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O75712

- CXB3_HUMAN

UniProt

O75712 - CXB3_HUMAN

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Protein
Gap junction beta-3 protein
Gene
GJB3, CX31
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. gap junction channel activity Source: UniProtKB

GO - Biological processi

  1. cell communication Source: InterPro
  2. in utero embryonic development Source: Ensembl
  3. placenta development Source: Ensembl
  4. sensory perception of sound Source: Ensembl
  5. skin development Source: Ensembl
  6. transmembrane transport Source: GOC
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: Chromosome 1

Organism-specific databases

HGNCiHGNC:4285. GJB3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei21 – 4020Helical; Reviewed prediction
Add
BLAST
Topological domaini41 – 7535Extracellular Reviewed prediction
Add
BLAST
Transmembranei76 – 9823Helical; Reviewed prediction
Add
BLAST
Topological domaini99 – 12628Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei127 – 14923Helical; Reviewed prediction
Add
BLAST
Topological domaini150 – 18738Extracellular Reviewed prediction
Add
BLAST
Transmembranei188 – 21023Helical; Reviewed prediction
Add
BLAST
Topological domaini211 – 27060Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. connexon complex Source: InterPro
  2. cytoplasm Source: Ensembl
  3. gap junction Source: UniProtKB
  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

Erythrokeratodermia variabilis (EKV) [MIM:133200]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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) [MIM:612644]: A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 nonsyndromic sensorineural deafness type DFNA.
90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
317. Erythrokeratodermia variabilis.
139512. Neuropathy with hearing impairment.
495. Transgrediens et progrediens palmoplantar keratoderma.
PharmGKBiPA28696.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 270270Gap junction beta-3 protein
PRO_0000057862Add
BLAST

Proteomic databases

MaxQBiO75712.
PaxDbiO75712.
PRIDEiO75712.

PTM databases

PhosphoSiteiO75712.

Expressioni

Gene expression databases

ArrayExpressiO75712.
BgeeiO75712.
CleanExiHS_GJB3.
GenevestigatoriO75712.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliO75712.
SMRiO75712. Positions 2-210.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39157.
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

MDWKTLQALL SGVNKYSTAF GRIWLSVVFV FRVLVYVVAA ERVWGDEQKD    50
FDCNTKQPGC TNVCYDNYFP ISNIRLWALQ LIFVTCPSLL VILHVAYREE 100
RERRHRQKHG DQCAKLYDNA GKKHGGLWWT YLFSLIFKLI IEFLFLYLLH 150
TLWHGFNMPR LVQCANVAPC PNIVDCYIAR PTEKKIFTYF MVGASAVCIV 200
LTICELCYLI CHRVLRGLHK DKPRGGCSPS SSASRASTCR CHHKLVEAGE 250
VDPDPGNNKL QASAPNLTPI 270
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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS384.1.
PIRi JE0274.
RefSeqi NP_001005752.1. NM_001005752.1.
NP_076872.1. NM_024009.2.
UniGenei Hs.522561.

3D structure databases

ProteinModelPortali O75712.
SMRi O75712. Positions 2-210.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108973. 3 interactions.
IntActi O75712. 1 interaction.
STRINGi 9606.ENSP00000362460.

Chemistry

GuidetoPHARMACOLOGYi 720.

PTM databases

PhosphoSitei O75712.

Proteomic databases

MaxQBi O75712.
PaxDbi O75712.
PRIDEi O75712.

Protocols and materials databases

DNASUi 2707.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000373362 ; ENSP00000362460 ; ENSG00000188910 .
ENST00000373366 ; ENSP00000362464 ; ENSG00000188910 .
GeneIDi 2707.
KEGGi hsa:2707.
UCSCi uc001bxx.3. human.

Organism-specific databases

CTDi 2707.
GeneCardsi GC01P035246.
GeneReviewsi GJB3.
H-InvDB HIX0000402.
HGNCi HGNC:4285. GJB3.
MIMi 133200. phenotype.
603324. gene+phenotype.
612644. phenotype.
neXtProti NX_O75712.
Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
317. Erythrokeratodermia variabilis.
139512. Neuropathy with hearing impairment.
495. Transgrediens et progrediens palmoplantar keratoderma.
PharmGKBi PA28696.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39157.
HOGENOMi HOG000231127.
HOVERGENi HBG009576.
InParanoidi O75712.
KOi K07622.
OMAi HTLWHGF.
OrthoDBi EOG7P2XSS.
PhylomeDBi O75712.
TreeFami TF329606.

Enzyme and pathway databases

Reactomei REACT_9509. Gap junction assembly.

Miscellaneous databases

ChiTaRSi GJB3. human.
GeneWikii GJB3.
GenomeRNAii 2707.
NextBioi 10702.
PROi O75712.
SOURCEi Search...

Gene expression databases

ArrayExpressi O75712.
Bgeei O75712.
CleanExi HS_GJB3.
Genevestigatori O75712.

Family and domain databases

InterProi IPR000500. Connexin.
IPR002269. Connexin31.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view ]
PANTHERi PTHR11984. PTHR11984. 1 hit.
PTHR11984:SF29. PTHR11984:SF29. 1 hit.
Pfami PF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view ]
PRINTSi PR00206. CONNEXIN.
PR01140. CONNEXINB3.
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. "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: September 3, 2014
This is version 138 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

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