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Q9HAS3 (S28A3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. 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·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Solute carrier family 28 member 3
Alternative name(s):
Concentrative Na(+)-nucleoside cotransporter 3
Short name=CNT 3
Short name=hCNT3
Gene names
Name:SLC28A3
Synonyms:CNT3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length691 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Sodium-dependent, pyrimidine- and purine-selective. Involved in the homeostasis of endogenous nucleosides. Exhibits the transport characteristics of the nucleoside transport system cib or N3 subtype (N3/cib) (with marked transport of both thymidine and inosine). Employs a 2:1 sodium/nucleoside ratio. Also able to transport gemcitabine, 3'-azido-3'-deoxythymidine (AZT), ribavirin and 3-deazauridine. Ref.1 Ref.7 Ref.8

Subcellular location

Isoform 1: Cell membrane; Multi-pass membrane protein Ref.9.

Isoform 2: Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.9.

Tissue specificity

Expressed in pancreas, bone marrow, trachea, mammary gland, liver, prostate, and regions of intestine, brain, lung, placenta, testis, kidney, and heart. Ref.1

Induction

Up-regulated by phorbol myristate acetate (PMA) in HL-60 cells. Ref.1

Sequence similarities

Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family. [View classification]

Biophysicochemical properties

Kinetic parameters:

KM=21.6 µM for uridine Ref.1 Ref.6

KM=15.4 µM for cytidine

KM=21.2 µM for thymidine

KM=15.1 µM for adenosine

KM=43 µM for guanosine

KM=52.5 µM for inosine

Vmax=25.8 pmol/min/mg enzyme for uridine uptake

Vmax=32.8 pmol/min/mg enzyme for cytidine uptake

Vmax=24.2 pmol/min/mg enzyme for thymidine uptake

Vmax=30.4 pmol/min/mg enzyme for adenosine uptake

Vmax=51.4 pmol/min/mg enzyme for guanosine uptake

Vmax=44.8 pmol/min/mg enzyme for inosine uptake

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9HAS3-1)

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: Q9HAS3-2)

Also known as: hCNT3ins;

The sequence of this isoform differs from the canonical sequence as follows:
     1-69: Missing.
Note: Exhibits a shorter half-life than isoform 1, degraded via a proteasome-dependent pathway.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 691691Solute carrier family 28 member 3
PRO_0000324146

Regions

Topological domain1 – 102102Cytoplasmic Potential
Transmembrane103 – 12321Helical; Potential
Topological domain124 – 1274Extracellular Potential
Transmembrane128 – 14821Helical; Potential
Topological domain149 – 17022Cytoplasmic Potential
Transmembrane171 – 19121Helical; Potential
Topological domain192 – 2009Extracellular Potential
Transmembrane201 – 22121Helical; Potential
Topological domain222 – 2232Cytoplasmic Potential
Transmembrane224 – 24421Helical; Potential
Topological domain245 – 28743Extracellular Potential
Transmembrane288 – 30821Helical; Potential
Topological domain309 – 3146Cytoplasmic Potential
Transmembrane315 – 33521Helical; Potential
Topological domain336 – 36126Extracellular Potential
Transmembrane362 – 38221Helical; Potential
Topological domain383 – 3886Cytoplasmic Potential
Transmembrane389 – 40921Helical; Potential
Topological domain410 – 44334Extracellular Potential
Transmembrane444 – 46421Helical; Potential
Topological domain465 – 47915Cytoplasmic Potential
Transmembrane480 – 50021Helical; Potential
Topological domain501 – 55353Extracellular Potential
Transmembrane554 – 57421Helical; Potential
Topological domain575 – 59319Cytoplasmic Potential
Transmembrane594 – 61421Helical; Potential
Topological domain615 – 69177Extracellular Potential

Natural variations

Alternative sequence1 – 6969Missing in isoform 2.
VSP_053848
Natural variant41R → K. Ref.10
Corresponds to variant rs11568401 [ dbSNP | Ensembl ].
VAR_039665
Natural variant51S → N. Ref.6 Ref.10
Corresponds to variant rs11568403 [ dbSNP | Ensembl ].
VAR_039666
Natural variant621D → H. Ref.10
Corresponds to variant rs45621433 [ dbSNP | Ensembl ].
VAR_039667
Natural variant671R → K. Ref.10
Corresponds to variant rs11568411 [ dbSNP | Ensembl ].
VAR_039668
Natural variant1131Y → C. Ref.2 Ref.10
Corresponds to variant rs10868138 [ dbSNP | Ensembl ].
VAR_039669
Natural variant1311L → F. Ref.6
VAR_039670
Natural variant2211P → Q.
Corresponds to variant rs11140503 [ dbSNP | Ensembl ].
VAR_039671
Natural variant3281I → V. Ref.10
Corresponds to variant rs11568418 [ dbSNP | Ensembl ].
VAR_039672
Natural variant3491R → Q. Ref.10
Corresponds to variant rs45525131 [ dbSNP | Ensembl ].
VAR_039673
Natural variant3661A → T. Ref.2
Corresponds to variant rs140138960 [ dbSNP | Ensembl ].
VAR_070606
Natural variant3671G → R Reduced transport of inosine and thymidine. Ref.10
VAR_039674
Natural variant4181L → I. Ref.10
Corresponds to variant rs11568405 [ dbSNP | Ensembl ].
VAR_039675
Natural variant5131Y → F. Ref.2 Ref.6
Corresponds to variant rs56350726 [ dbSNP | Ensembl ].
VAR_039676
Natural variant5851R → H. Ref.10
Corresponds to variant rs11568398 [ dbSNP | Ensembl ].
VAR_039677
Natural variant6021C → R Lower concentrative capacity and altered sodium binding capacity. Ref.11
VAR_039678

Experimental info

Sequence conflict2511I → V in BAG36748. Ref.2
Sequence conflict2931V → I in BAG36748. Ref.2
Sequence conflict5051F → L in BAG65240. Ref.2
Sequence conflict6281A → S in BAF85538. Ref.2
Sequence conflict6391K → E in BAG36748. Ref.2

Sequences

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

Last modified March 1, 2001. Version 1.
Checksum: 80FD14518A8BFA61

FASTA69176,930
        10         20         30         40         50         60 
MELRSTAAPR AEGYSNVGFQ NEENFLENEN TSGNNSIRSR AVQSREHTNT KQDEEQVTVE 

        70         80         90        100        110        120 
QDSPRNREHM EDDDEEMQQK GCLERRYDTV CGFCRKHKTT LRHIIWGILL AGYLVMVISA 

       130        140        150        160        170        180 
CVLNFHRALP LFVITVAAIF FVVWDHLMAK YEHRIDEMLS PGRRLLNSHW FWLKWVIWSS 

       190        200        210        220        230        240 
LVLAVIFWLA FDTAKLGQQQ LVSFGGLIMY IVLLFLFSKY PTRVYWRPVL WGIGLQFLLG 

       250        260        270        280        290        300 
LLILRTDPGF IAFDWLGRQV QTFLEYTDAG ASFVFGEKYK DHFFAFKVLP IVVFFSTVMS 

       310        320        330        340        350        360 
MLYYLGLMQW IIRKVGWIML VTTGSSPIES VVASGNIFVG QTESPLLVRP YLPYITKSEL 

       370        380        390        400        410        420 
HAIMTAGFST IAGSVLGAYI SFGVPSSHLL TASVMSAPAS LAAAKLFWPE TEKPKITLKN 

       430        440        450        460        470        480 
AMKMESGDSG NLLEAATQGA SSSISLVANI AVNLIAFLAL LSFMNSALSW FGNMFDYPQL 

       490        500        510        520        530        540 
SFELICSYIF MPFSFMMGVE WQDSFMVARL IGYKTFFNEF VAYEHLSKWI HLRKEGGPKF 

       550        560        570        580        590        600 
VNGVQQYISI RSEIIATYAL CGFANIGSLG IVIGGLTSMA PSRKRDIASG AVRALIAGTV 

       610        620        630        640        650        660 
ACFMTACIAG ILSSTPVDIN CHHVLENAFN STFPGNTTKV IACCQSLLSS TVAKGPGEVI 

       670        680        690 
PGGNHSLYSL KGCCTLLNPS TFNCNGISNT F 

« Hide

Isoform 2 (hCNT3ins) [UniParc].

Checksum: 8C9CB6F47D0AC0C0
Show »

FASTA62269,027

References

« Hide 'large scale' references
[1]"Molecular identification and characterization of novel human and mouse concentrative Na+-nucleoside cotransporter proteins (hCNT3 and mCNT3) broadly selective for purine and pyrimidine nucleosides (system cib)."
Ritzel M.W.L., Ng A.M.L., Yao S.Y.M., Graham K., Loewen S.K., Smith K.M., Ritzel R.G., Mowles D.A., Carpenter P., Chen X.-Z., Karpinski E., Hyde R.J., Baldwin S.A., Cass C.E., Young J.D.
J. Biol. Chem. 276:2914-2927(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INDUCTION, TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES, FUNCTION.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS CYS-113; THR-366 AND PHE-513.
Tissue: Trachea.
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] (ISOFORM 1).
Tissue: Colon.
[6]"Identification and functional characterization of variants in human concentrative nucleoside transporter 3, hCNT3 (SLC28A3), arising from single nucleotide polymorphisms in coding regions of the hCNT3 gene."
Damaraju S., Zhang J., Visser F., Tackaberry T., Dufour J., Smith K.M., Slugoski M., Ritzel M.W.L., Baldwin S.A., Young J.D., Cass C.E.
Pharmacogenet. Genomics 15:173-182(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: BIOPHYSICOCHEMICAL PROPERTIES, VARIANTS ASN-5; PHE-131 AND PHE-513.
[7]"Electrophysiological characterization and modeling of the structure activity relationship of the human concentrative nucleoside transporter 3 (hCNT3)."
Hu H., Endres C.J., Chang C., Umapathy N.S., Lee E.-W., Fei Y.-J., Itagaki S., Swaan P.W., Ganapathy V., Unadkat J.D.
Mol. Pharmacol. 69:1542-1553(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[8]"Ribavirin uptake by cultured human choriocarcinoma (BeWo) cells and Xenopus laevis oocytes expressing recombinant plasma membrane human nucleoside transporters."
Yamamoto T., Kuniki K., Takekuma Y., Hirano T., Iseki K., Sugawara M.
Eur. J. Pharmacol. 557:1-8(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[9]"A splice variant of the SLC28A3 gene encodes a novel human concentrative nucleoside transporter-3 (hCNT3) protein localized in the endoplasmic reticulum."
Errasti-Murugarren E., Molina-Arcas M., Casado F.J., Pastor-Anglada M.
FASEB J. 23:172-182(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, ALTERNATIVE SPLICING.
[10]"Functional analysis of genetic variants in the human concentrative nucleoside transporter 3 (CNT3; SLC28A3)."
Badagnani I., Chan W., Castro R.A., Brett C.M., Huang C.C., Stryke D., Kawamoto M., Johns S.J., Ferrin T.E., Carlson E.J., Burchard E.G., Giacomini K.M.
Pharmacogenomics J. 5:157-165(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LYS-4; ASN-5; HIS-62; LYS-67; CYS-113; VAL-328; GLN-349; ARG-367; ILE-418 AND HIS-585, CHARACTERIZATION OF VARIANT ARG-367.
[11]"Functional characterization of a nucleoside-derived drug transporter variant (hCNT3C602R) showing altered sodium-binding capacity."
Errasti-Murugarren E., Cano-Soldado P., Pastor-Anglada M., Casado F.J.
Mol. Pharmacol. 73:379-386(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ARG-602, CHARACTERIZATION OF VARIANT ARG-602.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF305210 mRNA. Translation: AAG22551.1.
AK292849 mRNA. Translation: BAF85538.1.
AK304406 mRNA. Translation: BAG65240.1.
AK314039 mRNA. Translation: BAG36748.1.
AL356134, AL353787 Genomic DNA. Translation: CAH73162.1.
AL353787, AL356134 Genomic DNA. Translation: CAI16332.1.
BC093821 mRNA. Translation: AAH93821.1.
BC093823 mRNA. Translation: AAH93823.1.
CH471089 Genomic DNA. Translation: EAW62686.1.
CCDSCCDS6670.1.
RefSeqNP_001186562.1. NM_001199633.1. [Q9HAS3-1]
NP_071410.1. NM_022127.2. [Q9HAS3-1]
UniGeneHs.535966.

3D structure databases

ProteinModelPortalQ9HAS3.
SMRQ9HAS3. Positions 201-612.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000365413.

Chemistry

BindingDBQ9HAS3.
ChEMBLCHEMBL5707.

Protein family/group databases

TCDB2.A.41.2.8. the concentrative nucleoside transporter (cnt) family.

PTM databases

PhosphoSiteQ9HAS3.

Polymorphism databases

DMDM74752767.

Proteomic databases

PaxDbQ9HAS3.
PRIDEQ9HAS3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000376238; ENSP00000365413; ENSG00000197506.
ENST00000537648; ENSP00000446438; ENSG00000197506.
GeneID64078.
KEGGhsa:64078.
UCSCuc004anu.2. human. [Q9HAS3-1]

Organism-specific databases

CTD64078.
GeneCardsGC09M086890.
HGNCHGNC:16484. SLC28A3.
HPAHPA023311.
HPA024729.
MIM608269. gene.
neXtProtNX_Q9HAS3.
PharmGKBPA426.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1972.
HOGENOMHOG000267658.
HOVERGENHBG054073.
InParanoidQ9HAS3.
KOK11536.
OMATRVYWRP.
OrthoDBEOG7RV9FR.
PhylomeDBQ9HAS3.
TreeFamTF314131.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9HAS3.
BgeeQ9HAS3.
CleanExHS_SLC28A3.
GenevestigatorQ9HAS3.

Family and domain databases

InterProIPR008276. C_nuclsd_transpt.
IPR018270. C_nuclsd_transpt_met_bac.
IPR011657. Nucleos_tra2_C.
IPR011642. Nucleoside_recog_Gate.
IPR002668. Nuclsd_transpt2.
[Graphical view]
PANTHERPTHR10590. PTHR10590. 1 hit.
PfamPF07670. Gate. 1 hit.
PF07662. Nucleos_tra2_C. 1 hit.
PF01773. Nucleos_tra2_N. 1 hit.
[Graphical view]
TIGRFAMsTIGR00804. nupC. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi64078.
NextBio35477357.
PROQ9HAS3.
SOURCESearch...

Entry information

Entry nameS28A3_HUMAN
AccessionPrimary (citable) accession number: Q9HAS3
Secondary accession number(s): A8K9Y4 expand/collapse secondary AC list , B1AML0, B2RA51, B4E2S8, F5GYE3
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 109 of the entry and version 1 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 9

Human chromosome 9: entries, gene names and cross-references to MIM