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Q9NSE7 (ABCCD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Putative ATP-binding cassette sub-family C member 13
Gene names
Name:ABCC13
Synonyms:C21orf73, PRED6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length274 AA.
Sequence statusComplete.
Protein existenceEvidence 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

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 274274Putative ATP-binding cassette sub-family C member 13
PRO_0000093475

Regions

Transmembrane118 – 13821Helical; Potential
Transmembrane154 – 17421Helical; Potential
Domain118 – 274157ABC transmembrane type-1

Natural variations

Alternative sequence10 – 4233GSYQR…YSWFS → RLIH in isoform 5.
VSP_012454
Alternative sequence140 – 16930KQIII…VVVFL → NYTRKVNYLMGLPCENQKIT SYSQASGRDS in isoform 4.
VSP_012455
Alternative sequence141 – 274134Missing in isoform 3.
VSP_000067
Alternative sequence170 – 274105Missing in isoform 4.
VSP_012456
Alternative sequence200 – 27475ALLLS…CFSCN → VSLATLCVYFLLDEGNILTA TKVFTSMSLFNILRIPLFEL PTVISAVVQTKISLGRLEDF LNTEELLPQSIETNYTGDHA IGFTDASFSWDKTGMPVLKE ALWLMFLSRPGFRIAFCKKT FSLAPS in isoform 2.
VSP_000066
Natural variant2281S → N.
Corresponds to variant rs2822558 [ dbSNP | Ensembl ].
VAR_020247

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) [UniParc].

Last modified June 20, 2002. Version 2.
Checksum: 02BFDCFE0F6D623F

FASTA27430,831
        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 

« Hide

Isoform 2 [UniParc].

Checksum: B29D83108B52FB61
Show »

FASTA32537,042
Isoform 3 (B) [UniParc].

Checksum: 380A5ACD4854A143
Show »

FASTA14016,263
Isoform 4 (D) [UniParc].

Checksum: 0A05B2E6D0E914EF
Show »

FASTA16919,542
Isoform 5 (C) [UniParc].

Checksum: AE97FFB60A3CF605
Show »

FASTA24527,619

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRJC7909.
UniGeneHs.366575.

3D structure databases

ProteinModelPortalQ9NSE7.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ9NSE7.

Polymorphism databases

DMDM21541961.

Proteomic databases

PaxDbQ9NSE7.
PRIDEQ9NSE7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

UCSCuc002yjq.3. human. [Q9NSE7-4]
uc002yjr.3. human. [Q9NSE7-1]
uc010gkx.3. human. [Q9NSE7-5]

Organism-specific databases

GeneCardsGC21P015647.
HGNCHGNC:16022. ABCC13.
MIM608835. gene.
neXtProtNX_Q9NSE7.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1132.
PhylomeDBQ9NSE7.

Gene expression databases

CleanExHS_ABCC13.
GenevestigatorQ9NSE7.

Family and domain databases

InterProIPR011527. ABC1_TM_dom.
IPR001140. ABC_transptr_TM_dom.
[Graphical view]
PfamPF00664. ABC_membrane. 1 hit.
[Graphical view]
SUPFAMSSF90123. SSF90123. 1 hit.
PROSITEPS50929. ABC_TM1F. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

PROQ9NSE7.
SOURCESearch...

Entry information

Entry nameABCCD_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 89 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM