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P48165

- CXA8_HUMAN

UniProt

P48165 - CXA8_HUMAN

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Protein
Gap junction alpha-8 protein
Gene
GJA8
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

GO - Molecular functioni

  1. channel activity Source: ProtInc

GO - Biological processi

  1. cell-cell signaling Source: Ensembl
  2. lens development in camera-type eye Source: Ensembl
  3. protein homooligomerization Source: Ensembl
  4. transmembrane transport Source: GOC
  5. transport Source: ProtInc
  6. visual perception Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

Protein family/group databases

TCDBi1.A.24.1.5. the gap junction-forming connexin (connexin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction alpha-8 protein
Alternative name(s):
Connexin-50
Short name:
Cx50
Lens fiber protein MP70
Gene namesi
Name:GJA8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:4281. GJA8.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 2322Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei24 – 4623Helical; Reviewed prediction
Add
BLAST
Topological domaini47 – 7630Extracellular Reviewed prediction
Add
BLAST
Transmembranei77 – 9923Helical; Reviewed prediction
Add
BLAST
Topological domaini100 – 15051Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei151 – 17323Helical; Reviewed prediction
Add
BLAST
Topological domaini174 – 20431Extracellular Reviewed prediction
Add
BLAST
Transmembranei205 – 22723Helical; Reviewed prediction
Add
BLAST
Topological domaini228 – 433206Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. connexon complex Source: ProtInc
  2. integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Cataract 1, multiple types (CTRCT1) [MIM:116200]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.
Note: The disease is caused by mutations affecting the gene represented in this entry.11 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231R → T in CTRCT1; nuclear progressive cataract. 1 Publication
VAR_038797
Natural varianti44 – 441V → E in CTRCT1; cataract with microcornea. 1 Publication
VAR_038798
Natural varianti47 – 471D → N in CTRCT1; incomplete penetrance; results in loss of function. 3 Publications
VAR_069579
Natural varianti48 – 481E → K in CTRCT1; zonular pulverulent. 1 Publication
VAR_038799
Natural varianti64 – 641V → G in CTRCT1; zonular pulverulent and nuclear progressive cataract. 2 Publications
VAR_037642
Natural varianti67 – 671D → G in CTRCT1. 1 Publication
VAR_070021
Natural varianti76 – 761R → C in CTRCT1. 1 Publication
VAR_070022
Natural varianti88 – 881P → S in CTRCT1; zonular pulverulent. 1 Publication
VAR_002005
Natural varianti198 – 1981R → Q in CTRCT1; cataract with microcornea. 1 Publication
VAR_038800

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MIMi116200. phenotype.
Orphaneti1377. Cataract-microcornea syndrome.
98984. Pulverulent cataract.
PharmGKBiPA28692.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 433432Gap junction alpha-8 protein
PRO_0000057830Add
BLAST

Proteomic databases

PaxDbiP48165.
PRIDEiP48165.

PTM databases

PhosphoSiteiP48165.

Expressioni

Tissue specificityi

Eye lens.

Gene expression databases

BgeeiP48165.
CleanExiHS_GJA8.
GenevestigatoriP48165.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins. This particular connexin only forms junctional channels.

Protein-protein interaction databases

BioGridi108970. 1 interaction.
STRINGi9606.ENSP00000240986.

Structurei

3D structure databases

ProteinModelPortaliP48165.
SMRiP48165. Positions 3-227.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG299365.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiP48165.
KOiK07617.
OMAiKPFSQFE.
OrthoDBiEOG7P2XSS.
PhylomeDBiP48165.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002266. Connexin50.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF03509. Connexin50. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01137. CONNEXINA8.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P48165-1 [UniParc]FASTAAdd to Basket

« Hide

MGDWSFLGNI LEEVNEHSTV IGRVWLTVLF IFRILILGTA AEFVWGDEQS    50
DFVCNTQQPG CENVCYDEAF PISHIRLWVL QIIFVSTPSL MYVGHAVHYV 100
RMEEKRKSRE AEELGQQAGT NGGPDQGSVK KSSGSKGTKK FRLEGTLLRT 150
YICHIIFKTL FEVGFIVGHY FLYGFRILPL YRCSRWPCPN VVDCFVSRPT 200
EKTIFILFML SVASVSLFLN VMELGHLGLK GIRSALKRPV EQPLGEIPEK 250
SLHSIAVSSI QKAKGYQLLE EEKIVSHYFP LTEVGMVETS PLPAKPFNQF 300
EEKISTGPLG DLSRGYQETL PSYAQVGAQE VEGEGPPAEE GAEPEVGEKK 350
EEAERLTTEE QEKVAVPEGE KVETPGVDKE GEKEEPQSEK VSKQGLPAEK 400
TPSLCPELTT DDARPLSRLS KASSRARSDD LTV 433
Length:433
Mass (Da):48,229
Last modified:January 23, 2007 - v3
Checksum:iD2BF6CD1C8768636
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231R → T in CTRCT1; nuclear progressive cataract. 1 Publication
VAR_038797
Natural varianti44 – 441V → E in CTRCT1; cataract with microcornea. 1 Publication
VAR_038798
Natural varianti47 – 471D → N in CTRCT1; incomplete penetrance; results in loss of function. 3 Publications
VAR_069579
Natural varianti48 – 481E → K in CTRCT1; zonular pulverulent. 1 Publication
VAR_038799
Natural varianti64 – 641V → G in CTRCT1; zonular pulverulent and nuclear progressive cataract. 2 Publications
VAR_037642
Natural varianti67 – 671D → G in CTRCT1. 1 Publication
VAR_070021
Natural varianti76 – 761R → C in CTRCT1. 1 Publication
VAR_070022
Natural varianti88 – 881P → S in CTRCT1; zonular pulverulent. 1 Publication
VAR_002005
Natural varianti198 – 1981R → Q in CTRCT1; cataract with microcornea. 1 Publication
VAR_038800
Natural varianti247 – 2471I → M Neutral polymorphism originally found in a family with cataract; does not affect gap junctions formation and gap junctional currents. 3 Publications
Corresponds to variant rs80358202 [ dbSNP | Ensembl ].
VAR_038801

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti110 – 1112EA → D in AAA77062. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U34802 Genomic DNA. Translation: AAA77062.1.
AF217524 Genomic DNA. Translation: AAF32309.1.
EF672108 Genomic DNA. Translation: ABS11172.1.
AL445591 Genomic DNA. Translation: CAH72387.1.
CCDSiCCDS30834.1.
PIRiI39176.
RefSeqiNP_005258.2. NM_005267.4.
UniGeneiHs.632441.

Genome annotation databases

EnsembliENST00000240986; ENSP00000240986; ENSG00000121634.
ENST00000369235; ENSP00000358238; ENSG00000121634.
ENST00000578156; ENSP00000462620; ENSG00000264499.
ENST00000583918; ENSP00000462853; ENSG00000264499.
GeneIDi2703.
KEGGihsa:2703.
UCSCiuc001epu.2. human.

Polymorphism databases

DMDMi13124697.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Eye disease Gap junction protein, alpha 8 (GJA8)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U34802 Genomic DNA. Translation: AAA77062.1 .
AF217524 Genomic DNA. Translation: AAF32309.1 .
EF672108 Genomic DNA. Translation: ABS11172.1 .
AL445591 Genomic DNA. Translation: CAH72387.1 .
CCDSi CCDS30834.1.
PIRi I39176.
RefSeqi NP_005258.2. NM_005267.4.
UniGenei Hs.632441.

3D structure databases

ProteinModelPortali P48165.
SMRi P48165. Positions 3-227.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108970. 1 interaction.
STRINGi 9606.ENSP00000240986.

Chemistry

GuidetoPHARMACOLOGYi 732.

Protein family/group databases

TCDBi 1.A.24.1.5. the gap junction-forming connexin (connexin) family.

PTM databases

PhosphoSitei P48165.

Polymorphism databases

DMDMi 13124697.

Proteomic databases

PaxDbi P48165.
PRIDEi P48165.

Protocols and materials databases

DNASUi 2703.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000240986 ; ENSP00000240986 ; ENSG00000121634 .
ENST00000369235 ; ENSP00000358238 ; ENSG00000121634 .
ENST00000578156 ; ENSP00000462620 ; ENSG00000264499 .
ENST00000583918 ; ENSP00000462853 ; ENSG00000264499 .
GeneIDi 2703.
KEGGi hsa:2703.
UCSCi uc001epu.2. human.

Organism-specific databases

CTDi 2703.
GeneCardsi GC01P147374.
HGNCi HGNC:4281. GJA8.
MIMi 116200. phenotype.
600897. gene.
neXtProti NX_P48165.
Orphaneti 1377. Cataract-microcornea syndrome.
98984. Pulverulent cataract.
PharmGKBi PA28692.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG299365.
HOGENOMi HOG000231127.
HOVERGENi HBG009576.
InParanoidi P48165.
KOi K07617.
OMAi KPFSQFE.
OrthoDBi EOG7P2XSS.
PhylomeDBi P48165.
TreeFami TF329606.

Enzyme and pathway databases

Reactomei REACT_9509. Gap junction assembly.

Miscellaneous databases

GeneWikii GJA8.
GenomeRNAii 2703.
NextBioi 10688.
PROi P48165.
SOURCEi Search...

Gene expression databases

Bgeei P48165.
CleanExi HS_GJA8.
Genevestigatori P48165.

Family and domain databases

InterProi IPR000500. Connexin.
IPR002266. Connexin50.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view ]
PANTHERi PTHR11984. PTHR11984. 1 hit.
Pfami PF00029. Connexin. 1 hit.
PF03509. Connexin50. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view ]
PRINTSi PR00206. CONNEXIN.
PR01137. CONNEXINA8.
SMARTi SM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view ]
PROSITEi PS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping."
    Church R.L., Wang J.-H., Steele E.
    Curr. Eye Res. 14:215-221(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Lens.
  2. Erratum
    Church R.L., Wang J.-H., Steele E.
    Curr. Eye Res. 14:979-981(1995) [PubMed] [Europe PMC] [Abstract]
  3. Mackay D., Shiels A.
    Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family in the Northeast of China."
    Zheng J.Q., Ma Z.W., Sun H.M., Lin Y., Liu P., Fu S.B., Liu S.W.
    Submitted (JUN-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT CTRCT1 GLY-64.
  5. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q."
    Shiels A., Mackay D., Ionides A., Berry V., Moore A., Bhattacharya S.
    Am. J. Hum. Genet. 62:526-532(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CTRCT1 SER-88.
  7. "Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin."
    Berry V., Mackay D., Khaliq S., Francis P.J., Hameed A., Anwar K., Mehdi S.Q., Newbold R.J., Ionides A., Shiels A., Moore T., Bhattacharya S.S.
    Hum. Genet. 105:168-170(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CTRCT1 LYS-48.
  8. "Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract."
    Polyakov A.V., Shagina I.A., Khlebnikova O.V., Evgrafov O.V.
    Clin. Genet. 60:476-478(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MET-247, INVOLVEMENT IN CTRCT1.
  9. "A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract."
    Willoughby C.E., Arab S., Gandhi R., Zeinali S., Arab S., Luk D., Billingsley G., Munier F.L., Heon E.
    J. Med. Genet. 40:E124-E124(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CTRCT1 THR-23.
  10. "Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract."
    Ma Z.W., Zheng J.Q., Li J., Li X.R., Tang X., Yuan X.Y., Zhang X.M., Sun H.M.
    Br. J. Ophthalmol. 89:1535-1537(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CTRCT1 GLY-64.
  11. Erratum
    Ma Z.W., Zheng J.Q., Li J., Li X.R., Tang X., Yuan X.Y., Zhang X.M., Sun H.M.
    Br. J. Ophthalmol. 90:125-125(2006)
  12. "Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea."
    Devi R.R., Vijayalakshmi P.
    Mol. Vis. 12:190-195(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CTRCT1 GLU-44 AND GLN-198.
  13. "A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts."
    Arora A., Minogue P.J., Liu X., Addison P.K., Russel-Eggitt I., Webster A.R., Hunt D.M., Ebihara L., Beyer E.C., Berthoud V.M., Moore A.T.
    J. Med. Genet. 45:155-160(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CTRCT1 ASN-47, CHARACTERIZATION OF VARIANT CTRCT1 ASN-47.
  14. "The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation."
    Graw J., Schmidt W., Minogue P.J., Rodriguez J., Tong J.J., Klopp N., Illig T., Ebihara L., Berthoud V.M., Beyer E.C.
    Mol. Vis. 15:1881-1885(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MET-247, CHARACTERIZATION OF VARIANT MET-247.
  15. "Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract."
    Wang L., Luo Y., Wen W., Zhang S., Lu Y.
    Mol. Vis. 17:2380-2385(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CTRCT1 ASN-47.
  16. "Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract."
    He W., Li X., Chen J., Xu L., Zhang F., Dai Q., Cui H., Wang D.M., Yu J., Hu S., Lu S.
    Ophthalmic Genet. 32:48-53(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CTRCT1 ASN-47, CHARACTERIZATION OF VARIANT CTRCT1 ASN-47.
  17. "Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes."
    Reis L.M., Tyler R.C., Muheisen S., Raggio V., Salviati L., Han D.P., Costakos D., Yonath H., Hall S., Power P., Semina E.V.
    Hum. Genet. 132:761-770(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CTRCT1 GLY-67 AND CYS-76, VARIANT MET-247.

Entry informationi

Entry nameiCXA8_HUMAN
AccessioniPrimary (citable) accession number: P48165
Secondary accession number(s): A7L5M5, Q5VVN9, Q9NP25
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 135 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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

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