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Protein

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

Gene

SMARCAL1

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

Functioni

ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi458 – 465ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • annealing helicase activity Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • DNA-dependent ATPase activity Source: UniProtKB
  • helicase activity Source: UniProtKB-KW

GO - Biological processi

  • cellular response to DNA damage stimulus Source: UniProtKB
  • DNA metabolic process Source: UniProtKB
  • DNA repair Source: GO_Central
  • DNA rewinding Source: GO_Central
  • regulation of transcription by RNA polymerase II Source: UniProtKB
  • replication fork processing Source: UniProtKB
  • replication fork protection Source: GO_Central
  • t-circle formation Source: BHF-UCL

Keywordsi

Molecular functionHelicase, Hydrolase
LigandATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 (EC:3.6.4.-)
Alternative name(s):
HepA-related protein
Short name:
hHARP
Sucrose nonfermenting protein 2-like 1
Gene namesi
Name:SMARCAL1
Synonyms:HARP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000138375.12
HGNCiHGNC:11102 SMARCAL1
MIMi606622 gene
neXtProtiNX_Q9NZC9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Schimke immuno-osseous dysplasia (SIOD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case.
See also OMIM:242900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021370468A → P in SIOD. 1 Publication1
Natural variantiVAR_021371548I → N in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473036EnsemblClinVar.1
Natural variantiVAR_021372579S → L in SIOD. 1 Publication1
Natural variantiVAR_021373586R → W in SIOD; impairs without abolishing annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 3 PublicationsCorresponds to variant dbSNP:rs119473038EnsemblClinVar.1
Natural variantiVAR_021374644R → W in SIOD. 1 Publication1
Natural variantiVAR_021375645R → C in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473037EnsemblClinVar.1
Natural variantiVAR_021376647K → Q in SIOD. 1 Publication1
Natural variantiVAR_021377647K → T in SIOD. 1 Publication1
Natural variantiVAR_021379705T → I in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200644381Ensembl.1
Natural variantiVAR_021381764R → Q in SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 3 PublicationsCorresponds to variant dbSNP:rs267607071EnsemblClinVar.1
Natural variantiVAR_021382820R → H in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200666300Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi17 – 19RQK → AAA: Loss of interaction with RPA2 and impaired recruitment by the RPA complex to sites of DNA damage. 1 Publication3

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi50485
GeneReviewsiSMARCAL1
MalaCardsiSMARCAL1
MIMi242900 phenotype
OpenTargetsiENSG00000138375
Orphaneti1830 Schimke immuno-osseous dysplasia
PharmGKBiPA35952

Polymorphism and mutation databases

BioMutaiSMARCAL1
DMDMi60390962

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000743482 – 954SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1Add BLAST953

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Modified residuei112PhosphoserineCombined sources1
Modified residuei123PhosphoserineCombined sources1
Modified residuei129PhosphoserineCombined sources1
Modified residuei151PhosphoserineCombined sources1
Modified residuei198PhosphoserineCombined sources1

Post-translational modificationi

DNA damage-regulated phosphorylation by kinases that may include ATM, ATR and PRKDC.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9NZC9
MaxQBiQ9NZC9
PaxDbiQ9NZC9
PeptideAtlasiQ9NZC9
PRIDEiQ9NZC9
ProteomicsDBi83371

PTM databases

iPTMnetiQ9NZC9
PhosphoSitePlusiQ9NZC9

Expressioni

Tissue specificityi

Ubiquitously expressed, with high levels in testis.2 Publications

Gene expression databases

BgeeiENSG00000138375 Expressed in 96 organ(s), highest expression level in corpus callosum
CleanExiHS_SMARCAL1
ExpressionAtlasiQ9NZC9 baseline and differential
GenevisibleiQ9NZC9 HS

Organism-specific databases

HPAiHPA020337

Interactioni

Subunit structurei

Interacts with RPA2; the interaction is direct and mediates the recruitment by the RPA complex of SMARCAL1 to sites of DNA damage.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
RPA2P1592713EBI-5457961,EBI-621404

Protein-protein interaction databases

BioGridi119072, 10 interactors
ELMiQ9NZC9
IntActiQ9NZC9, 7 interactors
MINTiQ9NZC9
STRINGi9606.ENSP00000349823

Structurei

Secondary structure

1954
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9NZC9
SMRiQ9NZC9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini226 – 303HARP 1PROSITE-ProRule annotationAdd BLAST78
Domaini327 – 398HARP 2PROSITE-ProRule annotationAdd BLAST72
Domaini445 – 600Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST156
Domaini716 – 869Helicase C-terminalPROSITE-ProRule annotationAdd BLAST154

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 30Mediates interaction with RPA2Add BLAST29

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili3 – 34Sequence analysisAdd BLAST32

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi549 – 552DESH box4

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG1000 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00910000144109
HOVERGENiHBG054110
InParanoidiQ9NZC9
KOiK14440
OMAiKTRKWNF
OrthoDBiEOG091G0A1B
PhylomeDBiQ9NZC9
TreeFamiTF106474

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR030101 HARP(SMARCAL1)
IPR010003 HARP_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PANTHERiPTHR10799:SF731 PTHR10799:SF731, 2 hits
PfamiView protein in Pfam
PF07443 HARP, 2 hits
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51467 HARP, 2 hits
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

Q9NZC9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSLPLTEEQR KKIEENRQKA LARRAEKLLA EQHQRTSSGT SIAGNPFQAK
60 70 80 90 100
QGPSQNFPRE SCKPVSHGVI FKQQNLSSSS NADQRPHDSH SFQAKGIWKK
110 120 130 140 150
PEEMPTACPG HSPRSQMALT GISPPLAQSP PEVPKQQLLS YELGQGHAQA
160 170 180 190 200
SPEIRFTPFA NPTHKPLAKP KSSQETPAHS SGQPPRDAKL EAKTAKASPS
210 220 230 240 250
GQNISYIHSS SESVTPRTEG RLQQKSGSSV QKGVNSQKGK CVRNGDRFQV
260 270 280 290 300
LIGYNAELIA VFKTLPSKNY DPDTKTWNFS MNDYSALMKA AQSLPTVNLQ
310 320 330 340 350
PLEWAYGSSE SPSTSSEGQA GLPSAPSLSF VKGRCMLISR AYFEADISYS
360 370 380 390 400
QDLIALFKQM DSRRYDVKTR KWSFLLEEHS KLIAKVRCLP QVQLDPLPTT
410 420 430 440 450
LTLAFASQLK KTSLSLTPDV PEADLSEVDP KLVSNLMPFQ RAGVNFAIAK
460 470 480 490 500
GGRLLLADDM GLGKTIQAIC IAAFYRKEWP LLVVVPSSVR FTWEQAFLRW
510 520 530 540 550
LPSLSPDCIN VVVTGKDRLT AGLINIVSFD LLSKLEKQLK TPFKVVIIDE
560 570 580 590 600
SHFLKNSRTA RCRAAMPVLK VAKRVILLSG TPAMSRPAEL YTQIIAVKPT
610 620 630 640 650
FFPQFHAFGL RYCDAKRMPW GWDYSGSSNL GELKLLLEEA VMLRRLKSDV
660 670 680 690 700
LSQLPAKQRK IVVIAPGRIN ARTRAALDAA AKEMTTKDKT KQQQKDALIL
710 720 730 740 750
FFNRTAEAKI PSVIEYILDL LESGREKFLV FAHHKVVLDA ITQELERKHV
760 770 780 790 800
QHIRIDGSTS SAEREDLCQQ FQLSERHAVA VLSITAANMG LTFSSADLVV
810 820 830 840 850
FAELFWNPGV LIQAEDRVHR IGQTSSVGIH YLVAKGTADD YLWPLIQEKI
860 870 880 890 900
KVLAEAGLSE TNFSEMTEST DYLYKDPKQQ KIYDLFQKSF EKEGSDMELL
910 920 930 940 950
EAAESFDPGS ASGTSGSSSQ NMGDTLDESS LTASPQKKRR FEFFDNWDSF

TSPL
Length:954
Mass (Da):105,938
Last modified:October 1, 2000 - v1
Checksum:iC5C762C24A2FDD3A
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BYI2H7BYI2_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
796Annotation score:
H7C051H7C051_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
325Annotation score:
H7C1I3H7C1I3_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
161Annotation score:
C9JHQ1C9JHQ1_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
141Annotation score:
C9J8F8C9J8F8_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
130Annotation score:
C9JP32C9JP32_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
92Annotation score:
C9J6I8C9J6I8_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
145Annotation score:
C9JS37C9JS37_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
19Annotation score:

Sequence cautioni

The sequence BAA90955 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti118A → T in AAF24984 (PubMed:10857751).Curated1
Sequence conflicti335C → G in AAF24984 (PubMed:10857751).Curated1
Sequence conflicti344E → K in BAA90955 (PubMed:14702039).Curated1
Sequence conflicti882I → M in AAF24984 (PubMed:10857751).Curated1
Sequence conflicti900L → V in AAF24984 (PubMed:10857751).Curated1
Sequence conflicti911A → G in AAF24984 (PubMed:10857751).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03837022A → G1 PublicationCorresponds to variant dbSNP:rs17851400Ensembl.1
Natural variantiVAR_02136343A → T. Corresponds to variant dbSNP:rs2066524EnsemblClinVar.1
Natural variantiVAR_021364114R → H. Corresponds to variant dbSNP:rs11555797EnsemblClinVar.1
Natural variantiVAR_021366207I → F. Corresponds to variant dbSNP:rs6734114Ensembl.1
Natural variantiVAR_021367315S → R. Corresponds to variant dbSNP:rs2066522EnsemblClinVar.1
Natural variantiVAR_021368377E → Q2 PublicationsCorresponds to variant dbSNP:rs2066518EnsemblClinVar.1
Natural variantiVAR_021369424D → V. Corresponds to variant dbSNP:rs2066520EnsemblClinVar.1
Natural variantiVAR_036026432L → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_021370468A → P in SIOD. 1 Publication1
Natural variantiVAR_021371548I → N in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473036EnsemblClinVar.1
Natural variantiVAR_021372579S → L in SIOD. 1 Publication1
Natural variantiVAR_021373586R → W in SIOD; impairs without abolishing annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 3 PublicationsCorresponds to variant dbSNP:rs119473038EnsemblClinVar.1
Natural variantiVAR_021374644R → W in SIOD. 1 Publication1
Natural variantiVAR_021375645R → C in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473037EnsemblClinVar.1
Natural variantiVAR_021376647K → Q in SIOD. 1 Publication1
Natural variantiVAR_021377647K → T in SIOD. 1 Publication1
Natural variantiVAR_021378649D → N. Corresponds to variant dbSNP:rs2066523Ensembl.1
Natural variantiVAR_021379705T → I in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200644381Ensembl.1
Natural variantiVAR_021380742T → M. Corresponds to variant dbSNP:rs2271336EnsemblClinVar.1
Natural variantiVAR_021381764R → Q in SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 3 PublicationsCorresponds to variant dbSNP:rs267607071EnsemblClinVar.1
Natural variantiVAR_021382820R → H in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200666300Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF082179 mRNA Translation: AAF24984.1
AF210842
, AF210833, AF210834, AF210835, AF210836, AF210837, AF210838, AF210839, AF210840, AF210841 Genomic DNA Translation: AAF70454.1
AF432223 mRNA Translation: AAL73034.1
AC098820 Genomic DNA Translation: AAX93097.1
CH471063 Genomic DNA Translation: EAW70567.1
BC016482 mRNA Translation: AAH16482.1
BC043341 mRNA Translation: AAH43341.1
AL122076 mRNA Translation: CAB59251.1
AK000117 mRNA Translation: BAA90955.1 Different initiation.
CCDSiCCDS2403.1
PIRiT34557
RefSeqiNP_001120679.1, NM_001127207.1
NP_054859.2, NM_014140.3
XP_005246688.1, XM_005246631.2
XP_005246689.1, XM_005246632.1
UniGeneiHs.516674

Genome annotation databases

EnsembliENST00000357276; ENSP00000349823; ENSG00000138375
ENST00000358207; ENSP00000350940; ENSG00000138375
GeneIDi50485
KEGGihsa:50485
UCSCiuc002vgc.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

SMARCAL1base

SMARCAL1 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF082179 mRNA Translation: AAF24984.1
AF210842
, AF210833, AF210834, AF210835, AF210836, AF210837, AF210838, AF210839, AF210840, AF210841 Genomic DNA Translation: AAF70454.1
AF432223 mRNA Translation: AAL73034.1
AC098820 Genomic DNA Translation: AAX93097.1
CH471063 Genomic DNA Translation: EAW70567.1
BC016482 mRNA Translation: AAH16482.1
BC043341 mRNA Translation: AAH43341.1
AL122076 mRNA Translation: CAB59251.1
AK000117 mRNA Translation: BAA90955.1 Different initiation.
CCDSiCCDS2403.1
PIRiT34557
RefSeqiNP_001120679.1, NM_001127207.1
NP_054859.2, NM_014140.3
XP_005246688.1, XM_005246631.2
XP_005246689.1, XM_005246632.1
UniGeneiHs.516674

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4MQVX-ray1.95B/D5-30[»]
ProteinModelPortaliQ9NZC9
SMRiQ9NZC9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119072, 10 interactors
ELMiQ9NZC9
IntActiQ9NZC9, 7 interactors
MINTiQ9NZC9
STRINGi9606.ENSP00000349823

PTM databases

iPTMnetiQ9NZC9
PhosphoSitePlusiQ9NZC9

Polymorphism and mutation databases

BioMutaiSMARCAL1
DMDMi60390962

Proteomic databases

EPDiQ9NZC9
MaxQBiQ9NZC9
PaxDbiQ9NZC9
PeptideAtlasiQ9NZC9
PRIDEiQ9NZC9
ProteomicsDBi83371

Protocols and materials databases

DNASUi50485
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357276; ENSP00000349823; ENSG00000138375
ENST00000358207; ENSP00000350940; ENSG00000138375
GeneIDi50485
KEGGihsa:50485
UCSCiuc002vgc.5 human

Organism-specific databases

CTDi50485
DisGeNETi50485
EuPathDBiHostDB:ENSG00000138375.12
GeneCardsiSMARCAL1
GeneReviewsiSMARCAL1
HGNCiHGNC:11102 SMARCAL1
HPAiHPA020337
MalaCardsiSMARCAL1
MIMi242900 phenotype
606622 gene
neXtProtiNX_Q9NZC9
OpenTargetsiENSG00000138375
Orphaneti1830 Schimke immuno-osseous dysplasia
PharmGKBiPA35952
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1000 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00910000144109
HOVERGENiHBG054110
InParanoidiQ9NZC9
KOiK14440
OMAiKTRKWNF
OrthoDBiEOG091G0A1B
PhylomeDBiQ9NZC9
TreeFamiTF106474

Miscellaneous databases

ChiTaRSiSMARCAL1 human
GeneWikiiSMARCAL1
GenomeRNAii50485
PROiPR:Q9NZC9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138375 Expressed in 96 organ(s), highest expression level in corpus callosum
CleanExiHS_SMARCAL1
ExpressionAtlasiQ9NZC9 baseline and differential
GenevisibleiQ9NZC9 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR030101 HARP(SMARCAL1)
IPR010003 HARP_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PANTHERiPTHR10799:SF731 PTHR10799:SF731, 2 hits
PfamiView protein in Pfam
PF07443 HARP, 2 hits
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51467 HARP, 2 hits
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSMAL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NZC9
Secondary accession number(s): A6NEH0
, Q53R00, Q96AY1, Q9NXQ5, Q9UFH3, Q9UI93
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2005
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 152 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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