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P32189 (GLPK_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 147. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glycerol kinase

Short name=GK
Short name=Glycerokinase
EC=2.7.1.30
Alternative name(s):
ATP:glycerol 3-phosphotransferase
Gene names
Name:GK
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length559 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Key enzyme in the regulation of glycerol uptake and metabolism.

Catalytic activity

ATP + glycerol = ADP + sn-glycerol 3-phosphate.

Pathway

Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol: step 1/1.

Subcellular location

Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Note: In sperm and fetal tissues, the majority of the enzyme is bound to mitochondria, but in adult tissues, such as liver found in the cytoplasm.

Tissue specificity

Highly expressed in the liver, kidney and testis. Isoform 2 and isoform 3 are expressed specifically in testis and fetal liver, but not in the adult liver.

Involvement in disease

Glycerol kinase deficiency (GKD) [MIM:307030]: A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10 Ref.11

Sequence similarities

Belongs to the FGGY kinase family.

Sequence caution

The sequence CAA48346.1 differs from that shown. Reason: Frameshift at positions 201, 210 and 459.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NR4A1P227363EBI-3926629,EBI-721550

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 3 (identifier: P32189-3)

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 1 (identifier: P32189-1)

The sequence of this isoform differs from the canonical sequence as follows:
     245-250: Missing.
     528-556: Missing.
Isoform 2 (identifier: P32189-2)

The sequence of this isoform differs from the canonical sequence as follows:
     245-250: Missing.
Isoform 4 (identifier: P32189-4)

The sequence of this isoform differs from the canonical sequence as follows:
     528-556: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 559559Glycerol kinase
PRO_0000059535

Regions

Nucleotide binding433 – 4375ATP By similarity

Sites

Binding site201Substrate By similarity
Binding site241ATP By similarity
Binding site941Substrate By similarity
Binding site1481Substrate By similarity
Binding site2651Substrate By similarity
Binding site2871ATP By similarity
Binding site3321ATP; via carbonyl oxygen By similarity

Natural variations

Alternative sequence245 – 2506Missing in isoform 1 and isoform 2.
VSP_000770
Alternative sequence528 – 55629Missing in isoform 1 and isoform 4.
VSP_000771
Natural variant791N → K. Ref.6
Corresponds to variant rs17857267 [ dbSNP | Ensembl ].
VAR_068980
Natural variant1311P → T. Ref.6
Corresponds to variant rs17854203 [ dbSNP | Ensembl ].
VAR_068981
Natural variant1851S → N.
VAR_001374
Natural variant2321N → H.
VAR_001375
Natural variant2941N → D in GKD. Ref.11
VAR_015433
Natural variant3821A → T.
VAR_001376
Natural variant4461D → V in GKD. Ref.9
VAR_001377
Natural variant5091W → R in GKD. Ref.10
VAR_010138

Sequences

Sequence LengthMass (Da)Tools
Isoform 3 [UniParc].

Last modified July 22, 2008. Version 3.
Checksum: 18268B7A4C6A09F3

FASTA55961,245
        10         20         30         40         50         60 
MAASKKAVLG PLVGAVDQGT SSTRFLVFNS KTAELLSHHQ VEIKQEFPRE GWVEQDPKEI 

        70         80         90        100        110        120 
LHSVYECIEK TCEKLGQLNI DISNIKAIGV SNQRETTVVW DKITGEPLYN AVVWLDLRTQ 

       130        140        150        160        170        180 
STVESLSKRI PGNNNFVKSK TGLPLSTYFS AVKLRWLLDN VRKVQKAVEE KRALFGTIDS 

       190        200        210        220        230        240 
WLIWSLTGGV NGGVHCTDVT NASRTMLFNI HSLEWDKQLC EFFGIPMEIL PNVRSSSEIY 

       250        260        270        280        290        300 
GLMKISHSVK AGALEGVPIS GCLGDQSAAL VGQMCFQIGQ AKNTYGTGCF LLCNTGHKCV 

       310        320        330        340        350        360 
FSDHGLLTTV AYKLGRDKPV YYALEGSVAI AGAVIRWLRD NLGIIKTSEE IEKLAKEVGT 

       370        380        390        400        410        420 
SYGCYFVPAF SGLYAPYWEP SARGIICGLT QFTNKCHIAF AALEAVCFQT REILDAMNRD 

       430        440        450        460        470        480 
CGIPLSHLQV DGGMTSNKIL MQLQADILYI PVVKPSMPET TALGAAMAAG AAEGVGVWSL 

       490        500        510        520        530        540 
EPEDLSAVTM ERFEPQINAE ESEIRYSTWK KAVMKSMGWV TTQSPESGDP SIFCSLPLGF 

       550 
FIVSSMVMLI GARYISGIP 

« Hide

Isoform 1 [UniParc].

Checksum: 0FAA29ADC6054154
Show »

FASTA52457,489
Isoform 2 [UniParc].

Checksum: 145FA42A6BEA104F
Show »

FASTA55360,593
Isoform 4 [UniParc].

Checksum: AC9EEBB80003DEE7
Show »

FASTA53058,141

References

« Hide 'large scale' references
[1]"Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene."
Guo W., Worley K.C., Adams V., Mason J., Sylvester-Jackson D.E., Zhang Y.-H., Towbin J.A., Fogt D.D., Madu S., Wheeler D.A., McCabe E.R.B.
Nat. Genet. 4:367-372(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Liver.
[2]"The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons."
Sargent C.A., Young C., Marsh S., Ferguson-Smith M.A., Affara N.A.
Hum. Mol. Genet. 3:1317-1324(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2).
Tissue: Fetal brain.
[3]"Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation."
Sargent C.A., Kidd A., Moore S., Dean J., Besley G.T.N., Affara N.A.
J. Med. Genet. 37:434-441(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3).
[4]"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] (ISOFORM 1).
[5]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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; 3 AND 4), VARIANTS LYS-79 AND THR-131.
Tissue: Blood and Brain.
[7]"Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue."
Sargent C.A., Affara N.A., Bentley E., Pelmear A., Bailey D.M.D., Davey P., Dow D., Leversha M., Aplin H., Besley G.T.N., Ferguson-Smith M.A.
Hum. Mol. Genet. 2:97-106(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 77-559 (ISOFORM 3).
Tissue: Fetal brain.
[8]"Isolation of the human Xp21 glycerol kinase gene by positional cloning."
Walker A.P., Muscatelli F., Monaco A.P.
Hum. Mol. Genet. 2:107-114(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 130-559 (ISOFORM 1).
Tissue: Fetal liver.
[9]"Mutations and phenotype in isolated glycerol kinase deficiency."
Walker A.P., Muscatelli F., Stafford A.N., Chelly J., Dahl N., Blomquist H.K., Delanghe J., Willems P.J., Steinmann B., Monaco A.P.
Am. J. Hum. Genet. 58:1205-1211(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GKD VAL-446.
[10]"Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency."
Sjarif D.R., Sinke R.J., Duran M., Beemer F.A., Kleijer W.J., Ploos van Amstel J.K., Poll-The B.T.
J. Med. Genet. 35:650-656(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GKD ARG-509.
[11]"Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait."
Gaudet D., Arsenault S., Perusse L., Vohl M.C., St Pierre J., Bergeron J., Despres J.P., Dewar K., Daly M.J., Hudson T., Rioux J.D.
Am. J. Hum. Genet. 66:1558-1568(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GKD ASP-294.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L13943 mRNA. Translation: AAA52576.1.
X78211 Genomic DNA. No translation available.
AJ252550 expand/collapse EMBL AC list , AJ252551, AJ252552, AJ252553, AJ252554, AJ252555, AJ252556, AJ252557, AJ252558, AJ252559, AJ252560, AJ252561, AJ252562, AJ252563, AJ252564, AJ252565, AJ252566, AJ252567, AJ252568, AJ252569, AJ252570 Genomic DNA. Translation: CAB54859.1.
AJ252550 expand/collapse EMBL AC list , AJ252551, AJ252552, AJ252553, AJ252554, AJ252555, AJ252556, AJ252557, AJ252559, AJ252560, AJ252561, AJ252562, AJ252563, AJ252564, AJ252565, AJ252566, AJ252567, AJ252568, AJ252569, AJ252570 Genomic DNA. Translation: CAB54858.1.
AJ252550 expand/collapse EMBL AC list , AJ252551, AJ252552, AJ252553, AJ252554, AJ252555, AJ252556, AJ252557, AJ252559, AJ252560, AJ252561, AJ252562, AJ252563, AJ252564, AJ252565, AJ252566, AJ252567, AJ252568, AJ252570 Genomic DNA. Translation: CAB54857.1.
AK313215 mRNA. Translation: BAG36030.1.
AC005913 Genomic DNA. No translation available.
AC112496 Genomic DNA. No translation available.
AC117404 Genomic DNA. No translation available.
BC037549 mRNA. Translation: AAH37549.1.
BC042421 mRNA. Translation: AAH42421.1.
BC071595 mRNA. Translation: AAH71595.1.
X68285 mRNA. Translation: CAA48346.1. Frameshift.
X69886 mRNA. Translation: CAA49512.1.
PIRS36175. I37427.
RefSeqNP_000158.1. NM_000167.5.
NP_001121599.1. NM_001128127.2.
NP_001191948.1. NM_001205019.1.
NP_976325.1. NM_203391.3.
UniGeneHs.1466.

3D structure databases

ProteinModelPortalP32189.
SMRP32189. Positions 13-520.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108975. 12 interactions.
IntActP32189. 11 interactions.
STRING9606.ENSP00000368226.

Chemistry

BindingDBP32189.
ChEMBLCHEMBL2300.

PTM databases

PhosphoSiteP32189.

Polymorphism databases

DMDM205830913.

Proteomic databases

PaxDbP32189.
PRIDEP32189.

Protocols and materials databases

DNASU2710.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000378943; ENSP00000368226; ENSG00000198814. [P32189-2]
ENST00000378945; ENSP00000368228; ENSG00000198814. [P32189-1]
ENST00000378946; ENSP00000368229; ENSG00000198814. [P32189-4]
GeneID2710.
KEGGhsa:2710.
UCSCuc004dci.4. human. [P32189-1]
uc010ngj.3. human. [P32189-2]
uc011mjz.2. human. [P32189-3]

Organism-specific databases

CTD2710.
GeneCardsGC0XP030671.
HGNCHGNC:4289. GK.
HPAHPA060687.
MIM300474. gene.
307030. phenotype.
neXtProtNX_P32189.
Orphanet284414. Glycerol kinase deficiency, adult form.
284408. Glycerol kinase deficiency, infantile form.
284411. Glycerol kinase deficiency, juvenile form.
PharmGKBPA28700.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0554.
HOGENOMHOG000222134.
HOVERGENHBG002451.
InParanoidP32189.
KOK00864.
OMAAMEGSVF.
OrthoDBEOG7VTDMZ.
PhylomeDBP32189.
TreeFamTF321504.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
UniPathwayUPA00618; UER00672.

Gene expression databases

ArrayExpressP32189.
BgeeP32189.
CleanExHS_GK.
GenevestigatorP32189.

Family and domain databases

InterProIPR018485. Carb_kinase_FGGY_C.
IPR018483. Carb_kinase_FGGY_CS.
IPR018484. Carb_kinase_FGGY_N.
IPR005999. Glycerol_kin.
[Graphical view]
PfamPF02782. FGGY_C. 1 hit.
PF00370. FGGY_N. 1 hit.
[Graphical view]
TIGRFAMsTIGR01311. glycerol_kin. 1 hit.
PROSITEPS00933. FGGY_KINASES_1. 1 hit.
PS00445. FGGY_KINASES_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi2710.
NextBio10712.
PROP32189.
SOURCESearch...

Entry information

Entry nameGLPK_HUMAN
AccessionPrimary (citable) accession number: P32189
Secondary accession number(s): A6NJP5 expand/collapse secondary AC list , B2R833, Q6IQ27, Q8IVR5, Q9UMP0, Q9UMP1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: July 22, 2008
Last modified: April 16, 2014
This is version 147 of the entry and version 3 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

PATHWAY comments

Index of metabolic and biosynthesis pathways

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 X

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