Protein Description

Gene Symbol WHSC1
Entrez ID 7468
Uniprot ID O96028
Description Wolf-Hirschhorn syndrome candidate 1
Chromosomal Location chr4: 1,871,424-1,982,207
Ontology GO ID GO Term Definition Evidence

BP

GO:0000122

negative regulation of transcription from RNA polymerase II promoter

Any process that stops, prevents, or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IEA

BP

GO:0003149

membranous septum morphogenesis

The process in which the membranous septum is generated and organized. The membranous septum is the upper part of ventricular septum.

IEA

BP

GO:0003289

atrial septum primum morphogenesis

The process in which anatomical structure of an atrial septum primum is generated and organized.

IEA

BP

GO:0003290

atrial septum secundum morphogenesis

The process in which anatomical structure of an atrial septum secundum is generated and organized.

IEA

BP

GO:0006303

double-strand break repair via nonhomologous end joining

The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear.

TAS

BP

GO:0006351

transcription, DNA-templated

The cellular synthesis of RNA on a template of DNA.

IEA

BP

GO:0009653

anatomical structure morphogenesis

The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.

TAS

BP

GO:0010452

histone H3-K36 methylation

The modification of histone H3 by addition of one or more methyl groups to lysine at position 36 of the histone.

IEA

BP

GO:0034770

histone H4-K20 methylation

The modification of histone H4 by addition of one or more methyl groups to lysine at position 20 of the histone.

IEA

BP

GO:0048298

positive regulation of isotype switching to IgA isotypes

Any process that activates or increases the frequency, rate or extent of isotype switching to IgA isotypes.

IEA

BP

GO:0060348

bone development

The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components.

IEA

BP

GO:0070201

regulation of establishment of protein localization

Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location.

IEA

BP

GO:2001032

regulation of double-strand break repair via nonhomologous end joining

Any process that modulates the frequency, rate or extent of double-strand break repair via nonhomologous end joining.

IEA

CC

GO:0005634

nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

IDA

CC

GO:0005654

nucleoplasm

That part of the nuclear content other than the chromosomes or the nucleolus.

TAS

CC

GO:0005694

chromosome

A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.

IEA

CC

GO:0005737

cytoplasm

All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

IEA

MF

GO:0003682

chromatin binding

Interacting selectively and non-covalently with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.

IEA

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0008270

zinc ion binding

Interacting selectively and non-covalently with zinc (Zn) ions.

IEA

MF

GO:0018024

histone-lysine N-methyltransferase activity

Catalysis of the reaction: S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N6-methyl-L-lysine. The methylation of peptidyl-lysine in histones forms N6-methyl-L-lysine, N6,N6-dimethyl-L-lysine and N6,N6,N6-trimethyl-L-lysine derivatives.

TAS

MF

GO:0042799

histone methyltransferase activity (H4-K20 specific)

Catalysis of the reaction: S-adenosyl-L-methionine + histone H4 L-lysine (position 20) = S-adenosyl-L-homocysteine + histone H4 N6-methyl-L-lysine (position 20). This reaction is the addition of a methyl group onto lysine at position 20 of the histone H4 protein.

TAS

MF

GO:0043565

sequence-specific DNA binding

Interacting selectively and non-covalently with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.

IEA

Domain ID Description

IPR000313

PWWP domain

IPR001214

SET domain

IPR001841

Zinc finger, RING-type

IPR001965

Zinc finger, PHD-type

IPR003616

Post-SET domain

IPR006560

AWS domain

IPR009071

High mobility group box domain

IPR011011

Zinc finger, FYVE/PHD-type

IPR013083

Zinc finger, RING/FYVE/PHD-type

IPR019786

Zinc finger, PHD-type, conserved site

IPR019787

Zinc finger, PHD-finger

Pathway ID Pathway Term Pathway Source

hsa00310

Lysine degradation

KEGG

hsa05202

Transcriptional misregulation in cancer

KEGG

UMLS CUI UMLS Term

C0007621

Neoplastic Cell Transformation

C1458155

Mammary Neoplasms

C1956097

Wolf-Hirschhorn Syndrome

C1961102

Precursor Cell Lymphoblastic Leukemia Lymphoma

Tissue Cell Type

appendix

lymphoid tissue

cerebral cortex

neuronal cells

cervix, uterine

squamous epithelial cells

duodenum

glandular cells

esophagus

squamous epithelial cells

hippocampus

neuronal cells

lymph node

germinal center cells

rectum

glandular cells

small intestine

glandular cells

testis

cells in seminiferous ducts

tonsil

germinal center cells

No databases found.

Pubmed ID Author Year Title

22617121

Ouandaogo et al.

2012

Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation

22951915

Haozi et al.

2012

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome

Gene Symbol Entrez ID Uniprot ID Score

MDM2

4193

Q00987

0.49

HIST2H3A; HIST2H3C; HIST2H3D

126961

Q71DI3

0.49

ESR1

2099

P03372

0.52

HIST1H4A; HIST1H4B; HIST1H4C; HIST1H4D; HIST1H4E; HIST1H4F; HIST1H4H; HIST1H4I; HIST1H4J; HIST1H4K; HIST1H4L; HIST2H4A; HIST2H4B; HIST4H4

121504

P62805

0.52

ACTB

60

P60709

0.63

ADAR

103

P55265

0.63

PARP1

142

P09874

0.63

ARHGAP4

393

P98171

0.63

ATP5B

506

P06576

0.63

CDC5L

988

Q99459

0.63

CSTF3

1479

Q12996

0.63

CTNNB1

1499

P35222

0.63

DDX1

1653

Q92499

0.63

DDX5

1655

P17844

0.63

DHX9

1660

Q08211

0.63

EWSR1

2130

Q01844

0.63

FUS

2521

P35637

0.63

XRCC6

2547

P12956

0.63

GOLGA3

2802

Q08378

0.63

HADHA

3030

P40939

0.63

HDLBP

3069

Q00341

0.63

HNRNPA1

3178

P09651

0.63

HNRNPAB

3182

Q99729

0.63

HNRNPC

3183

P07910

0.63

HNRNPD

3184

Q14103

0.63

HNRNPH1

3187

P31943

0.63

HNRNPK

3190

P61978

0.63

HNRNPL

3191

P14866

0.63

HNRNPU

3192

Q00839

0.63

HSD17B4

3295

P51659

0.63

HSP90AB1

3326

P08238

0.63

HSPD1

3329

P10809

0.63

ILF2

3608

Q12905

0.63

ILF3

3609

Q12906

0.63

KIF11

3832

P52732

0.63

LMNA

4000

P02545

0.63

LMNB1

4001

P20700

0.63

MAP1B

4131

P46821

0.63

MECP2

4204

P51608

0.63

HNRNPM

4670

P52272

0.63

NCL

4691

P19338

0.63

NONO

4841

Q15233

0.63

NUMA1

4926

Q14980

0.63

PKP2

5318

Q99959

0.63

PLEC

5339

Q15149

0.63

PLRG1

5356

O43660

0.63

PRKDC

5591

P78527

0.63

PRPSAP2

5636

O60256

0.63

PTBP1

5725

P26599

0.63

PTPN13

5783

Q12923

0.63

RANGAP1

5905

P46060

0.63

RBBP4

5928

Q09028

0.63

RPL6

6128

Q02878

0.63

RPLP0

6175

P05388

0.63

RPN1

6184

P04843

0.63

SFPQ

6421

P23246

0.63

SMARCA4

6597

P51532

0.63

TIAM1

7074

Q13009

0.63

TMPO

7112

P42166

0.63

TOP1

7150

P11387

0.63

TOP2B

7155

Q02880

0.63

EZR

7430

P15311

0.63

VIM

7431

P08670

0.63

XRCC5

7520

P13010

0.63

SMC1A

8243

Q14683

0.63

HIST1H3A

8350

P68431

0.63

SMARCA5

8467

O60264

0.63

RRP1

8568

P56182

0.63

KHSRP

8570

Q92945

0.63

IQGAP1

8826

P46940

0.63

DDX18

8886

Q9NVP1

0.63

BAZ1B

9031

Q9UIG0

0.63

DDX21

9188

Q9NR30

0.63

NOLC1

9221

Q14978

0.63

GTF3C4

9329

Q9UKN8

0.63

MDC1

9656

Q14676

0.63

NUP93

9688

Q8N1F7

0.63

SART3

9733

Q15020

0.63

THRAP3

9967

Q9Y2W1

0.63

RAD50

10111

Q92878

0.63

TRIM28

10155

Q13263

0.63

MPHOSPH10

10199

O00566

0.63

HNRNPR

10236

O43390

0.63

SF3A1

10291

Q15459

0.63

RBM14

10432

Q96PK6

0.63

SYNCRIP

10492

O60506

0.63

DDX17

10521

Q92841

0.63

CHERP

10523

Q8IWX8

0.63

NOP56

10528

O00567

0.63

TBL3

10607

Q12788

0.63

USP39

10713

Q53GS9

0.63

CD3EAP

10849

O15446

0.63

RUVBL2

10856

Q9Y230

0.63

POP1

10940

Q99575

0.63

SF3B2

10992

Q13435

0.63

PSIP1

11168

O75475

0.63

DDX20

11218

Q9UHI6

0.63

PDCD11

22984

Q14690

0.63

MYCBP2

23077

O75592

0.63

RRP12

23223

Q5JTH9

0.63

PDS5A

23244

Q29RF7

0.63

TARDBP

23435

Q13148

0.63

SF3B3

23450

Q15393

0.63

SF3B1

23451

O75533

0.63

PES1

23481

O00541

0.63

SKIV2L2

23517

P42285

0.63

PRPF6

24148

O94906

0.63

SUN2

25777

Q9UH99

0.63

POLR1A

25885

O95602

0.63

GEMIN5

25929

Q8TEQ6

0.63

TOR1AIP1

26092

Q5JTV8

0.63

GNL3

26354

Q9BVP2

0.63

AATF

26574

Q9NY61

0.63

RBMX

27316

P38159

0.63

PRPF19

27339

Q9UMS4

0.63

GEMIN4

50628

P57678

0.63

HP1BP3

50809

Q5SSJ5

0.63

PCF11

51585

O94913

0.63

NOP58

51602

Q9Y2X3

0.63

ZFR

51663

Q96KR1

0.63

GPATCH4

54865

Q5T3I0

0.63

SDAD1

55153

Q9NVU7

0.63

PBRM1

55193

Q86U86

0.63

PSPC1

55269

Q8WXF1

0.63

STRBP

55342

Q96SI9

0.63

CDKN2AIP

55602

Q9NXV6

0.63

UTP3

57050

Q9NQZ2

0.63

DDX24

57062

Q9GZR7

0.63

DHX37

57647

Q8IY37

0.63

CCAR2

57805

Q8N163

0.63

RBM25

58517

P49756

0.63

DDX31

64794

Q9H8H2

0.63

DDX50

79009

Q9BQ39

0.63

DDX54

79039

Q8TDD1

0.63

WDR77

79084

Q9BQA1

0.63

NOL10

79954

Q9BSC4

0.63

RAVER1

125950

Q8IY67

0.63

HNRNPA3

220988

P51991

0.63

HNRNPUL2

221092

Q1KMD3

0.63

CCDC88C

440193

Q9P219

0.63

SMN1; SMN2

6606

Q16637

0.63

APP

351

P05067

0.66

HIST3H3

8290

Q16695

0.66

IFI16

3428

Q16666

0.73

RBM10

8241

P98175

0.73

MYBBP1A

10514

Q9BQG0

0.73

AR

367

P10275

0.78

WHSC1

7468

O96028

0.83

HDAC2

3066

Q92769

0.88

LSM1

27257

O15116

0.49

MNDA

4332

P41218

0.63

RPL8

6132

P62917

0.63

RPL14

9045

P50914

0.63

KDM1A

23028

O60341

0.63

ZC3H3

23144

Q8IXZ2

0.63

BRD4

23476

O60885

0.63

DTL

51514

Q9NZJ0

0.63

SIRT7

51547

Q9NRC8

0.63

PRR11

55771

Q96HE9

0.63

RBM4B

83759

Q9BQ04

0.63

PCNA

5111

P12004

0.68

SIN3B

23309

O75182

0.72

SIN3A

25942

Q96ST3

0.72

HDAC1

3065

Q13547

0.89