ATP-binding cassette sub-family B member 9 precursor

Names and origin

Protein names

Recommended name:
    ATP-binding cassette sub-family B member 9
Alternative name(s):
    ATP-binding cassette transporter 9
      Short name=ABC transporter 9 protein
      Short name=hABCB9
    TAP-like protein
      Short name=TAPL

Gene names

Name:	ABCB9
Synonyms:	KIAA1520

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

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Protein attributes

Sequence length	766 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	May function as a peptide transporter.
Subunit structure	Homodimer or heterodimer Potential.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane proteinProbable. Lysosome membrane; Multi-pass membrane protein.
Tissue specificity	Highly expressed in testis, and at moderate levels in brain, spinal cord, and thyroid.
Sequence similarities	Belongs to the ABC transporter family. MHC peptide exporter (TC 3.A.1.209) subfamily. [View classification] Contains 1 ABC transmembrane type-1 domain. Contains 1 ABC transporter domain.

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Ontologies

Keywords
Biological process	Peptide transport Protein transport Transport
Cellular component	Endoplasmic reticulum Lysosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane
Ligand	ATP-binding Nucleotide-binding
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	spermatogenesis Ref.2 Traceable author statement. Source: ProtInc transport Ref.2 Non-traceable author statement. Source: UniProtKB
Cellular component	ATP-binding cassette (ABC) transporter complex Ref.2 Non-traceable author statement. Source: UniProtKB integral to membrane Ref.2 Non-traceable author statement. Source: UniProtKB
Molecular function	ATP binding Ref.2 Non-traceable author statement. Source: UniProtKB transporter activity Ref.2 Traceable author statement. Source: ProtInc
Complete GO annotation...

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Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NP78-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NP78-2) The sequence of this isoform differs from the canonical sequence as follows: 418-460: Missing.

Isoform 3 (identifier: Q9NP78-3) The sequence of this isoform differs from the canonical sequence as follows: 582-596: ISLVSQEPVLFARSI → VCARAWATLLRPFCI 597-766: Missing.
Notes: experimental confirmation available.

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Molecule processing

Signal peptide

1 – 23

23

Potential

Chain

24 – 766

743

ATP-binding cassette sub-family B member 9

Regions

Transmembrane

47 – 67

21

Potential

Transmembrane

84 – 104

21

Potential

Transmembrane

116 – 136

21

Potential

Transmembrane

185 – 205

21

Potential

Transmembrane

225 – 245

21

Potential

Transmembrane

319 – 339

21

Potential

Transmembrane

416 – 436

21

Potential

Domain

188 – 471

284

ABC transmembrane type-1

Domain

504 – 740

237

ABC transporter

Nucleotide binding

539 – 546

8

ATP Potential

Compositional bias

384 – 389

6

Poly-Glu

Amino acid modifications

Modified residue

530

1

Phosphoserine

Natural variations

Alternative sequence

418 – 460

43

Missing in isoform 2.

Alternative sequence

582 – 596

15

ISLVS…FARSI → VCARAWATLLRPFCI in isoform 3.

Alternative sequence

597 – 766

170

Missing in isoform 3.

Natural variant

121

1

V → M: dbSNP rs3803002.

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Sequences

Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: C83FA62C929EC792 Show »	FASTA	766	84,475
10 20 30 40 50 60 MRLWKAVVVT LAFMSVDICV TTAIYVFSHL DRSLLEDIRH FNIFDSVLDL WAACLYRSCL 70 80 90 100 110 120 LLGATIGVAK NSALGPRRLR ASWLVITLVC LFVGIYAMVK LLLFSEVRRP IRDPWFWALF 130 140 150 160 170 180 VWTYISLGAS FLLWWLLSTV RPGTQALEPG AATEAEGFPG SGRPPPEQAS GATLQKLLSY 190 200 210 220 230 240 TKPDVAFLVA ASFFLIVAAL GETFLPYYTG RAIDGIVIQK SMDQFSTAVV IVCLLAIGSS 250 260 270 280 290 300 FAAGIRGGIF TLIFARLNIR LRNCLFRSLV SQETSFFDEN RTGDLISRLT SDTTMVSDLV 310 320 330 340 350 360 SQNINVFLRN TVKVTGVVVF MFSLSWQLSL VTFMGFPIIM MVSNIYGKYY KRLSKEVQNA 370 380 390 400 410 420 LARASNTAEE TISAMKTVRS FANEEEEAEV YLRKLQQVYK LNRKEAAAYM YYVWGSGLTL 430 440 450 460 470 480 LVVQVSILYY GGHLVISGQM TSGNLIAFII YEFVLGDCME SVGSVYSGLM QGVGAAEKVF 490 500 510 520 530 540 EFIDRQPTMV HDGSLAPDHL EGRVDFENVT FTYRTRPHTQ VLQNVSFSLS PGKVTALVGP 550 560 570 580 590 600 SGSGKSSCVN ILENFYPLEG GRVLLDGKPI SAYDHKYLHR VISLVSQEPV LFARSITDNI 610 620 630 640 650 660 SYGLPTVPFE MVVEAAQKAN AHGFIMELQD GYSTETGEKG AQLSGGQKQR VAMARALVRN 670 680 690 700 710 720 PPVLILDEAT SALDAESEYL IQQAIHGNLQ KHTVLIIAHR LSTVEHAHLI VVLDKGRVVQ 730 740 750 760 QGTHQQLLAQ GGLYAKLVQR QMLGLQPAAD FTAGHNEPVA NGSHKA « Hide
Isoform 2 [UniParc]. Checksum: 8FEB1D7C16C59FBC Show »		723	79,771
10 20 30 40 50 60 MRLWKAVVVT LAFMSVDICV TTAIYVFSHL DRSLLEDIRH FNIFDSVLDL WAACLYRSCL 70 80 90 100 110 120 LLGATIGVAK NSALGPRRLR ASWLVITLVC LFVGIYAMVK LLLFSEVRRP IRDPWFWALF 130 140 150 160 170 180 VWTYISLGAS FLLWWLLSTV RPGTQALEPG AATEAEGFPG SGRPPPEQAS GATLQKLLSY 190 200 210 220 230 240 TKPDVAFLVA ASFFLIVAAL GETFLPYYTG RAIDGIVIQK SMDQFSTAVV IVCLLAIGSS 250 260 270 280 290 300 FAAGIRGGIF TLIFARLNIR LRNCLFRSLV SQETSFFDEN RTGDLISRLT SDTTMVSDLV 310 320 330 340 350 360 SQNINVFLRN TVKVTGVVVF MFSLSWQLSL VTFMGFPIIM MVSNIYGKYY KRLSKEVQNA 370 380 390 400 410 420 LARASNTAEE TISAMKTVRS FANEEEEAEV YLRKLQQVYK LNRKEAAAYM YYVWGSGSVG 430 440 450 460 470 480 SVYSGLMQGV GAAEKVFEFI DRQPTMVHDG SLAPDHLEGR VDFENVTFTY RTRPHTQVLQ 490 500 510 520 530 540 NVSFSLSPGK VTALVGPSGS GKSSCVNILE NFYPLEGGRV LLDGKPISAY DHKYLHRVIS 550 560 570 580 590 600 LVSQEPVLFA RSITDNISYG LPTVPFEMVV EAAQKANAHG FIMELQDGYS TETGEKGAQL 610 620 630 640 650 660 SGGQKQRVAM ARALVRNPPV LILDEATSAL DAESEYLIQQ AIHGNLQKHT VLIIAHRLST 670 680 690 700 710 720 VEHAHLIVVL DKGRVVQQGT HQQLLAQGGL YAKLVQRQML GLQPAADFTA GHNEPVANGS HKA « Hide
Isoform 3 [UniParc]. Checksum: 9A6E46B08EE34D37 Show »		596	66,238
10 20 30 40 50 60 MRLWKAVVVT LAFMSVDICV TTAIYVFSHL DRSLLEDIRH FNIFDSVLDL WAACLYRSCL 70 80 90 100 110 120 LLGATIGVAK NSALGPRRLR ASWLVITLVC LFVGIYAMVK LLLFSEVRRP IRDPWFWALF 130 140 150 160 170 180 VWTYISLGAS FLLWWLLSTV RPGTQALEPG AATEAEGFPG SGRPPPEQAS GATLQKLLSY 190 200 210 220 230 240 TKPDVAFLVA ASFFLIVAAL GETFLPYYTG RAIDGIVIQK SMDQFSTAVV IVCLLAIGSS 250 260 270 280 290 300 FAAGIRGGIF TLIFARLNIR LRNCLFRSLV SQETSFFDEN RTGDLISRLT SDTTMVSDLV 310 320 330 340 350 360 SQNINVFLRN TVKVTGVVVF MFSLSWQLSL VTFMGFPIIM MVSNIYGKYY KRLSKEVQNA 370 380 390 400 410 420 LARASNTAEE TISAMKTVRS FANEEEEAEV YLRKLQQVYK LNRKEAAAYM YYVWGSGLTL 430 440 450 460 470 480 LVVQVSILYY GGHLVISGQM TSGNLIAFII YEFVLGDCME SVGSVYSGLM QGVGAAEKVF 490 500 510 520 530 540 EFIDRQPTMV HDGSLAPDHL EGRVDFENVT FTYRTRPHTQ VLQNVSFSLS PGKVTALVGP 550 560 570 580 590 SGSGKSSCVN ILENFYPLEG GRVLLDGKPI SAYDHKYLHR VVCARAWATL LRPFCI « Hide

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A half-type ABC transporter TAPL is highly conserved between rodent and man, and the human gene is not responsive to interferon-gamma in contrast to TAP1 and TAP2." Kobayashi A., Kasano M., Maeda T., Hori S., Motojima K., Suzuki M., Fujiwara T., Takahashi E., Yabe T., Tanaka K., Kasahara M., Yamaguchi Y., Maeda M. J. Biochem. 128:711-718(2000) [PubMed: 11011155] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Embryonic kidney.
[2]	"Characterization of ABCB9, an ATP binding cassette protein associated with lysosomes." Zhang F., Zhang W., Liu L., Fisher C.L., Hui D., Childs S., Dorovini-Zis K., Ling V. J. Biol. Chem. 275:23287-23294(2000) [PubMed: 10748049] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), CHARACTERIZATION. Tissue: Lymphoblast.
[3]	"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] (ISOFORM 3). Tissue: Brain.
[4]	"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:143-150(2000) [PubMed: 10819331] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[5]	Ohara O., Nagase T., Kikuno R. Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[6]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-530, MASS SPECTROMETRY. Tissue: Epithelium.
[7]	"Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population." Saito S., Iida A., Sekine A., Miura Y., Ogawa C., Kawauchi S., Higuchi S., Nakamura Y. J. Hum. Genet. 47:38-50(2002) [PubMed: 11829140] [Abstract] Cited for: VARIANT MET-121.
+	Additional computationally mapped references.

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Cross-references

Sequence databases
	AB045381 mRNA. Translation: BAA97989.2. AF216494 mRNA. Translation: AAF89993.1. BC017348 mRNA. Translation: AAH17348.1. AB040953 mRNA. Translation: BAA96044.2. Different initiation.
RefSeq	NP_062570.1. NP_062571.1. NP_982269.1.
UniGene	Hs.511951
3D structure databases
HSSP	HSSP built from PDB template 1JJ7 based on UniProtKB Q03518.
ModBase	Search...
PTM databases
PhosphoSite	Q9NP78.
Genome annotation databases
Ensembl	ENSG00000150967. Homo sapiens. [Contig view]
GeneID	23457.
KEGG	hsa:23457.
Organism-specific databases
H-InvDB	HIX0011101.
HGNC	HGNC:50. ABCB9.
MIM	605453. gene.
PharmGKB	PA24391.
HUGE	Search...
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q9NP78.
Gene expression databases
ArrayExpress	Q9NP78.
CleanEx	HS_ABCB9.
GermOnline	ENSG00000150967. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase_core. IPR011527. ABC_TM_1. IPR001140. ABC_TM_transpt. IPR003439. ABC_transporter-like. [Graphical view]
Pfam	PF00664. ABC_membrane. 1 hit. PF00005. ABC_tran. 1 hit. [Graphical view]
ProDom	PD000006. ABC_transporter. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00382. AAA. 1 hit. [Graphical view]
PROSITE	PS50929. ABC_TM1F. 1 hit. PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 1 hit. [Graphical view]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

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Entry information

Entry name

ABCB9_HUMAN

Accession

Primary (citable) accession number: Q9NP78
Secondary accession number(s): Q96AB1, Q9P208

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 2, 2002
Last sequence update:	October 1, 2000
Last modified:	July 22, 2008
This is version 74 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

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Human chromosome 12: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Alternative products

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Sequences

References

Cross-references

Sequence databases

3D structure databases

PTM databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents