ABCD1 (ATP binding cassette subfamily D member 1)

Gene: ABCD1 (ATP binding cassette subfamily D member 1) Chlorocebus sabaeus

Analyze

Symbol:

ABCD1

Name:

ATP binding cassette subfamily D member 1

RGD ID:

18481560

Description:

ENCODES a protein that exhibits ABC-type fatty-acyl-CoA transporter activity (ortholog); ADP binding (ortholog); ATP binding (ortholog); INVOLVED IN fatty acid elongation (ortholog); fatty acid homeostasis (ortholog); long-chain fatty acid catabolic process (ortholog); PARTICIPATES IN adrenoleukodystrophy pathway; carnitine-acylcarnitine translocase deficiency; fatty acid beta degradation pathway; ASSOCIATED WITH Addison's disease (ortholog); adrenoleukodystrophy (ortholog); autistic disorder (ortholog); FOUND IN cytoplasm (ortholog); endoplasmic reticulum membrane (ortholog); lysosomal membrane (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

ATP-binding cassette sub-family D member 1

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

ChlSab1.1 - Green Monkey 1.1 Assembly

Position:

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	128,152,697 - 128,171,007 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666065	66,018,682 - 66,038,332 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Addison's disease (ISO)

adrenoleukodystrophy (ISO)

autistic disorder (ISO)

Barth syndrome (ISO)

cerebral creatine deficiency syndrome 1 (ISO)

COVID-19 (ISO)

deafness, dystonia, and cerebral hypomyelination (ISO)

dyskeratosis congenita (ISO)

Emery-Dreifuss muscular dystrophy (ISO)

encephalitis (ISO)

favism (ISO)

genetic disease (ISO)

immunodeficiency 33 (ISO)

intellectual disability (ISO)

Nervous System Malformations (ISO)

Neurologic Gait Disorders (ISO)

paraplegia (ISO)

periventricular nodular heterotopia (ISO)

peroxisome biogenesis disorder 2B (ISO)

severe congenital encephalopathy due to MECP2 mutation (ISO)

Splenomegaly (ISO)

syndromic X-linked intellectual disability Lubs type (ISO)

X-linked spondyloepimetaphyseal dysplasia (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

fatty acid beta-oxidation (IEA)

fatty acid elongation (ISO)

fatty acid homeostasis (ISO)

long-chain fatty acid catabolic process (ISO)

long-chain fatty acid import into peroxisome (IEA)

myelin maintenance (ISO)

negative regulation of cytokine production involved in inflammatory response (ISO)

negative regulation of reactive oxygen species biosynthetic process (ISO)

neuron projection maintenance (ISO)

peroxisome organization (IEA)

positive regulation of fatty acid beta-oxidation (ISO)

positive regulation of unsaturated fatty acid biosynthetic process (ISO)

regulation of cellular response to oxidative stress (ISO)

regulation of fatty acid beta-oxidation (ISO)

regulation of mitochondrial depolarization (ISO)

regulation of oxidative phosphorylation (ISO)

sterol homeostasis (ISO)

very long-chain fatty acid catabolic process (IEA)

very long-chain fatty acid metabolic process (ISO)

very long-chain fatty-acyl-CoA catabolic process (ISO)

Cellular Component

cytoplasm (ISO)

endoplasmic reticulum membrane (ISO)

lysosomal membrane (ISO)

membrane (IEA)

mitochondrial membrane (ISO)

perinuclear region of cytoplasm (ISO)

peroxisomal membrane (IEA,ISO)

peroxisome (IEA)

Molecular Function

ABC-type fatty-acyl-CoA transporter activity (ISO)

ABC-type transporter activity (IEA)

ADP binding (ISO)

ATP binding (IEA,ISO)

ATP hydrolysis activity (IEA)

ATPase-coupled transmembrane transporter activity (IEA)

enzyme binding (ISO)

fatty acyl-CoA hydrolase activity (ISO)

identical protein binding (ISO)

long-chain fatty acid transmembrane transporter activity (IEA)

protein binding (ISO)

protein heterodimerization activity (ISO)

protein homodimerization activity (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

adrenoleukodystrophy pathway (ISO)

carnitine-acylcarnitine translocase deficiency (ISO)

fatty acid beta degradation pathway (ISO)

phytanic acid degradation pathway (ISO)

Refsum disease pathway (ISO)

References

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

ABCD1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	128,152,697 - 128,171,007 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666065	66,018,682 - 66,038,332 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

ABCD1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	153,724,856 - 153,744,755 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	153,724,856 - 153,744,755 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	152,990,311 - 153,010,209 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	152,643,530 - 152,663,375 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	152,511,182 - 152,531,028	NCBI
Celera	X	153,224,004 - 153,243,898 (+)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	141,647,579 - 141,667,479 (+)	NCBI		HuRef
CHM1_1	X	152,864,732 - 152,884,627 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	151,998,519 - 152,018,419 (+)	NCBI		T2T-CHM13v2.0

Abcd1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	72,760,203 - 72,782,140 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	72,760,203 - 72,782,140 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	73,716,597 - 73,738,534 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	73,716,597 - 73,738,534 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	70,961,936 - 70,983,626 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	69,969,317 - 69,991,007 (+)	NCBI		MGSCv36	mm8
Celera	X	64,970,295 - 64,991,971 (+)	NCBI		Celera
Cytogenetic Map	X	A7.3	NCBI
cM Map	X	37.39	NCBI

Abcd1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	156,579,669 - 156,601,448 (+)	NCBI		GRCr8
mRatBN7.2	X	151,428,334 - 151,450,115 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	151,428,578 - 151,450,115 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	153,569,626 - 153,591,020 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	157,132,856 - 157,154,250 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	154,804,685 - 154,826,079 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	157,073,860 - 157,095,652 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	157,072,736 - 157,095,274 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	152,823,436 - 152,844,829 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	159,614,569 - 159,635,963 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	1	136,439,697 - 136,461,090 (-)	NCBI		Celera
Cytogenetic Map	X	q37	NCBI

Abcd1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955580	459,715 - 475,774 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955580	459,715 - 475,363 (+)	NCBI	ChiLan1.0	ChiLan1.0

ABCD1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	153,764,997 - 153,785,252 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	153,768,686 - 153,788,864 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	143,275,165 - 143,295,283 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	153,162,412 - 153,182,424 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	153,162,412 - 153,182,424 (+)	Ensembl	panpan1.1		panPan2

ABCD1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	121,545,690 - 121,564,117 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	121,545,586 - 121,563,186 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	106,875,063 - 106,895,708 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	124,687,215 - 124,707,872 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	124,687,201 - 124,705,644 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	120,456,646 - 120,477,290 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	122,971,670 - 122,992,305 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	122,733,767 - 122,754,413 (+)	NCBI		UU_Cfam_GSD_1.0

Abcd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	X	118,877,295 - 118,896,851 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936809	615,139 - 635,990 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936809	615,133 - 634,618 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ABCD1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	124,485,076 - 124,501,741 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	124,485,076 - 124,501,742 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	142,049,646 - 142,066,321 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Abcd1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624946	421,132 - 440,075 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624946	421,113 - 439,961 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_007993304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_037988797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_037988798	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JACDXN010000033	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

XM_037988797 ⟹ XP_037844725

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666065	66,018,682 - 66,038,332 (+)	NCBI

RefSeq Acc Id:

XM_037988798 ⟹ XP_037844726

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
Vero_WHO_p1.0	NW_023666065	66,018,682 - 66,038,324 (+)	NCBI

Protein Sequences


Protein RefSeqs	XP_037844725	(Get FASTA)	NCBI Sequence Viewer
	XP_037844726	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCSAP00000009669.1

RefSeq Acc Id:	XP_037844725 ⟸ XM_037988797
- Peptide Label:	isoform X1
- UniProtKB:	A0A0D9RM30 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_037844726 ⟸ XM_037988798
- Peptide Label:	isoform X2
- UniProtKB:	A0A0D9RM30 (UniProtKB/TrEMBL)

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCSAG00000013506	UniProtKB/TrEMBL
Ensembl Transcript	ENSCSAT00000011600.1	UniProtKB/TrEMBL
Gene3D-CATH	P-loop containing nucleotide triphosphate hydrolases	UniProtKB/TrEMBL
InterPro	AAA+_ATPase	UniProtKB/TrEMBL
	ABC1_TM_dom	UniProtKB/TrEMBL
	ABC1_TM_sf	UniProtKB/TrEMBL
	ABC_transporter-like_ATP-bd	UniProtKB/TrEMBL
	ABC_transporter-like_CS	UniProtKB/TrEMBL
	FA_transporter	UniProtKB/TrEMBL
	P-loop_NTPase	UniProtKB/TrEMBL
NCBI Gene	ABCD1	ENTREZGENE
PANTHER	ATP-BINDING CASSETTE SUB-FAMILY D MEMBER 1	UniProtKB/TrEMBL
	ATP-BINDING CASSETTE, SUB-FAMILY D MEMBER	UniProtKB/TrEMBL
Pfam	ABC_membrane_2	UniProtKB/TrEMBL
	ABC_tran	UniProtKB/TrEMBL
PROSITE	ABC_TM1F	UniProtKB/TrEMBL
	ABC_TRANSPORTER_1	UniProtKB/TrEMBL
	ABC_TRANSPORTER_2	UniProtKB/TrEMBL
SMART	AAA	UniProtKB/TrEMBL
Superfamily-SCOP	ABC transporter transmembrane region	UniProtKB/TrEMBL
	P-loop containing nucleoside triphosphate hydrolases	UniProtKB/TrEMBL
UniProt	A0A0D9RM30	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB