O14678 (ABCD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATP-binding cassette sub-family D member 4

Alternative name(s):
PMP70-related protein
Short name=P70R
Peroxisomal membrane protein 1-like
Short name=PXMP1-L
Peroxisomal membrane protein 69
Short name=PMP69

Gene names

Name:	ABCD4
Synonyms:	PXMP1L

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	606 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subunit structure	Homodimer or heterodimer Potential.
Subcellular location	Peroxisome membrane; Multi-pass membrane protein.
Tissue specificity	Ubiquitous.
Sequence similarities	Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. [View classification] Contains 1 ABC transmembrane type-1 domain. Contains 1 ABC transporter domain.

Ontologies

Keywords
Biological process	Transport
Cellular component	Membrane Peroxisome
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	ATP-binding cassette (ABC) transporter complex Traceable author statement. Source: ProtInc integral to membrane Traceable author statement. Source: ProtInc peroxisomal membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Traceable author statement. Source: ProtInc ATPase activity, coupled to transmembrane movement of substances Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 606	606	ATP-binding cassette sub-family D member 4		PRO_0000093312
Regions
	Transmembrane	43 – 63	21	Helical; Potential
	Transmembrane	76 – 96	21	Helical; Potential
	Transmembrane	190 – 210	21	Helical; Potential
	Transmembrane	279 – 299	21	Helical; Potential
	Transmembrane	314 – 334	21	Helical; Potential
	Domain	39 – 332	294	ABC transmembrane type-1
	Domain	389 – 603	215	ABC transporter
	Nucleotide binding	421 – 428	8	ATP Potential
Natural variations
	Natural variant	172	1	V → I. Corresponds to variant rs34992370 [ dbSNP | Ensembl ].		VAR_048134
	Natural variant	304	1	A → T. Ref.4 Ref.5 Ref.6 Ref.7 Corresponds to variant rs4148077 [ dbSNP | Ensembl ].		VAR_020778
	Natural variant	350	1	T → R. Corresponds to variant rs35073715 [ dbSNP | Ensembl ].		VAR_048135
	Natural variant	368	1	E → K. Ref.4 Ref.5 Ref.6 Ref.7 Corresponds to variant rs3742801 [ dbSNP | Ensembl ].		VAR_020222
Experimental info
	Sequence conflict	606	1	E → D in CAG33385. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	O14678 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 2D88DEFED0EA0777	FASTA	606	68,597
	10 20 30 40 50 60 MAVAGPAPGA GARPRLDLQF LQRFLQILKV LFPSWSSQNA LMFLTLLCLT LLEQFVIYQV 70 80 90 100 110 120 GLIPSQYYGV LGNKDLEGFK TLTFLAVMLI VLNSTLKSFD QFTCNLLYVS WRKDLTEHLH 130 140 150 160 170 180 RLYFRGRAYY TLNVLRDDID NPDQRISQDV ERFCRQLSSM ASKLIISPFT LVYYTYQCFQ 190 200 210 220 230 240 STGWLGPVSI FGYFILGTVV NKTLMGPIVM KLVHQEKLEG DFRFKHMQIR VNAEPAAFYR 250 260 270 280 290 300 AGHVEHMRTD RRLQRLLQTQ RELMSKELWL YIGINTFDYL GSILSYVVIA IPIFSGVYGD 310 320 330 340 350 360 LSPAELSTLV SKNAFVCIYL ISCFTQLIDL STTLSDVAGY THRIGQLRET LLDMSLKSQD 370 380 390 400 410 420 CEILGESEWG LDTPPGWPAA EPADTAFLLE RVSISAPSSD KPLIKDLSLK ISEGQSLLIT 430 440 450 460 470 480 GNTGTGKTSL LRVLGGLWTS TRGSVQMLTD FGPHGVLFLP QKPFFTDGTL REQVIYPLKE 490 500 510 520 530 540 VYPDSGSADD ERILRFLELA GLSNLVARTE GLDQQVDWNW YDVLSPGEMQ RLSFARLFYL 550 560 570 580 590 600 QPKYAVLDEA TSALTEEVES ELYRIGQQLG MTFISVGHRQ SLEKFHSLVL KLCGGGRWEL MRIKVE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Primary structure of human PMP69, a putative peroxisomal ABC-transporter." Holzinger A., Kammerer S., Roscher A.A. Biochem. Biophys. Res. Commun. 237:152-157(1997) [PubMed: 9266848] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter." Holzinger A., Roscher A.A., Landgraf P., Lichtner P., Kammerer S. FEBS Lett. 426:238-242(1998) [PubMed: 9599016] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]	"Identification of a fourth half ABC transporter in the human peroxisomal membrane." Shani N., Jimenez-Sanchez G., Steel G., Dean M., Valle D. Hum. Mol. Genet. 6:1925-1931(1997) [PubMed: 9302272] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS THR-304 AND LYS-368.
[5]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS THR-304 AND LYS-368.
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS THR-304 AND LYS-368. Tissue: Muscle.
[7]	"Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8." Iida A., Saito S., Sekine A., Mishima C., Kitamura Y., Kondo K., Harigae S., Osawa S., Nakamura Y. J. Hum. Genet. 47:285-310(2002) [PubMed: 12111378] [Abstract] Cited for: VARIANTS THR-304 AND LYS-368.

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y14318 , Y14319, Y14320, Y14321, Y14322, Y14323 Genomic DNA. Translation: CAA74699.1. AF009746 mRNA. Translation: AAB83967.1. BT007412 mRNA. Translation: AAP36080.1. CR457104 mRNA. Translation: CAG33385.1. BC012815 mRNA. Translation: AAH12815.1.
IPI	IPI00023165.
PIR	JC5604.
RefSeq	NP_005041.1. NM_005050.3.
UniGene	Hs.94395.
3D structure databases
ProteinModelPortal	O14678.
SMR	O14678. Positions 386-596.
ModBase	Search...
Protein-protein interaction databases
IntAct	O14678. 4 interactions.
STRING	O14678.
PTM databases
PhosphoSite	O14678.
Proteomic databases
PRIDE	O14678.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000356924; ENSP00000349396; ENSG00000119688.
GeneID	5826.
KEGG	hsa:5826.
UCSC	uc001xpr.1. human.
Organism-specific databases
CTD	5826.
GeneCards	GC14M074751.
H-InvDB	HIX0011808.
HGNC	HGNC:68. ABCD4.
HPA	HPA003396.
MIM	603214. gene.
neXtProt	NX_O14678.
PharmGKB	PA24403.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG06892.
GeneTree	ENSGT00390000003950.
HOGENOM	HBG555665.
HOVERGEN	HBG106060.
InParanoid	O14678.
OMA	GRWELSR.
OrthoDB	EOG46WZ81.
PhylomeDB	O14678.
Gene expression databases
ArrayExpress	O14678.
Bgee	O14678.
CleanEx	HS_ABCD4.
Genevestigator	O14678.
GermOnline	ENSG00000119688. Homo sapiens.
Family and domain databases
InterPro	IPR010509. ABC_Ald_N. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR017940. ABC_transporter_type1. IPR011527. ABC_transptrTM_dom_typ1. IPR003593. ATPase_AAA+_core. [Graphical view]
KO	K05678.
Pfam	PF06472. ABC_membrane_2. 1 hit. PF00005. ABC_tran. 1 hit. [Graphical view]
SMART	SM00382. AAA. 1 hit. [Graphical view]
SUPFAM	SSF90123. ABC_TM_1. 1 hit.
PROSITE	PS50929. ABC_TM1F. 1 hit. PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	22693.
SOURCE	Search...

Entry information

Entry name

ABCD4_HUMAN

Accession

Primary (citable) accession number: O14678
Secondary accession number(s): Q6IAQ0, Q96E75

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	January 1, 1998
Last modified:	January 25, 2012
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.