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Protein

Putative Polycomb group protein ASXL3

Gene

ASXL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri2210 – 224738PHD-type; atypicalAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Putative Polycomb group protein ASXL3
Alternative name(s):
Additional sex combs-like protein 3
Gene namesi
Name:ASXL3
Synonyms:KIAA1713
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:29357. ASXL3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Bainbridge-Ropers syndrome (BRPS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands.
See also OMIM:615485

Organism-specific databases

MalaCardsiASXL3.
MIMi615485. phenotype.
Orphaneti352577. Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency.
PharmGKBiPA162377010.

Polymorphism and mutation databases

BioMutaiASXL3.
DMDMi172046234.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 22482248Putative Polycomb group protein ASXL3PRO_0000320670Add
BLAST

Proteomic databases

EPDiQ9C0F0.
PaxDbiQ9C0F0.
PRIDEiQ9C0F0.

PTM databases

iPTMnetiQ9C0F0.

Expressioni

Tissue specificityi

Expressed in pancreatic islets, testis, neuroblastoma, head and neck tumor.1 Publication

Gene expression databases

BgeeiQ9C0F0.
CleanExiHS_ASXL3.
ExpressionAtlasiQ9C0F0. baseline and differential.
GenevisibleiQ9C0F0. HS.

Organism-specific databases

HPAiHPA039539.
HPA040034.

Interactioni

Protein-protein interaction databases

BioGridi123314. 2 interactions.
STRINGi9606.ENSP00000269197.

Structurei

3D structure databases

ProteinModelPortaliQ9C0F0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi609 – 787179Ser-richAdd
BLAST
Compositional biasi1051 – 108030Ala-richAdd
BLAST
Compositional biasi1199 – 1357159Ser-richAdd
BLAST
Compositional biasi2017 – 205842Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the Asx family.Curated
Contains 1 PHD-type zinc finger.Curated

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri2210 – 224738PHD-type; atypicalAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IIF3. Eukaryota.
ENOG4111F3G. LUCA.
GeneTreeiENSGT00520000055578.
HOGENOMiHOG000034113.
HOVERGENiHBG100451.
InParanoidiQ9C0F0.
KOiK11471.
OMAiGICSNIK.
OrthoDBiEOG7SXW2P.
PhylomeDBiQ9C0F0.
TreeFamiTF328464.

Family and domain databases

InterProiIPR026905. ASX-like_PHD.
IPR024811. ASX/ASX-like.
IPR028020. ASXH.
IPR024818. ASXL3.
IPR007759. HB1/Asxl_HTH.
[Graphical view]
PANTHERiPTHR13578. PTHR13578. 7 hits.
PTHR13578:SF18. PTHR13578:SF18. 7 hits.
PfamiPF13919. ASXH. 1 hit.
PF05066. HARE-HTH. 1 hit.
PF13922. PHD_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9C0F0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKDKRKKKDR TWAEAARLAL EKHPNSPMTA KQILEVIQKE GLKETSGTSP
60 70 80 90 100
LACLNAMLHT NTRIGDGTFF KIPGKSGLYA LKKEESSCPA DGTLDLVCES
110 120 130 140 150
ELDGTDMAEA NAHGEENGVC SKQVTDEASS TRDSSLTNTA VQSKLVSSFQ
160 170 180 190 200
QHTKKALKQA LRQQQKRRNG VSMMVNKTVP RVVLTPLKVS DEQSDSPSGS
210 220 230 240 250
ESKNGEADSS DKEMKHGQKS PTGKQTSQHL KRLKKSGLGH LKWTKAEDID
260 270 280 290 300
IETPGSILVN TNLRALINKH TFASLPQHFQ QYLLLLLPEV DRQMGSDGIL
310 320 330 340 350
RLSTSALNNE FFAYAAQGWK QRLAEGEFTP EMQLRIRQEI EKEKKTEPWK
360 370 380 390 400
EKFFERFYGE KLGMSREESV KLTTGPNNAG AQSSSSCGTS GLPVSAQTAL
410 420 430 440 450
AEQQPKSMKS PASPEPGFCA TLCPMVEIPP KDIMAELESE DILIPEESVI
460 470 480 490 500
QEEIAEEVET SICECQDENH KTIPEFSEEA ESLTNSHEEP QIAPPEDNLE
510 520 530 540 550
SCVMMNDVLE TLPHIEVKIE GKSESPQEEM TVVIDQLEVC DSLIPSTSSM
560 570 580 590 600
THVSDTEHKE SETAVETSTP KIKTGSSSLE GQFPNEGIAI DMELQSDPEE
610 620 630 640 650
QLSENACISE TSFSSESPEG ACTSLPSPGG ETQSTSEESC TPASLETTFC
660 670 680 690 700
SEVSSTENTD KYNQRNSTDE NFHASLMSEI SPISTSPEIS EASLMSNLPL
710 720 730 740 750
TSEASPVSNL PLTSETSPMS DLPLTSETSS VSSMLLTSET TFVSSLPLPS
760 770 780 790 800
ETSPISNSSI NERMAHQQRK SPSVSEEPLS PQKDESSATA KPLGENLTSQ
810 820 830 840 850
QKNLSNTPEP IIMSSSSIAP EAFPSEDLHN KTLSQQTCKS HVDTEKPYPA
860 870 880 890 900
SIPELASTEM IKVKNHSVLQ RTEKKVLPSP LELSVFSEGT DNKGNELPSA
910 920 930 940 950
KLQDKQYISS VDKAPFSEGS RNKTHKQGST QSRLETSHTS KSSEPSKSPD
960 970 980 990 1000
GIRNESRDSE ISKRKTAEQH SFGICKEKRA RIEDDQSTRN ISSSSPPEKE
1010 1020 1030 1040 1050
QPPREEPRVP PLKIQLSKIG PPFIIKSQPV SKPESRASTS TSVSGGRNTG
1060 1070 1080 1090 1100
ARTLADIKAR AQQARAQREA AAAAAVAAAA SIVSGAMGSP GEGGKTRTLA
1110 1120 1130 1140 1150
HIKEQTKAKL FAKHQARAHL FQTSKETRLP PPLSSKEGPP NLEVSSTPET
1160 1170 1180 1190 1200
KMEGSTGVII VNPNCRSPSN KSAHLRETTT VLQQSLNPSK LPETATDLSV
1210 1220 1230 1240 1250
HSSDENIPVS HLSEKIVSST SSENSSVPML FNKNSVPVSV CSTAISGAIK
1260 1270 1280 1290 1300
EHPFVSSVDK SSVLMSVDSA NTTISACNIS MLKTIQGTDT PCIAIIPKCI
1310 1320 1330 1340 1350
ESTPISATTE GSSISSSMDD KQLLISSSSA SNLVSTQYTS VPTPSIGNNL
1360 1370 1380 1390 1400
PNLSTSSVLI PPMGINNRFP SEKIAIPGSE EQATVSMGTT VRAALSCSDS
1410 1420 1430 1440 1450
VAVTDSLVAH PTVAMFTGNM LTINSYDSPP KLSAESLDKN SGPRNRADNS
1460 1470 1480 1490 1500
GKPQQPPGGF APAAINRSIP CKVIVDHSTT LTSSLSLTVS VESSEASLDL
1510 1520 1530 1540 1550
QGRPVRTEAS VQPVACPQVS VISRPEPVAN EGIDHSSTFI AASAAKQDSK
1560 1570 1580 1590 1600
TLPATCTSLR ELPLVPDKLN EPTAPSHNFA EQARGPAPFK SEADTTCSNQ
1610 1620 1630 1640 1650
YNPSNRICWN DDGMRSTGQP LVTHSGSSKQ KEYLEQSCPK AIKTEHANYL
1660 1670 1680 1690 1700
NVSELHPRNL VTNVALPVKS ELHEADKGFR MDTEDFPGPE LPPPAAEGAS
1710 1720 1730 1740 1750
SVQQTQNMKA STSSPMEEAI SLATDALKRV PGAGSSGCRL SSVEANNPLV
1760 1770 1780 1790 1800
TQLLQGNLPL EKVLPQPRLG AKLEINRLPL PLQTTSVGKT APERNVEIPP
1810 1820 1830 1840 1850
SSPNPDGKGY LAGTLAPLQM RKRENHPKKR VARTVGEHTQ VKCEPGKLLV
1860 1870 1880 1890 1900
EPDVKGVPCV ISSGISQLGH SQPFKQEWLN KHSMQNRIVH SPEVKQQKRL
1910 1920 1930 1940 1950
LPSCSFQQNL FHVDKNGGFH TDAGTSHRQQ FYQMPVAARG PIPTAALLQA
1960 1970 1980 1990 2000
SSKTPVGCNA FAFNRHLEQK GLGEVSLSSA PHQLRLANML SPNMPMKEGD
2010 2020 2030 2040 2050
EVGGTAHTMP NKALVHPPPP PPPPPPPPLA LPPPPPPPPP LPPPLPNAEV
2060 2070 2080 2090 2100
PSDQKQPPVT METTKRLSWP QSTGICSNIK SEPLSFEEGL SSSCELGMKQ
2110 2120 2130 2140 2150
VSYDQNEMKE QLKAFALKSA DFSSYLLSEP QKPFTQLAAQ KMQVQQQQQL
2160 2170 2180 2190 2200
CGNYPTIHFG STSFKRAASA IEKSIGILGS GSNPATGLSG QNAQMPVQNF
2210 2220 2230 2240
ADSSNADELE LKCSCRLKAM IVCKGCGAFC HDDCIGPSKL CVACLVVR
Length:2,248
Mass (Da):241,919
Last modified:February 26, 2008 - v3
Checksum:iE8BAC62B817F904D
GO
Isoform 2 (identifier: Q9C0F0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     294-317: MGSDGILRLSTSALNNEFFAYAAQ → SRNEPFLQEAMVPISGGCHEIKMS
     318-2248: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:317
Mass (Da):34,901
Checksum:iE0DF2F4307926A97
GO

Sequence cautioni

The sequence BAB71186.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD18599.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence CAB61377.1 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti46 – 461S → RN in BAD18599 (PubMed:14702039).Curated
Sequence conflicti49 – 491S → P in BAD18599 (PubMed:14702039).Curated
Sequence conflicti1079 – 10791A → V in CAB61377 (PubMed:17974005).Curated
Sequence conflicti1632 – 16321E → K in BAB71186 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti954 – 9541N → S.2 Publications
Corresponds to variant rs2282632 [ dbSNP | Ensembl ].
VAR_039267
Natural varianti1415 – 14151M → R.
Corresponds to variant rs16964887 [ dbSNP | Ensembl ].
VAR_039268
Natural varianti1652 – 16521V → M.
Corresponds to variant rs17746949 [ dbSNP | Ensembl ].
VAR_039269
Natural varianti1708 – 17081M → V.2 Publications
Corresponds to variant rs7232237 [ dbSNP | Ensembl ].
VAR_039270

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei294 – 31724MGSDG…AYAAQ → SRNEPFLQEAMVPISGGCHE IKMS in isoform 2. 1 PublicationVSP_042433Add
BLAST
Alternative sequencei318 – 22481931Missing in isoform 2. 1 PublicationVSP_042434Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC023192 Genomic DNA. No translation available.
AC090989 Genomic DNA. No translation available.
AC010798 Genomic DNA. No translation available.
AK056450 mRNA. Translation: BAB71186.1. Different initiation.
AK131454 mRNA. Translation: BAD18599.1. Sequence problems.
AB051500 mRNA. Translation: BAB21804.2.
AL133050 mRNA. Translation: CAB61377.1. Sequence problems.
CCDSiCCDS45847.1. [Q9C0F0-1]
PIRiT42653.
RefSeqiNP_085135.1. NM_030632.2. [Q9C0F0-1]
UniGeneiHs.464876.

Genome annotation databases

EnsembliENST00000269197; ENSP00000269197; ENSG00000141431. [Q9C0F0-1]
GeneIDi80816.
KEGGihsa:80816.
UCSCiuc010dmg.2. human. [Q9C0F0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC023192 Genomic DNA. No translation available.
AC090989 Genomic DNA. No translation available.
AC010798 Genomic DNA. No translation available.
AK056450 mRNA. Translation: BAB71186.1. Different initiation.
AK131454 mRNA. Translation: BAD18599.1. Sequence problems.
AB051500 mRNA. Translation: BAB21804.2.
AL133050 mRNA. Translation: CAB61377.1. Sequence problems.
CCDSiCCDS45847.1. [Q9C0F0-1]
PIRiT42653.
RefSeqiNP_085135.1. NM_030632.2. [Q9C0F0-1]
UniGeneiHs.464876.

3D structure databases

ProteinModelPortaliQ9C0F0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123314. 2 interactions.
STRINGi9606.ENSP00000269197.

PTM databases

iPTMnetiQ9C0F0.

Polymorphism and mutation databases

BioMutaiASXL3.
DMDMi172046234.

Proteomic databases

EPDiQ9C0F0.
PaxDbiQ9C0F0.
PRIDEiQ9C0F0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269197; ENSP00000269197; ENSG00000141431. [Q9C0F0-1]
GeneIDi80816.
KEGGihsa:80816.
UCSCiuc010dmg.2. human. [Q9C0F0-1]

Organism-specific databases

CTDi80816.
GeneCardsiASXL3.
HGNCiHGNC:29357. ASXL3.
HPAiHPA039539.
HPA040034.
MalaCardsiASXL3.
MIMi615115. gene.
615485. phenotype.
neXtProtiNX_Q9C0F0.
Orphaneti352577. Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency.
PharmGKBiPA162377010.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIF3. Eukaryota.
ENOG4111F3G. LUCA.
GeneTreeiENSGT00520000055578.
HOGENOMiHOG000034113.
HOVERGENiHBG100451.
InParanoidiQ9C0F0.
KOiK11471.
OMAiGICSNIK.
OrthoDBiEOG7SXW2P.
PhylomeDBiQ9C0F0.
TreeFamiTF328464.

Miscellaneous databases

GenomeRNAii80816.
PROiQ9C0F0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9C0F0.
CleanExiHS_ASXL3.
ExpressionAtlasiQ9C0F0. baseline and differential.
GenevisibleiQ9C0F0. HS.

Family and domain databases

InterProiIPR026905. ASX-like_PHD.
IPR024811. ASX/ASX-like.
IPR028020. ASXH.
IPR024818. ASXL3.
IPR007759. HB1/Asxl_HTH.
[Graphical view]
PANTHERiPTHR13578. PTHR13578. 7 hits.
PTHR13578:SF18. PTHR13578:SF18. 7 hits.
PfamiPF13919. ASXH. 1 hit.
PF05066. HARE-HTH. 1 hit.
PF13922. PHD_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1632-2248 (ISOFORM 1), VARIANT VAL-1708.
    Tissue: Testis.
  3. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
    DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 597-2248, VARIANTS SER-954 AND VAL-1708.
    Tissue: Brain.
  4. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 818-1238 (ISOFORM 1), VARIANT SER-954.
    Tissue: Testis.
  6. "Identification and characterization of ASXL3 gene in silico."
    Katoh M., Katoh M.
    Int. J. Oncol. 24:1617-1622(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION, TISSUE SPECIFICITY.
  7. "De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome."
    Bainbridge M.N., Hu H., Muzny D.M., Musante L., Lupski J.R., Graham B.H., Chen W., Gripp K.W., Jenny K., Wienker T.F., Yang Y., Sutton V.R., Gibbs R.A., Ropers H.H.
    Genome Med. 5:11-11(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN BRPS.

Entry informationi

Entry nameiASXL3_HUMAN
AccessioniPrimary (citable) accession number: Q9C0F0
Secondary accession number(s): Q6ZMX6, Q96MU3, Q9UFC5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: June 8, 2016
This is version 96 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 18
    Human chromosome 18: 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

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 one 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.