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UniProtKB - Q9H4L7 (SMRCD_HUMAN)

Protein

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1

Gene

SMARCAD1

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

Functioni

DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restoration of silencing.2 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi521 – 529ATPPROSITE-ProRule annotation9
Nucleotide bindingi897 – 904ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • DNA binding Source: UniProtKB
  • helicase activity Source: UniProtKB-KW
  • nucleic acid binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionChromatin regulator, DNA-binding, Helicase, Hydrolase
Biological processDNA damage, DNA repair
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

SIGNORiQ9H4L7

Names & Taxonomyi

Protein namesi
Recommended name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 (EC:3.6.4.12)
Alternative name(s):
ATP-dependent helicase 1
Short name:
hHEL1
Gene namesi
Name:SMARCAD1
Synonyms:KIAA1122
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000163104.17
HGNCiHGNC:18398 SMARCAD1
MIMi612761 gene
neXtProtiNX_Q9H4L7

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

Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Adermatoglyphia (ADERM)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in ADERM.2 Publications
Disease descriptionAn autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles.
See also OMIM:136000
Basan syndrome (BSNS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in BSNS.2 Publications
Disease descriptionAn autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints.
See also OMIM:129200

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi528K → R: No effect on subcellular localization and on histone deacetylation. 1 Publication1

Keywords - Diseasei

Ectodermal dysplasia

Organism-specific databases

DisGeNETi56916
MalaCardsiSMARCAD1
MIMi129200 phenotype
136000 phenotype
OpenTargetsiENSG00000163104
Orphaneti1658 Absence of fingerprints-congenital milia syndrome
289465 Isolated congenital adermatoglyphia
PharmGKBiPA134954731

Polymorphism and mutation databases

BioMutaiSMARCAD1
DMDMi306526240

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000743561 – 1026SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1Add BLAST1026

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei54PhosphothreonineCombined sources1
Modified residuei57PhosphoserineCombined sources1
Modified residuei71PhosphothreonineCombined sources1
Cross-linki77Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei79PhosphoserineCombined sources1
Cross-linki84Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei124PhosphoserineCombined sources1
Modified residuei127PhosphoserineCombined sources1
Modified residuei132PhosphoserineCombined sources1
Modified residuei146PhosphoserineCombined sources1
Modified residuei152PhosphoserineCombined sources1
Modified residuei211PhosphoserineCombined sources1
Modified residuei214PhosphoserineCombined sources1
Modified residuei217PhosphotyrosineCombined sources1
Modified residuei239PhosphoserineCombined sources1
Modified residuei242PhosphoserineCombined sources1
Modified residuei302PhosphoserineCombined sources1
Cross-linki335Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki471Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki724Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki996Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9H4L7
MaxQBiQ9H4L7
PaxDbiQ9H4L7
PeptideAtlasiQ9H4L7
PRIDEiQ9H4L7
ProteomicsDBi80860
80861 [Q9H4L7-2]
80862 [Q9H4L7-3]

PTM databases

iPTMnetiQ9H4L7
PhosphoSitePlusiQ9H4L7

Expressioni

Tissue specificityi

Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin, fibroblasts, keratinocytes and esophagus.2 Publications

Gene expression databases

BgeeiENSG00000163104 Expressed in 189 organ(s), highest expression level in intestine
CleanExiHS_SMARCAD1
ExpressionAtlasiQ9H4L7 baseline and differential
GenevisibleiQ9H4L7 HS

Organism-specific databases

HPAiHPA016737

Interactioni

Subunit structurei

Binds to DNA preferentially in the vicinity of transcriptional start sites. Interacts with MSH2 and TRIM28. Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Interacts with PCNA.2 Publications

Protein-protein interaction databases

BioGridi121244, 141 interactors
IntActiQ9H4L7, 6 interactors
MINTiQ9H4L7
STRINGi9606.ENSP00000351947

Structurei

3D structure databases

ProteinModelPortaliQ9H4L7
SMRiQ9H4L7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini157 – 199CUE 1PROSITE-ProRule annotationAdd BLAST43
Domaini251 – 294CUE 2PROSITE-ProRule annotationAdd BLAST44
Domaini509 – 677Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST169
Domaini858 – 1010Helicase C-terminalPROSITE-ProRule annotationAdd BLAST153

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi628 – 631DEGH box4
Motifi721 – 738Nuclear localization signalSequence analysisAdd BLAST18
Motifi1005 – 1008DEGD box4

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0389 Eukaryota
ENOG410XNUT LUCA
GeneTreeiENSGT00910000144252
HOGENOMiHOG000172362
HOVERGENiHBG055804
InParanoidiQ9H4L7
KOiK14439
OMAiSEFPNGK
OrthoDBiEOG091G0307
PhylomeDBiQ9H4L7
TreeFamiTF105768

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR003892 CUE
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
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
PS51140 CUE, 2 hits
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H4L7-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MNLFNLDRFR FEKRNKIEEA PEATPQPSQP GPSSPISLSA EEENAEGEVS 
        60         70         80         90        100
RANTPDSDIT EKTEDSSVPE TPDNERKASI SYFKNQRGIQ YIDLSSDSED 
       110        120        130        140        150
VVSPNCSNTV QEKTFNKDTV IIVSEPSEDE ESQGLPTMAR RNDDISELED 
       160        170        180        190        200
LSELEDLKDA KLQTLKELFP QRSDNDLLKL IESTSTMDGA IAAALLMFGD 
       210        220        230        240        250
AGGGPRKRKL SSSSEPYEED EFNDDQSIKK TRLDHGEESN ESAESSSNWE 
       260        270        280        290        300
KQESIVLKLQ KEFPNFDKQE LREVLKEHEW MYTEALESLK VFAEDQDMQY 
       310        320        330        340        350
VSQSEVPNGK EVSSRSQNYP KNATKTKLKQ KFSMKAQNGF NKKRKKNVFN 
       360        370        380        390        400
PKRVVEDSEY DSGSDVGSSL DEDYSSGEEV MEDGYKGKIL HFLQDASIGE 
       410        420        430        440        450
LTLIPQCSQK KAQKITELRP FNSWEALFTK MSKTNGLSED LIWHCKTLIQ 
       460        470        480        490        500
ERDVVIRLMN KCEDISNKLT KQVTMLTGNG GGWNIEQPSI LNQSLSLKPY 
       510        520        530        540        550
QKVGLNWLAL VHKHGLNGIL ADEMGLGKTI QAIAFLAYLY QEGNNGPHLI 
       560        570        580        590        600
VVPASTIDNW LREVNLWCPT LKVLCYYGSQ EERKQIRFNI HSRYEDYNVI 
       610        620        630        640        650
VTTYNCAISS SDDRSLFRRL KLNYAIFDEG HMLKNMGSIR YQHLMTINAN 
       660        670        680        690        700
NRLLLTGTPV QNNLLELMSL LNFVMPHMFS SSTSEIRRMF SSKTKSADEQ 
       710        720        730        740        750
SIYEKERIAH AKQIIKPFIL RRVKEEVLKQ LPPKKDRIEL CAMSEKQEQL 
       760        770        780        790        800
YLGLFNRLKK SINNLEKNTE MCNVMMQLRK MANHPLLHRQ YYTAEKLKEM 
       810        820        830        840        850
SQLMLKEPTH CEANPDLIFE DMEVMTDFEL HVLCKQYRHI NNFQLDMDLI 
       860        870        880        890        900
LDSGKFRVLG CILSELKQKG DRVVLFSQFT MMLDILEVLL KHHQHRYLRL 
       910        920        930        940        950
DGKTQISERI HLIDEFNTDM DIFVFLLSTK AGGLGINLTS ANVVILHDID 
       960        970        980        990       1000
CNPYNDKQAE DRCHRVGQTK EVLVIKLISQ GTIEESMLKI NQQKLKLEQD 
      1010       1020 
MTTVDEGDEG SMPADIATLL KTSMGL
Length:1,026
Mass (Da):117,402
Last modified:October 5, 2010 - v2
Checksum:i0A5DB5653F478413
GO
Isoform 2 (identifier: Q9H4L7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     765-765: L → LVT

Show »
Length:1,028
Mass (Da):117,603
Checksum:i0F1C3F3AB7224F23
GO
Isoform 3 (identifier: Q9H4L7-3) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-430: Missing.

Note: Skin-specific.
Show »
Length:596
Mass (Da):68,774
Checksum:i6BBB9C2EB02E2A97
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RAY8D6RAY8_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAD1
244Annotation score:
F8W9M2F8W9M2_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAD1
70Annotation score:

Sequence cautioni

The sequence AAH17953 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA86436 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB14759 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti215E → D in AAH17953 (PubMed:15489334).Curated1
Sequence conflicti937N → D in BAB14759 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02803766S → F. Corresponds to variant dbSNP:rs11723410Ensembl.1
Natural variantiVAR_028038135L → F. Corresponds to variant dbSNP:rs2664891Ensembl.1
Natural variantiVAR_028039140R → C. Corresponds to variant dbSNP:rs2632398Ensembl.1
Natural variantiVAR_028040245S → Y. Corresponds to variant dbSNP:rs3103117Ensembl.1
Natural variantiVAR_028041247S → NCombined sources1 PublicationCorresponds to variant dbSNP:rs11722476Ensembl.1
Natural variantiVAR_028042301V → ACombined sources2 PublicationsCorresponds to variant dbSNP:rs7439869Ensembl.1
Natural variantiVAR_028043351P → Q1 PublicationCorresponds to variant dbSNP:rs17854344Ensembl.1
Natural variantiVAR_028044972V → A1 PublicationCorresponds to variant dbSNP:rs17857297Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0431101 – 430Missing in isoform 3. 1 PublicationAdd BLAST430
Alternative sequenceiVSP_007104765L → LVT in isoform 2. 3 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY008271 mRNA Translation: AAG16639.1
AB032948 mRNA Translation: BAA86436.2 Different initiation.
AK023990 mRNA Translation: BAB14759.1 Different initiation.
AK027490 mRNA Translation: BAB55150.1
AK301668 mRNA Translation: BAH13535.1
AC096746 Genomic DNA No translation available.
BC017953 mRNA Translation: AAH17953.1 Sequence problems.
BC045534 mRNA Translation: AAH45534.1
AL359929 mRNA Translation: CAB95769.1
AL512768 mRNA Translation: CAC21685.1
CCDSiCCDS3639.1 [Q9H4L7-1]
CCDS47101.1 [Q9H4L7-2]
CCDS58914.1 [Q9H4L7-3]
RefSeqiNP_001121901.1, NM_001128429.2 [Q9H4L7-2]
NP_001121902.1, NM_001128430.1 [Q9H4L7-2]
NP_001241878.1, NM_001254949.1 [Q9H4L7-3]
NP_064544.2, NM_020159.4 [Q9H4L7-1]
XP_016863952.1, XM_017008463.1 [Q9H4L7-1]
UniGeneiHs.410406

Genome annotation databases

EnsembliENST00000354268; ENSP00000346217; ENSG00000163104 [Q9H4L7-1]
ENST00000359052; ENSP00000351947; ENSG00000163104 [Q9H4L7-2]
ENST00000457823; ENSP00000415576; ENSG00000163104 [Q9H4L7-2]
ENST00000509418; ENSP00000423286; ENSG00000163104 [Q9H4L7-3]
GeneIDi56916
KEGGihsa:56916
UCSCiuc003htb.5 human [Q9H4L7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Protein Spotlight

The ends of our fingers - Issue 136 of March 2012

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY008271 mRNA Translation: AAG16639.1
AB032948 mRNA Translation: BAA86436.2 Different initiation.
AK023990 mRNA Translation: BAB14759.1 Different initiation.
AK027490 mRNA Translation: BAB55150.1
AK301668 mRNA Translation: BAH13535.1
AC096746 Genomic DNA No translation available.
BC017953 mRNA Translation: AAH17953.1 Sequence problems.
BC045534 mRNA Translation: AAH45534.1
AL359929 mRNA Translation: CAB95769.1
AL512768 mRNA Translation: CAC21685.1
CCDSiCCDS3639.1 [Q9H4L7-1]
CCDS47101.1 [Q9H4L7-2]
CCDS58914.1 [Q9H4L7-3]
RefSeqiNP_001121901.1, NM_001128429.2 [Q9H4L7-2]
NP_001121902.1, NM_001128430.1 [Q9H4L7-2]
NP_001241878.1, NM_001254949.1 [Q9H4L7-3]
NP_064544.2, NM_020159.4 [Q9H4L7-1]
XP_016863952.1, XM_017008463.1 [Q9H4L7-1]
UniGeneiHs.410406

3D structure databases

ProteinModelPortaliQ9H4L7
SMRiQ9H4L7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121244, 141 interactors
IntActiQ9H4L7, 6 interactors
MINTiQ9H4L7
STRINGi9606.ENSP00000351947

PTM databases

iPTMnetiQ9H4L7
PhosphoSitePlusiQ9H4L7

Polymorphism and mutation databases

BioMutaiSMARCAD1
DMDMi306526240

Proteomic databases

EPDiQ9H4L7
MaxQBiQ9H4L7
PaxDbiQ9H4L7
PeptideAtlasiQ9H4L7
PRIDEiQ9H4L7
ProteomicsDBi80860
80861 [Q9H4L7-2]
80862 [Q9H4L7-3]

Protocols and materials databases

DNASUi56916
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354268; ENSP00000346217; ENSG00000163104 [Q9H4L7-1]
ENST00000359052; ENSP00000351947; ENSG00000163104 [Q9H4L7-2]
ENST00000457823; ENSP00000415576; ENSG00000163104 [Q9H4L7-2]
ENST00000509418; ENSP00000423286; ENSG00000163104 [Q9H4L7-3]
GeneIDi56916
KEGGihsa:56916
UCSCiuc003htb.5 human [Q9H4L7-1]

Organism-specific databases

CTDi56916
DisGeNETi56916
EuPathDBiHostDB:ENSG00000163104.17
GeneCardsiSMARCAD1
H-InvDBiHIX0004380
HGNCiHGNC:18398 SMARCAD1
HPAiHPA016737
MalaCardsiSMARCAD1
MIMi129200 phenotype
136000 phenotype
612761 gene
neXtProtiNX_Q9H4L7
OpenTargetsiENSG00000163104
Orphaneti1658 Absence of fingerprints-congenital milia syndrome
289465 Isolated congenital adermatoglyphia
PharmGKBiPA134954731
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0389 Eukaryota
ENOG410XNUT LUCA
GeneTreeiENSGT00910000144252
HOGENOMiHOG000172362
HOVERGENiHBG055804
InParanoidiQ9H4L7
KOiK14439
OMAiSEFPNGK
OrthoDBiEOG091G0307
PhylomeDBiQ9H4L7
TreeFamiTF105768

Enzyme and pathway databases

SIGNORiQ9H4L7

Miscellaneous databases

ChiTaRSiSMARCAD1 human
GeneWikiiSMARCAD1
GenomeRNAii56916
PROiPR:Q9H4L7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163104 Expressed in 189 organ(s), highest expression level in intestine
CleanExiHS_SMARCAD1
ExpressionAtlasiQ9H4L7 baseline and differential
GenevisibleiQ9H4L7 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR003892 CUE
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
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
PS51140 CUE, 2 hits
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSMRCD_HUMAN
AccessioniPrimary (citable) accession number: Q9H4L7
Secondary accession number(s): B7Z799
, Q05D56, Q96SX1, Q9H017, Q9H860, Q9NPU9, Q9ULU7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: October 5, 2010
Last modified: November 7, 2018
This is version 167 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: 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. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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