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Q09470 (KCNA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 148. 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·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Potassium voltage-gated channel subfamily A member 1
Alternative name(s):
Voltage-gated K(+) channel HuKI
Voltage-gated potassium channel HBK1
Voltage-gated potassium channel subunit Kv1.1
Gene names
Name:KCNA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length495 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient.

Subunit structure

Heterotetramer of potassium channel proteins. Binds KCNAB2 and PDZ domains of DLG1, DLG2 and DLG4 By similarity. Interacts with LGI1 within a complex containing LGI1, KCNA4 and KCNAB1 By similarity.

Subcellular location

Membrane; Multi-pass membrane protein.

Domain

The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.

Post-translational modification

Palmitoylated on Cys-243; which may be required for membrane targeting. Ref.7

Involvement in disease

Episodic ataxia 1 (EA1) [MIM:160120]: An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16

Myokymia isolated 1 (MK1) [MIM:160120]: A condition characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have no grave significance.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14 Ref.17

Sequence similarities

Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.1/KCNA1 sub-subfamily. [View classification]

RNA editing

Edited at position 400.
Partially edited. RNA editing varies from 17% in the caudate nucleus to 68% in the spinal cord and to 77% in the medulla. Ref.6

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Dlg3Q629362EBI-8286599,EBI-349596From a different organism.
DLG4P783522EBI-8286599,EBI-80389

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 495495Potassium voltage-gated channel subfamily A member 1
PRO_0000053968

Regions

Transmembrane168 – 18619Helical; Name=Segment S1; Potential
Transmembrane221 – 24222Helical; Name=Segment S2; Potential
Transmembrane254 – 27421Helical; Name=Segment S3; Potential
Transmembrane290 – 30920Helical; Voltage-sensor; Name=Segment S4; Potential
Transmembrane326 – 34520Helical; Name=Segment S5; Potential
Transmembrane387 – 40822Helical; Name=Segment S6; Potential
Motif372 – 3776Selectivity filter By similarity
Motif493 – 4953PDZ-binding By similarity

Amino acid modifications

Modified residue3221Phosphoserine; by PKA Potential
Modified residue4451Phosphoserine; by PKA Potential
Lipidation2431S-palmitoyl cysteine Ref.7
Glycosylation2071N-linked (GlcNAc...) Potential

Natural variations

Natural variant1741V → F in EA1. Ref.8 Ref.9
VAR_001508
Natural variant1771I → R in EA1. Ref.12
VAR_001509
Natural variant1841F → C in EA1; alters voltage dependence and kinetics of activation though not of C-type inactivation. Ref.9 Ref.10
VAR_020830
Natural variant2041R → H.
Corresponds to variant rs2229000 [ dbSNP | Ensembl ].
VAR_020051
Natural variant2261T → A in EA1. Ref.12
VAR_001510
Natural variant2261T → K in MK1; induces a reduced efflux of potassium ions during depolarization which results in increased muscle cell activity; coexpression studies of the mutant protein with the wild-type protein produces significantly reduced currents suggesting a severe effect of the mutation. Ref.17
Corresponds to variant rs28933383 [ dbSNP | Ensembl ].
VAR_037100
Natural variant2261T → M in EA1. Ref.11
VAR_020831
Natural variant2261T → R in EA1; yields currents with a largely reduced amplitude. Ref.13
Corresponds to variant rs28933383 [ dbSNP | Ensembl ].
VAR_037101
Natural variant2391R → S in EA1. Ref.8
VAR_001511
Natural variant2421A → P in MK1; 10% reduction of mean peak current amplitudes compared to wil-dtype; mutant and wild-type expression together is consistent with a loss-of-function effect of the mutation. Ref.14
Corresponds to variant rs28933381 [ dbSNP | Ensembl ].
VAR_037102
Natural variant2441P → H in MK1; no difference between the mutation compared to wild-type; although coexpression experiments with wild-type RNA yielded a peak current amplitude that was 200% of wildt-ype alone; coexpression of the mutant and wild-type genes had only a small effect on current activation parameters. Ref.14
Corresponds to variant rs28933382 [ dbSNP | Ensembl ].
VAR_037103
Natural variant2491F → I in EA1. Ref.8
VAR_001512
Natural variant3251E → D in EA1; results in non-functional homomeric channels. Ref.9 Ref.10
VAR_020832
Natural variant3291L → I in EA1. Ref.15
VAR_020833
Natural variant3421S → I in EA1; phenotype without myokymia. Ref.16
VAR_020834
Natural variant4001I → V in RNA edited version.
VAR_016805
Natural variant4041V → I in EA1; yields current amplitudes that were not different from wild-type; coexpression with wild-type partially corrected the alterations in activation parameters. Ref.12 Ref.14
VAR_001513
Natural variant4081V → A in EA1; channels have voltage dependence similar to that of wild-type channels but with faster kinetics and increased C-type inactivation. Ref.8 Ref.10
VAR_001514

Experimental info

Mutagenesis35 – 362CC → AA: No effect on palmitoylation, no effect on current kinetics. Ref.7
Mutagenesis2431C → A: Strongly decreases palmitoylation and alters current kinetics. Ref.7
Sequence conflict2651Missing no nucleotide entry Ref.5
Sequence conflict3151L → R no nucleotide entry Ref.5
Sequence conflict4521S → Y in AAA36139. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q09470 [UniParc].

Last modified February 10, 2009. Version 2.
Checksum: 0A1B1AB87BCDDEBA

FASTA49556,466
        10         20         30         40         50         60 
MTVMSGENVD EASAAPGHPQ DGSYPRQADH DDHECCERVV INISGLRFET QLKTLAQFPN 

        70         80         90        100        110        120 
TLLGNPKKRM RYFDPLRNEY FFDRNRPSFD AILYYYQSGG RLRRPVNVPL DMFSEEIKFY 

       130        140        150        160        170        180 
ELGEEAMEKF REDEGFIKEE ERPLPEKEYQ RQVWLLFEYP ESSGPARVIA IVSVMVILIS 

       190        200        210        220        230        240 
IVIFCLETLP ELKDDKDFTG TVHRIDNTTV IYNSNIFTDP FFIVETLCII WFSFELVVRF 

       250        260        270        280        290        300 
FACPSKTDFF KNIMNFIDIV AIIPYFITLG TEIAEQEGNQ KGEQATSLAI LRVIRLVRVF 

       310        320        330        340        350        360 
RIFKLSRHSK GLQILGQTLK ASMRELGLLI FFLFIGVILF SSAVYFAEAE EAESHFSSIP 

       370        380        390        400        410        420 
DAFWWAVVSM TTVGYGDMYP VTIGGKIVGS LCAIAGVLTI ALPVPVIVSN FNYFYHRETE 

       430        440        450        460        470        480 
GEEQAQLLHV SSPNLASDSD LSRRSSSTMS KSEYMEIEED MNNSIAHYRQ VNIRTANCTT 

       490 
ANQNCVNKSK LLTDV 

« Hide

References

« Hide 'large scale' references
[1]"Human potassium channel genes: molecular cloning and functional expression."
Ramaswami M., Gautam M., Kamb A., Rudy B., Tanouye M.A., Mathew M.K.
Mol. Cell. Neurosci. 1:214-223(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Brain.
[2]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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].
Tissue: Brain cortex.
[5]"Cloning and characterization of a cDNA encoding a human brain potassium channel."
Freeman S.N., Conley E.C., Brennand J.C., Russell N.J.W., Brammar W.J.
Biochem. Soc. Trans. 18:891-892(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 263-315.
[6]"Nervous system targets of RNA editing identified by comparative genomics."
Hoopengardner B., Bhalla T., Staber C., Reenan R.
Science 301:832-836(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: RNA EDITING OF POSITION 400.
[7]"The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence."
Gubitosi-Klug R.A., Mancuso D.J., Gross R.W.
Proc. Natl. Acad. Sci. U.S.A. 102:5964-5968(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: PALMITOYLATION AT CYS-243, MUTAGENESIS OF 35-CYS--CYS-36 AND CYS-243.
[8]"Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1."
Browne D.L., Gancher S.T., Nutt J.G., Brunt E.R.P., Smith E.A., Kramer P., Litt M.
Nat. Genet. 8:136-140(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EA1 PHE-174; SER-239; ILE-249 AND ALA-408.
[9]"Identification of two new KCNA1 mutations in episodic ataxia/myokymia families."
Browne D.L., Brunt E.R.P., Griggs R.C., Nutt J.G., Gancher S.T., Smith E.A., Litt M.
Hum. Mol. Genet. 4:1671-1672(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EA1 PHE-174; CYS-184 AND ASP-325.
[10]"Episodic ataxia results from voltage-dependent potassium channels with altered functions."
Adelman J.P., Bond C.T., Pessia M., Maylie J.
Neuron 15:1449-1454(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS EA1 CYS-184; ASP-325 AND ALA-408.
[11]"Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1."
Comu S., Giuliani M., Narayanan V.
Ann. Neurol. 40:684-687(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EA1 MET-226.
[12]"Three novel KCNA1 mutations in episodic ataxia type I families."
Scheffer H., Brunt E.R.P., Mol G.J.J., van der Vlies P., Stulp R.P., Verlind E., Mantel G., Averyanov Y.N., Hofstra R.M.W., Buys C.H.C.M.
Hum. Genet. 102:464-466(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EA1 ARG-177; ALA-226 AND ILE-404.
[13]"A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy."
Zuberi S.M., Eunson L.H., Spauschus A., De Silva R., Tolmie J., Wood N.W., McWilliam R.C., Stephenson J.P.B., Kullmann D.M., Hanna M.G.
Brain 122:817-825(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EA1 ARG-226, CHARACTERIZATION OF VARIANT EA1 ARG-226.
[14]"Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability."
Eunson L.H., Rea R., Zuberi S.M., Youroukos S., Panayiotopoulos C.P., Liguori R., Avoni P., McWilliam R.C., Stephenson J.B.P., Hanna M.G., Kullmann D.M., Spauschus A.
Ann. Neurol. 48:647-656(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MK1 PRO-242 AND HIS-244, VARIANT EA1 ILE-404, CHARACTERIZATION OF VARIANTS MK1 PRO-242 AND HIS-244, CHARACTERIZATION OF VARIANT EA1 ILE-404.
[15]"Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 -- a challenging problem."
Knight M.A., Storey E., McKinlay Gardner R.J., Hand P., Forrest S.M.
Hum. Mutat. 16:374-374(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EA1 ILE-329.
[16]"A novel mutation in KCNA1 causes episodic ataxia without myokymia."
Lee H., Wang H., Jen J.C., Sabatti C., Baloh R.W., Nelson S.F.
Hum. Mutat. 24:536-536(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EA1 ILE-342.
[17]"Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia."
Chen H., von Hehn C., Kaczmarek L.K., Ment L.R., Pober B.R., Hisama F.M.
Neurogenetics 8:131-135(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MK1 LYS-226, CHARACTERIZATION OF VARIANT MK1 LYS-226.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L02750 mRNA. Translation: AAA36139.1.
AC006063 Genomic DNA. No translation available.
CH471116 Genomic DNA. Translation: EAW88833.1.
BC101733 mRNA. Translation: AAI01734.1.
BC112180 mRNA. Translation: AAI12181.1.
PIRI57680.
RefSeqNP_000208.2. NM_000217.2.
UniGeneHs.416139.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2AFLmodel-A/B/C/D326-407[»]
ProteinModelPortalQ09470.
SMRQ09470. Positions 4-419.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109939. 7 interactions.
IntActQ09470. 3 interactions.
MINTMINT-1900397.
STRING9606.ENSP00000228858.

Chemistry

BindingDBQ09470.
ChEMBLCHEMBL2362996.
DrugBankDB01189. Desflurane.
DB00228. Enflurane.
DB00753. Isoflurane.
DB01028. Methoxyflurane.
DB01236. Sevoflurane.
GuidetoPHARMACOLOGY538.

Protein family/group databases

TCDB1.A.1.2.12. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSiteQ09470.

Polymorphism databases

DMDM223590092.

Proteomic databases

PaxDbQ09470.
PRIDEQ09470.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000382545; ENSP00000371985; ENSG00000111262.
GeneID3736.
KEGGhsa:3736.
UCSCuc001qnh.3. human.

Organism-specific databases

CTD3736.
GeneCardsGC12P005019.
HGNCHGNC:6218. KCNA1.
HPACAB022365.
MIM160120. phenotype.
176260. gene.
neXtProtNX_Q09470.
Orphanet37612. Episodic ataxia type 1.
972. Hereditary continuous muscle fiber activity.
199326. Isolated autosomal dominant hypomagnesemia, Glaudemans type.
PharmGKBPA30019.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1226.
HOGENOMHOG000231015.
HOVERGENHBG052230.
InParanoidQ09470.
KOK04874.
OMAEHDDHEC.
OrthoDBEOG7M0NRD.
PhylomeDBQ09470.
TreeFamTF313103.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

BgeeQ09470.
CleanExHS_KCNA1.
GenevestigatorQ09470.

Family and domain databases

Gene3D1.20.120.350. 1 hit.
3.30.710.10. 1 hit.
InterProIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR003091. K_chnl.
IPR003968. K_chnl_volt-dep_Kv.
IPR003972. K_chnl_volt-dep_Kv1.
IPR004048. K_chnl_volt-dep_Kv1.1.
IPR003131. T1-type_BTB.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERPTHR11537. PTHR11537. 1 hit.
PfamPF02214. BTB_2. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view]
PRINTSPR00169. KCHANNEL.
PR01508. KV11CHANNEL.
PR01491. KVCHANNEL.
PR01496. SHAKERCHANEL.
SMARTSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
ProtoNetSearch...

Other

GeneWikiKv1.1.
GenomeRNAi3736.
NextBio14621.
PROQ09470.
SOURCESearch...

Entry information

Entry nameKCNA1_HUMAN
AccessionPrimary (citable) accession number: Q09470
Secondary accession number(s): A6NM83, Q3MIQ9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: February 10, 2009
Last modified: March 19, 2014
This is version 148 of the entry and version 2 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 12

Human chromosome 12: entries, gene names and cross-references to MIM