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Q9NQH7 (XPP3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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:
Probable Xaa-Pro aminopeptidase 3

Short name=X-Pro aminopeptidase 3
EC=3.4.11.9
Alternative name(s):
Aminopeptidase P3
Short name=APP3
Gene names
Name:XPNPEP3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length507 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

Release of any N-terminal amino acid, including proline, that is linked to proline, even from a dipeptide or tripeptide.

Cofactor

Binds 2 manganese ions per subunit By similarity.

Subcellular location

Mitochondrion Ref.10.

Tissue specificity

Isoform 1 and isoform 2 are widely expressed, with isoform 1 being more abundant. Ref.8

Involvement in disease

Nephronophthisis-like nephropathy 1 (NPHPL1) [MIM:613159]: A disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal symptoms include hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can manifest a mitochondrial disorder with isolated complex I deficiency activity in muscle, seizures, mental retardation and hypertrophic dilated cardiomyopathy.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Belongs to the peptidase M24B family.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NQH7-1)

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: Q9NQH7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.
Isoform 3 (identifier: Q9NQH7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     265-278: AFIETMFTSKAPVE → RQGFSVLSRLVSNS
     279-507: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9NQH7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9NQH7-5)

The sequence of this isoform differs from the canonical sequence as follows:
     265-288: AFIETMFTSKAPVEEAFLYAKFEF → KSVLLARHGGSRLYSHHFGRPRLS
     289-507: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 507507Probable Xaa-Pro aminopeptidase 3
PRO_0000255654

Sites

Metal binding3311Manganese 2 By similarity
Metal binding3421Manganese 1 By similarity
Metal binding3421Manganese 2 By similarity
Metal binding4241Manganese 1 By similarity
Metal binding4511Manganese 1 By similarity
Metal binding4751Manganese 1 By similarity
Metal binding4751Manganese 2 By similarity

Natural variations

Alternative sequence1 – 7979Missing in isoform 2.
VSP_021296
Alternative sequence1 – 2323Missing in isoform 4.
VSP_040142
Alternative sequence265 – 28824AFIET…AKFEF → KSVLLARHGGSRLYSHHFGR PRLS in isoform 5.
VSP_040143
Alternative sequence265 – 27814AFIET…KAPVE → RQGFSVLSRLVSNS in isoform 3.
VSP_021297
Alternative sequence279 – 507229Missing in isoform 3.
VSP_021298
Alternative sequence289 – 507219Missing in isoform 5.
VSP_040144
Natural variant4501I → L.
Corresponds to variant rs17002243 [ dbSNP | Ensembl ].
VAR_051573
Natural variant4531G → C in NPHPL1. Ref.10
VAR_063820

Experimental info

Sequence conflict3401V → A in CAG33677. Ref.1
Sequence conflict4861L → F in AAH01681. Ref.7

Sequences

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

Last modified October 1, 2000. Version 1.
Checksum: 82D886736ABD0B5B

FASTA50757,034
        10         20         30         40         50         60 
MPWLLSAPKL VPAVANVRGL SGCMLCSQRR YSLQPVPERR IPNRYLGQPS PFTHPHLLRP 

        70         80         90        100        110        120 
GEVTPGLSQV EYALRRHKLM SLIQKEAQGQ SGTDQTVVVL SNPTYYMSND IPYTFHQDNN 

       130        140        150        160        170        180 
FLYLCGFQEP DSILVLQSLP GKQLPSHKAI LFVPRRDPSR ELWDGPRSGT DGAIALTGVD 

       190        200        210        220        230        240 
EAYTLEEFQH LLPKMKAETN MVWYDWMRPS HAQLHSDYMQ PLTEAKAKSK NKVRGVQQLI 

       250        260        270        280        290        300 
QRLRLIKSPA EIERMQIAGK LTSQAFIETM FTSKAPVEEA FLYAKFEFEC RARGADILAY 

       310        320        330        340        350        360 
PPVVAGGNRS NTLHYVKNNQ LIKDGEMVLL DGGCESSCYV SDITRTWPVN GRFTAPQAEL 

       370        380        390        400        410        420 
YEAVLEIQRD CLALCFPGTS LENIYSMMLT LIGQKLKDLG IMKNIKENNA FKAARKYCPH 

       430        440        450        460        470        480 
HVGHYLGMDV HDTPDMPRSL PLQPGMVITI EPGIYIPEDD KDAPEKFRGL GVRIEDDVVV 

       490        500 
TQDSPLILSA DCPKEMNDIE QICSQAS 

« Hide

Isoform 2 [UniParc].

Checksum: E95AFE73A5D94D49
Show »

FASTA42848,112
Isoform 3 [UniParc].

Checksum: B4AD5CEB13853823
Show »

FASTA27831,529
Isoform 4 [UniParc].

Checksum: 6320B2E5975918BB
Show »

FASTA48454,672
Isoform 5 [UniParc].

Checksum: E245C092422567ED
Show »

FASTA28832,712

References

« Hide 'large scale' references
[1]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]"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; 4 AND 5).
Tissue: Esophageal carcinoma and Testis.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Testis.
[5]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]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].
[7]"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 1 AND 3).
Tissue: Lung.
[8]"Aminopeptidase P isozyme expression in human tissues and peripheral blood mononuclear cell fractions."
Ersahin C., Szpaderska A.M., Orawski A.T., Simmons W.H.
Arch. Biochem. Biophys. 435:303-310(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy."
O'Toole J.F., Liu Y., Davis E.E., Westlake C.J., Attanasio M., Otto E.A., Seelow D., Nurnberg G., Becker C., Nuutinen M., Karppa M., Ignatius J., Uusimaa J., Pakanen S., Jaakkola E., van den Heuvel L.P., Fehrenbach H., Wiggins R. expand/collapse author list , Goyal M., Zhou W., Wolf M.T., Wise E., Helou J., Allen S.J., Murga-Zamalloa C.A., Ashraf S., Chaki M., Heeringa S., Chernin G., Hoskins B.E., Chaib H., Gleeson J., Kusakabe T., Suzuki T., Isaac R.E., Quarmby L.M., Tennant B., Fujioka H., Tuominen H., Hassinen I., Lohi H., van Houten J.L., Rotig A., Sayer J.A., Rolinski B., Freisinger P., Madhavan S.M., Herzer M., Madignier F., Prokisch H., Nurnberg P., Jackson P.K., Khanna H., Katsanis N., Hildebrandt F.
J. Clin. Invest. 120:791-802(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NPHPL1 CYS-453, SUBCELLULAR LOCATION.
[11]Erratum
O'Toole J.F., Liu Y., Davis E.E., Westlake C.J., Attanasio M., Otto E.A., Seelow D., Nurnberg G., Becker C., Nuutinen M., Karppa M., Ignatius J., Uusimaa J., Pakanen S., Jaakkola E., van den Heuvel L.P., Fehrenbach H., Wiggins R. expand/collapse author list , Goyal M., Zhou W., Wolf M.T., Wise E., Helou J., Allen S.J., Murga-Zamalloa C.A., Ashraf S., Chaki M., Heeringa S., Chernin G., Hoskins B.E., Chaib H., Gleeson J., Kusakabe T., Suzuki T., Isaac R.E., Quarmby L.M., Tennant B., Fujioka H., Tuominen H., Hassinen I., Lohi H., van Houten J.L., Rotig A., Sayer J.A., Rolinski B., Freisinger P., Madhavan S.M., Herzer M., Madignier F., Prokisch H., Nurnberg P., Jackson P.K., Khanna H., Katsanis N., Hildebrandt F.
J. Clin. Invest. 120:1362-1362(2010)
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
CR457396 mRNA. Translation: CAG33677.1.
AL365514 mRNA. Translation: CAB97210.1.
CR456442 mRNA. Translation: CAG30328.1.
AK301635 mRNA. Translation: BAH13526.1.
AK301758 mRNA. Translation: BAH13548.1.
AK313770 mRNA. Translation: BAG36508.1.
AL834310 mRNA. Translation: CAD38980.1.
Z98048, AL035450 Genomic DNA. Translation: CAI20492.1.
AL035450, Z98048 Genomic DNA. Translation: CAI19023.1.
CH471095 Genomic DNA. Translation: EAW60399.1.
BC001208 mRNA. Translation: AAH01208.1.
BC001681 mRNA. Translation: AAH01681.1.
BC004989 mRNA. Translation: AAH04989.1.
RefSeqNP_071381.1. NM_022098.3.
UniGeneHs.529163.

3D structure databases

ProteinModelPortalQ9NQH7.
SMRQ9NQH7. Positions 67-506.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121997. 5 interactions.
IntActQ9NQH7. 5 interactions.
MINTMINT-1142970.
STRING9606.ENSP00000349658.

Protein family/group databases

MEROPSM24.026.

PTM databases

PhosphoSiteQ9NQH7.

Polymorphism databases

DMDM74761652.

Proteomic databases

PaxDbQ9NQH7.
PRIDEQ9NQH7.

Protocols and materials databases

DNASU63929.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000357137; ENSP00000349658; ENSG00000196236. [Q9NQH7-1]
ENST00000414396; ENSP00000397110; ENSG00000196236. [Q9NQH7-3]
ENST00000541156; ENSP00000443682; ENSG00000196236. [Q9NQH7-5]
ENST00000544094; ENSP00000441942; ENSG00000196236. [Q9NQH7-4]
GeneID63929.
KEGGhsa:63929.
UCSCuc003azh.3. human. [Q9NQH7-1]
uc011aox.2. human. [Q9NQH7-5]

Organism-specific databases

CTD63929.
GeneCardsGC22P041253.
HGNCHGNC:28052. XPNPEP3.
HPAHPA000527.
MIM613159. phenotype.
613553. gene.
neXtProtNX_Q9NQH7.
Orphanet93589. Late-onset autosomal recessive medullary cystic kidney disease.
PharmGKBPA147357130.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0006.
HOVERGENHBG057305.
InParanoidQ9NQH7.
KOK01262.
OMACILHYQQ.
OrthoDBEOG7K9K39.
PhylomeDBQ9NQH7.
TreeFamTF314484.

Gene expression databases

ArrayExpressQ9NQH7.
BgeeQ9NQH7.
CleanExHS_XPNPEP3.
GenevestigatorQ9NQH7.

Family and domain databases

Gene3D3.90.230.10. 1 hit.
InterProIPR007865. Aminopep_P_N.
IPR000994. Pept_M24_structural-domain.
[Graphical view]
PfamPF05195. AMP_N. 1 hit.
PF00557. Peptidase_M24. 1 hit.
[Graphical view]
SMARTSM01011. AMP_N. 1 hit.
[Graphical view]
SUPFAMSSF55920. SSF55920. 1 hit.
ProtoNetSearch...

Other

GeneWikiXPNPEP3.
GenomeRNAi63929.
NextBio65674.
PROQ9NQH7.
SOURCESearch...

Entry information

Entry nameXPP3_HUMAN
AccessionPrimary (citable) accession number: Q9NQH7
Secondary accession number(s): B2R9G1 expand/collapse secondary AC list , B7Z790, B7Z7B2, Q6I9V9, Q8NDA6, Q9BV27, Q9BVH0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 114 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

Peptidase families

Classification of peptidase families and list of entries

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 22

Human chromosome 22: entries, gene names and cross-references to MIM