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Protein

Putative ATP-binding cassette sub-family C member 13

Gene

ABCC13

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

Functioni

GO - Molecular functioni

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-33729-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:16022. ABCC13.

Subcellular locationi

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei118 – 138HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei154 – 174HelicalPROSITE-ProRule annotationAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi150000.

Polymorphism and mutation databases

DMDMi21541961.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000934751 – 274Putative ATP-binding cassette sub-family C member 13Add BLAST274

Proteomic databases

PRIDEiQ9NSE7.

PTM databases

iPTMnetiQ9NSE7.
PhosphoSitePlusiQ9NSE7.

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.

Structurei

3D structure databases

ProteinModelPortaliQ9NSE7.
SMRiQ9NSE7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini118 – 274ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST157

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

InParanoidiQ9NSE7.
PhylomeDBiQ9NSE7.

Family and domain databases

InterProiIPR011527. ABC1_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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_020247228S → N.Corresponds to variant rs2822558dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01245410 – 42GSYQR…YSWFS → RLIH in isoform 5. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_012455140 – 169KQIII…VVVFL → NYTRKVNYLMGLPCENQKIT SYSQASGRDS in isoform 4. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_000067141 – 274Missing in isoform 3. 1 PublicationAdd BLAST134
Alternative sequenceiVSP_012456170 – 274Missing in isoform 4. 1 PublicationAdd BLAST105
Alternative sequenceiVSP_000066200 – 274ALLLS…CFSCN → VSLATLCVYFLLDEGNILTA TKVFTSMSLFNILRIPLFEL PTVISAVVQTKISLGRLEDF LNTEELLPQSIETNYTGDHA IGFTDASFSWDKTGMPVLKE ALWLMFLSRPGFRIAFCKKT FSLAPS in isoform 2. 1 PublicationAdd BLAST75

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.

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.
PIRiJC7909.
UniGeneiHs.366575.

3D structure databases

ProteinModelPortaliQ9NSE7.
SMRiQ9NSE7.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiQ9NSE7.
PhosphoSitePlusiQ9NSE7.

Polymorphism and mutation databases

DMDMi21541961.

Proteomic databases

PRIDEiQ9NSE7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Organism-specific databases

DisGeNETi150000.
GeneCardsiABCC13.
HGNCiHGNC:16022. ABCC13.
MIMi608835. gene.
neXtProtiNX_Q9NSE7.
GenAtlasiSearch...

Phylogenomic databases

InParanoidiQ9NSE7.
PhylomeDBiQ9NSE7.

Enzyme and pathway databases

BioCyciZFISH:G66-33729-MONOMER.

Miscellaneous databases

PROiQ9NSE7.
SOURCEiSearch...

Gene expression databases

CleanExiHS_ABCC13.

Family and domain databases

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

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: November 2, 2016
This is version 100 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

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.Curated

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.