Reviewed, UniProtKB/Swiss-Prot Q9NSE7 (ABCCD_HUMAN)

Names and origin

Protein names

Recommended name:
    Putative ATP-binding cassette transporter sub-family C member 13

Gene names

Name:	ABCC13
Synonyms:	C21orf73, PRED6

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	274 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	Highest expression in fetal liver and fetal spleen. In the adult, highest levels are found in the colon ascending and transverse. Also expressed in brain, placenta, lung, liver, pancreas and ovary. In bone marrow cells, levels are several fold higher than in peripheral blood leukocytes. Ref.1 Ref.2 Ref.5
Induction	Down-regulated by cell differentiation in certain leukemia cells. Ref.1
Sequence similarities	Belongs to the binding-protein-dependent transport system permease family. Contains 1 ABC transmembrane type-1 domain.
Caution	Contains sequences related to the ABC transporters of subfamily C, but lacks Walker A, Walker B, and signature C motifs, indicating that it is a nonfunctional ABC transporter. Translation of the cDNA in a different reading frame predicts a 93 amino acid peptide with signature C and Walker B motifs, but no Walker A motif.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	transmembrane transport Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Non-traceable author statement. Source: UniProtKB
Molecular function	ATP binding Inferred from electronic annotation. Source: InterPro ATPase activity, coupled to transmembrane movement of substances Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Note: Experimental confirmation may be lacking for some isoforms.

Isoform 1 (identifier: Q9NSE7-1)

Also known as: A;

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: Q9NSE7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     200-274: ALLLSNVSRQ...CYTNKCFSCN → VSLATLCVYF...CKKTFSLAPS

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoform 3 (identifier: Q9NSE7-3)

Also known as: B;

The sequence of this isoform differs from the canonical sequence as follows:
     141-274: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoform 4 (identifier: Q9NSE7-4)

Also known as: D;

The sequence of this isoform differs from the canonical sequence as follows:
     140-169: KQIIIFCEHSSDFGWNGYGYAVALLVVVFL → NYTRKVNYLMGLPCENQKITSYSQASGRDS
     170-274: Missing.

Isoform 5 (identifier: Q9NSE7-5)

Also known as: C;

The sequence of this isoform differs from the canonical sequence as follows:
     10-42: GSYQRVRGALDTQKCSPEKSASFFSKVTYSWFS → RLIH

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 274	274	Putative ATP-binding cassette transporter sub-family C member 13		PRO_0000093475
Regions
	Transmembrane	118 – 138	21	Potential
	Transmembrane	154 – 174	21	Potential
	Domain	118 – 274	157	ABC transmembrane type-1
Natural variations
	Alternative sequence	10 – 42	33	GSYQR…YSWFS → RLIH in isoform 5.		VSP_012454
	Alternative sequence	140 – 169	30	KQIII…VVVFL → NYTRKVNYLMGLPCENQKIT SYSQASGRDS in isoform 4.		VSP_012455
	Alternative sequence	141 – 274	134	Missing in isoform 3.		VSP_000067
	Alternative sequence	170 – 274	105	Missing in isoform 4.		VSP_012456
	Alternative sequence	200 – 274	75	ALLLS…CFSCN → VSLATLCVYFLLDEGNILTA TKVFTSMSLFNILRIPLFEL PTVISAVVQTKISLGRLEDF LNTEELLPQSIETNYTGDHA IGFTDASFSWDKTGMPVLKE ALWLMFLSRPGFRIAFCKKT FSLAPS in isoform 2.		VSP_000066
	Natural variant	228	1	S → N: dbSNP rs2822558.		VAR_020247

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) [UniParc]. Last modified June 20, 2002. Version 2. Checksum: 02BFDCFE0F6D623F	FASTA	274	30,831
	10 20 30 40 50 60 MLSSTQNAGG SYQRVRGALD TQKCSPEKSA SFFSKVTYSW FSRVITLGYK RPLEREDLFE 70 80 90 100 110 120 LKESDSFCTA CPIFEKQWRK EVLRNQERQK VKVSCYKEAH IKKPSLLYAL WNTFKSILIQ 130 140 150 160 170 180 VALFKVFADI LSFTSPLIMK QIIIFCEHSS DFGWNGYGYA VALLVVVFLQ TLILQQYQRF 190 200 210 220 230 240 NMLTSAKVKT AVNGLIYKKA LLLSNVSRQK FSTGEIINLM SATHGLDSKP QSPLVCPFSN 250 260 270 PNGRISPLAR AGSSSVSRGG SPCVCYTNKC FSCN
	Isoform 2. Checksum: B29D83108B52FB61	FASTA	325	37,042
	10 20 30 40 50 60 MLSSTQNAGG SYQRVRGALD TQKCSPEKSA SFFSKVTYSW FSRVITLGYK RPLEREDLFE 70 80 90 100 110 120 LKESDSFCTA CPIFEKQWRK EVLRNQERQK VKVSCYKEAH IKKPSLLYAL WNTFKSILIQ 130 140 150 160 170 180 VALFKVFADI LSFTSPLIMK QIIIFCEHSS DFGWNGYGYA VALLVVVFLQ TLILQQYQRF 190 200 210 220 230 240 NMLTSAKVKT AVNGLIYKKV SLATLCVYFL LDEGNILTAT KVFTSMSLFN ILRIPLFELP 250 260 270 280 290 300 TVISAVVQTK ISLGRLEDFL NTEELLPQSI ETNYTGDHAI GFTDASFSWD KTGMPVLKEA 310 320 LWLMFLSRPG FRIAFCKKTF SLAPS
	Isoform 3 (B). Checksum: 380A5ACD4854A143	FASTA	140	16,263
	10 20 30 40 50 60 MLSSTQNAGG SYQRVRGALD TQKCSPEKSA SFFSKVTYSW FSRVITLGYK RPLEREDLFE 70 80 90 100 110 120 LKESDSFCTA CPIFEKQWRK EVLRNQERQK VKVSCYKEAH IKKPSLLYAL WNTFKSILIQ 130 140 VALFKVFADI LSFTSPLIMK
	Isoform 4 (D). Checksum: 0A05B2E6D0E914EF	FASTA	169	19,542
	10 20 30 40 50 60 MLSSTQNAGG SYQRVRGALD TQKCSPEKSA SFFSKVTYSW FSRVITLGYK RPLEREDLFE 70 80 90 100 110 120 LKESDSFCTA CPIFEKQWRK EVLRNQERQK VKVSCYKEAH IKKPSLLYAL WNTFKSILIQ 130 140 150 160 VALFKVFADI LSFTSPLIMN YTRKVNYLMG LPCENQKITS YSQASGRDS
	Isoform 5 (C). Checksum: AE97FFB60A3CF605	FASTA	245	27,619
	10 20 30 40 50 60 MLSSTQNAGR LIHRVITLGY KRPLEREDLF ELKESDSFCT ACPIFEKQWR KEVLRNQERQ 70 80 90 100 110 120 KVKVSCYKEA HIKKPSLLYA LWNTFKSILI QVALFKVFAD ILSFTSPLIM KQIIIFCEHS 130 140 150 160 170 180 SDFGWNGYGY AVALLVVVFL QTLILQQYQR FNMLTSAKVK TAVNGLIYKK ALLLSNVSRQ 190 200 210 220 230 240 KFSTGEIINL MSATHGLDSK PQSPLVCPFS NPNGRISPLA RAGSSSVSRG GSPCVCYTNK CFSCN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"ABCC13, an unusual truncated ABC transporter, is highly expressed in fetal human liver." Yabuuchi H., Takayanagi S., Yoshinaga K., Taniguchi N., Aburatani H., Ishikawa T. Biochem. Biophys. Res. Commun. 299:410-417(2002) [PubMed: 12445816] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), INDUCTION, TISSUE SPECIFICITY. Tissue: Liver and Placenta.
[2]	"Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages." Annilo T., Dean M. Genomics 84:34-46(2004) [PubMed: 15203202] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[3]	"Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms." Brun M.-E., Ruault M., Ventura M., Roizes G., De Sario A. Gene 312:41-50(2003) [PubMed: 12909339] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
[4]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L. Nature 405:311-319(2000) [PubMed: 10830953] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis." Gardiner K., Slavov D., Bechtel L., Davisson M. Genomics 79:833-843(2002) [PubMed: 12036298] [Abstract] Cited for: TISSUE SPECIFICITY.
[6]	"An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed: 14759258] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY063514 mRNA. Translation: AAL47201.1. AF418600 mRNA. Translation: AAL99903.1. AY063515 mRNA. Translation: AAL47202.1. AY344117 mRNA. Translation: AAQ22368.1. AF518320 mRNA. Translation: AAM70494.1. AF518321 mRNA. Translation: AAM70495.1. AP001660 Genomic DNA. Translation: BAA95546.1.
IPI	IPI00025740. IPI00172522. IPI00216009. IPI00216010. IPI00220831.
PIR	JC7909.
UniGene	Hs.366575
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q9NSE7.
Proteomic databases
PRIDE	Q9NSE7.
Genome annotation databases
Ensembl	ENST00000400572; ENSP00000383416; ENSG00000215557; Homo sapiens. [Genome view]
UCSC	uc002yjq.1. human. uc002yjr.1. human.
Organism-specific databases
GeneCards	GC21P014567.
HGNC	HGNC:16022. ABCC13.
MIM	608835. gene.
PharmGKB	PA134875904.
GenAtlas	Search...
Phylogenomic databases
OMA	FRIAFCK
OrthoDB	EOG9JT2S6
Gene expression databases
ArrayExpress	Q9NSE7.
Bgee	Q9NSE7.
CleanEx	HS_ABCC13.
Genevestigator	Q9NSE7.
GermOnline	ENSG00000155288. Homo sapiens.
Family and domain databases
InterPro	IPR011527. ABC_TM_1. IPR001140. ABC_TM_transpt. IPR017940. ABC_transporter_type1. [Graphical view]
Pfam	PF00664. ABC_membrane. 1 hit. [Graphical view]
PROSITE	PS50929. ABC_TM1F. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

ABCCD_HUMAN

Accession

Primary (citable) accession number: Q9NSE7
Secondary accession number(s): Q8N6A4, Q8N6A5

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 20, 2002
Last sequence update:	June 20, 2002
Last modified:	November 24, 2009
This is version 62 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.