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

    Gene ID: 5826, updated on 20-Dec-2019

    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
    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

    Genomic context

    See ABCD4 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (74285269..74303062, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74751980..74769767, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370564 Neighboring gene visual system homeobox 2 Neighboring gene SUB1 pseudogene 2 Neighboring gene vertebrae development associated Neighboring gene ribosomal protein S2 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity, coupled to transmembrane movement of substances NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ATPase activity, coupled to transmembrane movement of substances TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    cobalamin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cobalamin metabolic process TAS
    Traceable Author Statement
    more info
     
    transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    ATP-binding cassette (ABC) transporter complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    peroxisomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_032875.1 RefSeqGene

      Range
      5131..22796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001353591.2NP_001340520.1  ATP-binding cassette sub-family D member 4 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC005519
      Conserved Domains (1) summary
      cl26602
      Location:9558
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    2. NM_001353592.2NP_001340521.1  ATP-binding cassette sub-family D member 4 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC005519
      Conserved Domains (2) summary
      cl00549
      Location:16252
      ABC_membrane; ABC transporter transmembrane region
      cl26602
      Location:9542
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    3. NM_001353593.2NP_001340522.1  ATP-binding cassette sub-family D member 4 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC005519
      Conserved Domains (1) summary
      COG4178
      Location:19513
      YddA; ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]
    4. NM_001353594.2NP_001340523.1  ATP-binding cassette sub-family D member 4 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC005519
      Conserved Domains (1) summary
      cl26602
      Location:19481
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    5. NM_001353595.2NP_001340524.1  ATP-binding cassette sub-family D member 4 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:52462
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    6. NM_001353596.2NP_001340525.1  ATP-binding cassette sub-family D member 4 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:52462
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    7. NM_001353597.2NP_001340526.1  ATP-binding cassette sub-family D member 4 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC005519
      Conserved Domains (2) summary
      cd03223
      Location:232443
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      cl26602
      Location:52445
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    8. NM_001353598.2NP_001340527.1  ATP-binding cassette sub-family D member 4 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variant 3, encodes isoform c.
      Source sequence(s)
      AC005519
      Conserved Domains (1) summary
      cl26602
      Location:31441
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    9. NM_001353599.2NP_001340528.1  ATP-binding cassette sub-family D member 4 isoform j

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 15 and 16, encodes isoform j.
      Source sequence(s)
      AC005519
      Conserved Domains (1) summary
      cl26602
      Location:31426
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    10. NM_001353600.2NP_001340529.1  ATP-binding cassette sub-family D member 4 isoform j

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 14 and 16, encodes isoform j.
      Source sequence(s)
      AC005519
      Conserved Domains (1) summary
      cl26602
      Location:31426
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    11. NM_001353601.2NP_001340530.1  ATP-binding cassette sub-family D member 4 isoform j

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 14 and 15, encodes isoform j.
      Source sequence(s)
      AC005519
      Conserved Domains (1) summary
      cl26602
      Location:31426
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    12. NM_001353602.2NP_001340531.1  ATP-binding cassette sub-family D member 4 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:124335
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    13. NM_001353603.2NP_001340532.1  ATP-binding cassette sub-family D member 4 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:124335
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    14. NM_001353604.2NP_001340533.1  ATP-binding cassette sub-family D member 4 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:124335
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    15. NM_001353605.2NP_001340534.1  ATP-binding cassette sub-family D member 4 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:124335
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    16. NM_001353606.2NP_001340535.1  ATP-binding cassette sub-family D member 4 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:124321
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    17. NM_001353607.2NP_001340536.1  ATP-binding cassette sub-family D member 4 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:124321
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    18. NM_001353608.2NP_001340537.1  ATP-binding cassette sub-family D member 4 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:124321
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    19. NM_001353609.2NP_001340538.1  ATP-binding cassette sub-family D member 4 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:124321
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    20. NM_001353610.2NP_001340539.1  ATP-binding cassette sub-family D member 4 isoform m

      Status: REVIEWED

      Source sequence(s)
      AC005519
      Conserved Domains (2) summary
      cl25403
      Location:124218
      ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain
      cl26602
      Location:1239
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    21. NM_005050.4NP_005041.1  ATP-binding cassette sub-family D member 4 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
      O14678
      UniProtKB/TrEMBL
      A0A024R6B9
      Related
      ENSP00000349396.4, ENST00000356924.9
      Conserved Domains (3) summary
      cd03223
      Location:387598
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      TIGR00954
      Location:9600
      3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
      pfam06472
      Location:16294
      ABC_membrane_2; ABC transporter transmembrane region 2
    22. NM_020324.3NP_064720.1  ATP-binding cassette sub-family D member 4 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variant 13, encodes isoform c.
      Source sequence(s)
      AC005519
      Conserved Domains (1) summary
      cl26602
      Location:31441
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    23. NM_020325.3NP_064730.1  ATP-binding cassette sub-family D member 4 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC005519
      Conserved Domains (2) summary
      pfam06472
      Location:16294
      ABC_membrane_2; ABC transporter transmembrane region 2
      cl26602
      Location:9584
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    RNA

    1. 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
    2. NR_148466.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005519
    3. NR_148467.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005519
    4. NR_148468.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005519
    5. NR_148469.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005519
    6. NR_148470.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005519
    7. NR_148471.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005519
    8. NR_148472.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005519
    9. NR_148473.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005519
    10. NR_148474.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005519

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      74285269..74303062 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537041.2XP_011535343.1  ATP-binding cassette sub-family D member 4 isoform X2

      Conserved Domains (3) summary
      TIGR02673
      Location:298501
      FtsE; cell division ATP-binding protein FtsE
      cd03223
      Location:296507
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      cl00549
      Location:85203
      ABC_membrane; ABC transporter transmembrane region
    2. XM_024449675.1XP_024305443.1  ATP-binding cassette sub-family D member 4 isoform X3

      Conserved Domains (1) summary
      cl26602
      Location:19471
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    3. XM_005267940.3XP_005267997.1  ATP-binding cassette sub-family D member 4 isoform X4

      See identical proteins and their annotated locations for XP_005267997.1

      Conserved Domains (1) summary
      cl26602
      Location:52462
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    4. XM_017021531.2XP_016877020.1  ATP-binding cassette sub-family D member 4 isoform X1

    5. XM_017021540.2XP_016877029.1  ATP-binding cassette sub-family D member 4 isoform X7

      Conserved Domains (2) summary
      cd03223
      Location:124335
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    6. XM_024449676.1XP_024305444.1  ATP-binding cassette sub-family D member 4 isoform X5

      Conserved Domains (1) summary
      cl26602
      Location:31441
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    7. XM_017021541.2XP_016877030.1  ATP-binding cassette sub-family D member 4 isoform X7

      Conserved Domains (2) summary
      cd03223
      Location:124335
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    8. XM_005267942.4XP_005267999.1  ATP-binding cassette sub-family D member 4 isoform X4

      See identical proteins and their annotated locations for XP_005267999.1

      Conserved Domains (1) summary
      cl26602
      Location:52462
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    9. XM_017021542.1XP_016877031.1  ATP-binding cassette sub-family D member 4 isoform X7

      Conserved Domains (2) summary
      cd03223
      Location:124335
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    10. XM_024449679.1XP_024305447.1  ATP-binding cassette sub-family D member 4 isoform X7

      Conserved Domains (2) summary
      cd03223
      Location:124335
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    11. XM_024449677.1XP_024305445.1  ATP-binding cassette sub-family D member 4 isoform X5

      Conserved Domains (1) summary
      cl26602
      Location:31441
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    12. XM_017021539.1XP_016877028.1  ATP-binding cassette sub-family D member 4 isoform X7

      Conserved Domains (2) summary
      cd03223
      Location:124335
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    13. XM_017021534.1XP_016877023.1  ATP-binding cassette sub-family D member 4 isoform X6

    14. XM_024449678.1XP_024305446.1  ATP-binding cassette sub-family D member 4 isoform X7

      Conserved Domains (2) summary
      cd03223
      Location:124335
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      COG1132
      Location:1321
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

    RNA

    1. XR_001750482.1 RNA Sequence

    2. XR_001750484.1 RNA Sequence

    3. XR_245710.4 RNA Sequence

    4. XR_001750480.2 RNA Sequence

    5. XR_001750478.2 RNA Sequence

    6. XR_001750476.2 RNA Sequence

      Related
      ENST00000481935.5
    7. XR_943500.3 RNA Sequence

    8. XR_002957565.1 RNA Sequence

    9. XR_001750481.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. 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.
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