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O94761

- RECQ4_HUMAN

UniProt

O94761 - RECQ4_HUMAN

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Protein

ATP-dependent DNA helicase Q4

Gene

RECQL4

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

Functioni

DNA-dependent ATPase. May modulate chromosome segregation.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi502 – 5098ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. annealing helicase activity Source: UniProtKB
  2. ATP binding Source: UniProtKB
  3. ATP-dependent 3'-5' DNA helicase activity Source: UniProtKB
  4. bubble DNA binding Source: UniProtKB
  5. zinc ion binding Source: InterPro

GO - Biological processi

  1. DNA duplex unwinding Source: UniProtKB
  2. DNA recombination Source: InterPro
  3. DNA repair Source: ProtInc
  4. DNA replication Source: UniProtKB
  5. DNA strand renaturation Source: UniProtKB
  6. multicellular organismal development Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-dependent DNA helicase Q4 (EC:3.6.4.12)
Alternative name(s):
DNA helicase, RecQ-like type 4
Short name:
RecQ4
RTS
RecQ protein-like 4
Gene namesi
Name:RECQL4
Synonyms:RECQ4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:9949. RECQL4.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. membrane Source: UniProtKB
  3. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Rothmund-Thomson syndrome (RTS) [MIM:268400]: Characterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
RAPADILINO syndrome (RAPADILINOS) [MIM:266280]: Disease characterized by radial and patellar aplasia or hypoplasia.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Baller-Gerold syndrome (BGS) [MIM:218600]: An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1021 – 10211R → W in BGS. 1 Publication
VAR_026591

Keywords - Diseasei

Cataract, Craniosynostosis, Disease mutation, Dwarfism

Organism-specific databases

MIMi218600. phenotype.
266280. phenotype.
268400. phenotype.
Orphaneti1225. Baller-Gerold syndrome.
3021. RAPADILINO syndrome.
221016. Rothmund-Thomson syndrome type 2.
PharmGKBiPA34316.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12081208ATP-dependent DNA helicase Q4PRO_0000205053Add
BLAST

Proteomic databases

MaxQBiO94761.
PaxDbiO94761.
PRIDEiO94761.

PTM databases

PhosphoSiteiO94761.

Expressioni

Tissue specificityi

Ubiquitously expressed, with highest levels in thymus and testis.1 Publication

Inductioni

Up-regulated in actively dividing cells.1 Publication

Gene expression databases

CleanExiHS_RECQL4.
GenevestigatoriO94761.

Organism-specific databases

HPAiCAB017800.
HPA008291.
HPA025821.

Interactioni

Subunit structurei

Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity.2 Publications

Protein-protein interaction databases

BioGridi114798. 20 interactions.
DIPiDIP-48475N.
IntActiO94761. 3 interactions.
MINTiMINT-1432307.
STRINGi9606.ENSP00000410312.

Structurei

Secondary structure

1208
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1 – 2121
Helixi28 – 314
Helixi36 – 5217

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2KMUNMR-A1-54[»]
ProteinModelPortaliO94761.
SMRiO94761. Positions 1-54, 474-839.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO94761.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini489 – 662174Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini683 – 850168Helicase C-terminalPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi605 – 6084DEAH box

Sequence similaritiesi

Belongs to the helicase family. RecQ subfamily.Curated
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG0514.
HOGENOMiHOG000264957.
HOVERGENiHBG065925.
InParanoidiO94761.
KOiK10730.
PhylomeDBiO94761.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
IPR004589. DNA_helicase_ATP-dep_RecQ.
IPR021110. DNA_rep_checkpnt_protein.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR001878. Znf_CCHC.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF11719. Drc1-Sld2. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00343. ZnF_C2HC. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00614. recQ_fam. 1 hit.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O94761 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MERLRDVRER LQAWERAFRR QRGRRPSQDD VEAAPEETRA LYREYRTLKR
60 70 80 90 100
TTGQAGGGLR SSESLPAAAE EAPEPRCWGP HLNRAATKSP QPTPGRSRQG
110 120 130 140 150
SVPDYGQRLK ANLKGTLQAG PALGRRPWPL GRASSKASTP KPPGTGPVPS
160 170 180 190 200
FAEKVSDEPP QLPEPQPRPG RLQHLQASLS QRLGSLDPGW LQRCHSEVPD
210 220 230 240 250
FLGAPKACRP DLGSEESQLL IPGESAVLGP GAGSQGPEAS AFQEVSIRVG
260 270 280 290 300
SPQPSSSGGE KRRWNEEPWE SPAQVQQESS QAGPPSEGAG AVAVEEDPPG
310 320 330 340 350
EPVQAQPPQP CSSPSNPRYH GLSPSSQARA GKAEGTAPLH IFPRLARHDR
360 370 380 390 400
GNYVRLNMKQ KHYVRGRALR SRLLRKQAWK QKWRKKGECF GGGGATVTTK
410 420 430 440 450
ESCFLNEQFD HWAAQCPRPA SEEDTDAVGP EPLVPSPQPV PEVPSLDPTV
460 470 480 490 500
LPLYSLGPSG QLAETPAEVF QALEQLGHQA FRPGQERAVM RILSGISTLL
510 520 530 540 550
VLPTGAGKSL CYQLPALLYS RRSPCLTLVV SPLLSLMDDQ VSGLPPCLKA
560 570 580 590 600
ACIHSGMTRK QRESVLQKIR AAQVHVLMLT PEALVGAGGL PPAAQLPPVA
610 620 630 640 650
FACIDEAHCL SQWSHNFRPC YLRVCKVLRE RMGVHCFLGL TATATRRTAS
660 670 680 690 700
DVAQHLAVAE EPDLHGPAPV PTNLHLSVSM DRDTDQALLT LLQGKRFQNL
710 720 730 740 750
DSIIIYCNRR EDTERIAALL RTCLHAAWVP GSGGRAPKTT AEAYHAGMCS
760 770 780 790 800
RERRRVQRAF MQGQLRVVVA TVAFGMGLDR PDVRAVLHLG LPPSFESYVQ
810 820 830 840 850
AVGRAGRDGQ PAHCHLFLQP QGEDLRELRR HVHADSTDFL AVKRLVQRVF
860 870 880 890 900
PACTCTCTRP PSEQEGAVGG ERPVPKYPPQ EAEQLSHQAA PGPRRVCMGH
910 920 930 940 950
ERALPIQLTV QALDMPEEAI ETLLCYLELH PHHWLELLAT TYTHCRLNCP
960 970 980 990 1000
GGPAQLQALA HRCPPLAVCL AQQLPEDPGQ GSSSVEFDMV KLVDSMGWEL
1010 1020 1030 1040 1050
ASVRRALCQL QWDHEPRTGV RRGTGVLVEF SELAFHLRSP GDLTAEEKDQ
1060 1070 1080 1090 1100
ICDFLYGRVQ ARERQALARL RRTFQAFHSV AFPSCGPCLE QQDEERSTRL
1110 1120 1130 1140 1150
KDLLGRYFEE EEGQEPGGME DAQGPEPGQA RLQDWEDQVR CDIRQFLSLR
1160 1170 1180 1190 1200
PEEKFSSRAV ARIFHGIGSP CYPAQVYGQD RRFWRKYLHL SFHALVGLAT

EELLQVAR
Length:1,208
Mass (Da):133,077
Last modified:May 1, 1999 - v1
Checksum:iCB809A7765AB48A1
GO

Sequence cautioni

The sequence AAH13277.2 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541Q → R.1 Publication
Corresponds to variant rs35198096 [ dbSNP | Ensembl ].
VAR_025117
Natural varianti71 – 711E → G.1 Publication
Corresponds to variant rs34642881 [ dbSNP | Ensembl ].
VAR_025118
Natural varianti92 – 921P → S.1 Publication
Corresponds to variant rs2721190 [ dbSNP | Ensembl ].
VAR_025119
Natural varianti189 – 1891G → S.1 Publication
Corresponds to variant rs34371341 [ dbSNP | Ensembl ].
VAR_025120
Natural varianti267 – 2671E → D Common polymorphism. 2 Publications
Corresponds to variant rs4244612 [ dbSNP | Ensembl ].
VAR_023295
Natural varianti273 – 2731A → T.1 Publication
Corresponds to variant rs34103564 [ dbSNP | Ensembl ].
VAR_025121
Natural varianti301 – 3011E → K.1 Publication
Corresponds to variant rs34633809 [ dbSNP | Ensembl ].
VAR_025122
Natural varianti355 – 3551R → Q.1 Publication
VAR_023296
Natural varianti441 – 4411P → S.1 Publication
VAR_023297
Natural varianti522 – 5221R → C.1 Publication
Corresponds to variant rs35407712 [ dbSNP | Ensembl ].
VAR_025123
Natural varianti522 – 5221R → H.1 Publication
Corresponds to variant rs35842750 [ dbSNP | Ensembl ].
VAR_025124
Natural varianti523 – 5231S → T.1 Publication
VAR_026590
Natural varianti591 – 5911P → L.1 Publication
Corresponds to variant rs2721191 [ dbSNP | Ensembl ].
VAR_025125
Natural varianti793 – 7931P → L.
Corresponds to variant rs35098923 [ dbSNP | Ensembl ].
VAR_057125
Natural varianti793 – 7931P → S.1 Publication
Corresponds to variant rs35098923 [ dbSNP | Ensembl ].
VAR_025126
Natural varianti799 – 7991V → M.1 Publication
Corresponds to variant rs34293591 [ dbSNP | Ensembl ].
VAR_025127
Natural varianti857 – 8582Missing.
VAR_023298
Natural varianti964 – 9641P → T.1 Publication
Corresponds to variant rs33972310 [ dbSNP | Ensembl ].
VAR_025128
Natural varianti976 – 9761E → K.1 Publication
Corresponds to variant rs35070885 [ dbSNP | Ensembl ].
VAR_025129
Natural varianti1004 – 10041R → W.1 Publication
Corresponds to variant rs36023964 [ dbSNP | Ensembl ].
VAR_025130
Natural varianti1005 – 10051R → Q.2 Publications
Corresponds to variant rs4251691 [ dbSNP | Ensembl ].
VAR_023299
Natural varianti1021 – 10211R → Q.1 Publication
Corresponds to variant rs34666647 [ dbSNP | Ensembl ].
VAR_025131
Natural varianti1021 – 10211R → W in BGS. 1 Publication
VAR_026591
Natural varianti1043 – 10431L → P.
Corresponds to variant rs4925828 [ dbSNP | Ensembl ].
VAR_057126
Natural varianti1045 – 10451A → T.1 Publication
Corresponds to variant rs35348691 [ dbSNP | Ensembl ].
VAR_025132
Natural varianti1105 – 11051G → D.1 Publication
Corresponds to variant rs36078464 [ dbSNP | Ensembl ].
VAR_025133
Natural varianti1105 – 11051G → S.1 Publication
Corresponds to variant rs34915097 [ dbSNP | Ensembl ].
VAR_025134
Natural varianti1106 – 11061R → H.1 Publication
Corresponds to variant rs34236392 [ dbSNP | Ensembl ].
VAR_025135
Natural varianti1113 – 11131G → R.1 Publication
Corresponds to variant rs35101495 [ dbSNP | Ensembl ].
VAR_025136
Natural varianti1148 – 11481S → F.1 Publication
Corresponds to variant rs35346077 [ dbSNP | Ensembl ].
VAR_025137

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB006532 mRNA. Translation: BAA74453.1.
AB026546 Genomic DNA. Translation: BAA86899.1.
DQ176868 Genomic DNA. Translation: AAZ85145.1.
BC011602 mRNA. Translation: AAH11602.2.
BC013277 mRNA. Translation: AAH13277.2. Different initiation.
CCDSiCCDS75804.1.
RefSeqiNP_004251.3. NM_004260.3.
UniGeneiHs.31442.

Genome annotation databases

GeneIDi9401.
KEGGihsa:9401.
UCSCiuc003zdj.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB006532 mRNA. Translation: BAA74453.1 .
AB026546 Genomic DNA. Translation: BAA86899.1 .
DQ176868 Genomic DNA. Translation: AAZ85145.1 .
BC011602 mRNA. Translation: AAH11602.2 .
BC013277 mRNA. Translation: AAH13277.2 . Different initiation.
CCDSi CCDS75804.1.
RefSeqi NP_004251.3. NM_004260.3.
UniGenei Hs.31442.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2KMU NMR - A 1-54 [» ]
ProteinModelPortali O94761.
SMRi O94761. Positions 1-54, 474-839.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114798. 20 interactions.
DIPi DIP-48475N.
IntActi O94761. 3 interactions.
MINTi MINT-1432307.
STRINGi 9606.ENSP00000410312.

PTM databases

PhosphoSitei O94761.

Proteomic databases

MaxQBi O94761.
PaxDbi O94761.
PRIDEi O94761.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 9401.
KEGGi hsa:9401.
UCSCi uc003zdj.3. human.

Organism-specific databases

CTDi 9401.
GeneCardsi GC08M145743.
GeneReviewsi RECQL4.
HGNCi HGNC:9949. RECQL4.
HPAi CAB017800.
HPA008291.
HPA025821.
MIMi 218600. phenotype.
266280. phenotype.
268400. phenotype.
603780. gene.
neXtProti NX_O94761.
Orphaneti 1225. Baller-Gerold syndrome.
3021. RAPADILINO syndrome.
221016. Rothmund-Thomson syndrome type 2.
PharmGKBi PA34316.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0514.
HOGENOMi HOG000264957.
HOVERGENi HBG065925.
InParanoidi O94761.
KOi K10730.
PhylomeDBi O94761.

Miscellaneous databases

EvolutionaryTracei O94761.
GeneWikii RECQL4.
GenomeRNAii 9401.
NextBioi 35219.
PROi O94761.
SOURCEi Search...

Gene expression databases

CleanExi HS_RECQL4.
Genevestigatori O94761.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR011545. DEAD/DEAH_box_helicase_dom.
IPR004589. DNA_helicase_ATP-dep_RecQ.
IPR021110. DNA_rep_checkpnt_protein.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR001878. Znf_CCHC.
[Graphical view ]
Pfami PF00270. DEAD. 1 hit.
PF11719. Drc1-Sld2. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view ]
SMARTi SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00343. ZnF_C2HC. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
TIGRFAMsi TIGR00614. recQ_fam. 1 hit.
PROSITEi PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes."
    Kitao S., Ohsugi I., Ichikawa K., Goto M., Furuichi Y., Shimamoto A.
    Genomics 54:443-452(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Testis.
  2. "Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products."
    Kitao S., Lindor N.M., Shiratori M., Furuichi Y., Shimamoto A.
    Genomics 61:268-276(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, INVOLVEMENT IN ROTHMUND-THOMSON SYNDROME.
  3. NIEHS SNPs program
    Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-54; GLY-71; SER-92; SER-189; ASP-267; THR-273; LYS-301; CYS-522; HIS-522; LEU-591; SER-793; MET-799; THR-964; LYS-976; TRP-1004; GLN-1005; GLN-1021; THR-1045; SER-1105; ASP-1105; HIS-1106; ARG-1113 AND PHE-1148.
  4. "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] OF 468-1208.
    Tissue: Lymph and Placenta.
  5. Cited for: INDUCTION.
  6. "Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases."
    Siitonen H.A., Kopra O., Kaeaeriaeinen H., Haravuori H., Winter R.M., Saeaemaenen A.-M., Peltonen L., Kestilae M.
    Hum. Mol. Genet. 12:2837-2844(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN RAPADILINOS.
  7. "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway."
    Yin J., Kwon Y.T., Varshavsky A., Wang W.
    Hum. Mol. Genet. 13:2421-2430(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH UBR1 AND UBR2, SUBCELLULAR LOCATION, FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY.
  8. "MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication."
    Xu X., Rochette P.J., Feyissa E.A., Su T.V., Liu Y.
    EMBO J. 28:3005-3014(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MCM10.
  9. "Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite."
    Roversi G., Beghini A., Zambruno G., Paradisi M., Larizza L.
    J. Hum. Genet. 48:107-109(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASP-267 AND GLN-1005.
  10. Cited for: VARIANTS GLN-355; SER-441 AND 857-CYS--THR-858 DEL.
  11. "Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene."
    Van Maldergem L., Siitonen H.A., Jalkh N., Chouery E., De Roy M., Delague V., Muenke M., Jabs E.W., Cai J., Wang L.L., Plon S.E., Fourneau C., Kestilae M., Gillerot Y., Megarbane A., Verloes A.
    J. Med. Genet. 43:148-152(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BGS TRP-1021, VARIANT THR-523.

Entry informationi

Entry nameiRECQ4_HUMAN
AccessioniPrimary (citable) accession number: O94761
Secondary accession number(s): Q3Y424, Q96DW2, Q96F55
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: October 29, 2014
This is version 143 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3