Abca6 MGI Mouse Gene Detail - MGI:1923434 - ATP-binding cassette, sub-family A member 6

Symbol

Abca6
Name

ATP-binding cassette, sub-family A member 6
Synonyms

6330565N06Rik

Feature Type

protein coding gene
IDs

MGI:1923434
NCBI Gene: 76184
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr11:110067646-110142602 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 73.37 cM
Mapping Data

4 experiments

SNPs within 2kb

2580 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923434	protein coding gene	Chr11:110065464-110142811 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019343	protein coding gene	Chr11:113791495-113863953 (-)
A/J	MGP_AJ_G0019311	protein coding gene	Chr11:108868237-108943171 (-)
AKR/J	MGP_AKRJ_G0019280	protein coding gene	Chr11:112126355-112197694 (-)
BALB/cJ	MGP_BALBcJ_G0019285	protein coding gene	Chr11:109290663-109369154 (-)
C3H/HeJ	MGP_C3HHeJ_G0019094	protein coding gene	Chr11:112419866-112498375 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019735	protein coding gene	Chr11:117209502-117289108 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017358	protein coding gene	Chr11:106053218-106127328 (-)
CAST/EiJ	MGP_CASTEiJ_G0018647	protein coding gene	Chr11:113579444-113655884 (-)
CBA/J	MGP_CBAJ_G0019063	protein coding gene	Chr11:122056372-122140394 (-)
DBA/2J	MGP_DBA2J_G0019175	protein coding gene	Chr11:108346756-108422057 (-)
FVB/NJ	MGP_FVBNJ_G0019166	protein coding gene	Chr11:107804046-107873408 (-)
LP/J	MGP_LPJ_G0019245	protein coding gene	Chr11:114192247-114270079 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019197	protein coding gene	Chr11:121187064-121280017 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019772	protein coding gene	Chr11:112700402-112779369 (-)
PWK/PhJ	MGP_PWKPhJ_G0018412	protein coding gene	Chr11:109503070-109579073 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018204	protein coding gene	Chr11:112494371-112574379 (-)
WSB/EiJ	MGP_WSBEiJ_G0018699	protein coding gene	Chr11:112622357-112706645 (-)

Human Ortholog

ABCA6, ATP binding cassette subfamily A member 6

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ABCA6, ATP binding cassette subfamily A member 6
Synonyms

EST155051
Links

HGNC:36

NCBI Gene ID: 23460

neXtProt AC: NX_Q8N139

UniProt: Q8N139
Chr Location

17q24.2-q24.3; chr17:69078702-69141895 (-) GRCh38

MGI Vertebrate Homology

Abca6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ABCA6
Gene Tree

Abca6

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Phenotype Summary

6 phenotypes from 2 alleles in 2 genetic backgrounds
8 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

1
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

92 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous p.C1366R mutation does not result in hypercholesteremia (independent of diet).

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All GO Annotations

14
GO References

6

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

800
Tissues

94
cDNA Data

12
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

47
RefSeq

12
UniProt

2
CCDS

CCDS25590.1

Ensembl

ENSMUSG00000044749 (Evidence)
NCBI Gene

76184

			Length	Strain/Species	Flank
genomic	ENSMUSG00000044749	Ensembl Gene Model \| MGI Sequence Detail	74957	C57BL/6J	± kb
transcript	ENSMUST00000044003	Ensembl \| MGI Sequence Detail	5240	Not Applicable
polypeptide	ENSMUSP00000035458	Ensembl \| MGI Sequence Detail	1624	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000003544 ATP-binding cassette sub-family A member 6

(term hierarchy)
EC

7.6.2.-
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR013525 ABC-2 type transporter, transmembrane domain

IPR026082 ABC transporter A

IPR003439 ABC transporter-like, ATP-binding domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

Q8K441 5 sites, 3 N-linked glycans (3 sites)

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All nucleic 14

cDNA 12

Primer pair 2

Microarray probesets 3

Summaries

All 35

Developmental Gene Expression 1

Gene Ontology 6

Phenotypes 8
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

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

TSS for Abca6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr111602	Chr11:110143236-110143249 (-)	-641 bp
Tssr111601	Chr11:110142562-110142580 (-)	31 bp
Tssr111600	Chr11:110142537-110142560 (-)	53 bp
Tssr111599	Chr11:110142519-110142530 (-)	77 bp
Tssr111598	Chr11:110142458-110142467 (-)	139 bp
Tssr111597	Chr11:110132484-110132491 (-)	10,114 bp
Tssr111596	Chr11:110081602-110081603 (-)	60,999 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