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Q9UHI7

- S23A1_HUMAN

UniProt

Q9UHI7 - S23A1_HUMAN

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Protein

Solute carrier family 23 member 1

Gene

SLC23A1

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

Functioni

Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na+ for each ascorbate.

GO - Molecular functioni

  1. dehydroascorbic acid transporter activity Source: UniProtKB
  2. L-ascorbate:sodium symporter activity Source: UniProtKB
  3. L-ascorbic acid transporter activity Source: UniProtKB
  4. nucleobase transmembrane transporter activity Source: ProtInc
  5. sodium-dependent L-ascorbate transmembrane transporter activity Source: UniProtKB
  6. sodium ion transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  1. brain development Source: UniProtKB
  2. dehydroascorbic acid transport Source: UniProtKB
  3. L-ascorbic acid metabolic process Source: Reactome
  4. L-ascorbic acid transport Source: UniProtKB
  5. lung development Source: Ensembl
  6. nucleobase-containing compound metabolic process Source: ProtInc
  7. nucleobase transport Source: ProtInc
  8. response to toxic substance Source: UniProtKB
  9. small molecule metabolic process Source: Reactome
  10. sodium ion transmembrane transport Source: GOC
  11. sodium ion transport Source: UniProtKB
  12. transepithelial L-ascorbic acid transport Source: UniProtKB
  13. vitamin metabolic process Source: Reactome
  14. vitamin transmembrane transport Source: GOC
  15. water-soluble vitamin metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Ion transport, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_11202. Vitamin C (ascorbate) metabolism.

Protein family/group databases

TCDBi2.A.40.6.5. the nucleobase/ascorbate transporter (nat) or nucleobase:cation symporter-2 (ncs2) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 23 member 1
Alternative name(s):
Na(+)/L-ascorbic acid transporter 1
Sodium-dependent vitamin C transporter 1
Short name:
hSVCT1
Yolk sac permease-like molecule 3
Gene namesi
Name:SLC23A1
Synonyms:SVCT1, YSPL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:10974. SLC23A1.

Subcellular locationi

Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB
  2. basal plasma membrane Source: Ensembl
  3. brush border Source: Ensembl
  4. cytoplasm Source: UniProtKB
  5. extracellular vesicular exosome Source: UniProt
  6. integral component of plasma membrane Source: ProtInc
  7. intracellular organelle Source: UniProtKB
  8. membrane Source: ProtInc
  9. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35850.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 598598Solute carrier family 23 member 1PRO_0000165975Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi138 – 1381N-linked (GlcNAc...)1 Publication
Glycosylationi144 – 1441N-linked (GlcNAc...)1 Publication
Modified residuei596 – 5961PhosphothreonineBy similarity

Post-translational modificationi

Phosphorylated.Curated

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9UHI7.
PRIDEiQ9UHI7.

PTM databases

PhosphoSiteiQ9UHI7.

Expressioni

Tissue specificityi

Highly expressed in adult small intestine, kidney, thymus, ovary, colon, prostate and liver, and in fetal kidney, liver and thymus.

Gene expression databases

BgeeiQ9UHI7.
CleanExiHS_SLC23A1.
ExpressionAtlasiQ9UHI7. baseline and differential.
GenevestigatoriQ9UHI7.

Organism-specific databases

HPAiHPA047612.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK1P163332EBI-1759386,EBI-389883

Protein-protein interaction databases

IntActiQ9UHI7. 4 interactions.
STRINGi9606.ENSP00000302851.

Structurei

3D structure databases

ProteinModelPortaliQ9UHI7.
SMRiQ9UHI7. Positions 35-470.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5252CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini74 – 818ExtracellularSequence Analysis
Topological domaini103 – 1031CytoplasmicSequence Analysis
Topological domaini125 – 15935ExtracellularSequence AnalysisAdd
BLAST
Topological domaini181 – 20727CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini226 – 2294ExtracellularSequence Analysis
Topological domaini244 – 2507ExtracellularSequence Analysis
Topological domaini272 – 31241CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini334 – 35825ExtracellularSequence AnalysisAdd
BLAST
Topological domaini380 – 40223CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini424 – 4263ExtracellularSequence Analysis
Topological domaini448 – 45710CytoplasmicSequence Analysis
Topological domaini479 – 49012ExtracellularSequence AnalysisAdd
BLAST
Topological domaini512 – 59887CytoplasmicSequence AnalysisAdd
BLAST

Intramembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Intramembranei230 – 24314HelicalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei53 – 7321HelicalSequence AnalysisAdd
BLAST
Transmembranei82 – 10221HelicalSequence AnalysisAdd
BLAST
Transmembranei104 – 12421HelicalSequence AnalysisAdd
BLAST
Transmembranei160 – 18021HelicalSequence AnalysisAdd
BLAST
Transmembranei208 – 22518HelicalSequence AnalysisAdd
BLAST
Transmembranei251 – 27121HelicalSequence AnalysisAdd
BLAST
Transmembranei313 – 33321HelicalSequence AnalysisAdd
BLAST
Transmembranei359 – 37921HelicalSequence AnalysisAdd
BLAST
Transmembranei403 – 42321HelicalSequence AnalysisAdd
BLAST
Transmembranei427 – 44721HelicalSequence AnalysisAdd
BLAST
Transmembranei458 – 47821HelicalSequence AnalysisAdd
BLAST
Transmembranei491 – 51121HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG2233.
GeneTreeiENSGT00390000015686.
HOGENOMiHOG000038201.
HOVERGENiHBG056256.
InParanoidiQ9UHI7.
KOiK14611.
OMAiHANSDMS.
OrthoDBiEOG7R56RZ.
PhylomeDBiQ9UHI7.
TreeFamiTF313272.

Family and domain databases

InterProiIPR006043. Xant/urac/vitC.
[Graphical view]
PANTHERiPTHR11119. PTHR11119. 1 hit.
PfamiPF00860. Xan_ur_permease. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Note: Experimental confirmation may be lacking for some isoforms.

Isoform 1 (identifier: Q9UHI7-1) [UniParc]FASTAAdd to Basket

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
MRAQEDLEGR TQHETTRDPS TPLPTEPKFD MLYKIEDVPP WYLCILLGFQ
60 70 80 90 100
HYLTCFSGTI AVPFLLAEAL CVGHDQHMVS QLIGTIFTCV GITTLIQTTV
110 120 130 140 150
GIRLPLFQAS AFAFLVPAKA ILALERWKCP PEEEIYGNWS LPLNTSHIWH
160 170 180 190 200
PRIREVQGAI MVSSVVEVVI GLLGLPGALL NYIGPLTVTP TVSLIGLSVF
210 220 230 240 250
QAAGDRAGSH WGISACSILL IILFSQYLRN LTFLLPVYRW GKGLTLLRIQ
260 270 280 290 300
IFKMFPIMLA IMTVWLLCYV LTLTDVLPTD PKAYGFQART DARGDIMAIA
310 320 330 340 350
PWIRIPYPCQ WGLPTVTAAA VLGMFSATLA GIIESIGDYY ACARLAGAPP
360 370 380 390 400
PPVHAINRGI FTEGICCIIA GLLGTGNGST SSSPNIGVLG ITKVGSRRVV
410 420 430 440 450
QYGAAIMLVL GTIGKFTALF SSLPDPILGG MFCTLFGMIT AVGLSNLQFV
460 470 480 490 500
DMNSSRNLFV LGFSMFFGLT LPNYLESNPG AINTGILEVD QILIVLLTTE
510 520 530 540 550
MFVGGCLAFI LDNTVPGSPE ERGLIQWKAG AHANSDMSSS LKSYDFPIGM
560 570 580 590
GIVKRITFLK YIPICPVFKG FSSSSKDQIA IPEDTPENTE TASVCTKV
Length:598
Mass (Da):64,831
Last modified:May 18, 2010 - v3
Checksum:i1191B2B43CE76FD6
GO
Isoform 2 (identifier: Q9UHI7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     156-156: V → VGLHV

Note: Inactive.

Show »
Length:602
Mass (Da):65,238
Checksum:i0D03E3405E2E1EB3
GO
Isoform 3 (identifier: Q9UHI7-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     92-430: Missing.

Show »
Length:259
Mass (Da):28,531
Checksum:i1F422EEA2AE6A2C5
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti11 – 111T → A in AAF24759. (PubMed:10556483)Curated
Sequence conflicti52 – 576YLTCFS → IHDCLR in AAC78804. (PubMed:9804989)Curated
Sequence conflicti75 – 806DQHMVS → SQTLHC in AAC78804. (PubMed:9804989)Curated
Sequence conflicti139 – 1391W → S in AAC78804. (PubMed:9804989)Curated
Sequence conflicti153 – 1531I → N in AAC78804. (PubMed:9804989)Curated
Sequence conflicti155 – 1551E → D in AAF22490. (PubMed:10556483)Curated
Sequence conflicti182 – 1832YI → SL in AAC78804. (PubMed:9804989)Curated
Sequence conflicti207 – 2071A → P in AAC78804. (PubMed:9804989)Curated
Sequence conflicti269 – 2691Y → I in AAC78804. (PubMed:9804989)Curated
Sequence conflicti275 – 2751D → E in AAF22490. (PubMed:10556483)Curated
Sequence conflicti284 – 2841Y → I in AAC78804. (PubMed:9804989)Curated
Sequence conflicti434 – 4341T → S in AAC78804. (PubMed:9804989)Curated
Sequence conflicti451 – 4522DM → AL in AAC78804. (PubMed:9804989)Curated
Sequence conflicti476 – 4772ES → SP in AAF22490. (PubMed:10556483)Curated
Sequence conflicti548 – 5481I → F in AAC78804. (PubMed:9804989)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti218 – 2181I → V.
Corresponds to variant rs34521685 [ dbSNP | Ensembl ].
VAR_053451
Natural varianti258 – 2581M → V.
Corresponds to variant rs35817838 [ dbSNP | Ensembl ].
VAR_053452
Natural varianti264 – 2641V → M.
Corresponds to variant rs33972313 [ dbSNP | Ensembl ].
VAR_053453
Natural varianti421 – 4211S → A.7 Publications
Corresponds to variant rs6596474 [ dbSNP | Ensembl ].
VAR_062111

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei92 – 430339Missing in isoform 3. 1 PublicationVSP_006813Add
BLAST
Alternative sequencei156 – 1561V → VGLHV in isoform 2. 2 PublicationsVSP_006814

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF058317 mRNA. Translation: AAC78804.1.
AF170911 mRNA. Translation: AAF24759.1.
AJ269477 mRNA. Translation: CAB58119.1.
AF098277 mRNA. Translation: AAF22490.1.
AF375875 Genomic DNA. Translation: AAK97398.1.
AJ250807 mRNA. Translation: CAC15384.1.
AC135457 Genomic DNA. No translation available.
BC019225 mRNA. Translation: AAH19225.1.
BC050261 mRNA. Translation: AAH50261.1.
CCDSiCCDS4212.1. [Q9UHI7-1]
CCDS4213.1. [Q9UHI7-2]
PIRiJC7182.
RefSeqiNP_005838.3. NM_005847.4.
NP_689898.2. NM_152685.3.
UniGeneiHs.643467.

Genome annotation databases

EnsembliENST00000348729; ENSP00000302701; ENSG00000170482.
ENST00000353963; ENSP00000302851; ENSG00000170482.
GeneIDi9963.
KEGGihsa:9963.
UCSCiuc003leh.3. human. [Q9UHI7-1]

Polymorphism databases

DMDMi296452969.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF058317 mRNA. Translation: AAC78804.1 .
AF170911 mRNA. Translation: AAF24759.1 .
AJ269477 mRNA. Translation: CAB58119.1 .
AF098277 mRNA. Translation: AAF22490.1 .
AF375875 Genomic DNA. Translation: AAK97398.1 .
AJ250807 mRNA. Translation: CAC15384.1 .
AC135457 Genomic DNA. No translation available.
BC019225 mRNA. Translation: AAH19225.1 .
BC050261 mRNA. Translation: AAH50261.1 .
CCDSi CCDS4212.1. [Q9UHI7-1 ]
CCDS4213.1. [Q9UHI7-2 ]
PIRi JC7182.
RefSeqi NP_005838.3. NM_005847.4.
NP_689898.2. NM_152685.3.
UniGenei Hs.643467.

3D structure databases

ProteinModelPortali Q9UHI7.
SMRi Q9UHI7. Positions 35-470.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q9UHI7. 4 interactions.
STRINGi 9606.ENSP00000302851.

Chemistry

DrugBanki DB00126. Vitamin C.
GuidetoPHARMACOLOGYi 1041.

Protein family/group databases

TCDBi 2.A.40.6.5. the nucleobase/ascorbate transporter (nat) or nucleobase:cation symporter-2 (ncs2) family.

PTM databases

PhosphoSitei Q9UHI7.

Polymorphism databases

DMDMi 296452969.

Proteomic databases

PaxDbi Q9UHI7.
PRIDEi Q9UHI7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000348729 ; ENSP00000302701 ; ENSG00000170482 .
ENST00000353963 ; ENSP00000302851 ; ENSG00000170482 .
GeneIDi 9963.
KEGGi hsa:9963.
UCSCi uc003leh.3. human. [Q9UHI7-1 ]

Organism-specific databases

CTDi 9963.
GeneCardsi GC05M138702.
HGNCi HGNC:10974. SLC23A1.
HPAi HPA047612.
MIMi 603790. gene.
neXtProti NX_Q9UHI7.
PharmGKBi PA35850.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2233.
GeneTreei ENSGT00390000015686.
HOGENOMi HOG000038201.
HOVERGENi HBG056256.
InParanoidi Q9UHI7.
KOi K14611.
OMAi HANSDMS.
OrthoDBi EOG7R56RZ.
PhylomeDBi Q9UHI7.
TreeFami TF313272.

Enzyme and pathway databases

Reactomei REACT_11202. Vitamin C (ascorbate) metabolism.

Miscellaneous databases

GeneWikii SLC23A1.
GenomeRNAii 9963.
NextBioi 37598.
PROi Q9UHI7.
SOURCEi Search...

Gene expression databases

Bgeei Q9UHI7.
CleanExi HS_SLC23A1.
ExpressionAtlasi Q9UHI7. baseline and differential.
Genevestigatori Q9UHI7.

Family and domain databases

InterProi IPR006043. Xant/urac/vitC.
[Graphical view ]
PANTHERi PTHR11119. PTHR11119. 1 hit.
Pfami PF00860. Xan_ur_permease. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular characterization of two novel transporters from human and mouse kidney and from LLC-PK1 cells reveals a novel conserved family that is homologous to bacterial and Aspergillus nucleobase transporters."
    Faaland C.A., Race J.E., Ricken G., Warner F.J., Williams W.J., Holtzman E.J.
    Biochim. Biophys. Acta 1442:353-360(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-421.
    Tissue: Fetal liver and Kidney.
  2. "Human Na(+)-dependent vitamin C transporter 1 (hSVCT1): primary structure, functional characteristics and evidence for a non-functional splice variant."
    Wang H., Dutta B., Huang W., Devoe L.D., Leibach F.H., Ganapathy V., Prasad P.D.
    Biochim. Biophys. Acta 1461:1-9(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT ALA-421.
    Tissue: Intestinal epithelium.
  3. "Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2."
    Daruwala R.C., Song J., Koh W.S., Rumsey S.C., Levine M.
    FEBS Lett. 460:480-484(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-421.
    Tissue: Kidney.
  4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-421.
    Tissue: Kidney.
  5. "Characterization of the genomic structure of the human vitamin C transporter SVCT1 (SLC23A2)."
    Erichsen H.C., Eck P., Levine M., Chanock S.
    J. Nutr. 131:2623-2627(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT ALA-421.
  6. "Vitamin C transport systems of mammalian cells."
    Liang W.J., Johnson D., Jarvis S.M.
    Mol. Membr. Biol. 18:87-95(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-421.
    Tissue: Liver cancer.
  7. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT ALA-421.
    Tissue: Colon and Kidney.
  9. "Topological studies of hSVCT1, the human sodium-dependent vitamin C transporter and the influence of N-glycosylation on its intracellular targeting."
    Velho A.M., Jarvis S.M.
    Exp. Cell Res. 315:2312-2321(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-138 AND ASN-144, SUBCELLULAR LOCATION, TOPOLOGY.

Entry informationi

Entry nameiS23A1_HUMAN
AccessioniPrimary (citable) accession number: Q9UHI7
Secondary accession number(s): O95191
, Q8WWB6, Q9UGH4, Q9UI39
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 128 of the entry and version 3 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

Miscellaneous

Treatment with the protein kinase C stimulator PMA results in a 10-fold decrease in ascorbate accumulation in transfected cells.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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