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Protein

Gap junction beta-6 protein

Gene

GJB6

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 - Biological processi

  1. aging Source: Ensembl
  2. apoptotic process Source: Ensembl
  3. cell communication Source: InterPro
  4. cellular response to glucose stimulus Source: Ensembl
  5. ear morphogenesis Source: Ensembl
  6. inner ear development Source: Ensembl
  7. negative regulation of cell proliferation Source: Ensembl
  8. response to electrical stimulus Source: Ensembl
  9. response to lipopolysaccharide Source: Ensembl
  10. sensory perception of sound Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Hearing

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction beta-6 protein
Alternative name(s):
Connexin-30
Short name:
Cx30
Gene namesi
Name:GJB6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:4288. GJB6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2222CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei23 – 4523HelicalSequence AnalysisAdd
BLAST
Topological domaini46 – 7530ExtracellularSequence AnalysisAdd
BLAST
Transmembranei76 – 9823HelicalSequence AnalysisAdd
BLAST
Topological domaini99 – 13133CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei132 – 15423HelicalSequence AnalysisAdd
BLAST
Topological domaini155 – 19238ExtracellularSequence AnalysisAdd
BLAST
Transmembranei193 – 21523HelicalSequence AnalysisAdd
BLAST
Topological domaini216 – 26146CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. connexon complex Source: InterPro
  3. cytosol Source: Ensembl
  4. 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

Ectodermal dysplasia 2, Clouston type (ECTD2)2 Publications

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

Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases.

See also OMIM:129500
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111G → R in ECTD2. 1 Publication
VAR_015696
Natural varianti37 – 371V → E in ECTD2. 1 Publication
VAR_016838
Natural varianti88 – 881A → V in ECTD2. 1 Publication
Corresponds to variant rs28937872 [ dbSNP | Ensembl ].
VAR_015697
Deafness, autosomal recessive, 1B (DFNB1B)2 Publications

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

Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

See also OMIM:612645
Deafness, autosomal dominant, 3B (DFNA3B)1 Publication

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

Disease descriptionA form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

See also OMIM:612643
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51T → M in DFNA3B. 1 Publication
VAR_008711

Keywords - Diseasei

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

Organism-specific databases

MIMi129500. phenotype.
612643. phenotype.
612645. phenotype.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
189. Hidrotic ectodermal dysplasia.
477. KID syndrome.
PharmGKBiPA28699.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 261261Gap junction beta-6 proteinPRO_0000057871Add
BLAST

Proteomic databases

PaxDbiO95452.
PRIDEiO95452.

Expressioni

Gene expression databases

BgeeiO95452.
CleanExiHS_GJB6.
ExpressionAtlasiO95452. baseline and differential.
GenevestigatoriO95452.

Organism-specific databases

HPAiHPA014846.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi116018. 1 interaction.
STRINGi9606.ENSP00000241124.

Structurei

3D structure databases

ProteinModelPortaliO95452.
SMRiO95452. Positions 2-216.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39645.
GeneTreeiENSGT00760000118780.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiO95452.
KOiK07625.
OMAiQTQRNHP.
OrthoDBiEOG7P2XSS.
PhylomeDBiO95452.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
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.

O95452-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDWGTLHTFI GGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED
60 70 80 90 100
FVCNTLQPGC KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH
110 120 130 140 150
ETTRKFRRGE KRNDFKDIED IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF
160 170 180 190 200
MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC FISRPTEKTV FTIFMISASV
210 220 230 240 250
ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK QNEMNELISD
260
SGQNAITGFP S
Length:261
Mass (Da):30,387
Last modified:September 18, 2003 - v2
Checksum:i394A2D97E08EEB43
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti11 – 111G → E in AAV67951 (PubMed:15792634).Curated
Sequence conflicti124 – 1241Q → H in CAA06611 (PubMed:10471490).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51T → M in DFNA3B. 1 Publication
VAR_008711
Natural varianti11 – 111G → R in ECTD2. 1 Publication
VAR_015696
Natural varianti37 – 371V → E in ECTD2. 1 Publication
VAR_016838
Natural varianti59 – 591G → R Found in one patient with a syndrome resembling Vohwinkel and Bart-Pumphrey syndromes. 1 Publication
VAR_057960
Natural varianti88 – 881A → V in ECTD2. 1 Publication
Corresponds to variant rs28937872 [ dbSNP | Ensembl ].
VAR_015697
Natural varianti139 – 1391S → G.1 Publication
VAR_022424
Natural varianti159 – 1591N → S.
Corresponds to variant rs35277762 [ dbSNP | Ensembl ].
VAR_048825
Natural varianti199 – 1991S → T.1 Publication
Corresponds to variant rs111033338 [ dbSNP | Ensembl ].
VAR_022425

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ005585 Genomic DNA. Translation: CAA06611.1.
AY297110 mRNA. Translation: AAP51162.1.
AK289592 mRNA. Translation: BAF82281.1.
AK075247 mRNA. Translation: BAG52094.1.
AL355984 Genomic DNA. Translation: CAI14832.1.
CH471075 Genomic DNA. Translation: EAX08254.1.
BC038934 mRNA. Translation: AAH38934.1.
AY789474 mRNA. Translation: AAV67951.1.
AY789475 mRNA. Translation: AAV67952.1.
AY789476 mRNA. Translation: AAV67953.1.
CCDSiCCDS9291.1.
RefSeqiNP_001103689.1. NM_001110219.2.
NP_001103690.1. NM_001110220.2.
NP_001103691.1. NM_001110221.2.
NP_006774.2. NM_006783.4.
UniGeneiHs.511757.

Genome annotation databases

EnsembliENST00000241124; ENSP00000241124; ENSG00000121742.
ENST00000356192; ENSP00000348521; ENSG00000121742.
ENST00000400065; ENSP00000382938; ENSG00000121742.
ENST00000400066; ENSP00000382939; ENSG00000121742.
GeneIDi10804.
KEGGihsa:10804.
UCSCiuc001umz.4. 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
AJ005585 Genomic DNA. Translation: CAA06611.1.
AY297110 mRNA. Translation: AAP51162.1.
AK289592 mRNA. Translation: BAF82281.1.
AK075247 mRNA. Translation: BAG52094.1.
AL355984 Genomic DNA. Translation: CAI14832.1.
CH471075 Genomic DNA. Translation: EAX08254.1.
BC038934 mRNA. Translation: AAH38934.1.
AY789474 mRNA. Translation: AAV67951.1.
AY789475 mRNA. Translation: AAV67952.1.
AY789476 mRNA. Translation: AAV67953.1.
CCDSiCCDS9291.1.
RefSeqiNP_001103689.1. NM_001110219.2.
NP_001103690.1. NM_001110220.2.
NP_001103691.1. NM_001110221.2.
NP_006774.2. NM_006783.4.
UniGeneiHs.511757.

3D structure databases

ProteinModelPortaliO95452.
SMRiO95452. Positions 2-216.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116018. 1 interaction.
STRINGi9606.ENSP00000241124.

Chemistry

GuidetoPHARMACOLOGYi717.

Proteomic databases

PaxDbiO95452.
PRIDEiO95452.

Protocols and materials databases

DNASUi10804.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000241124; ENSP00000241124; ENSG00000121742.
ENST00000356192; ENSP00000348521; ENSG00000121742.
ENST00000400065; ENSP00000382938; ENSG00000121742.
ENST00000400066; ENSP00000382939; ENSG00000121742.
GeneIDi10804.
KEGGihsa:10804.
UCSCiuc001umz.4. human.

Organism-specific databases

CTDi10804.
GeneCardsiGC13M020796.
GeneReviewsiGJB6.
HGNCiHGNC:4288. GJB6.
HPAiHPA014846.
MIMi129500. phenotype.
604418. gene.
612643. phenotype.
612645. phenotype.
neXtProtiNX_O95452.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
189. Hidrotic ectodermal dysplasia.
477. KID syndrome.
PharmGKBiPA28699.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG39645.
GeneTreeiENSGT00760000118780.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiO95452.
KOiK07625.
OMAiQTQRNHP.
OrthoDBiEOG7P2XSS.
PhylomeDBiO95452.
TreeFamiTF329606.

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

Miscellaneous databases

GeneWikiiGJB6.
GenomeRNAii10804.
NextBioi41041.
PROiO95452.
SOURCEiSearch...

Gene expression databases

BgeeiO95452.
CleanExiHS_GJB6.
ExpressionAtlasiO95452. baseline and differential.
GenevestigatoriO95452.

Family and domain databases

InterProiIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
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. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT DFNA3B MET-5.
  2. "Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12."
    Kelley P.M., Abe S., Askew J.W., Smith S.D., Usami S., Kimberling W.J.
    Genomics 62:172-176(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-139 AND THR-199.
  3. "Human connexin30, updated ORF."
    Enriquez A.D., Scherer S.S.
    Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Corpus callosum.
  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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain cortex.
  5. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Thyroid.
  6. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  9. "Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30."
    Essenfelder G.M., Larderet G., Waksman G., Lamartine J.
    Gene 350:33-40(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-40, GENE STRUCTURE.
    Tissue: Hair follicle.
  10. Cited for: INVOLVEMENT IN DFNB1B.
  11. Cited for: INVOLVEMENT IN DFNB1B.
  12. Cited for: VARIANTS ECTD2 ARG-11 AND VAL-88.
  13. "A novel connexin 30 mutation in Clouston syndrome."
    Smith F.J., Morley S.M., McLean W.H.I.
    J. Invest. Dermatol. 118:530-532(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ECTD2 GLU-37.
  14. "Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss."
    Nemoto-Hasebe I., Akiyama M., Kudo S., Ishiko A., Tanaka A., Arita K., Shimizu H.
    Br. J. Dermatol. 161:452-455(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARG-59.

Entry informationi

Entry nameiCXB6_HUMAN
AccessioniPrimary (citable) accession number: O95452
Secondary accession number(s): B3KQN2
, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 14, 1999
Last sequence update: September 18, 2003
Last modified: January 6, 2015
This is version 130 of the entry and version 2 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 13
    Human chromosome 13: 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.