chr5:125620617-125634221 (-)
CBA/J	MGP_CBAJ_G0029737	protein coding gene	Chr5:137381556-137395292 (-)
DBA/2J	MGP_DBA2J_G0029886	protein coding gene	Chr5:121991940-122007627 (-)
FVB/NJ	MGP_FVBNJ_G0029843	protein coding gene	Chr5:121021411-121035154 (-)
LP/J	MGP_LPJ_G0029976	protein coding gene	Chr5:127793894-127807640 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029874	protein coding gene	Chr5:141017708-141031444 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030544	protein coding gene	Chr5:125499775-125514342 (-)
PWK/PhJ	MGP_PWKPhJ_G0028890	protein coding gene	Chr5:120799573-120813398 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0028726	protein coding gene	Chr5:123178150-123194034 (-)
WSB/EiJ	MGP_WSBEiJ_G0029251	protein coding gene	Chr5:126172441-126186184 (-)

Human Ortholog

DIABLO, diablo IAP-binding mitochondrial protein

Vertebrate Orthologs

5

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DIABLO, diablo IAP-binding mitochondrial protein
Synonyms

DFNA64, SMAC
Links

HGNC:21528

NCBI Gene ID: 56616

neXtProt AC: NX_Q9NR28

UniProt: Q9NR28
Chr Location

12q24.31; chr12:122207662-122227456 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: DIABLO
Gene Tree

Diablo

Diseases

1 with human DIABLO associations

				Human Disease	Mouse Models
				autosomal dominant nonsyndromic deafness 64 IDs autosomal dominant nonsyndromic deafness 64 DOID:0110585 ICD10CM:H90.3 OMIM:614152

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

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
4 phenotypes from multigenic genotypes
19 phenotype references

All Mutations and Alleles

8
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Diablo
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

13 strains or lines available

Homozygotes are viable and fertile with no gross morphological or histological abnormalities. Normal induction of apoptosis in UV-irradiated or Fas-antibody treated cells was noted, and these mice also exhibit normal T and B cell proliferative responses.

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All GO Annotations

23
GO References

16

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

770
Tissues

21
cDNA Data

101
Literature Summary

8

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase diablo

ZFIN diabloa

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All Sequences

65
RefSeq

4
UniProt

7
CCDS

CCDS39270.1

Ensembl

ENSMUSG00000029433 (Evidence)
NCBI Gene

66593

			Length	Strain/Species	Flank
genomic	ENSMUSG00000029433	Ensembl Gene Model \| MGI Sequence Detail	14412	C57BL/6J	± kb
transcript	ENSMUST00000125652	Ensembl \| MGI Sequence Detail	3386	Not Applicable
polypeptide	ENSMUSP00000115045	Ensembl \| MGI Sequence Detail	237	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000003130 diablo IAP-binding mitochondrial protein

(term hierarchy)
InterPro Domains

IPR009062 Smac/DIABLO-like superfamily

IPR015142 Smac/DIABLO protein
GlyGen

Q9JIQ3 1 site, 1 O-linked glycan (1 site)

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All nucleic 103

cDNA 101

Primer pair 2

Microarray probesets 4

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MGI:1923950, MGI:2141076

Summaries

All 70

Developmental Gene Expression 8

Gene Ontology 16

Phenotypes 19
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:314103 Ulmke PA, et al., Molecular Profiling Reveals Involvement of ESCO2 in Intermediate Progenitor Cell Maintenance in the Developing Mouse Cortex. Stem Cell Reports. 2021 Apr 13;16(4):968-984

TSS for Diablo:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr53243	Chr5:123662187-123662230 (-)	30 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 12/10/2024 MGI 6.24