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Q9NSE7

- ABCCD_HUMAN

UniProt

Q9NSE7 - ABCCD_HUMAN

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Protein

Putative ATP-binding cassette sub-family C member 13

Gene

ABCC13

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. ATPase activity, coupled to transmembrane movement of substances Source: InterPro
  2. ATP binding Source: InterPro
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Putative ATP-binding cassette sub-family C member 13
Gene namesi
Name:ABCC13
Synonyms:C21orf73, PRED6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:16022. ABCC13.

Subcellular locationi

Membrane PROSITE-ProRule annotation; Multi-pass membrane protein PROSITE-ProRule annotation

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei118 – 13821HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei154 – 17421HelicalPROSITE-ProRule annotationAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 274274Putative ATP-binding cassette sub-family C member 13PRO_0000093475Add
BLAST

Proteomic databases

PaxDbiQ9NSE7.
PRIDEiQ9NSE7.

PTM databases

PhosphoSiteiQ9NSE7.

Expressioni

Tissue specificityi

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.3 Publications

Inductioni

Down-regulated by cell differentiation in certain leukemia cells.1 Publication

Gene expression databases

CleanExiHS_ABCC13.
GenevestigatoriQ9NSE7.

Structurei

3D structure databases

ProteinModelPortaliQ9NSE7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini118 – 274157ABC transmembrane type-1PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 ABC transmembrane type-1 domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1132.
InParanoidiQ9NSE7.
PhylomeDBiQ9NSE7.

Family and domain databases

InterProiIPR011527. ABC1_TM_dom.
IPR001140. ABC_transptr_TM_dom.
[Graphical view]
PfamiPF00664. ABC_membrane. 1 hit.
[Graphical view]
SUPFAMiSSF90123. SSF90123. 1 hit.
PROSITEiPS50929. ABC_TM1F. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Note: Experimental confirmation may be lacking for some isoforms.

Isoform 1 (identifier: Q9NSE7-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MLSSTQNAGG SYQRVRGALD TQKCSPEKSA SFFSKVTYSW FSRVITLGYK
60 70 80 90 100
RPLEREDLFE LKESDSFCTA CPIFEKQWRK EVLRNQERQK VKVSCYKEAH
110 120 130 140 150
IKKPSLLYAL WNTFKSILIQ VALFKVFADI LSFTSPLIMK QIIIFCEHSS
160 170 180 190 200
DFGWNGYGYA VALLVVVFLQ TLILQQYQRF NMLTSAKVKT AVNGLIYKKA
210 220 230 240 250
LLLSNVSRQK FSTGEIINLM SATHGLDSKP QSPLVCPFSN PNGRISPLAR
260 270
AGSSSVSRGG SPCVCYTNKC FSCN
Length:274
Mass (Da):30,831
Last modified:June 20, 2002 - v2
Checksum:i02BFDCFE0F6D623F
GO
Isoform 2 (identifier: Q9NSE7-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:325
Mass (Da):37,042
Checksum:iB29D83108B52FB61
GO
Isoform 3 (identifier: Q9NSE7-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:140
Mass (Da):16,263
Checksum:i380A5ACD4854A143
GO
Isoform 4 (identifier: Q9NSE7-4) [UniParc]FASTAAdd to Basket

Also known as: D

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

Show »
Length:169
Mass (Da):19,542
Checksum:i0A05B2E6D0E914EF
GO
Isoform 5 (identifier: Q9NSE7-5) [UniParc]FASTAAdd to Basket

Also known as: C

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

Show »
Length:245
Mass (Da):27,619
Checksum:iAE97FFB60A3CF605
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti228 – 2281S → N.
Corresponds to variant rs2822558 [ dbSNP | Ensembl ].
VAR_020247

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei10 – 4233GSYQR…YSWFS → RLIH in isoform 5. 1 PublicationVSP_012454Add
BLAST
Alternative sequencei140 – 16930KQIII…VVVFL → NYTRKVNYLMGLPCENQKIT SYSQASGRDS in isoform 4. 1 PublicationVSP_012455Add
BLAST
Alternative sequencei141 – 274134Missing in isoform 3. 1 PublicationVSP_000067Add
BLAST
Alternative sequencei170 – 274105Missing in isoform 4. 1 PublicationVSP_012456Add
BLAST
Alternative sequencei200 – 27475ALLLS…CFSCN → VSLATLCVYFLLDEGNILTA TKVFTSMSLFNILRIPLFEL PTVISAVVQTKISLGRLEDF LNTEELLPQSIETNYTGDHA IGFTDASFSWDKTGMPVLKE ALWLMFLSRPGFRIAFCKKT FSLAPS in isoform 2. 1 PublicationVSP_000066Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
PIRiJC7909.
UniGeneiHs.366575.

Genome annotation databases

UCSCiuc002yjq.3. human. [Q9NSE7-4]
uc002yjr.3. human. [Q9NSE7-1]
uc010gkx.3. human. [Q9NSE7-5]

Polymorphism databases

DMDMi21541961.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
PIRi JC7909.
UniGenei Hs.366575.

3D structure databases

ProteinModelPortali Q9NSE7.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q9NSE7.

Polymorphism databases

DMDMi 21541961.

Proteomic databases

PaxDbi Q9NSE7.
PRIDEi Q9NSE7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

UCSCi uc002yjq.3. human. [Q9NSE7-4 ]
uc002yjr.3. human. [Q9NSE7-1 ]
uc010gkx.3. human. [Q9NSE7-5 ]

Organism-specific databases

GeneCardsi GC21P015647.
HGNCi HGNC:16022. ABCC13.
MIMi 608835. gene.
neXtProti NX_Q9NSE7.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1132.
InParanoidi Q9NSE7.
PhylomeDBi Q9NSE7.

Miscellaneous databases

PROi Q9NSE7.
SOURCEi Search...

Gene expression databases

CleanExi HS_ABCC13.
Genevestigatori Q9NSE7.

Family and domain databases

InterProi IPR011527. ABC1_TM_dom.
IPR001140. ABC_transptr_TM_dom.
[Graphical view ]
Pfami PF00664. ABC_membrane. 1 hit.
[Graphical view ]
SUPFAMi SSF90123. SSF90123. 1 hit.
PROSITEi PS50929. ABC_TM1F. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).

Entry informationi

Entry nameiABCCD_HUMAN
AccessioniPrimary (citable) accession number: Q9NSE7
Secondary accession number(s): Q8N6A4, Q8N6A5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: June 20, 2002
Last modified: October 29, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3