Kansl1 MGI Mouse Gene Detail - MGI:1923969 - KAT8 regulatory NSL complex subunit 1

Symbol

Kansl1
Name

KAT8 regulatory NSL complex subunit 1
Synonyms

1700081L11Rik, mKIAA1267

Feature Type

protein coding gene
IDs

MGI:1923969
NCBI Gene: 76719
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr11:104224055-104359687 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 67.79 cM
Mapping Data

3 experiments

SNPs within 2kb

1805 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923969	protein coding gene	Chr11:104224055-104360584 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019275	protein coding gene	Chr11:107480878-107629001 (-)
A/J	MGP_AJ_G0019243	protein coding gene	Chr11:102907001-103048143 (-)
AKR/J	MGP_AKRJ_G0019212	protein coding gene	Chr11:106052660-106193695 (-)
BALB/cJ	MGP_BALBcJ_G0019217	protein coding gene	Chr11:103340950-103477757 (-)
C3H/HeJ	MGP_C3HHeJ_G0019026	protein coding gene	Chr11:106290424-106433602 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019667	protein coding gene	Chr11:110801385-110944900 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017292	protein coding gene	Chr11:100314418-100443619 (-)
CAST/EiJ	MGP_CASTEiJ_G0018580	protein coding gene	Chr11:107343619-107491726 (-)
CBA/J	MGP_CBAJ_G0018995	protein coding gene	Chr11:115403079-115550362 (-)
DBA/2J	MGP_DBA2J_G0019107	protein coding gene	Chr11:102398873-102533690 (-)
FVB/NJ	MGP_FVBNJ_G0019098	protein coding gene	Chr11:101937168-102073115 (-)
LP/J	MGP_LPJ_G0019176	protein coding gene	Chr11:107952696-108103079 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019128	protein coding gene	Chr11:114707165-114862829 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019704	protein coding gene	Chr11:106448950-106596935 (-)
PWK/PhJ	MGP_PWKPhJ_G0018344	protein coding gene	Chr11:103498728-103638761 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018135	protein coding gene	Chr11:106228594-106360071 (-)
WSB/EiJ	MGP_WSBEiJ_G0018629	protein coding gene	Chr11:106461252-106607895 (-)

Human Ortholog

KANSL1, KAT8 regulatory NSL complex subunit 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KANSL1, KAT8 regulatory NSL complex subunit 1
Synonyms

C17DELq21.31, CENP-36, DEL17Q21.31, hMSL1v1, KDVS, KIAA1267, MSL1v1, NSL1
Links

HGNC:24565

NCBI Gene ID: 284058

neXtProt AC: NX_Q7Z3B3

UniProt: Q7Z3B3
Chr Location

17q21.31; chr17:46029916-46225389 (-) GRCh38

MGI Vertebrate Homology

Kansl1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: KANSL1
Gene Tree

Kansl1

Diseases

1 with Kansl1 mouse models; 1 with human KANSL1 associations

Human Disease

Mouse Models

Koolen de Vries syndrome

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

11 phenotypes from 2 alleles in 3 genetic backgrounds
5 phenotypes from multigenic genotypes
15 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

112
Endonuclease-mediated

2
Gene trapped

104
Targeted

6
Genomic Mutations

1 involving Kansl1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

146 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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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.

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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

730
Tissues

1
cDNA Data

166
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase kansl1

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All Sequences

96
RefSeq

42
UniProt

4
CCDS

CCDS48953.1, CCDS88268.1

Ensembl

ENSMUSG00000018412 (Evidence)
NCBI Gene

76719

			Length	Strain/Species	Flank
genomic	ENSMUSG00000018412	Ensembl Gene Model \| MGI Sequence Detail	135633	C57BL/6J	± kb
transcript	ENSMUST00000106971	Ensembl \| MGI Sequence Detail	5222	Not Applicable
polypeptide	ENSMUSP00000102584	Ensembl \| MGI Sequence Detail	1099	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000031979 KAT8 regulatory NSL complex subunit 1

(term hierarchy)
InterPro Domains

IPR026180 KAT8 regulatory NSL complex subunit 1

IPR029332 PEHE domain
GlyGen

Q80TG1 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 169

Genomic 1

cDNA 168

Microarray probesets 6

Summaries

All 46

Developmental Gene Expression 2

Diseases 1

Gene Ontology 7

Phenotypes 15
Earliest

J:33331 Nishiguchi S, et al., A catalogue of genes in mouse embryonal carcinoma F9 cells identified with expressed sequence tags. J Biochem. 1996 Apr;119(4):749-67
Latest

J:347290 Guhathakurta S, et al., COX17 acetylation via MOF-KANSL complex promotes mitochondrial integrity and function. Nat Metab. 2023 Nov;5(11):1931-1952

TSS for Kansl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr111245	Chr11:104360258-104360293 (-)	-589 bp
Tssr111244	Chr11:104355634-104355640 (-)	4,050 bp
Tssr111243	Chr11:104334332-104334344 (-)	25,349 bp
Tssr111237	Chr11:104307854-104307878 (-)	51,821 bp
Tssr111236	Chr11:104294421-104294423 (-)	65,265 bp
Tssr111235	Chr11:104293683-104293688 (-)	66,001 bp
Tssr111234	Chr11:104268203-104268206 (-)	91,482 bp
Tssr111233	Chr11:104260843-104260848 (-)	98,841 bp
Tssr111232	Chr11:104258070-104258074 (-)	101,615 bp
Tssr111231	Chr11:104243210-104243213 (-)	116,475 bp
Tssr111230	Chr11:104232104-104232120 (-)	127,575 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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