ABCD4 ATP binding cassette subfamily D member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCD4provided by HGNC
Official Full Name: ATP binding cassette subfamily D member 4provided by HGNC
Primary source: HGNC:HGNC:68
See related: Ensembl:ENSG00000119688 MIM:603214; AllianceGenome:HGNC:68
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P70R; P79R; ABC41; MAHCJ; PMP69; PXMP1L; EST352188
Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]
Expression: Ubiquitous expression in small intestine (RPKM 8.4), duodenum (RPKM 8.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (74285269..74302934, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (68493125..68510780, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (74751972..74769637, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
Title: Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
Cryo-EM structure of human lysosomal cobalamin exporter ABCD4.
Title: Cryo-EM structure of human lysosomal cobalamin exporter ABCD4.
Utilizing whole-exome sequencing, we found two novel MTR variants c.871C>T (p.Pro291Ser) and c.1771C>T (p.Arg591*) in Patient 1, and a ABCD4 homozygous variant c.423C>G (p.Asn141Lys) in Patient 2. Our study identified the first Cobalamin Gpatient and cobalamin J patient in mainland China, and highlighted comprehensive metabolic analyses and genetic tests in patients suspected of cobalamin defects
Title: Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.
endogenous ABCD4 was localized to both lysosomes and the ER, and its lysosomal localization was disturbed by knockout of LMBRD1
Title: Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.
Data suggest that ABCD4 lysosomal targeting depends on co-expression of and interaction with LMBRD1; mutations in LMBRD1 and ABCD4 that result in cobalamin metabolism disorders cblF and cblJ (or mutations in ATPase domain) disrupt interactions between LMBRD1 and ABCD4. (LMBRD1 = nuclear export signal-interacting protein; ABCD4 = ATP-binding cassette, sub-family D (ALD), member 4)
Title: Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1.
ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol.
Title: ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.
Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC.
Title: Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.
mutations altering the putative ATPase domain of ABCD4 affect its function, suggesting that the ATPase activity of ABCD4 may be involved in intracellular processing of vitamin B12.
Title: Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Defects in ABCB4 have been found to cause progressive familial intrahepatic cholestasis type 3.
Title: Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.
Observational study of gene-disease association. (HuGE Navigator)
Title: Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Disorders of Intracellular Cobalamin Metabolism MedGen: CN043592 GeneReviews: Disorders of Intracellular Cobalamin Metabolism	Compare labs
Methylmalonic acidemia with homocystinuria, type cblJ MedGen: C3553915 OMIM: 614857 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70410 (e-PCR)
- UniSTS:50196

RH44881 (e-PCR)
- UniSTS:35872

RH91782 (e-PCR)
- UniSTS:86070

G38080 (e-PCR)
- UniSTS:12601

A008S38 (e-PCR)
- UniSTS:55912

G20837 (e-PCR)
- UniSTS:11647

A006I12 (e-PCR)
- UniSTS:11648

HSC13B122 (e-PCR)
- UniSTS:1728

ABCD4 (e-PCR)
- UniSTS:509928

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type vitamin B12 transporter activity	EXP Inferred from Experiment more info	PubMed
enables ABC-type vitamin B12 transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ABC-type vitamin B12 transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	NAS Non-traceable Author Statement more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	NAS Non-traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables long-chain fatty acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in cobalamin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cobalamin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cobalamin transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cobalamin transport	TAS Traceable Author Statement more info
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-chain fatty acid import into peroxisome	IBA Inferred from Biological aspect of Ancestor more info
involved_in peroxisome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in very long-chain fatty acid catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of ATP-binding cassette (ABC) transporter complex	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
NOT located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: lysosomal cobalamin transporter ABCD4

Names: 69 kDa peroxisomal ABC-transporter; ATP-binding cassette sub-family D member 4; ATP-binding cassette, sub-family D (ALD), member 4; PMP70-related protein; PXMP1-L; peroxisomal membrane protein 69

NP_001340520.1

EC 7.6.2.8

NP_001340521.1

EC 7.6.2.8

NP_001340522.1

EC 7.6.2.8

NP_001340523.1

EC 7.6.2.8

NP_001340524.1

EC 7.6.2.8

NP_001340525.1

EC 7.6.2.8

NP_001340526.1

EC 7.6.2.8

NP_001340527.1

EC 7.6.2.8

NP_001340528.1

EC 7.6.2.8

NP_001340529.1

EC 7.6.2.8

NP_001340530.1

EC 7.6.2.8

NP_001340531.1

EC 7.6.2.8

NP_001340532.1

EC 7.6.2.8

NP_001340533.1

EC 7.6.2.8

NP_001340534.1

EC 7.6.2.8

NP_001340535.1

EC 7.6.2.8

NP_001340536.1

EC 7.6.2.8

NP_001340537.1

EC 7.6.2.8

NP_001340538.1

EC 7.6.2.8

NP_001340539.1

EC 7.6.2.8

NP_005041.1

EC 7.6.2.8

NP_064720.1

EC 7.6.2.8

NP_064730.1

EC 7.6.2.8

XP_005267999.1

EC 7.6.2.8

XP_011535343.1

EC 7.6.2.8

XP_016877020.1

EC 7.6.2.8

XP_024305445.1

EC 7.6.2.8

XP_047287593.1

EC 7.6.2.8

XP_047287595.1

EC 7.6.2.8

XP_047287596.1

EC 7.6.2.8

XP_054232484.1

EC 7.6.2.8

XP_054232485.1

EC 7.6.2.8

XP_054232486.1

EC 7.6.2.8

XP_054232487.1

EC 7.6.2.8

XP_054232488.1

EC 7.6.2.8

XP_054232489.1

EC 7.6.2.8

XP_054232490.1

EC 7.6.2.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032875.1 RefSeqGene

Range

5131..22796

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001353591.2 → NP_001340520.1 lysosomal cobalamin transporter ABCD4 isoform d

Status: REVIEWED

Source sequence(s)

AC005519

UniProtKB/TrEMBL

B7Z4V6

Conserved Domains (1) summary

cl26602
Location:9 → 558

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001353592.2 → NP_001340521.1 lysosomal cobalamin transporter ABCD4 isoform e

Status: REVIEWED

Source sequence(s)

AC005519

UniProtKB/TrEMBL

B7Z4V6

Conserved Domains (2) summary

cl00549
Location:16 → 252

ABC_membrane; ABC transporter transmembrane region

cl26602
Location:9 → 542

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001353593.2 → NP_001340522.1 lysosomal cobalamin transporter ABCD4 isoform f

Status: REVIEWED

Source sequence(s)

AC005519

UniProtKB/TrEMBL

B7Z4V6

Conserved Domains (1) summary

COG4178
Location:19 → 513

YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]
NM_001353594.2 → NP_001340523.1 lysosomal cobalamin transporter ABCD4 isoform g

Status: REVIEWED

Source sequence(s)

AC005519

UniProtKB/TrEMBL

B7Z4V6

Conserved Domains (1) summary

cl26602
Location:19 → 481

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001353595.2 → NP_001340524.1 lysosomal cobalamin transporter ABCD4 isoform h

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variant 11, encodes isoform h.

Source sequence(s)

AC005519

Conserved Domains (1) summary

cl26602
Location:52 → 462

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001353596.2 → NP_001340525.1 lysosomal cobalamin transporter ABCD4 isoform h

Status: REVIEWED

Description

Transcript Variant: This variant (11), as well as variant 10, encodes isoform h.

Source sequence(s)

AC005519

Conserved Domains (1) summary

cl26602
Location:52 → 462

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001353597.2 → NP_001340526.1 lysosomal cobalamin transporter ABCD4 isoform i

Status: REVIEWED

Source sequence(s)

AC005519

Conserved Domains (2) summary

cd03223
Location:232 → 443

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

cl26602
Location:52 → 445

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001353598.2 → NP_001340527.1 lysosomal cobalamin transporter ABCD4 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (13), as well as variant 3, encodes isoform c.

Source sequence(s)

AC005519

UniProtKB/TrEMBL

B7Z4V6

Conserved Domains (1) summary

cl26602
Location:31 → 441

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001353599.2 → NP_001340528.1 lysosomal cobalamin transporter ABCD4 isoform j

Status: REVIEWED

Description

Transcript Variant: This variant (14), as well as variants 15 and 16, encodes isoform j.

Source sequence(s)

AC005519

UniProtKB/TrEMBL

B7Z4V6

Conserved Domains (1) summary

cl26602
Location:31 → 426

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001353600.2 → NP_001340529.1 lysosomal cobalamin transporter ABCD4 isoform j

Status: REVIEWED

Description

Transcript Variant: This variant (15), as well as variants 14 and 16, encodes isoform j.

Source sequence(s)

AC005519

UniProtKB/TrEMBL

B7Z4V6

Conserved Domains (1) summary

cl26602
Location:31 → 426

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001353601.2 → NP_001340530.1 lysosomal cobalamin transporter ABCD4 isoform j

Status: REVIEWED

Description

Transcript Variant: This variant (16), as well as variants 14 and 15, encodes isoform j.

Source sequence(s)

AC005519

UniProtKB/TrEMBL

B7Z4V6

Conserved Domains (1) summary

cl26602
Location:31 → 426

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001353602.2 → NP_001340531.1 lysosomal cobalamin transporter ABCD4 isoform k

Status: REVIEWED

Description

Transcript Variant: This variant (17), as well as variants 18-20, encodes isoform k.

Source sequence(s)

AC005519

Conserved Domains (2) summary

cd03223
Location:124 → 335

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

COG1132
Location:1 → 321

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
NM_001353603.2 → NP_001340532.1 lysosomal cobalamin transporter ABCD4 isoform k

Status: REVIEWED

Description

Transcript Variant: This variant (18), as well as variants 17, 19, and 20, encodes isoform k.

Source sequence(s)

AC005519

Conserved Domains (2) summary

cd03223
Location:124 → 335

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

COG1132
Location:1 → 321

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
NM_001353604.2 → NP_001340533.1 lysosomal cobalamin transporter ABCD4 isoform k

Status: REVIEWED

Description

Transcript Variant: This variant (19), as well as variants 17, 18, and 20, encodes isoform k.

Source sequence(s)

AC005519

Conserved Domains (2) summary

cd03223
Location:124 → 335

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

COG1132
Location:1 → 321

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
NM_001353605.2 → NP_001340534.1 lysosomal cobalamin transporter ABCD4 isoform k

Status: REVIEWED

Description

Transcript Variant: This variant (20), as well as variants 17-19, encodes isoform k.

Source sequence(s)

AC005519

Conserved Domains (2) summary

cd03223
Location:124 → 335

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

COG1132
Location:1 → 321

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
NM_001353606.2 → NP_001340535.1 lysosomal cobalamin transporter ABCD4 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (21), as well as variants 22-24, encodes isoform l.

Source sequence(s)

AC005519

Conserved Domains (2) summary

cd03223
Location:124 → 321

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

COG1132
Location:1 → 321

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
NM_001353607.2 → NP_001340536.1 lysosomal cobalamin transporter ABCD4 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (22), as well as variants 21, 23, and 24, encodes isoform l.

Source sequence(s)

AC005519

Conserved Domains (2) summary

cd03223
Location:124 → 321

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

COG1132
Location:1 → 321

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
NM_001353608.2 → NP_001340537.1 lysosomal cobalamin transporter ABCD4 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (23), as well as variants 21, 22, and 24, encodes isoform l.

Source sequence(s)

AC005519

Conserved Domains (2) summary

cd03223
Location:124 → 321

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

COG1132
Location:1 → 321

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
NM_001353609.2 → NP_001340538.1 lysosomal cobalamin transporter ABCD4 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (24), as well as variants 21-23, encodes isoform l.

Source sequence(s)

AC005519

Conserved Domains (2) summary

cd03223
Location:124 → 321

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

COG1132
Location:1 → 321

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
NM_001353610.2 → NP_001340539.1 lysosomal cobalamin transporter ABCD4 isoform m

Status: REVIEWED

Source sequence(s)

AC005519

Conserved Domains (2) summary

cl25403
Location:124 → 218

ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain

cl26602
Location:1 → 239

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_005050.4 → NP_005041.1 lysosomal cobalamin transporter ABCD4 isoform a

See identical proteins and their annotated locations for NP_005041.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC005519, AF009746, BC012815, BF062605, BM667379, BQ893869, DA799558, DC332064

Consensus CDS

CCDS9828.1

UniProtKB/Swiss-Prot

A8K5L7, O14678, Q6IAQ0, Q96E75

Related

ENSP00000349396.4, ENST00000356924.9

Conserved Domains (3) summary

cd03223
Location:387 → 598

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

TIGR00954
Location:9 → 600

3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein

pfam06472
Location:16 → 294

ABC_membrane_2; ABC transporter transmembrane region 2
NM_020324.3 → NP_064720.1 lysosomal cobalamin transporter ABCD4 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3), as well as variant 13, encodes isoform c.

Source sequence(s)

AC005519

UniProtKB/TrEMBL

B7Z4V6

Conserved Domains (1) summary

cl26602
Location:31 → 441

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_020325.3 → NP_064730.1 lysosomal cobalamin transporter ABCD4 isoform b

Status: REVIEWED

Source sequence(s)

AC005519

UniProtKB/TrEMBL

B7Z4V6

Conserved Domains (2) summary

pfam06472
Location:16 → 294

ABC_membrane_2; ABC transporter transmembrane region 2

cl26602
Location:9 → 584

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

RNA

NR_003256.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1. This results in a frameshift and a transcript that is a candidate for nonsense-mediated mRNA decay (NMD). Therefore, this transcript is not thought to be protein-coding.

Source sequence(s)

AC005519, AK308382, BC012815, BF062605, BM667379, DA799558
NR_148466.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005519
NR_148467.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005519
NR_148468.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005519
NR_148469.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005519
NR_148470.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005519
NR_148471.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005519
NR_148472.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005519
NR_148473.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005519
NR_148474.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005519

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

74285269..74302934 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005267942.5 → XP_005267999.1 lysosomal cobalamin transporter ABCD4 isoform X5

See identical proteins and their annotated locations for XP_005267999.1

Conserved Domains (1) summary

cl26602
Location:52 → 462

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
XM_011537041.3 → XP_011535343.1 lysosomal cobalamin transporter ABCD4 isoform X3

Conserved Domains (3) summary

TIGR02673
Location:298 → 501

FtsE; cell division ATP-binding protein FtsE

cd03223
Location:296 → 507

ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D

cl00549
Location:85 → 203

ABC_membrane; ABC transporter transmembrane region
XM_024449677.2 → XP_024305445.1 lysosomal cobalamin transporter ABCD4 isoform X7

UniProtKB/TrEMBL

B7Z4V6

Conserved Domains (1) summary

cl26602
Location:31 → 441

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
XM_017021531.3 → XP_016877020.1 lysosomal cobalamin transporter ABCD4 isoform X1
XM_047431640.1 → XP_047287596.1 lysosomal cobalamin transporter ABCD4 isoform X6
XM_047431637.1 → XP_047287593.1 lysosomal cobalamin transporter ABCD4 isoform X2
XM_047431639.1 → XP_047287595.1 lysosomal cobalamin transporter ABCD4 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

68493125..68510780 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376513.1 → XP_054232488.1 lysosomal cobalamin transporter ABCD4 isoform X5
XM_054376511.1 → XP_054232486.1 lysosomal cobalamin transporter ABCD4 isoform X3
XM_054376515.1 → XP_054232490.1 lysosomal cobalamin transporter ABCD4 isoform X7
XM_054376509.1 → XP_054232484.1 lysosomal cobalamin transporter ABCD4 isoform X1
XM_054376514.1 → XP_054232489.1 lysosomal cobalamin transporter ABCD4 isoform X6
XM_054376510.1 → XP_054232485.1 lysosomal cobalamin transporter ABCD4 isoform X2
XM_054376512.1 → XP_054232487.1 lysosomal cobalamin transporter ABCD4 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_020326.2: Suppressed sequence

Description

NM_020326.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein. Also, the transcript is a nonsense-mediated mRNA decay (NMD) candidate.