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Protein

Gap junction beta-3 protein

Gene

GJB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • gap junction channel activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction beta-3 protein
Alternative name(s):
Connexin-31
Short name:
Cx31
Gene namesi
Name:GJB3
Synonyms:CX31
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:4285. GJB3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei21 – 4020HelicalSequence AnalysisAdd
BLAST
Topological domaini41 – 7535ExtracellularSequence AnalysisAdd
BLAST
Transmembranei76 – 9823HelicalSequence AnalysisAdd
BLAST
Topological domaini99 – 12628CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei127 – 14923HelicalSequence AnalysisAdd
BLAST
Topological domaini150 – 18738ExtracellularSequence AnalysisAdd
BLAST
Transmembranei188 – 21023HelicalSequence AnalysisAdd
BLAST
Topological domaini211 – 27060CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • connexon complex Source: InterPro
  • cytoplasm Source: Ensembl
  • gap junction Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Erythrokeratodermia variabilis (EKV)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA genodermatosis characterized by the appearance of two independent skin lesions: transient figurate erythematous patches and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.

See also OMIM:133200
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121G → D in EKV. 1 Publication
VAR_002147
Natural varianti12 – 121G → R in EKV. 1 Publication
VAR_002148
Natural varianti42 – 421R → P in EKV. 2 Publications
VAR_015085
Natural varianti86 – 861C → S in EKV. 1 Publication
VAR_002149
Natural varianti137 – 1371F → L in EKV. 1 Publication
VAR_015086
Deafness, autosomal dominant, 2B (DFNA2B)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.

See also OMIM:612644
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti141 – 1411I → V in DFNA2B.
VAR_015087
Natural varianti183 – 1831E → K in DFNA2B. 1 Publication
Corresponds to variant rs74315318 [ dbSNP | Ensembl ].
VAR_002150

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness, Palmoplantar keratoderma

Organism-specific databases

MIMi133200. phenotype.
603324. gene+phenotype.
612644. phenotype.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
317. Erythrokeratodermia variabilis.
139512. Neuropathy with hearing impairment.
PharmGKBiPA28696.

Polymorphism and mutation databases

BioMutaiGJB3.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 270270Gap junction beta-3 proteinPRO_0000057862Add
BLAST

Proteomic databases

MaxQBiO75712.
PaxDbiO75712.
PRIDEiO75712.

PTM databases

PhosphoSiteiO75712.

Expressioni

Gene expression databases

BgeeiO75712.
CleanExiHS_GJB3.
GenevisibleiO75712. HS.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).By similarity

Protein-protein interaction databases

BioGridi108973. 3 interactions.
IntActiO75712. 1 interaction.
STRINGi9606.ENSP00000362460.

Structurei

3D structure databases

ProteinModelPortaliO75712.
SMRiO75712. Positions 2-210.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39157.
GeneTreeiENSGT00760000118780.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiO75712.
KOiK07622.
OMAiHTLWHGF.
OrthoDBiEOG7P2XSS.
PhylomeDBiO75712.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002269. Connexin31.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PTHR11984:SF29. PTHR11984:SF29. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01140. CONNEXINB3.
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.

O75712-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDWKTLQALL SGVNKYSTAF GRIWLSVVFV FRVLVYVVAA ERVWGDEQKD
60 70 80 90 100
FDCNTKQPGC TNVCYDNYFP ISNIRLWALQ LIFVTCPSLL VILHVAYREE
110 120 130 140 150
RERRHRQKHG DQCAKLYDNA GKKHGGLWWT YLFSLIFKLI IEFLFLYLLH
160 170 180 190 200
TLWHGFNMPR LVQCANVAPC PNIVDCYIAR PTEKKIFTYF MVGASAVCIV
210 220 230 240 250
LTICELCYLI CHRVLRGLHK DKPRGGCSPS SSASRASTCR CHHKLVEAGE
260 270
VDPDPGNNKL QASAPNLTPI
Length:270
Mass (Da):30,818
Last modified:November 1, 1998 - v1
Checksum:iE46D36E5835646A4
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121G → D in EKV. 1 Publication
VAR_002147
Natural varianti12 – 121G → R in EKV. 1 Publication
VAR_002148
Natural varianti32 – 321R → W.4 Publications
Corresponds to variant rs1805063 [ dbSNP | Ensembl ].
VAR_011978
Natural varianti42 – 421R → P in EKV. 2 Publications
VAR_015085
Natural varianti86 – 861C → S in EKV. 1 Publication
VAR_002149
Natural varianti137 – 1371F → L in EKV. 1 Publication
VAR_015086
Natural varianti141 – 1411I → V in DFNA2B.
VAR_015087
Natural varianti183 – 1831E → K in DFNA2B. 1 Publication
Corresponds to variant rs74315318 [ dbSNP | Ensembl ].
VAR_002150
Natural varianti200 – 2001V → I.2 Publications
Corresponds to variant rs61734064 [ dbSNP | Ensembl ].
VAR_022423

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ004856 Genomic DNA. Translation: CAA06165.1.
AF052692 mRNA. Translation: AAD11816.1.
AF099730 Genomic DNA. Translation: AAC95471.1.
AK312890 mRNA. Translation: BAG35737.1.
AL121988 Genomic DNA. Translation: CAB90269.1.
CH471059 Genomic DNA. Translation: EAX07442.1.
BC012918 mRNA. Translation: AAH12918.1.
BC110640 mRNA. Translation: AAI10641.1.
CCDSiCCDS384.1.
PIRiJE0274.
RefSeqiNP_001005752.1. NM_001005752.1.
NP_076872.1. NM_024009.2.
UniGeneiHs.522561.

Genome annotation databases

EnsembliENST00000373362; ENSP00000362460; ENSG00000188910.
ENST00000373366; ENSP00000362464; ENSG00000188910.
GeneIDi2707.
KEGGihsa:2707.
UCSCiuc001bxx.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Connexin-deafness homepage
Hereditary hearing loss homepage

Gene page

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ004856 Genomic DNA. Translation: CAA06165.1.
AF052692 mRNA. Translation: AAD11816.1.
AF099730 Genomic DNA. Translation: AAC95471.1.
AK312890 mRNA. Translation: BAG35737.1.
AL121988 Genomic DNA. Translation: CAB90269.1.
CH471059 Genomic DNA. Translation: EAX07442.1.
BC012918 mRNA. Translation: AAH12918.1.
BC110640 mRNA. Translation: AAI10641.1.
CCDSiCCDS384.1.
PIRiJE0274.
RefSeqiNP_001005752.1. NM_001005752.1.
NP_076872.1. NM_024009.2.
UniGeneiHs.522561.

3D structure databases

ProteinModelPortaliO75712.
SMRiO75712. Positions 2-210.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108973. 3 interactions.
IntActiO75712. 1 interaction.
STRINGi9606.ENSP00000362460.

Chemistry

GuidetoPHARMACOLOGYi720.

PTM databases

PhosphoSiteiO75712.

Polymorphism and mutation databases

BioMutaiGJB3.

Proteomic databases

MaxQBiO75712.
PaxDbiO75712.
PRIDEiO75712.

Protocols and materials databases

DNASUi2707.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373362; ENSP00000362460; ENSG00000188910.
ENST00000373366; ENSP00000362464; ENSG00000188910.
GeneIDi2707.
KEGGihsa:2707.
UCSCiuc001bxx.3. human.

Organism-specific databases

CTDi2707.
GeneCardsiGC01P035246.
GeneReviewsiGJB3.
H-InvDBHIX0000402.
HGNCiHGNC:4285. GJB3.
MIMi133200. phenotype.
603324. gene+phenotype.
612644. phenotype.
neXtProtiNX_O75712.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
317. Erythrokeratodermia variabilis.
139512. Neuropathy with hearing impairment.
PharmGKBiPA28696.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG39157.
GeneTreeiENSGT00760000118780.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiO75712.
KOiK07622.
OMAiHTLWHGF.
OrthoDBiEOG7P2XSS.
PhylomeDBiO75712.
TreeFamiTF329606.

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

Miscellaneous databases

ChiTaRSiGJB3. human.
GeneWikiiGJB3.
GenomeRNAii2707.
NextBioi10702.
PROiO75712.
SOURCEiSearch...

Gene expression databases

BgeeiO75712.
CleanExiHS_GJB3.
GenevisibleiO75712. HS.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002269. Connexin31.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PTHR11984:SF29. PTHR11984:SF29. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01140. CONNEXINB3.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Human gap junction protein connexin31: molecular cloning and expression analysis."
    Wenzel K., Manthey D., Willecke K., Grzeschik K.-H., Traub O.
    Biochem. Biophys. Res. Commun. 248:910-915(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Placenta.
  2. "Molecular cloning of human connexin 31 and 31.1 genes."
    Xia J.-H., Pan Q., Liu C.-Y., Zheng D., Xie W.
    Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis."
    Richard G., Smith L.E., Bailey R.A., Itin P., Hohl D., Epstein E.H. Jr., DiGiovanna J.J., Compton J.G., Bale S.J.
    Nat. Genet. 20:366-369(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS EKV ASP-12; ARG-12 AND SER-86.
  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.
    , 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].
    Tissue: Cerebellum.
  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. 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], VARIANT TRP-32.
    Tissue: Skin and Urinary bladder.
  8. "Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment."
    Xia J.-H., Liu C.-Y., Tang B.S., Pan Q., Huang L., Dai H.P., Zhang B.R., Xie W., Hu D.X., Zheng D., Shi X.L., Wang D.A., Xia K., Yu K.P., Liao X.D., Feng Y., Yang Y.F., Xiao J.Y., Xie D.H., Huang J.Z.
    Nat. Genet. 20:370-373(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA2B LYS-183.
  9. "Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis."
    Wilgoss A., Leigh I.M., Barnes M.R., Dopping-Hepenstal P., Eady R.A.J., Walter J.M., Kennedy C.T., Kelsell D.P.
    J. Invest. Dermatol. 113:1119-1122(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EKV PRO-42.
  10. "Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family."
    Kelsell D.P., Wilgoss A.L., Richard G., Stevens H.P., Munro C.S., Leigh I.M.
    Eur. J. Hum. Genet. 8:141-144(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TRP-32.
  11. "The spectrum of mutations in erythrokeratodermias -- novel and de novo mutations in GJB3."
    Richard G., Brown N., Smith L.E., Terrinoni A., Melino G., Mackie R.M., Bale S.J., Uitto J.
    Hum. Genet. 106:321-329(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EKV PRO-42 AND LEU-137.
  12. "Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene."
    Lopez-Bigas N., Rabionet R., Martinez E., Banchs I., Volpini V., Vance J.M., Arbones M.L., Estivill X.
    Hum. Mutat. 15:481-482(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TRP-32 AND ILE-200.
  13. "Connexin mutations in Brazilian patients with skin disorders with or without hearing loss."
    Alexandrino F., de Oliveira C.A., Magalhaes R.F., Florence M.E., de Souza E.M., Sartorato E.L.
    Am. J. Med. Genet. A 149:681-684(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TRP-32 AND ILE-200.

Entry informationi

Entry nameiCXB3_HUMAN
AccessioniPrimary (citable) accession number: O75712
Secondary accession number(s): B2R790, Q2TAZ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 1, 1998
Last modified: June 24, 2015
This is version 145 of the entry and version 1 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.